The Only One
Will was born on June 29, 2003. He was born with an extra thumb on his right hand, several holes in his heart (ASD/VSD), some unusual marks near his eyebrows, and very thin ears. We were told that he must have a genetic condition.
Will has had many medical challenges, including two open heart surgeries and double hand surgery. In April of 2006 he was diagnosed with “”low functioning”" autism. He is non-verbal.
In 2008 we were asked to return to our genetics clinic for further testing. It was then we were told, Will had a deletion of chromosome 1p36.13 to 1p36.21 and a duplication of chromosome 1p36.21 to 1p36.31. His diagnosis is rare. Will seems to be the only one, as we have been told that no other person in the world is currently known to have this genetic condition.
Will Topp
Brookfield, WI
Editors Note: The Chromosome Disorder Outreach Organization (COD) is celebrating their 18th year in education, advocacy and support for those suffering from rare chromosome disorders. COD has a unique network of support, educational articles and information from around the world encouraging those feeling “alone” to visit their organization.
Hi There-
My son was born on March 30, 2012 and has a duplication on 1p36.12-.11. He has many complications including unilateral cleft lip and palate, low muscle tone, dev delays, kidney reflux, bilateral ureter duplication, kidney reflux, delayed myelination, asymmetrical brain growth, reflux, and feeding problems (gtube fed). We now have a small private Facebook group for parents of 1p36 dup kids so if you’re on facebook feel free to friend me and we can add you (Im under Jenny McCarthy Hopper). Or always feel free to email me at jennyhopper1@gmail.com.
Jenny
HI,
Our daughter who is 25 has 1p36 deletion as well as a duplication but they have not been able to identify what the duplication is except to say it is part of the number 1 chromosome.