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Clue to a Serious Genetic Disorder (HHT) in Your Family?
by Sara Palmer
Does your child get nosebleeds “out of nowhere?” Does blowing his nose or bumping it on a toy cause bleeding? That’s what happened to me, nearly every day since I was three-years-old, and my parents were worried. My pediatricians saw this as a nuisance, and said I would “grow out of it”—but I never did! It wasn’t until I’d suffered from years of anemia and extreme fatigue, that I was diagnosed with a potentially serious disease: HHT (Hereditary Hemorrhagic Telangiectasia). By that time, I had two children of my own—and one of them started getting frequent nosebleeds when he was about four-years-old.
HHT is an inherited disorder causing abnormal connections between blood vessels, which can cause bleeding and other serious problems. HHT can affect the nose, lungs, brain, GI tract, liver, spine and skin. A parent with HHT has a 50% chance of passing it to each of his or her children, but it is hard to diagnose because members of the same family can have very different symptoms. In some people, HHT causes disability or death-from strokes, bleeding in the brain, brain abscesses, severe anemia or heart failure. But nosebleeds, often beginning in childhood, affect about 95% of people with HHT. A bloody nose may be the first clue that your child has HHT, and that he (and other family members) may be at risk for more serious health problems.
Family history is the key for diagnosing HHT. If your child has frequent nosebleeds and you (or your spouse) alsohave a history of nosebleeds, you have reason to be somewhat suspicious of HHT. If your family has a history of sudden deaths, unexplained strokes or brain abscesses, severe anemia, and/or nosebleeds in multiple relatives—then a diagnosis of HHT should certainly be considered. But don’t panic! The good news is: the disability and death associated with HHT can be prevented—if it is diagnosed and properly treated.
What Should You Do?
1. Contact the HHT Foundation International at 1-800-448-6938 or www.hht.org (located in Monkton, MD) for more information and fact sheets about HHT.
2. Visit an HHT Center of Excellence for accurate diagnosis. If your child has HHT, other family members need screening, too. Genetic counseling and a genetic test are available. The Johns Hopkins Hospital HHT Center of Excellence in Baltimore can be reached at 410-550-LUNG (5864).
3. Tell your child’s pediatrician and your own doctor about HHT. Bring your doctors an HHT fact sheet and ask him or her to communicate with the HHT Center about your care.
4. The HHT Foundation’s Maryland/DC/Delaware Regional Networking Alliance is a local resource for support, education and advocacy. The coordinators are Sara Palmer (email: spalmer@jhmi.edu) and Cindy Weyant (email: cweyant@comcast.net). Contact them for more information on HHT and how you can get help or get involved.
