Looking for others affected by this disease. There is so litle information available.

My daughter is suspected of having this. Information is very hard to come by. Feel free to respond :)

My daughter is now 7, very healthy at this point. She was not keeping up with the growth scale at 2 and 3 years old, very greasy, smelly stools. I finally convinced our pediatrician that something was not right, she referred us to Pedi GI at St Louis Childrens. They put her on Creone, a digestive supplement and her growth improved. This summer at her 6 month check at SLC, there was a new Dr who determined that she may have JBS. I was stunned, to say the least. She has what we thought was a large "cow-lick" on her forehead, and they pointed out that her nose was "beak shaped". She has not lost any of her baby teeth yet, so today we are seeing an orthodontist to determine if she does have primary teeth. Initial x-rays show she is missing some, but not all. The Dr is trying to get her in a study, but states there is no genetic testing available in the US at this time. They don't seem very concerned, just tell me that we'll treat her symptoms as they appear. I'm very concerned about her pancreas, developing diabetes, etc. Sorry for the long post. Where are you located and do you have a Dr who specializes in JBS? I know there is no treatment, or cure for this but I just wish I could be a little more pro-active in her care.

My daughter, Cassidy, is now 5. SHe sees a plethora of doctors, most at the Children's Hospital in Boston. She was diagnosed with global delay and failure to thrive at about 10 months old. The diagnosis of JBS is a recent one. She has seen more doctors than I can count (literally) over the years. The only thing they could all agree on was that there was something wrong. The more I read about JBS the more I agree with the diagnosis. My daughter has the upswept hair in the front and many many many cowlicks all over her head (not so bad now that her hair is getting a bit longer). She has the nose shape that your describe. In addition to all this she also has hearing abnormalities, spinal defects, eye issues, so joint issues, hemihypertrophy (one side of her body is bigger than the other). There are no endocrine issues that we are away of at this point. But she has just recently started seeing the pedi GI in Boston as she is not toilet trained. This in not from lack of trying on our part. But every doctor has attributed this to either her spinal issues (lack of sensation) or just though because she was so delayed in everything else that this would be late too. Missing teeth is common in JBS. My daughter has all her front teeth, but we are unsure of the back ones as she is still to small to do bitewings or a panaoramic exray. I have found there are many little quirks to JBS, as I said to the doctor, I would never go to the doctor and say "my daughter has too many cowlicks and a munchkin voice" but both are significant to JBS. I have found a hand full of JBS people on facebook. One parent was kind enough to send me hard copies of every article she has collected in the last 25 years. I would be happy to share what I know.

And FYI, they do know what gene is responsible for JBS, but as of right now, there is no clinical test for diagnosis available. Has your daughter seen a geneticist?

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.

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.

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.