Will is born with ultra rare chromosome disorder:1p36 Deletion and1p36 Duplication

July 21, 2012

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.  

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