Genetic, Chromosomal & Metabolic Conditions

While still in the womb, some babies have problems with how their organs and body parts form, how they work, or how their bodies turn food into energy. These health problems are called birth defects.

There are more than 4,000 different kinds of birth defects, ranging from minor ones that need no treatment to serious ones that cause disabilities or require medical or surgical treatment. According to the March of Dimes, 1 out of every 33 babies born each year in the United States has a birth defect.

If a baby is born with a part of the body that is missing or malformed, it is called a structural birth defect. Heart defects are the most common type of structural defect. Others include spina bifida, cleft palate, clubfoot, and congenital dislocated hip.

When there is a problem with a baby’s body chemistry, it is called a metabolic birth defect. Metabolic defects prevent the body from properly breaking down food to create energy. Examples of metabolic defects include Tay-Sachs disease, a fatal disease that affects the central nervous system, and phenylketonuria (PKU), which affects the way the body processes protein.

For people who want to become parents, it’s important to know that some birth defects can be prevented. During a woman’s pregnancy, taking folic acid and getting enough iodine in the diet can help prevent some types of birth defects. But it’s also important to realize that most babies born with birth defects are born to two healthy parents with no obvious health problems or risk factors.

Causes

In most cases, doctors don’t know what caused a baby’s birth defect. When the cause is known, it might be environmental (such as a baby’s exposure to chemicals or viruses while in the womb), a problem with the fetus’ genes, or a combination of these things.

Environmental Causes

If a mother has certain infections (such as toxoplasmosis) during pregnancy, her baby can have a birth defect. Other conditions that cause defects include rubella and chickenpox (varicella). Fortunately, many people get vaccinated against these diseases so these infections are rare.

Also, alcohol abuse by the mother may cause fetal alcohol syndrome, and certain medicines taken by the mother can cause birth defects. (Doctors try to avoid harmful medicines during pregnancy, so a pregnant woman should tell any doctor she consults that she’s expecting.)

Genetic Causes

Every cell in the body has chromosomes containing genes that determine a person’s unique characteristics. During conception, a child inherits one of each pair of chromosomes (and one of each pair of the genes they contain) from each parent. An error during this process can cause a baby to be born with too few or too many chromosomes, or with a damaged chromosome.

One well-known birth defect caused by a chromosome problem is Down syndrome. A baby develops Down syndrome after getting one extra chromosome. Other genetic defects happen when both parents pass along a faulty gene for the same disease; this is called recessive inheritance and includes conditions such as Tay-Sachs disease and cystic fibrosis.

A disease or defect also can happen when only one parent passes along the gene for that disease. This is called dominant inheritance. This includes birth defects such as achondroplasia (a form of dwarfism) and Marfan syndrome (a disorder characterized by abnormally long fingers, arms, and legs).

Finally, some boys inherit disorders from genes passed onto them only by their mothers. These defects, which include conditions like hemophilia and color blindness, are called X-linked because the genes are carried on the X chromosome. Males have only one X chromosome, which is received from the mother, whereas females have two X chromosomes — one from each parent. A faulty gene on the X chromosome will be more likely to cause a problem in boys because they don’t have a normal copy of the gene. Females who have an altered gene on one X chromosome and a normal gene on the other sometimes have mild features of the given defect.

Common Birth Defects

Cleft lip and/or palate happens when the tissues of the mouth or lip don’t form properly during fetal development, leaving an opening, division, or split in that area. This is called “clefting.” A cleft lip is a long opening between the upper lip and the nose. A cleft palate is an opening between the roof of the mouth and the nasal cavity. In the United States, oral clefting happens in 1 in 700 to 1,000 births, making it one of the most common major birth defects. Clefting can be surgically repaired after birth.

Cerebral palsy usually isn’t found until weeks to months after birth. Kids with cerebral palsy have difficulty controlling the motions their muscles make — which muscles and how severely they are impaired varies from person to person. There’s no cure for cerebral palsy, but therapies and other treatments can help kids improve their quality of life. The condition affects about 3 to 4 babies in every 1,000 born.

Clubfoot is a term used to describe a group of structural defects of the foot and ankle in which the bones, joints, muscles, and blood vessels are formed incorrectly. These defects range from mild to severe and may affect one or both feet. Feet affected by this defect most often point down, turn in, and have a limited range of motion. This is a relatively common birth defect, affecting about 1 to 3 in every 1,000 babies born each year in the United States. Boys are affected almost twice as often as girls. In most cases the cause is unknown, but some cases of clubfoot are a result of a genetic disorder or problems inside a mother’s uterus that can affect or restrict the development of her baby’s foot (for example, having too little amniotic fluid). This condition can be treated by applying a cast to the foot immediately after birth. This treatment works most of the time; if it doesn’t, surgery and further casting are usually done.

Developmental dysplasia of the hip is when the round upper end of the thighbone doesn’t sit inside the socket of the pelvis properly. This can happen in one or both hips and occurs in 1 in 1,000 births. While the exact cause is unknown, it tends to happen more in girls and runs in families. It’s usually discovered at birth and treated soon after by placing the baby in a soft sling for 6 to 9 months. If it’s not recognized and treated early, surgery may be necessary.

Congenital hypothyroidism, which occurs in about 1 in 3,000 to 4,000 births, happens when the baby’s thyroid gland (located in the front of the neck) is absent or underdeveloped at birth or if a metabolic defect blocks production of thyroid hormone. This causes a lack of thyroid hormone, which is important for supporting normal growth and brain development. If this condition isn’t recognized and treated with thyroid hormone medicines within the first few weeks of life, a baby will develop a developmental delay and permanent intellectual disability (mental retardation). Because of this, every state in the United States and most other countries routinely screen all newborns for hypothyroidism with a blood test taken shortly after birth.

Fetal alcohol syndrome (FAS) causes slowed growth, intellectual disability, abnormalities in facial features, and problems with the central nervous system. Every year between 2,000 and 12,000 babies in the United States are born with defects caused by alcohol. FAS cannot be cured or treated, but can be prevented by avoiding alcohol intake during pregnancy.

Neural tube defects (NTD) happen in the first month of pregnancy when the structure that develops into the brain and spinal cord is forming. Normally, this structure folds into a tube by the 29th day after conception. When the tube doesn’t close completely, the baby has a neural tube defect. The two most common forms of this defect are:

• Spina bifida, which happens when the spinal column doesn’t close completely around the spinal cord. It ranges from mild to severe and can be associated with loss of bladder and bowel function, paralysis, and in some cases, death.
• Anencephaly, which occurs in 3 out of 10,000 births, involves the lack of development of parts of the brain.

NTDs happen in roughly 1 out of every 3,000 live births. Many babies with these defects are stillborn or die soon after birth. Making sure a mother gets enough folic acid before and during pregnancy helps reduce the chances of a baby having an NTD.

Heart Defects

Heart defects happen when a part of the heart fails to develop properly when a baby is in the womb. These include:

• atrial and ventricular septal defects, which are holes in the walls that separate the heart into its left and right sides
• patent ductus arteriosus, which happens when the tubular blood channel that allows the blood to bypass the lungs while the baby is in the womb doesn’t close (as expected) after birth
• aortic or pulmonary valve stenosis, which are narrowings of the valves that allow blood to flow from the heart to the lungs and other parts of the body
• coarctation of the aorta, which is a narrowing of the aorta, the major blood vessel carrying blood from the heart to the rest of the body
• transposition of the great arteries, which is a reversal of the connections of the aorta and the pulmonary artery within the heart
• hypoplastic left heart system, which is when the side of the heart that pumps blood to the body is underdeveloped or nonexistent
• tetralogy of Fallot, which is a combination of four heart defects that involves restriction in the flow of blood to the lungs

Although the specific cause of most heart defects isn’t known, doctors do know that many defects happen during the first trimester of pregnancy. The heart develops during the first 8-9 weeks of fetal growth, so these problems usually develop early on. Sometimes surgeons consult with parents about these conditions while a fetus is still in the womb. At birth, babies are routinely screened to check for normal blood oxygen levels right at birth and at 24 hours after birth, which has helped with early identification of congenital heart disease.

Exposure to certain medications (such as chemotherapy drugs, thalidomide, and the antiseizure drug phenytoin) during the first trimester of pregnancy may play a role in causing heart defects. Other causes include maternal alcohol abuse, rubella (German measles) infection, and diabetes during pregnancy.

Gastrointestinal Tract Defects

Gastrointestinal defects are structural defects that can happen at any point along the gastrointestinal tract, which is made up of the esophagus, stomach, small and large intestines, rectum, and anus. The incomplete or abnormal development of any of these organs can cause blockages that can lead to swallowing difficulties, vomiting, and problems with bowel movements.

Some of these defects are:

• esophageal atresia, or incomplete development of the esophagus
• diaphragmatic hernia, a defect in the layer of muscle separating the chest from the abdomen that allows some of the abdominal organs to protrude up into the chest
• pyloric stenosis, a condition in which the muscular wall of the passage carrying food from the stomach to the small intestine is abnormally thick and the passage narrow, forcing food back out through the esophagus (vomiting)
• Hirschsprung disease, in which a section of the large intestine is missing the nerves that control its contractions, resulting in severe constipation and sometimes bowel obstruction
• gastroschisis and omphalocele are defects in the abdominal wall that allow the intestine and other abdominal organs to protrude
• anal atresia involves lack of or incomplete development of the anus, causing it to be absent or smaller than it should be, often with the opening in the wrong place
• biliary atresia, in which the bile-carrying ducts in the liver either didn’t develop or developed abnormally

Genetics play some role in all these defects, but it is unclear exactly how and to what degree. Early detection and treatment of these defects is important, as they can lead to serious health problems and even death if left untreated. Surgery is usually necessary to repair them.

Genetic Birth Defects

Cystic fibrosis (CF) affects cells in the lining of the skin and many of the passageways in the lungs, digestive system, and reproductive system. It causes these body parts to produce a thick, sticky mucus. Children with CF have frequent lung infections, problems digesting food, and poor weight gain. Treatment includes therapy to maintain lung function, get adequate nutrition, and prevent infections.

Down syndrome is a relatively common birth defect, affecting about 1 in 800 to 1,000 births. The chances of having a baby with Down syndrome increase dramatically with the age of the mother. Children with Down syndrome are born with an extra (third) copy of chromosome number 21 in their cells. They can have mild to severe symptoms and may have intellectual disability (mental retardation), distinctive physical features, heart defects, and other health problems.

Fragile X syndrome causes mental impairment that ranges from learning disabilities to intellectual disabilities (mental retardation), autistic behaviors, and problems with attention and hyperactivity. Physical characteristics of children with Fragile X include a long face, large ears, flat feet, and extremely flexible joints, especially fingers. Boys are affected more often than girls. There is no cure for Fragile X, although researchers are exploring ways to prevent it and deal with the complications.

Muscular dystrophy is a general term that’s used to describe more than 40 different types of muscle diseases, all of which involve progressive weakness and degeneration (a breakdown) of the muscles that control movement. Heart muscles and some other involuntary muscles are also affected in some forms of muscular dystrophy, and a few forms also involve other organs. Almost all forms of the disorder are genetic and cannot be cured. Treatment includes physical and respiratory therapy, the use of assistive technology, and medications.

Phenylketonuria (PKU) affects the way the body processes protein and can cause intellectual disability (mental retardation). A baby born with PKU appears normal, but if the disease isn’t treated, the child will suffer from developmental delays that are apparent by the first birthday. If the child is promptly treated with a special diet, intellectual disability can be prevented.

Sickle cell disease is a disorder of the red blood cells in which an abnormal sickle-like shape of the cells causes ongoing or chronic anemia (low blood count), periods of pain, and other health problems. Treatment may include taking antibiotics to prevent infection, blood transfusions, and bone marrow transplantation.

Tay-Sachs disease affects the central nervous system, causing blindness, dementia, paralysis, seizures, and deafness. It’s usually fatal within the first few years of life. Babies with this disease appear normal when they are born; the symptoms develop during the first few months of life. Although there is no treatment for this disease, there’s a test to help parents determine if they are carriers of the gene.

Infections That Cause Birth Defects

Infections during pregnancy can cause a variety of birth defects. These include:

• Congenital rubella syndrome, which poses the highest risk of fetal damage. In this syndrome, a child can have vision and/or hearing loss, heart defects, intellectual disability, and cerebral palsy. Because almost everyone is immunized against rubella, congenital rubella is almost never seen.
• Cytomegalovirus (CMV), probably the most common infection that shows up at birth. If a woman has this virus during pregnancy, her child may have low birth weight, intellectual disability (mental retardation) or learning disabilities, and hearing loss.
• Toxoplasmosis infection of the mother, which in her baby can cause eye infections that threaten vision, hearing loss, learning disabilities, enlarged liver or spleen, mental retardation, and cerebral palsy.
• Genital herpes virus infection of the mother, which can cause brain damage, cerebral palsy, vision or hearing impairment, and death of the baby if the virus is transmitted to the infant before or during the birth. Herpes complications are most commonly due to infection during the birth process and are not commonly classified as birth defects.
• Fifth disease, which can cause a dangerous form of anemia, heart failure, and in some cases fetal death.
• Congenital varicella syndrome, which is caused by chickenpox and can lead to scars, defects of muscle and bone, malformed and paralyzed limbs, a smaller-than-normal head, blindness, seizures, and intellectual disability (mental retardation). This is a rare occurrence in pregnant women who become infected with chickenpox.
• Congenital syphilis, which can become apparent when a child is a baby (early) or after age 2 (late). In early congenital syphilis, a child may be born prematurely or have an enlarged liver or spleen, inflammation of the nasal cartilage or “snuffles,” bone changes, and central nervous system problems. A child with late congenital syphilis may have abnormalities of the facial bones and teeth, vision problems, and deafness.

Women who are pregnant should talk to their health care providers about ways to avoid these infections and what to do if they’re exposed to them.

Diagnosing Birth Defects

Many birth defects are diagnosed even before a baby is born through prenatal tests. Prenatal tests also can help determine if a mother has an infection or other condition that is dangerous for the fetus. Knowing about a baby’s health problems ahead of time can help parents and doctors plan for the future.

Defects that may be detected through prenatal screening include:

• neural tube defects (spina bifida, anencephaly)
• Down syndrome and other chromosome abnormalities
• inherited metabolic disorders
• congenital heart defects
• gastrointestinal and kidney malformations
• cleft lip or palate
• certain birth defects of the limbs
• congenital tumors

It’s important to remember that screening identifies only the possibility that a baby has a defect. It’s possible to give birth to a healthy baby after a screening test shows that a defect may be present. You aren’t required to have any prenatal screening; talk to your doctor about any tests he or she thinks you should have.

Other birth defects that can’t be detected before birth can be identified during routine newborn screenings. With parents’ permission, babies are tested after birth to screen for certain birth defects that need to be treated soon after birth. Exactly what a baby is tested for varies from state to state, although all states screen for phenylketonuria (PKU), congenital hypothyroidism, sickle cell disease, and about 30 other conditions identified using a technology called tandem mass spectroscopy. Parents should ask health care providers or the hospital nursery which tests their state performs routinely.

Other disorders that states may test newborns for include:

• cystic fibrosis
• congenital adrenal hyperplasia (an inherited disorder of the adrenal gland that can cause severe illness in newborns if not diagnosed and treated within the first few weeks of life)
• hearing loss

Parents who have concerns about another specific birth defect might be able to have their baby tested for it. They should talk to their health care provider about it before the baby is born.

Preventing Birth Defects

Many birth defects can’t be prevented, but a woman can do some things before and during pregnancy to help lower the chances of having a baby with a birth defect.

Before pregnancy, women should:

• make sure their vaccinations are up to date
• make sure they don’t have any sexually transmitted diseases (STDs)
• get the daily recommended dose of folic acid before trying to conceive
• avoid unnecessary medicines and talk to their doctor about medicines they are taking

If there’s a family history of birth defects or a woman is part of a high-risk group (due to age, ethnic background, or medical history), she should consider meeting with a genetic counselor to determine her baby’s risk.

During pregnancy, it’s important to take prenatal vitamins and eat a healthy diet in addition to taking the following precautions:

• don’t smoke and avoid secondhand smoke
• don’t drink alcohol
• avoid all illicit drugs
• get exercise and plenty of rest
• get early and regular prenatal care

By following these pregnancy precautions, women can help reduce their babies’ risk of birth defects.

About Down Syndrome

Down syndrome (DS), also called Trisomy 21, is a condition in which a person is born with an extra chromosome. Chromosomes contain hundreds, or even thousands, of genes. Genes carry the information that determines your traits (features or characteristics passed on to you from your parents). With Down syndrome, the extra chromosome causes delays in the way a child develops, mentally and physically.

The physical features and medical problems associated with Down syndrome can vary widely from child to child. While some kids with DS need a lot of medical attention, others lead healthy lives.

Though Down syndrome can’t be prevented, it can be detected before a child is born. The health problems that may go along with DS can be treated, and many resources are available to help kids and their families who are living with the condition.

What Causes It?

Normally, at the time of conception a baby inherits genetic information from its parents in the form of 46 chromosomes: 23 from the mother and 23 from the father. In most cases of Down syndrome, a child gets an extra chromosome 21 — for a total of 47 chromosomes instead of 46. It’s this extra genetic material that causes the physical features and developmental delays associated with DS.

Although no one knows for sure why DS happens and there’s no way to prevent the chromosomal error that causes it, scientists do know that women age 35 and older have a significantly higher risk of having a child with the condition. At age 30, for example, a woman has about a 1 in 1,000 chance of conceiving a child with DS. Those odds increase to about 1 in 400 by age 35. By 40 the risk rises to about 1 in 100.

How Down Syndrome Affects Kids

Kids with Down syndrome tend to share certain physical features such as a flat facial profile, an upward slant to the eyes, small ears, and a protruding tongue.

Low muscle tone (called hypotonia) is also characteristic of children with DS, and babies in particular may seem especially “floppy.” Though this can and often does improve over time, most children with DS typically reach developmental milestones — like sitting up, crawling, and walking — later than other kids.

At birth, kids with DS are usually of average size, but they tend to grow at a slower rate and remain smaller than their peers. For infants, low muscle tone may contribute to sucking and feeding problems, as well as constipation and other digestive issues. Toddlers and older kids may have delays in speech and self-care skills like feeding, dressing, and toilet teaching.

Down syndrome affects kids’ ability to learn in different ways, but most have mild to moderate intellectual impairment. Kids with DS can and do learn, and are capable of developing skills throughout their lives. They simply reach goals at a different pace — which is why it’s important not to compare a child with DS against typically developing siblings or even other children with the condition.

Kids with DS have a wide range of abilities, and there’s no way to tell at birth what they will be capable of as they grow up.

Medical Problems Associated With DS

While some kids with DS have no significant health problems, others may experience a host of medical issues that require extra care. For example, almost half of all children born with DS will have a congenital heart defect.

Kids with Down syndrome are also at an increased risk of developing pulmonary hypertension, a serious condition that can lead to irreversible damage to the lungs. All infants with Down syndrome should be evaluated by a pediatric cardiologist.

Approximately half of all kids with DS also have problems with hearing and vision. Hearing loss can be related to fluid buildup in the inner ear or to structural problems of the ear itself. Vision problems commonly include strabismus (cross-eyed), near- or farsightedness, and an increased risk of cataracts.

Regular evaluations by an otolaryngologist (ear, nose, and throat doctor), audiologist, and an ophthalmologist are necessary to detect and correct any problems before they affect language and learning skills.

Other medical conditions that may happen more frequently in kids with DS include thyroid problems, stomach and intestinal problems, seizure disorders, breathing problems, including sleep apnea and asthma, obesity, an increased chance of infections, and a higher risk of childhood leukemia. People with Down syndrome sometimes have an unstable upper spine and should be evaluated by a doctor before participating in physical activities. Fortunately, many of these conditions are treatable.

Prenatal Screening and Diagnosis

Two types of prenatal tests are used to detect Down syndrome in a fetus: screening tests and diagnostic tests. Screening tests estimate the risk that a fetus has DS; diagnostic tests can tell whether the fetus actually has the condition.

Screening tests are cost-effective and easy to perform. But because they can’t give a definitive answer as to whether a baby has DS, these tests are used to help parents decide whether to have more diagnostic tests.

Diagnostic tests are about 99% accurate in detecting Down syndrome and other chromosomal abnormalities. However, because they’re performed inside the uterus, they are associated with a risk of miscarriage and other complications.

For this reason, invasive diagnostic testing previously was generally recommended only for women age 35 or older, those with a family history of genetic defects, or those who’ve had an abnormal result on a screening test.

However, the American College of Obstetrics and Gynecology (ACOG) now recommends that all pregnant women be offered screening with the option for invasive diagnostic testing for Down syndrome, regardless of age.

If you’re unsure about which test, if any, is right for you, your doctor or a genetic counselor can help you sort through the pros and cons of each.

Screening tests include:

• Nuchal translucency testing. This test, performed between 11 and 14 weeks of pregnancy, uses ultrasound to measure the clear space in the folds of tissue behind a developing baby’s neck. (Babies with DS and other chromosomal abnormalities tend to accumulate fluid there, making the space appear larger.) This measurement, taken together with the mother’s age and the baby’s gestational age, can be used to calculate the odds that the baby has DS. Nuchal translucency testing is usually performed along with a maternal blood test.
• The triple screen or quadruple screen (also called the multiple marker test). These tests measure the quantities of normal substances in the mother’s blood. As the names imply, triple screen tests for three markers; the quadruple screen includes one additional marker and is more accurate. These tests are typically offered between 15 and 18 weeks of pregnancy.
• Integrated screen. This uses results from first-trimester screening tests (with or without nuchal translucency) and blood tests with a second trimester quadruple screen to come up with the most accurate screening results.
• A genetic ultrasound. A detailed ultrasound is often performed at 18 to 20 weeks in conjunction with the blood tests, and it checks the fetus for some of the physical traits abnormalities associated with Down syndrome.
• Cell free DNA. This test analyzes fetal DNA found in the mother’s blood. It can be done in the 1st trimester and is more accurate at detecting Trisomy 21 than standard blood tests. Currently cell free DNA testing is only offered to women at high risk of having a baby with Down Syndrome.

Diagnostic tests include:

• Chorionic villus sampling (CVS). CVS involves taking a tiny sample of the placenta, either through the cervix or through a needle inserted in the abdomen. The advantage of this test is that it can be performed during the first trimester, typically between 10 and 12 weeks. The disadvantage is that it carries a slightly greater risk of miscarriage as compared with amniocentesis and has other complications.
• Amniocentesis. This test, performed between 15 and 20 weeks of pregnancy, involves the removal of a small amount of amniotic fluid through a needle inserted in the abdomen. The cells can then be analyzed for the presence of chromosomal abnormalities. Amniocentesis carries a small risk of complications, such as preterm labor and miscarriage.
• Percutaneous umbilical blood sampling (PUBS) or cordocentesis. Usually performed after 18 weeks, this test uses a needle to retrieve a small sample of blood from the umbilical cord. It carries risks similar to those associated with amniocentesis.

After a baby is born, if the doctor suspects DS based on the infant’s physical characteristics, a karyotype — a blood or tissue sample stained to show chromosomes grouped by size, number, and shape — can be done to verify the diagnosis.

Resources That Can Help

If you’re the parent of a child diagnosed with Down syndrome, you may at first feel overwhelmed by feelings of loss, guilt, and fear. Talking with other parents of kids with DS may help you deal with the initial shock and grief and find ways to look toward the future. Many parents find that learning as much as they can about DS helps ease some of their fears.

Experts recommend enrolling kids with Down syndrome in early-intervention services as soon as possible. Physical, occupational, and speech therapists and early-childhood educators can work with your child to encourage and accelerate development.

Many states provide free early-intervention services to kids with disabilities from birth to age 3, so check with your doctor or a social worker to learn what resources are available in your area.

Once your child is 3 years old, he or she is guaranteed educational services under the Individuals with Disabilities Education Act (IDEA). Under IDEA, local school districts must provide “a free appropriate education in the least restrictive environment” and an individualized education program (IEP) for each child.

Where to send your child to school can be a difficult decision. Some kids with Down syndrome have needs that are best met in a specialized program, while many others do well attending neighborhood schools alongside peers who don’t have DS. Studies have shown that this type of situation, known as inclusion, is beneficial for both the child with DS as well as the other kids.

Your school district’s child study team can work with you to determine what’s best for your child, but remember, any decisions can and should involve your input, as you are your child’s best advocate.

Today, many kids with Down syndrome go to school and enjoy many of the same activities as other kids their age. A few go on to college. Many transition to semi-independent living. Still others continue to live at home but are able to hold jobs, thus finding their own success in the community.

There’s been a lot of discussion over the years about the proper way to refer to someone with dwarfism. Many people who have the condition prefer the term “little person” or “person of short stature.” For some, “dwarf” is acceptable. For most, “midget” definitely is not.

But here’s an idea everyone can agree on: Why not simply call a person with dwarfism by his or her name?

Being of short stature is only one of the characteristics that make a little person who he or she is. If you’re the parent or loved one of a little person, you know this to be true.

Dwarfism Facts

Here are some facts that other people may not realize about dwarfism and those who have it.

Dwarfism:

• is characterized by short stature. Technically, that means an adult height of 4 feet 10 inches or under, according to the advocacy group Little People of America (LPA).
• can be caused by any one of more than 300 conditions, most of which are genetic. The most common type is called achondroplasia.
• can and most often does happen in families where both parents are of average height. In fact, 4 out of 5 of children with achondroplasia are born to average-size parents.

Dwarfism isn’t:

• an intellectual disability. A person who has dwarfism is typically of normal intelligence.
• a disease that requires a “cure.” Most people with one of these conditions live long, fulfilling lives.
• a reason to assume someone is incapable. Little people go to school, go to work, drive cars, marry, and raise children, just like their average-size peers.

What Causes Short Stature?

More than 300 well-described conditions are known to cause short stature in a child. Most are caused by a spontaneous genetic change (mutation) in the egg or sperm cells prior to conception. Others are caused by genetic changes inherited from one or both parents.

Depending on the type of condition causing the short stature, it is possible for two average-size parents to have a child with short stature, and is also possible for parents who are little people to have an average-size child.

What prompts a gene to mutate is not yet clearly understood. The change is seemingly random and unpreventable, and can happen in any pregnancy. If parents have some form of dwarfism themselves, the odds are likely that their children will also be little people. A genetic counselor can help determine the likelihood of passing on the condition in these cases.

Dwarfism has other causes, including metabolic or hormonal disorders in infancy or childhood. Chromosomal abnormalities, pituitary gland disorders (which influence growth and metabolism), absorptive problems (when the body can’t absorb nutrients adequately), and kidney disease can all lead to short stature if a child fails to grow at a normal rate.

Types of Short Stature

Most types of dwarfism are known as skeletal dysplasia, which are conditions of abnormal bone growth. They’re divided into two types: short-trunk and short-limb dwarfism. People with short-trunk dwarfism have a shortened trunk with more average-sized limbs, whereas those with short-limb dwarfism have an average-sized trunk but shortened arms and legs.

By far, the most common skeletal dysplasia is achondroplasia, a short-limb dwarfism that happens in about 1 of every 15,000 to 40,000 babies born of all races and ethnicities. It can be caused by a spontaneous mutation in a gene called FGFR3, or a child can inherit a change in this gene from a parent who also has achondroplasia.

People with achondroplasia have a relatively long trunk and shortened upper parts of their arms and legs. They may share other features as well, such as a larger head with a prominent forehead, a flattened bridge of the nose, shortened hands and fingers, and reduced muscle tone. The average adult height for someone with achondroplasia is a little over 4 feet.

Diastrophic dysplasia is a different form of short-limb dwarfism. It happens in about 1 in 100,000 births, and is also sometimes associated with cleft palate, clubfeet, and ears with a cauliflower-like appearance. People who have this diagnosis tend to have shortened forearms and calves (this is known as mesomelic shortening).

Spondyloepiphyseal dysplasias (SED) refers to a group of various short-trunk skeletal conditions. Along with achondroplasia and diastrophic dysplasia, it is one of the more common types of dwarfism. In one type of SED, the lack of growth in the trunk area may not become apparent until the child is school age; other forms are apparent at birth. Kids with this disorder also might have clubfeet, cleft palate, and vision and/or hearing issues.

In general, dwarfism caused by skeletal dysplasias results in what is known as disproportionate short stature — meaning the limbs and the trunk are not of the same proportion as those of typically-statured people.

Metabolic or hormonal disorders typically cause proportionate dwarfism, meaning a person’s arms, legs, and trunk are all shortened but remain in proportion to overall body size.

Diagnosis

Some types of dwarfism can be identified through prenatal testing if a doctor suspects a particular condition and tests for it.

But most cases are not identified until after the child is born. In those instances, the doctor makes a diagnosis based on the baby’s appearance, growth pattern, and X-rays of the bones. Depending on the type of dwarfism the child has, diagnosis often can be made almost immediately after birth.

Once a diagnosis is made, there is no “treatment” for most of the conditions that lead to short stature. Hormonal or metabolic problems may be treated with hormone injections or special diets to increase a child’s growth, but skeletal dysplasias cannot be “cured.”

People with skeletal dysplasias can, however, get medical care for some of the health complications associated with their short stature.

Some forms of dwarfism also involve issues in other body systems — such as vision or hearing — and require careful monitoring.

Possible Complications and Treatments

Short stature is the one quality all people with dwarfism have in common. After that, each of the many conditions that cause dwarfism has its own set of characteristics and possible complications.

Fortunately, many of these complications are treatable, so that people of short stature can lead healthy, active lives.

For example, a small percentage of babies with achondroplasia may have hydrocephalus (excess fluid around the brain). They may also have a greater risk of developing apnea (a temporary stop in breathing during sleep). This can be due to abnormally small bone anatomy or because of airway obstruction by the adenoids or the tonsils. Occasionally, a part of the brain or spinal cord is compressed. With close monitoring by doctors, however, these potentially serious problems can be detected early and surgically corrected.

As a child with dwarfism grows, other issues also may become apparent, including:

• development of some motor skills, such as sitting up and walking happening at older ages than an average-sized child
• a greater susceptibility to ear infections and hearing loss
• breathing problems caused by small chests
• weight problems
• curvature of the spine (scoliosis, kyphosis, and/or lordosis)
• bowed legs
• trouble with joint flexibility and early arthritis
• lower back pain or leg numbness
• crowding of teeth

Not every type of dwarfism has all of these problems associated with it, and proper medical care can help with many of them. Surgery also can be used to improve some of the leg, hip, and spine problems people with dwarfism sometimes face.

Nonsurgical options can help, too — for instance, excessive weight can worsen many orthopedic problems, so a dietitian might help develop a healthy plan for shedding extra pounds. And doctors or physical therapists can recommend ways to increase physical activity without putting extra stress on the bones and joints.

Helping Your Child

Although types of dwarfism, and their severity and complications, vary from person to person, in general a child’s life span is not affected by dwarfism. Although the Americans with Disabilities Act protects the rights of people with dwarfism, many members of the short-statured community don’t feel that they have a disability.

You can help your child with dwarfism lead the best life possible by building his or her sense of independence and self-esteem right from the start.

Here are some general tips to keep in mind:

• Treat your child according to his or her age and developmental level, and not size. For example, a 2-year-old should not still be using a bottle, even if he or she is the size of a 1-year-old. And, if you expect a 6-year-old to clean up his or her room, don’t make an exception simply because your child is small.
• Adapt to your child’s limitations. Something as simple as a light switch extender and a well-placed step stool can give a short-statured child a sense of independence around the house.
• Present your child’s condition — both to your child and to others — as a difference rather than a hindrance. Your attitude and expectations can have a significant influence on your child’s self-esteem.
• Learn to outwardly deal with people’s reactions, whether it’s simple curiosity or outright ignorance, without anger. Address questions or comments as directly as possible, then take a moment to point out something special about your child. If your child is with you, this approach shows that you notice all the other qualities that make him or her unique and, importantly, that his or her dwarfism doesn’t cause you any anger. It also helps prepare your child for dealing with these situations when you’re not there.
• If your child is teased at school, don’t overlook it. Talk to teachers and administrators to make sure your child is getting the support he or she needs.
• Encourage your child to find a hobby or activity to enjoy. If sports aren’t going to be your child’s thing, then maybe music, art, computers, writing, or photography will be.
• Finally, get involved with support associations like the Little People of America. Getting to know other people with dwarfism — both as peers and mentors — can show your child just how much he or she can achieve.

G6PD deficiency is an inherited condition in which the body doesn’t have enough of the enzyme glucose-6-phosphate dehydrogenase, or G6PD, which helps red blood cells (RBCs) function normally. This deficiency can cause hemolytic anemia, usually after exposure to certain medications, foods, or even infections.

Most people with G6PD deficiency don’t have any symptoms, while others develop symptoms of anemia only after RBCs have been destroyed, a condition called hemolysis. In these cases, the symptoms disappear once the cause, or trigger, is removed. In rare cases, G6PD deficiency leads to chronic anemia.

With the right precautions, a child with G6PD deficiency can lead a healthy and active life.

About G6PD Deficiency

G6PD is one of many enzymes that help the body process carbohydrates and turn them into energy. G6PD also protects red blood cells from potentially harmful byproducts that can accumulate when a person takes certain medications or when the body is fighting an infection.

In people with G6PD deficiency, either the RBCs do not make enough G6PD or what is produced cannot properly function. Without enough G6PD to protect them, RBCs can be damaged or destroyed. Hemolytic anemia occurs when the bone marrow (the soft, spongy part of the bone that produces new blood cells) cannot compensate for this destruction by increasing its production of RBCs.

Causes of G6PD Deficiency

G6PD deficiency is passed along in genes from one or both parents to a child. The gene responsible for this deficiency is on the X chromosome.

G6PD deficiency is most common in males of African heritage. Many females of African heritage are carriers of G6PD deficiency, meaning they can pass the gene for the deficiency to their children but do not have symptoms; only a few are actually affected by G6PD deficiency.

People of Mediterranean heritage, including those of Italian, Greek, Arabic, and Sephardic Jewish backgrounds, also are commonly affected. The severity of G6PD deficiency varies among these groups — it tends to be milder in those of African heritage and more severe in people of Mediterranean descent.

Why does G6PD deficiency happen more often in certain groups of people? It is known that Africa and the Mediterranean basin are high-risk areas for the infectious disease malaria. Researchers have found evidence that the parasite that causes this disease does not survive well in G6PD-deficient cells. So they believe that the deficiency may have developed as a protection against malaria.

G6PD Deficiency Symptom Triggers

Kids with G6PD deficiency typically do not show any symptoms of the disorder until their red blood cells are exposed to certain triggers, which can be:

• illness, such as bacterial and viral infections
• certain painkillers and fever-reducing drugs
• certain antibiotics (especially those that have “sulf” in their names)
• certain antimalarial drugs (especially those that have “quine” in their names)

Some kids with G6PD deficiency can tolerate the medications in small amounts; others cannot take them at all. Check with your doctor for more specific instructions, as well as a complete list of medications that could pose a problem for a child with G6PD deficiency.

Other substances can be harmful to kids with this condition when consumed — or even touched — such as fava beans and naphthalene (a chemical found in mothballs and moth crystals). Mothballs can be particularly harmful if a child accidentally swallows one, so ANY contact should be avoided.

Symptoms of G6PD Deficiency

A child with G6PD deficiency who is exposed to a medication or infection that triggers the destruction of RBCs may have no symptoms at all. In more serious cases, a child may exhibit symptoms of hemolytic anemia (also known as a hemolytic crisis), including:

• paleness (in darker-skinned kids, paleness is sometimes best seen in the mouth, especially on the lips or tongue)
• extreme tiredness
• rapid heartbeat
• rapid breathing or shortness of breath
• jaundice, or yellowing of the skin and eyes, particularly in newborns
• an enlarged spleen
• dark, tea-colored urine

Once the trigger is removed or resolved, the symptoms of G6PD deficiency usually disappear fairly quickly, typically within a few weeks.

If symptoms are mild, no medical treatment is usually needed. As the body naturally makes new red blood cells, the anemia will improve. If symptoms are more severe, a child may need to be hospitalized for supportive medical care.

Diagnosis and Treatment

In most cases, cases of G6PD deficiency go undiagnosed until a child develops symptoms. If doctors suspect G6PD deficiency, blood tests usually are done to confirm the diagnosis and to rule out other possible causes of the anemia.

If you feel that your child may be at risk because of either a family history or your ethnic background, talk to your doctor about performing a screening with blood tests to check for G6PD deficiency.

Treating the symptoms associated with G6PD deficiency is usually as simple as removing the trigger — that is, treating the illness or infection or stopping the use of a certain drug. However, a child with severe anemia may require treatment in the hospital to receive oxygen, fluids, and, if needed, a transfusion of healthy blood cells. In rare cases, the deficiency can lead to other more serious health problems.

Caring for Your Child

The best way to care for a child with G6PD deficiency is to limit exposure to the triggers of its symptoms. With the proper precautions, G6PD deficiency should not keep your child from living a healthy, active life.

Bumps and scrapes are a normal part of childhood. For most kids, a tumble off a bike or a stray kick in a soccer game means a temporary bruise or a cut that heals with a scab. However, for kids with hemophilia, these everyday mishaps are cause for concern.

What Is Hemophilia?

Hemophilia is a disease that prevents blood from clotting properly. Clotting helps stop bleeding after a cut or injury. If clotting doesn’t happen, a wound can bleed too much.

Bleeding can be:

• external: on the outside of the body, where it’s visible
• internal: on the inside of the body, where it’s not seen. Internal bleeding of the joints (like the knees or hips) is common in kids with hemophilia.

Hemophilia is a genetic disorder, which means it’s the result of a change in genes that was either inherited (passed on from parent to child) or happened during development in the womb. Hemophilia mostly affects boys — about 1 in every 5,000-10,000. Girls who inherit the gene rarely get the condition, but as carriers of the gene they can pass it to their children.

How Blood Clots

When most people get a cut, the body naturally protects itself. Sticky blood cells called platelets go to where the bleeding is and plug up the hole. This is the first step in the clotting process.

When the platelets plug the hole, they release chemicals that attract more sticky platelets and also activate proteins in the blood known as clotting factors. These proteins mix with the platelets to form fibers, which make the clot stronger and stop the bleeding.

When Blood Doesn’t Clot

In hemophilia, the body doesn’t making enough of certain clotting factors. Our bodies have 13 clotting factors that work together to clot blood. They’re named using Roman numerals from I through XIII, or 1 through 13. Having too little of factors VIII (8) or IX (9) is what causes hemophilia.

There are two major kinds of hemophilia: hemophilia A and hemophilia B. About 80% of cases are hemophilia A, which is a factor VIII deficiency. Hemophilia B is when there is too little factor IX.

Hemophilia can be mild, moderate, or severe, based on the amount of the clotting factor in the blood:

• Mild hemophilia: the body makes 6% to 50% of the affected clotting factor
• Moderate hemophilia: the body makes 2% to 5% of the affected clotting factor
• Severe hemophilia: the body makes less than 1% of the affected clotting factor

In general, a person with milder hemophilia may bleed too much only once in a while. A person with severe hemophilia is at risk for bleeding problems much more often.

Signs and Symptoms

Symptoms of hemophilia vary, depending on the amount of clotting factor a person has and the location of the bleeding.

External bleeding is easy to notice. A child may bleed more than usual after scraping the knee, getting a paper cut, losing a tooth (or having one removed), or biting down on the lips or tongue. Nosebleeds may last a while.

Internal bleeding is harder to identify if you don’t know the signs. These include bruising (especially bruising with swelling), redness, or tenderness in an area, especially a muscle or joint (like the knee). Kids with hemophilia usually can tell when internal bleeding is happening. They often describe a “bubbly” feeling in an area like a joint. The area also may feel achy, stiff, or warm to the touch.

Babies with hemophilia can’t say how they feel, but they do give signs. Once they begin crawling and cruising, parents may notice raised bruises on the stomach, chest, buttocks, and back. A baby also may be fussy and not want to reach for a cup, walk, or crawl.

Other signs of internal bleeding include:

• red or tea-colored urine (pee), called hematuria
• black or bloody feces (poop)
• blood in vomit
• after a head injury, headache, vomiting, lethargy (sleepiness), or seizures

Diagnosis

Few babies are diagnosed with hemophilia in the first 6 months of life because they’re unlikely to have an injury that would lead to bleeding. And even when if do — for example, during a circumcision — many do not bleed enough to signal a problem at that time.

As kids get older and become more active, a doctor may suspect hemophilia if a child bruises easily and bleeds too much when injured.

Diagnosing hemophilia is done with blood tests, including complete blood count (CBC), prothrombin time (PT), activated partial thromboplastin time (PTT), factor VIII level, and factor IX level tests. Doctors also will want to rule out other things that cause a lot of bleeding or bruising, such as liver disease, certain medicines, and even child abuse.

Managing Hemophilia

Hemophilia is a lifelong condition with no cure other than liver transplantation, a procedure that can sometimes cause health problems more serious than hemophilia itself.

But hemophilia can be successfully managed by knowing when and how to treat a bleeding episode, and getting regular treatments that replace the missing clotting factor.

Factor Replacement Therapy

Factor replacement therapy helps blood to clot and prevents long-term joint damage due to bleeding. It can be given while a bleeding episode is happening to promote clotting, or in regularly scheduled treatments to keep the blood healthy.

The therapy is “infused” in the blood — given through an intravenous (IV) line either at a clinic or at home by a visiting nurse or by parents (and patients themselves) who have had special training. Once the clotting factor is in the blood, it begins to work quickly.

About a quarter of children with severe hemophilia A develop inhibitors (antibodies to the clotting factor). Their bodies view the new clotting factor as an invader and develop antibodies that block its clotting action. This can make the hemophilia difficult to treat.

One method for overcoming the inhibitors is by carefully infusing larger amounts of the clotting factor over time. This way the body will start to recognize the clotting factor without trying to attack it. Inhibitors to factor IX (hemophilia B) are less common and harder to treat.

There is also a medicine called recombinant factor VII that can help prevent the body from developing inhibitors. This medicine activates another part of the clotting process directly, so that the missing factors are no longer needed to clot blood.

Treating an External Bleed

In most kids with hemophilia, everyday cuts and scrapes can be treated with common first aid measures. The important thing is to give treatment right away (which may include giving a treatment of clotting factor therapy, if needed). Keep all necessary items handy (like a first aid kit) at school, home, and in the car. Also, make sure that all caregivers know what to do in an emergency.

For small (superficial) cuts and scrapes, rinse the cut or wound with water and apply pressure with sterile gauze, a bandage, or a clean cloth. If the bleeding does not stop, your child may need a treatment of factor replacement therapy. If you cannot give it, take your child to the doctor’s office or hospital right away for treatment.

Severe cuts usually require a treatment of factor replacement therapy. If the cut is severe and you can’t get your child to a hospital right away or must wait for an ambulance, do the following:

• Rinse the cut or wound with water and apply pressure with sterile gauze, a bandage, or a clean cloth.
• If blood soaks through the bandage, place another bandage over the first and keep applying pressure.
• Raise the injured body part to slow bleeding.
• When bleeding stops, cover the wound with a new, clean bandage.

Your child may bleed more in some situations than in others, especially when certain areas of the body are affected. Ask your doctor about these situations so that you know what to expect and can be prepared.

Treating an Internal Bleed

Internal bleeding must be treated promptly with factor replacement therapy. Prolonged bleeding can cause serious health problems. For example, a buildup of blood in the joints can wear down the smooth surfaces that allow limbs to bend easily. As the surfaces roughen, irritation and the number of bleeds can increase. This cycle can lead to chronic joint damage that may require surgery to remove the damaged joint tissue.

Learn the signs of an internal bleed, and ask your doctor what to look for. An older child should be encouraged to always tell you when he or she senses a bleed — the sooner it is discovered, the quicker your child can get treatment.

If your child has an internal bleed, give factor replacement therapy treatment if you’ve been instructed to do so by your doctor, or go to the hospital. Doctors recommend splinting the affected area for a short period of time and then applying ice to ease inflammation, promote clotting, and relieve pain.

Acetaminophen (such as Tylenol) is the preferred pain reliever because many other over-the-counter pain medications contain aspirin or NSAIDs (non-steroidal anti-inflammatory drugs, such as ibuprofen or naproxen sodium), which can affect blood platelets and lead to increased bleeding.

Preventing Bleeding Problems

Parents can help kids with hemophilia prevent problems by encouraging healthy behaviors, including:

• Regular exercise. Exercise can strengthen muscles and help decrease bleeding from injuries. Swimming is a great sport for kids with hemophilia because it exercises all the muscle groups without putting stress on the joints.
• Keeping a healthy weight. Extra weight can strain parts of the body and increase bleeding risks. If your child is overweight, speak to your doctor for advice on weight management.
• Caring for the teeth. Make sure that your child is brushing his or her teeth twice a day, flossing regularly, and drinking fluoridated water to keep the teeth as healthy as possible. This will make it less likely for the gums to bleed or for your child to need dental surgery. Routine cleanings can sometimes cause bleeding. Find a dentist who has experience with patients who have hemophilia and who knows how to handle bleeding if it happens.

To help prevent bleeding problems, doctors use caution when treating children with hemophilia. For example, when giving immunization shots that are normally given in the muscle, doctors instead inject the shots into a deep area under the skin called the subcutaneous tissue. It’s important to remember that kids with hemophilia need all recommended vaccines.

Many patients with severe hemophilia prevent “bleeds” with regular clotting factor infusions (usually two or three times per week). Some young children get a central venous catheter (a hollow, soft tube) inserted surgically into a vein, which lets them get clotting factors without pain.

Caring for Kids, Age by Age

Babies and Toddlers

If your baby is diagnosed with hemophilia, put bumper pads in the crib, cushion furniture with sharp edges, and put gates across stairs to prevent falls. Bumper pads are not recommended for children in general, but an exception can be made for infants with hemophilia.

As your baby begins to crawl and walk, special knee and elbow pads can offer protection against joint bleeds. Some parents sew a pocket in the seat of their child’s pants and pad it with a piece of diaper. If your house has ceramic tile or hardwood floors, consider installing carpet or buying rugs to soften the floor surface. And tape down the edges of carpets so your child doesn’t trip on them.

Depending on how energetic and adventurous your toddler is, you might want to have him or her wear a helmet to protect against head injuries.

Preschoolers

The preschool years — when children are becoming more independent — can be one of the most challenging times for kids with hemophilia and their parents. For example, a preschooler may not tell mom and dad about an injury that resulted from doing something that’s not allowed (riding a bike without a helmet, jumping on the furniture, running in the house, etc.). Most kids, though, will discover that prompt treatment is better than waiting until pain and swelling become severe.

Big Kids and Teens

As children get older, it’s helpful to involve them as much as possible in their own care. This can include teaching them how to give their own factor injections and having them track their treatments.

Kids with hemophilia can still participate in activities, though they might have to take on a different role. For example, hemophilia might prevent kids from participating in contact sports, but they can still be a part of the team as the scorekeeper or assistant manager. Swimming, hiking, golf, and other low-impact sports are good options for kids with hemophilia.

Another option is to send them to a summer camp where they can meet other kids with hemophilia and work toward being able to give themselves clotting factor replacement therapy for a sense of control over the condition. Ask your doctor about finding a camp near you.

Ask your family members, caregivers, and your child’s teachers if they would like to learn more about hemophilia by meeting with your doctor or other members of your child’s care team.

When to Call the Doctor

Certain bleeds need medical attention. If your child develops a swollen joint, this could be a sign of bleeding in the joint, so call the doctor right away. Also, if your child gets hurt or you suspect your child has bleeding or bruising anywhere on the body, call the doctor.

If your child has a central venous line and develops a fever, call the doctor right away. This could be a sign of a central line infection.

Go to the emergency room if your child has:

• an injury to the head, neck, belly, or back
• bleeding that is not stopping
• severe belly pain or difficulty moving
• red or tea-colored urine
• bloody or black poop

If the bleed requires going to the emergency room, make sure your child is treated at a hospital that has experience treating hemophilia.

Looking to the Future

Tremendous advances have been made in the treatment of hemophilia, and most patients can now lead full, healthy lives with careful management of their condition.

The development of clotting factors made in the laboratory has virtually eliminated the danger of infusion-related infection with HIV or hepatitis viruses from clotting factor replacement therapy. And regular home-based infusions have helped reduce chronic joint problems.

In the future, people with hemophilia may have access to continuous infusion of clotting factors under the skin or in pill form. Some doctors are also encouraged by research involving gene therapy.

Thanks to advances like these, kids with hemophilia can participate in more activities and have the freedom to lead more active lives.

Seven years ago, my daughter Madi was a very active, creative, outgoing kindergartner. She was a happy and healthy 5-year-old.

That February things started changing. Her teacher was reporting that Madi seemed tired, pale, and “spacy” before lunch, and was having trouble paying attention. And after lunch Madi started complaining that her stomach hurt, and she seemed lethargic and occasionally cried for no apparent reason. Though Madi had always loved school, I was concerned that she was having trouble adjusting.

Soon, Madi began complaining of being thirsty all the time, requesting drinks in the middle of the night, and then wetting the bed. Her height and weight weren’t increasing as they should have been.

In March, after eating a piece of candy after ballet class Madi felt nauseous and was glassy eyed. Her dad has type 1 diabetes, as does my mom, so as much as I didn’t want to, deep down I knew what was happening. We tested her blood sugar that night: It was 585, a number I won’t ever forget.

We went to the emergency room. At the hospital, it took more than an hour for five medical technicians to get an IV started. Once they were able to start Madi on insulin, she quickly turned back into the loving, easy-going child I knew. But she was very scared. Each time they tested her blood sugar, Madi insisted on having a Band Aid. Each injection required a Band Aid too. By the end of the day she was covered in Band Aids, but no closer to accepting her illness.

The next day she met with a dietitian and a diabetes educator. When her pediatrician visited, she tried hard to get him to say that it would “go away” once she was released from the hospital.

As Madi struggled to understand her diagnosis, her dad and my mom struggled with feelings of guilt about possibly passing diabetes on to Madi.

Once Madi realized that diabetes does not go away, she accepted responsibility for testing her own blood sugar. (She also learned that her life would be easier if her fingers were not covered in Band Aids.) Within a few months of diagnosis, Madi was giving her own injections and learning to count carbohydrates in foods. She joked that having diabetes helped her learn her numbers to 600 while other kindergartners were still trying to learn their numbers to 20.

Finding Control and Freedom

Madi decided early on that she would not allow diabetes to get in her way, and determined to make it a positive part of her life. She became involved with the American Diabetes Association (ADA).

Although Madi has never been a child who sneaks treats, her blood sugars have always been difficult to manage. She is very active. At age 7, Madi was up to seven insulin shots a day just to regulate her blood sugar. Even with intensive management, she had frequent highs and lows. Madi was always careful about what she ate and diligently counted carbohydrates, but she seemed no closer to control than she was when she was diagnosed.

For 2 years, Madi’s dad tried to convince her to look into an insulin pump, which he had had success with. She wasn’t ready, but she eventually came around. In the second grade, she went to the nurse after lunch at the same time as a friend who wore an insulin pump. When Madi saw how quickly he could press a few buttons on his pump and return to class, she was impressed. She decided she was ready.

Now she loves the freedom her pump provides. Before, there were times Madi went to bed hungry because she would mentally weigh every small snack to decide whether it was worth it enough to have to take a shot. Having the insulin pump made it so that she could have occasional snacks and not have to make those decisions.

Six months after starting the pump, Madi learned to insert her own pump catheter into her skin and to fill the insulin reservoirs. Even though it could hurt to insert a new pump catheter, she found it preferable to taking seven shots a day!

And we soon began to see positive changes in her blood sugar levels. She was not dropping so far and so quickly during the night and she seemed more consistent during the day. We did not see immediate changes in Madi’s A1c readings (tests of her blood sugar levels, taken every few months) but within a year they were back into a more acceptable range.

One Active Kid

Today at age 12, Madi continues to work hard to keep her diabetes under control. She is very active, plays roller hockey, and is involved with dance, drama, singing, and children’s theater. As a youth ambassador for the ADA, she has organized numerous fundraisers for the ADA, from raffles to selling ADA beanie bears to the annual “Skate 4 a Cure” events. Last year alone Madi raised $10,000 for the ADA!

Madi also writes letters to public officials, congressmen, and even the president about the need for research funding. When she hears about other kids who are diagnosed, she puts together decorated bags for them with crafts, a stuffed animal, carbohydrate counting cards, an ADA wristband, information about diabetes, and a note offering her friendship and help. She gives speeches and distributes information at community events.

As Madi’s mom, I ache over the things that she has to do every day and the things that she thinks about every minute. I know she worries about what obstacles she’ll face. She knows of the potential consequences of not keeping her diabetes under control over the long term. She works hard to keep her body healthy.

Madi used to think that when she grows up she’d go into diabetes advocacy, but says she’s working so hard to help find a cure that she hopes those occupations aren’t needed when she’s older. So, she has decided to become a performance artist so she can make people smile. She makes me smile every day.

Some boys are slower to develop than their peers, and many boys are quiet and shy. There’s a normal range when it comes to physical and social development. But sometimes these qualities show up alongside learning problems or trouble paying attention in school. When this happens, it could be an indication that something else is going on.

If you’re worried about your son’s emotional or physical development, talk to your doctor. Occasionally, symptoms like these can be linked to a condition called Klinefelter syndrome.

About Klinefelter Syndrome

Klinefelter syndrome, also known as XXY syndrome, is a fairly common genetic condition found in males only. It occurs when a boy is born with an extra sex chromosome in most or all of his cells. Many boys with Klinefelter syndrome have no signs or symptoms, and some don’t even know they have it until later in life.

Klinefelter syndrome typically causes a boy’s testicles to grow at a slower rate than those of other boys. It also prevents the testicles from producing normal amounts of sperm and the hormone testosterone. Testosterone affects the way a boy develops both physically and sexually. Low hormone levels and problems with sperm production make it difficult or sometimes impossible for a boy with Klinefelter syndrome to father a child later in life.

The XXY condition that causes Klinefelter syndrome can’t be changed, but medical treatment and working with therapists can help a boy’s development and help lessen the condition’s effects. Even without treatment, most boys with Klinefelter syndrome grow up to live productive, healthy lives.

Cause

Everyone’s genetic material, or DNA, is contained in tiny structures called chromosomes that are found inside their cells. A person’s physical gender (whether they have male or female sex organs) is determined by their sex chromosomes. Females have two X chromosomes, or XX. Most males have one X chromosome and one Y chromosome, or XY. Males with Klinefelter syndrome are born with cells that have an extra X chromosome, or XXY.

Klinefelter syndrome is a genetic condition, meaning people are born with it, but it’s not passed down through families like some genetic diseases. Instead, Klinefelter syndrome occurs randomly due to an error in cell division when a parent’s reproductive cells are being formed. If one of these defective cells contributes to a successful pregnancy, the baby will have the XXY condition in some or all of his cells. Some boys will even have more than two X chromosomes (XXXY or XXXXY, for example), which increases the risk of severe symptoms and other health concerns.

When a boy is born with the XXY condition in only some of his cells, it’s called mosaic Klinefelter syndrome. Often, boys and men with this condition can have milder signs and symptoms than others with the XXY condition.

Signs & Symptoms

Not all boys with Klinefelter syndrome will have noticeable symptoms. Other boys can have symptoms that are physically apparent or problems with speech, learning, and development.

Babies with Klinefelter syndrome typically have weak muscles, reduced strength, and quiet personalities. They also can take longer to do things like sit up, crawl, walk, and speak.

Compared with other kids their age, boys with Klinefelter syndrome might have some or all of the following symptoms:

• a taller, less muscular body
• broader hips and longer legs and arms
• larger breasts (a condition called gynecomastia)
• weaker bones
• a lower energy level
• smaller penis and testicles
• delayed or incomplete puberty (some boys won’t go through puberty at all)
• less facial and body hair following puberty

In addition to physical symptoms, many boys with Klinefelter syndrome will also show symptoms related to their development of social and language skills. They may have difficulty paying attention. A lot of boys learn to talk late or have trouble using words to express their emotions. They also can have trouble with things like learning to spell, read, and write.

Socially, boys with Klinefelter syndrome tend to have quiet, docile personalities. They rarely cause trouble and are often more helpful and thoughtful than other boys. They are often shy and sensitive, and many are less self-confident and less active than other boys their age.

Since boys with Klinefelter syndrome can have problems with schoolwork and sports, they may feel like they don’t fit in with other kids their age. But by the time they are men, most will have normal social relationships with friends, family members, and others.

Related Problems

The main complications of Klinefelter syndrome are related to problems with speech, learning, and physical and social development. Most boys aren’t likely to have major health problems, but the condition can bring some other challenges later in life. Klinefelter syndrome puts males at greater risk of breast cancer, some other cancers, and some other diseases like type 2 diabetes, varicose veins and problems with blood vessels, problems with sexual function, and osteoporosis (weak bones) later in life.

Most boys with Klinefelter syndrome can have sex when they become men, usually with the help of testosterone treatment. However, problems with their testicles prevent them from making enough normal sperm to father children.

The vast majority of men with Klinefelter syndrome are infertile and can’t father a child the normal way. At present, options for becoming natural parents are limited, but fertility researchers are working on new treatments. By the time a child with Klinefelter syndrome is ready to become a dad, there may be new options.

Diagnosis

Since Klinefelter syndrome can be hard to notice, many parents don’t know their son has it until he grows up or shows delays in puberty. Sometimes, parents who are worried about their son’s development consult a doctor, and the diagnosis reveals Klinefelter syndrome. This can help, because the earlier a boy is diagnosed with Klinefelter syndrome, the more effective the treatments usually are.

To diagnose cases of Klinefelter syndrome, doctors usually begin by asking about any learning or behavior issues and examining the boy’s testicles and body proportions.

There are two main types of tests used in the diagnosis of Klinefelter syndrome:

1. Hormone testing, which is usually done by taking a blood sample to check for abnormal hormone levels.
2. A chromosome analysis, or karyotype, which is usually done on a blood sample. This test checks the number of chromosomes to see if the XXY syndrome is present.

Treatment

There’s no way to change the XXY condition if a boy is born with it, but treatments can help relieve some of the symptoms. As with many conditions, beginning treatment early can greatly increase its effectiveness.

Testosterone replacement therapy (TRT) works by increasing a boy’s testosterone levels into the normal range. Additional testosterone can help a boy with Klinefelter syndrome develop bigger muscles and a deeper voice, as well as promote growth of the penis and facial and body hair. It can also help improve bone density and reduce the growth of a boy’s breasts. Testosterone therapy cannot increase the size of a boy’s testicles or prevent or reverse infertility, however.

Educational support services can help boys and teens with Klinefelter syndrome keep pace in school. Many benefit from extra assistance when it comes to schoolwork. If your son has Klinefelter syndrome, let his teachers and school nurse know about his condition and see what kind of support is available. He may be eligible for an individualized education plan (IEP) or 504 education plan, which both can provide accommodations for kids with special needs.

Speech therapy and physical therapy can help boys with Klinefelter syndrome learn to speak, read, and write better, or improve muscle strength and coordination.

Other forms of therapy include behavioral, mental health, and occupational therapy. These can help improve low self-confidence, shyness, and delayed social development.

Supporting Your Son

It can be difficult for boys with this condition, who feel like they’re developing differently from their peers. They’re more likely to have low self-esteem, which can make things harder socially and academically.

If your son is struggling in school or having trouble making friends, talk to your doctor, school principal, or school counselor. Counselors and therapists can give boys practical skills to help them feel more confident in social settings. And many schools provide supplementary educational services or accommodations that can help your son succeed.

About Marfan Syndrome

Marfan syndrome is a progressive genetic disorder that affects the body’s connective tissue. Connective tissue is everywhere in the body, providing structure and support for cells. Think of it as a sort of “glue” that helps support every organ, blood vessel, bone, joint, and muscle.

In people with Marfan syndrome, this “glue” is weaker than normal because of a defect in the body’s production of the protein fibrillin, a major component of connective tissue. Weakened connective tissue can lead to problems in many parts of the body, especially the heart, eyes, and bones.

Even though the disease has no cure, the good news is that doctors can successfully treat just about all of its symptoms. Just a few decades ago, most people with Marfan syndrome didn’t live past 40 years old. Now, thanks to new research and treatments, those who are diagnosed early and get good medical care have just about the same lifespan as everyone else.

Research on a group of medicines called ARBs (angiotensin receptor blockers) has been extremely promising and has improved the health of people with Marfan syndrome.

Causes

Marfan syndrome is pretty rare, affecting about 1 in every 5,000 people. Researchers have traced the disorder to a defect in a gene found on chromosome 15. It’s this mutation (change) that causes the abnormality in the production or the structure of fibrillin.

About 75% of the time, the gene for Marfan syndrome runs in families, getting passed down to kids from parents who have the disease. The gene change is inherited as autosomal dominant, which means every child born to a parent who has Marfan syndrome has a 50% chance of having it too.

In the remaining 25% of cases, though, neither parent has the disease; the genetic mutation responsible for Marfan syndrome happens spontaneously in either the egg or sperm cell at the time of conception. No one knows what causes this mutation, but those born with it have a 50% chance of passing it on to their kids.

Although people with Marfan syndrome often have similar physical features, the disease doesn’t affect everyone in the same way. Some have very mild symptoms, while others have severe ones — even within the same family. This is known as “variable expression,” and it makes it almost impossible to predict how the disease will progress in any affected individual.

Signs and Symptoms

People with Marfan syndrome are often (but not always) much taller than their family members and peers and have a lean, lanky build. Their fingers and toes are usually long and thin, and their joints are loose. Their arms and legs are often disproportionately long compared with their torso, and their arm span is often a lot greater than their height.

They may share some facial characteristics, too, including a long, thin face; deep-set eyes; a small jaw; a high, arched roof of the mouth; and crowded teeth.

Complications

People with Marfan syndrome are also at risk for complications in the following body systems:

Heart and Blood Vessels

The most serious complication of Marfan syndrome involves the heart. Over time, the disorder can cause the aorta — the large artery that carries blood away from the heart to the body — to stretch and dilate (widen).

If undetected or untreated, the wall of the aorta eventually can begin to tear and separate, allowing blood to leak through (this is known as an aortic dissection). A large, sudden rupture can be fatal.

Problems with the heart valves are common too. Instead of closing tightly, valves (usually the mitral and/or aortic valves) may become large and floppy, letting blood leak backward through the heart. A minor leak may cause few symptoms, but a large one can cause shortness of breath and an irregular heartbeat, as well as a heart murmur. Leaky heart valves cause the heart to work harder and become enlarged, so they must be carefully monitored.

Eyes

More than half of all people with Marfan syndrome have a condition known as ectopia lentis (lens dislocation). That means the lenses of the eye, which are usually centered behind the pupil and held in place with connective tissue, may shift out of the normal position, usually upward and outward. Vision problems can follow, depending on the position of the lens. Kids who develop vision problems may wear glasses at first, but might need surgery later.

People with Marfan syndrome also often have myopia (nearsightedness) and are at greater risk for developing other eye problems — like detached retinas (when the light-sensing tissue at the back of the eye comes loose), glaucoma (high pressure in the eye), or cataracts (cloudy lenses) — earlier in life than other people. Young children are especially prone to developing strabismus and possibly amblyopia.

Skeletal Problems

In addition to excessive height and unusually long limbs, Marfan syndrome may cause other skeletal problems, such as scoliosis (abnormal curvature of the spine) and chest wall abnormalities in which the chest bone may either curve in or stick out, giving the chest a sunken-in or a pigeon-breasted appearance. Overly loose joints and flat feet are common.

Other symptoms may affect the skin, nervous system, and lungs, but these tend to be less common and less serious, especially in kids and teens.

Diagnosing Marfan Syndrome

Diagnosing Marfan syndrome usually involves detailed exams by different doctors, including a geneticist (a doctor who specializes in inherited disorders), a cardiologist (heart specialist), ophthalmologist (eye doctor), and an orthopedist (bone specialist). Molecular testing for a mutation in the FBN1 gene is often part of the comprehensive evaluation.

First, a geneticist will ask about any family history of the disorder or whether any relatives died early from heart-related deaths. He or she may also take detailed skeletal measurements. The geneticist might do mutation testing on a small blood sample.

A cardiologist will listen for a heart murmur and perform tests such as:

• a chest X-ray
• an electrocardiogram (EKG), which measures electrical activity in the heart
• an echocardiogram, which uses sound waves to produce a picture of the heart to check the size of the aorta and the functioning of the valves

An ophthalmologist may perform a “slit lamp” test (a slit lamp allows the doctor to see the front of the eye under high magnification) while the eyes are dilated to check for lens dislocation and any other abnormalities.

An orthopedist will check for curvatures of the spine and chest bone, as well as joint problems and flat feet.

Diagnostic Criteria

The criteria for diagnosis of Marfan syndrome are complex, mainly because many features of the syndrome also appear in the general population (obviously, not every tall, thin person with long fingers has the disorder), and because other connective tissue diseases have similar features. In 2010, the criteria were revised to consider the presence of a mutation in the FBN1 gene in the evaluation.

If a family history is already known, a diagnosis of Marfan syndrome can be based upon problems in two of the body systems known to be affected.

If there’s no family history, diagnosis requires very specific findings in several different systems. This can be frustrating for parents because symptoms may not appear during childhood but emerge over time. Finding a mutation in the FBN1 gene can help confirm a diagnosis.

Fortunately, doctors can treat symptoms even before there’s a firm diagnosis.

Monitoring and Treatment

Kids and teens with Marfan syndrome must be followed closely by a team of doctors. Because their bodies grow and change so quickly, most will need echocardiograms at least once a year, plus frequent eye and bone exams. This helps doctors stay on top of any new problem.

Kids and teens with Marfan syndrome can do many things to help keep themselves healthy. The most important is to avoid putting extra stress on the heart. That means avoiding contact sports or any activity that involves a lot of running, muscle straining, or the risk of a blow to the chest — things like basketball, football, baseball, gymnastics, weightlifting, and track, to name a few.

Keeping Active

Kids with Marfan syndrome should not be couch potatoes. They can and should play, exercise, and generally be active — they just have to learn to be a little more careful. Although a doctor should always have the final say about what activities are safe, things like non-competitive bike riding, swimming, dancing, walking — anything that’s low-impact and can be done at a slower pace — usually get the green light.

Many of the complications of Marfan syndrome can be managed with medicines and, if necessary, surgery. Medications known as beta blockers and ARBs work to lower blood pressure and reduce wear and tear on the blood vessels, and often can delay the progression of aortic dilation. If the aorta does eventually widen to a potentially dangerous size, or if valve leakage becomes a problem, surgery may be recommended either to repair or replace the damaged parts of the heart.

Kids who are nearsighted or who have strabismus probably will have to wear glasses. Teens may be able to wear contact lenses. In some cases, if the lens of the eye becomes significantly dislocated or if there are other complications, surgery may be necessary.

Kids who develop scoliosis may have to wear a special back brace. Sometimes severe cases of scoliosis and chest wall abnormalities may require surgery. Some teens may want to have surgery for cosmetic reasons.

Anyone with heart problems associated with Marfan syndrome (especially anyone who’s had heart surgery) should always take antibiotics before going to the dentist to prevent bacterial endocarditis, an infection of the walls of the heart caused when bacteria enter the bloodstream.

It is recommended that kids and teens with Marfan syndrome wear a medical alert bracelet, in case there is an accident and the patient can’t explain his or her medical condition.

Teen girls with Marfan syndrome should also be made aware that pregnancy puts extra strain on the heart and may increase the risk of damage to the aorta.

Caring for Your Child

It’s not easy to learn your child has a genetic disorder. It’s normal to have a whole range of emotions, from fear and anger to sadness and guilt. But the genetic mutation that causes Marfan syndrome is nobody’s fault and could not have been prevented.

The first thing you can do to help your child is to educate yourself and seek doctors who are knowledgeable about the disease and its management. An experienced medical team is your child’s best chance to prevent or delay complications. Your family also may benefit from a visit with a genetic counselor.

Other tips for helping your child cope:

• Be honest when faced with questions about the disease, from your child or others. Your child will be reassured that you’re at ease discussing it.
• Promote healthy self-esteem and body image from an early age by acknowledging your child’s differences in a positive light. Also teach your child constructive ways to deal with teasing.
• Try to guide younger kids gently toward activities they won’t have to give up later — for example, encourage non-competitive swimming over basketball. If your child is older when diagnosed and is forced to give up some favorite sports, encourage the development of other talents and interests.
• Keep in touch with teachers and explain that even though Marfan syndrome doesn’t affect your child’s intelligence, some modifications may be needed in class (such as letting your child sit near the board if vision is a problem).

Finding Safe Activities

• Talk to the P.E. teacher about safe vs. unsafe activities, and ask that your child be included even when he or she cannot compete (for example, if your child can’t play in the soccer game, can he or she be the scorekeeper?).
• Encourage exercising. Staying active is important for everyone, including kids with Marfan syndrome, so ask your doctor for a list of appropriate activities.
• Above all, remember that kids need to be kids! Children with Marfan syndrome need to play and laugh and learn that there’s so much more they can do than they can’t.

If you or your child needs help adjusting to a diagnosis of Marfan syndrome, look for a support group near you or seek professional counseling.

When to Call the Doctor

Although aortic dissections are extremely rare in kids, call the doctor if your child has chest pain, shortness of breath (especially during exercise), an irregular pulse, sudden weakness or tingling in the legs and arms, or an unexplained fever. Also call the doctor if your child experiences any sudden vision changes.

About MD

Muscular dystrophy (MD) is a genetic disorder that gradually weakens the body’s muscles. It’s caused by incorrect or missing genetic information that prevents the body from making the proteins needed to build and maintain healthy muscles.

A child who is diagnosed with MD gradually loses the ability to do things like walk, sit upright, breathe easily, and move the arms and hands. This increasing weakness can lead to other health problems.

There are several major forms of muscular dystrophy, which can affect the muscles to varying degrees. In some cases, MD starts causing muscle problems in infancy; in others, symptoms don’t appear until adulthood.

There is no cure for MD, but researchers are quickly learning more about how to prevent and treat it. Doctors are also working on improving muscle and joint function and slowing muscle deterioration so that those with MD can live as actively and independently as possible.

First Symptoms

Many kids with muscular dystrophy follow a normal pattern of development during their first few years of life. But in time they develop problems with movement. A child who has MD may start to stumble, waddle, have difficulty going up stairs, and toe walk (walk on the toes without the heels hitting the floor). A child may start to struggle to get up from a sitting position or have a hard time pushing things, like a wagon or a tricycle.

Kids with MD often develop enlarged calf muscles (called calf pseudohypertrophy) as muscle tissue is destroyed and replaced by fat.

Diagnosis

When first suspecting that a child has muscular dystrophy, a doctor will do a physical exam, take a family history, and ask about any problems — particularly those affecting the muscles — that the child might be having.

In addition, the doctor may do tests to see what type of MD is involved and to rule out other diseases that could cause the problem. These might include a blood test to measure levels of serum creatine kinase, an enzyme that’s released into the bloodstream when muscle fibers are breaking down. High levels indicate that something is causing muscle damage.

The doctor also may do a blood test to check the DNA for gene defects or do a muscle biopsy. In a muscle biopsy, the doctor surgically removes a small sample of muscle and looks at it under the microscope. The muscle cells of a person with MD have changes in appearance and could have low levels of dystrophin, a protein that helps muscle cells keep their shape and length.

Types of Muscular Dystrophy

The different types of muscular dystrophy affect different sets of muscles and cause different degrees of muscle weakness.

Duchenne muscular dystrophy is the most common and the most severe form of MD. It affects about 1 out of every 3,500 boys. (Girls can carry the gene that causes the disease, but they usually have no symptoms.) This form occurs because of a problem with the gene that makes dystrophin. Without this protein, the muscles break down and a child becomes weaker.

Children with Duchenne MD usually begin to have problems around age 5, as the pelvic muscles begin to weaken. Most kids with this form need to use a wheelchair by age 12. Over time, their muscles weaken in the shoulders, back, arms, and legs.

Eventually, the respiratory (breathing) muscles and heart muscle also may weaken in the teenage years, requiring further treatments. Although most kids with Duchenne MD have average intelligence, about a third experience learning disabilities and a small number are intellectually disabled.

Advances in medical care are helping kids with Duchenne to live longer and healthier lives.

While the incidence of Duchenne is known, it’s unclear how common other forms of MD are because the symptoms can vary so widely between individuals. In fact, in some people the symptoms are so mild that the disease goes undiagnosed.

Becker muscular dystrophy is similar to Duchenne, but is less common and progresses more slowly. This form of MD, which affects about 1 in 30,000 boys, is caused by insufficient production of dystrophin, too.

Symptoms begin during the teen years, then follow a pattern similar to Duchenne MD. Muscle weakness first begins in the pelvic muscles, then moves into the shoulders and back. Many children with Becker MD have a normal life span and can lead long, active lives without the use of a wheelchair.

Myotonic dystrophy, also known as Steinert’s disease, is the most common adult form of MD, although half of all cases are diagnosed in people under 20 years old. It is caused by a portion of a particular gene that is larger than it should be. The symptoms can appear at any time during a child’s life.

The main symptoms include muscle weakness, myotonia (in which the muscles have trouble relaxing once they contract), and muscle wasting (when the muscles shrink over time). Kids with myotonic dystrophy also can have cataracts and heart problems.

Limb-girdle muscular dystrophy affects boys and girls equally. Symptoms usually start when kids are between 8 and 15 years old. This form progresses slowly, affecting the pelvic, shoulder, and back muscles. The severity of muscle weakness varies — some kids have only mild weakness while others develop severe disabilities and as adults need to use a wheelchair.

Facioscapulohumeral muscular dystrophy can affect both boys and girls, and the symptoms usually first appear during the teen years. It tends to progress slowly. Muscle weakness first develops in the face, making it difficult for a child to close the eyes, whistle, or puff out the cheeks. The shoulder and back muscles gradually become weak, and kids have trouble lifting objects or raising their hands overhead. Over time, the legs and pelvic muscles also may lose strength.

Other types of MD, which are rare, include distal, ocular, oculopharyngeal, and Emery-Dreifuss.

Caring for a Child With MD

There’s no cure for MD yet, but doctors are working to improve muscle and joint function, and slow muscle deterioration.

If your child is diagnosed with MD, a team of medical specialists will work with you and your family, including: a neurologist, orthopedist, pulmonologist, physical and occupational therapist, nurse practitioner, cardiologist, registered dietician, and a social worker.

Muscular dystrophy is often degenerative, meaning that it slowly affects more organs and can’t be reversed. So, kids may pass through different stages as it progresses and need different kinds of treatment. During the early stages, physical therapy, joint bracing, and medications are often used.

During the later stages, doctors may use assistive devices, such as:

• physical therapy and bracing to improve flexibility
• power wheelchairs and scooters to improve mobility
• a ventilator to support breathing
• robotics to help perform routine daily tasks

Physical Therapy and Bracing

Physical therapy can help a child maintain muscle tone and reduce the severity of joint contractures with exercises that keep the muscles strong and the joints flexible.

A physical therapist also uses bracing to help prevent joint contractures, a stiffening of the muscles near the joints that can make it harder to move and can lock the joints in painful positions. By providing extra support in just the right places, bracing can extend the time that a child with MD can walk independently.

Prednisone

If a child has Duchenne muscular dystrophy, the doctor may prescribe the steroid prednisone to help slow the rate of muscle deterioration. By doing so, the child may be able to walk longer and live a more active life.

There is some debate over the best time to begin prednisone treatment, but most doctors prescribe it when a child is 5 or 6 years old or when the child’s strength begins to significantly decline. Prednisone does have side effects, though. It can cause weight gain, which can put even greater strain on already weak muscles. It also can cause a loss of bone density and, possibly, lead to fractures. If prescribing prednisone, your doctor will closely monitor your child.

Spinal Fusion

Many children with the Duchenne and Becker forms of MD develop severe scoliosis — an S- or C-shaped curvature of the spine caused by back muscles that are too weak to hold the spine upright.

Some kids with severe cases undergo spinal fusion, a surgery that can reduce pain and lessen the curvature so a child can sit upright and comfortably in a chair. This surgery ensures that the spine curvature doesn’t have an effect on breathing. Usually, spinal fusion surgery only requires a short hospital stay.

Respiratory Care

Many kids with muscular dystrophy also have weakened heart and respiratory muscles. As a result, they can’t cough out phlegm and sometimes develop respiratory infections that can quickly become serious. Good general health care and regular vaccinations are especially important for children with muscular dystrophy to help prevent these infections.

Assistive Devices

A variety of new technologies can provide independence and mobility for kids with muscular dystrophy.

Some kids with Duchenne MD might use a manual wheelchair once it becomes difficult to walk. Others go directly to a motorized wheelchair, which can be equipped to meet their needs as muscle deterioration advances.

Robotic technologies also are under development to help kids move their arms and perform activities of daily living.

If your child would benefit from an assistive technological device, contact your local chapter of the Muscular Dystrophy Association to ask about financial assistance that might be available. In some cases, health insurers cover the cost of these devices.

The Search for a Cure

Researchers are quickly learning more about what causes the genetic disorder that leads to muscular dystrophy, and about possible treatments for the disease.

To learn more about the most current research on MD, contact the local chapter of the Muscular Dystrophy Association or talk to your doctor, who also can tell you about clinical trials on MD.

About Neurocutaneous Syndromes

Neurocutaneous syndromes are disorders that lead to growth of tumors in various parts of the body. They’re caused by the abnormal development of cells in an embryo and characterized by the tumors in various parts of the body (including the nervous system) and by certain differences in the skin.

While some can be diagnosed at birth, others don’t produce symptoms until later in life. Although neurocutaneous syndromes can’t be cured, treatments can help manage symptoms and any health problems that occur.

Recently, important advances have been made in using DNA testing to confirm these syndromes in some people.

Types of Neurocutaneous Syndromes

Common neurocutaneous syndromes that affect kids include:

• neurofibromatosis, types 1 and 2 (NF1 and NF2)
• Sturge-Weber syndrome
• tuberous sclerosis (TS)
• ataxia-telangiectasia (A-T)
• von Hippel-Lindau disease (VHL)

Symptoms vary widely from condition to condition, and they affect different kids in different ways. Often, the full effects of these diseases — even if detected at birth — don’t emerge until a child grows up. The educational, social, and physical problems that the conditions cause must be managed throughout a child’s life.

Neurofibromatosis

Neurofibromatosis is one of the most common neurocutaneous syndromes. It can cause tumors involving the nerves, brain, and other organs.

Neurofibromatosis is usually inherited, but up to half of cases happen because of spontaneous changes (mutations) in a person’s genes. Once a mutation occurs, the changed (mutant) gene can be passed on to children. The child of a parent with neurofibromatosis has a 50% chance of inheriting the disorder.

The three forms of this disorder are neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and Schwannomatosis. NF1 is the most common, accounting for about 90% of all cases.

Neurofibromatosis Type 1

NF1 (also known as von Recklinghausen disease) occurs in about 1 in 2,500 babies born worldwide. To diagnose NF1, doctors take a thorough medical and family history because children with NF1 often have a parent with the disease.

The classic sign of NF1 are skin pigmentary findings known as “café-au-lait” spots. These light brown or coffee-colored birthmarks may be present at birth. They typically increase in size and number during the first two years of life. A child diagnosed with NF1 must have at least six café-au-lait spots of a certain size. The spots are flat, don’t itch or hurt, and don’t turn into anything more serious.

Other common signs are freckling in the armpits and groin, as well as Lisch nodules, which are small noncancerous (benign) bumps on the iris, the colored part of the eye. In some cases, tumors can develop along the optic pathway and affect vision. During puberty, noncancerous tumors called neurofibromas may develop on or under the skin or along the nerves. Bone deformities also may develop.

A child with complications involving the eye, nervous system, spine, or bones will be referred to a specialist for treatment. In cases where these neurofibromas are causing pain or infections, or growing into vital body organs, the growths can be removed through surgery.

Children with NF1 can also have a high prevalence of seizures, learning disabilities, attention deficit disorder (ADHD), autism, and speech problems. Therapy and specialists can help manage those symptoms.

Neurofibromatosis Type 2

Neurofibromatosis type 2 is less common, occurring in about 1 in 25,000 births. Young adults with NF2 are typically diagnosed when they develop tumors on the vestibular nerves (the nerves leading to the ear). In contrast, young kids with NF typically have retinal abnormalities and spinal tumors.

NF2 symptoms, which appear in the teen years or early 20s, can include hearing loss, ringing in the ears, and balance problems balance. Surgery and chemotherapy can help manage these problems.

Schwannomatosis

Schwannomatosis is an even rarer type of neurofibromatosis, in which people develop multiple non-cancerous tumors involving the nerves in many areas of the body, most often the arms or legs. But unlikeNF2, they don’t get vestibular nerve tumors.

In their mid-20s, people with this disorder may experience numbness, weakness, muscle atrophy, and severe pain in parts of their bodies. Treatments, such as pain medications and surgery, are available to manage these symptoms.

Tuberous Sclerosis

Tuberous sclerosis, or TS, causes non-cancerous growths called tubers  to form on organs, including the brain, eyes, kidneys, heart, lungs, bones, and skin. It occurs in about 1 in 6,000 births, and the child of a parent with TS has a 50% chance of having it.

TS is often first recognized when a child has seizures or shows developmental delays. The severity of TS symptoms varies greatly among kids, ranging from mild skin changes to learning disabilities, mental retardation, or kidney failure.

Treatment usually includes medication to control seizures, treatments to address skin problems, surgery to remove tumors, and management of high blood pressure caused by kidney disease.

Sturge-Weber Syndrome

Sturge-Weber syndrome is a rare condition caused by a spontaneous genetic mutation that affects the skin and brain. What causes the mutation is unknown. So far, no genetic factors have been found. It isn’t passed to children by parents who carry the disease. Because it frequently goes undiagnosed, it’s difficult to estimate how many people are affected.

Each case of Sturge-Weber is unique and symptoms vary widely. The most visible sign is a facial birthmark or “port-wine stain” at birth that usually covers at least one upper eyelid and the forehead.

Sturge-Weber syndrome can lead to neurological problems, including unusual blood vessel growths on the brain. These often cause seizures that begin before the first birthday and can worsen with age. A child also may experience seizures that affect the side of the body that’s opposite from the port-wine stain.

About half of patients also develop glaucoma (increased pressure inside the eye that impairs vision), typically in the eye that is affected by the port-wine stain. That eye also might be enlarged (a condition called buphthalmos). Some kids who have this condition also experience strokes.

Treatments, medications, and surgery can help a child cope with the health problems associated with the disease.

Children as young as 1 month old who have Sturge-Weber can undergo laser treatment to reduce or remove port-wine stains. Anticonvulsant medication may be used to control seizures, and surgery can control glaucoma and vision problems.

Ataxia Telangiectasia

Ataxia telangiectasia (A-T) is a gradually worsening disease involving many major body systems. It’s a recessive genetic disease, meaning that two healthy parents who carry the gene could have a child with A-T. Two parents who carry the mutated gene have a 1 in 4 chance of having a child affected by A-T.

A-T is usually noticed in the second year of life, as a child develops problems with balance and slurred speech caused by ataxia (lack of muscle control). The ataxia occurs because the cerebellum, the part of the brain that controls muscle movement, is degenerating. Eventually, lack of muscle control becomes severe enough for the child to require a wheelchair.

Another symptom of A-T is the appearance of tiny, red, spiderlike veins in the corners of the eyes or on the ears and cheeks when exposed to sunlight. These veins, known as telangiectasias, are harmless.

About 70% of children with A-T also have immune system problems that make them more susceptible to lung disease. These children often have chronic upper respiratory infections, lung infections, and pneumonia. They’re also very susceptible to developing certain cancers, such as leukemia and lymphoma.

Currently, there’s no cure for A-T and no way to stop its progression. But treatment can help kids manage symptoms. Physical therapy and occupational therapy may help maintain flexibility, and speech therapy can help address slurring and other speech problems. Special medications may be given to help enhance weakened immune systems.

Von Hippel-Lindau Disease

Von Hippel-Lindau disease (VHL) is a rare genetic disorder involving the abnormal growth of blood vessels, leading to tumors. It usually affects certain areas, such as the brain and other parts of the central nervous system, the retina in the back of the eye, the adrenal glands, the kidneys, or the pancreas. Although few people have this disease, the child of a parent who carries the gene that causes VHL has a 50% chance of having the disorder.

Blood vessels usually grow like branches on a tree, but in kids with VHL, they form small tumors called angiomas. Doctors carefully monitor angiomas because, depending on their location, they can cause other medical problems. For example, angiomas on the retina may lead to vision loss.

Symptoms usually appear when someone is between 10 and 30 years old. VHL is diagnosed through an MRI or CT scan, a physical examination, and blood tests.

Symptoms depend on the size and location of the angiomas, and can include headaches, balance problems, dizziness, weakness, vision problems, and high blood pressure. Fluid-filled cysts or tumors (cancerous or non-cancerous) may develop around the angiomas, worsening these symptoms. People with this disorder have a higher risk of developing cancer, especially kidney cancer.

VHL treatment depends on the size and location of the angiomas. The goal is to treat the tumors while they’re small and before they put pressure on any major organs. Surgery may be required to remove tumors before they create severe problems.

The outlook for VHL patients depends where the tumor is located and whether it’s causing a problem to the patient. Fortunately, early detection and treatment can improve treatment outcome.

Caring for Your Child

The illnesses associated with neurocutaneous syndromes can place enormous stress and emotional burdens on you and your child, and it’s easy to feel overwhelmed. Early intervention is important to help your child achieve the best quality of life possible.

It’s important that your child is cared for by a team of medical experts. Treatment should prevent or minimize complications and maximize a child’s strengths. Keep these tips in mind:

• Positive reinforcement can strengthen your child’s self-esteem and foster a sense of independence. Let your child find out what he or she is capable of, especially regarding daily living skills.
• Support groups can be help, so seek out local chapters that address your child’s particular illness. They provide a supportive social environment, and are a great way to share knowledge and resources.
• Psychotherapy or other supportive treatments can boost your child’s self-esteem and coping skills, so ask the treatment team for referrals. Therapy also can help other family members deal with the stress involved in caring for a child with a chronic illness or disability.
• Physical, occupational, or speech therapy can help your child improve some of the developmental delays caused by the specific illness.
• Check with your local hospital or university for seminars about neurocutaneous syndromes.

Many medical professionals might care for your child during diagnosis and treatment. These professionals can include a family practitioner, pediatrician, neurologist, neurosurgeon, orthopedic surgeon, oncologist, geneticist, and ophthalmologist. A genetic counselor also can provide information about genetic testing and the risk of passing the disease on to another child.

Remember that although each of these conditions is challenging, supportive therapies and treatments can help both you and your child.