Johanson-Blizzard syndrome is a rare disorder characterized by abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure.
Thanks April, I will look you up. I've scheduled an appointment with the GI Dr at SLC and will ask for a referral to a geneticist. I too want to know what the potential problems we may have in the future.
I am on the facebook JBS page. Send me a friend request. You can find me on the wall, my daughter is Cassidy, my name is April Flynn. Let me know if you can't find me. I would strongly urge you to find a geneticist in your area. Preferably one at a large university or teaching hospital. It took almost 5 years and more doctors than I can count to get a diagnosis. Now that we know what she has we know what the potential complications are and we can be proactive instead of just treating symptoms (which is what we were doing before). For example, the geneticist found the hemihypertrophy. That is a key finding because hemihypertrophy is often associated with particularly nasty tumors (Wilm's tumors). Cass was in the ER about a week ago and when the pediatrician heard hemihypertriophy, his first words were has she been checked for Wilm's tumors. So some of this might not seem important, but ultimately is. To give you a frame of reference, Cassidy's geneticist graduated in 1964, is a resident at Children's Hospital in Boston and on staff at Harvard. That is 46 years of practicing medicine. When I asked him point blank about the statistical occurrence he told me that Cassidy is only the second patient he has ever seen with JBS. Seeing the GI doctor is a good start, but a competent experienced genetics doctor will know what to look for and help you be an advocate for your daughter.
No, we have not seen a geneticist. Like I said, she is otherwise healthy. X-ray reports were not good. Missing lots of random teeth, but it kind of confirms the diagnosis for us. We will see her GI Dr in a couple of months. He maintains that we just treat her symptoms as they come up I posted a note on a JBS facebook page a few months back but never heard back. Thanks for sharing your story with me.
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