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.  

7 thoughts on “Will is born with ultra rare chromosome disorder:1p36 Deletion and1p36 Duplication”

  1. Robyn Hawke says:

    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.

  2. Jenny Hopper says:

    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

  3. Shannon says:

    Hello! I just stumbled on your post… I don’t know if you’ll ever see this, but we live in Waukesha. My daughter is 13 and she has 1p36 Deletion Syndrome as well. Just thought I’d reach out since we’re so close!

  4. rose says:

    HI, just stumbled on your while goggling….. our daughter has 1p36.31 deletion along with 7p22.3 X 3 ( tandem duplication)

  5. Jeniffer Simonich says:

    Hi,
    My son Jacob is 18 and has both a terminal deletion of 1p36.33 and a 2.6 Mb duplication of 1p36.33-p36.32. To this day i have not been able to find any other kid with the same syndrome. We belong to the 1p36 deletion on FB, but he really doesnt have much in common with those kids. He is VERY high functioning, attends regular HS. He has problems with math, social skills, hypotonia, cleft subcutaneous pallet, and explosive outburst when he is over stimulated. He has been diagnosed with OCD, Anxiety and over focused ADD. His biggest challenges thus far in school seem to be, being able to fit in, making friends, math, and recently having a really hard time with learning how to drive.

    I am trying to do research to find other kids like him to compare notes and to be able to help him the best we can.

  6. Nuncia says:

    Hi all we are from South Africa Cape Town our daughter is 14 months old. She is diagnosed with 1p36.33 duplication please if there is anybody that can help with information contact me via email.
    nunciabotes01@gmail.com

  7. Esther A Pela says:

    Hi my daughter just turned 8 and was diagnosed with 1p36 deletion syndrome I live in New Jersey and yet to find another family in the area can we connect Could use some help with resource group

Comments are closed.

X