Various sharp 1p36 Deletion Syndrome support group readers have pointed out a new paper published in February on the disorder. The paper was written by Agatino Battaglia, MD and Lisa Shaffer, PhD, FACMG. Dr. Battaglia is a new name to me. He's based in Italy. However, many of us 1p36 parents know and love Dr. Shaffer for her work on researching the syndrome. Their paper is available online at GeneTests.org. It gives a good summary of diagnosis, symptoms, treatments and so on. A lot of it isn't new, but the data is current and there were some new items that caught my attention. Skeletal abnormalities is a topic I hadn't really heard much about. The paper says a possible result of a 1p36 deletion is scoliosis, malformation of the ribs, or asymmetry of the legs in approximately 40% of the patients. Melanie and I will have to bring that up the next time we meet with Whitney's doctor.
Prevalence of 1p36 Deletion Syndrome in newborns is still measured to be between 1 in 5,000 and 1 in 10,000 with a two to one ratio of girls to boys with the disorder.
One thing that made me happy is the rate of detection using FISH testing and Array CGH testing is above 95%. That makes for better informed parents who can begin to care appropriately for their little ones affected by this deletion without the period of uncertainty that many in the past faced.
The paper is understandably heavy on medical terminology, but it's still worth the read. You can find it here.
Whitney's annual visit to see the geneticist is tomorrow morning, so I'll share how things went coming up. I think I'll also print a copy of this paper to take along for the doctor to have.
4 comments:
Hi Nate, Daniela here from Italy. Battaglia is a new name for me too. I made a research and I found out that he works in Pisa. I'll contact him. We are only three 1p36 families in Italy and we keep in touch each other, but if ratio is 1:5,000 - 1:10,000 I think we should be more. Your site is a very important information point, and I wish to thank you for your great job.
Hugs, Daniela
Hi Daniela,
When I saw that Dr. Battaglia was based in Italy, it made me think of you. It would sure be nice to have a knowledgeable doctor like him close by. Hopefully you'll get to meet him.
Say hello to your family for us!
Nate
Thanks for the link. I found it the other day and couldn't find it a second time to show Troy!
I agree with Daniela - our geneticist in AZ knows of only 2 or 3 1p36 families in the area so 1:5,000 seems so high to me! I guess time (and advances in technology/diagnosis) will tell!
Yes 1 in 5,000 does seem pretty high for how many cases we've met too. It makes me worried that many families with diagnosed cases are still out there coping alone and so many are probably still undiagnosed.
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