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 …
admin 
Kids and Diabetes: Wendy’s Story
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 …
Klinefelter Syndrome
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 …
Marfan Syndrome
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 …
Muscular Dystrophy
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 …
Neurocutaneous Syndromes
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 …
Neurofibromatosis
About Neurofibromatosis Neurofibromatosis (NF) is a neurocutaneous syndrome that can affect many parts of the body, including the brain, spinal cord, nerves, skin, and other body systems. NF can cause growth of non-cancerous (benign) tumors involving the nerves and brain. NF can range from mild to severe. Some children live …
Newborn Screening Tests
About Newborn Screening Newborn screening is the practice of testing every newborn for certain harmful or potentially fatal disorders that aren’t otherwise apparent at birth. With a simple blood test, doctors often can tell whether newborns have certain conditions that eventually could cause problems. Although these conditions are rare and …
Prenatal Genetic Counseling
If you and your partner are newly pregnant, you may be amazed at the number and variety of prenatal tests available to you. Blood tests, urine tests, monthly medical exams, screening tests, and family history tracking — each helps to assess the health of you and your baby, and to …
Tay-Sachs Disease
Healthy babies develop vision, movement, hearing, and other vital functions in part because enzymes clear out fatty protein and other unwanted material that can interfere with growth. But a baby with Tay-Sachs disease is born without one of those important enzymes, hexosaminidase A (HEXA). So, as those fatty proteins build …