The day after my son Aiden was born, the doctors noticed that his features were different from what they considered “normal”.  As a new mom this frightened me,  as I did not know or understand what was happening with my brand new baby. A geneticist was quickly involved with his care, as they were considering diagnosing him with Down syndrome.

Approximately 6 weeks after his birth, we received Aiden’s genetic results and were told our son had a rare chromosome disorder called 2q37 deletion and duplication syndrome.  The geneticist gave us some very vague information about 2q37 and left us searching for answers.

My husband, who is in the US Air Force,  Aiden (about 7 months old at this point) and I were moving to England on a new assignment, when I noticed he was delayed more than the other children of his age. I took it upon myself to get him involved in therapy and see a developmental pediatrician. The pediatrician took the time to research (as much as he could) Aiden’s rare disorder and offered a bit more information about what his symptoms may entail and also ruled out some possible health concerns.

I don’t know what the future will bring for Aiden. He has a pretty moderate case of scoliosis from the disorder and we have already been told he will need surgery at about age 10. I have been searching for answers and looking for a group or some way to raise awareness for rare diseases or genetic disorders for a long time,  as I feel these diseases are not given the attention they deserve.

Stacy Brocious
APO / AE

 Editor’s Note:

We found a few of sites that may be of some help to our 2q37 Deletion Syndrome families.  One in particular is a link to a support group in the United Kingdom.

Unique – A support group based in the UK.

NIH.Gov – According to the NIH, “2q37 deletion syndrome appears to be a rare condition, although its exact prevalence is unknown. Approximately 100 cases have been reported worldwide.”

 

 

8 thoughts on “2q37 Deletion Syndrome: Searching for Answers”

  1. I have started a blog because I too have a daughter diagnosed with this syndrome. I want to bring awareness and find more people that suffer from this deletion. Do you have Facebook?

    https://2q37-deletion-syndrome.blogspot.com/2012/07/so-i-have-decided-to-do-blog-on-taylors.html?spref=fb

    Jenna

  2. Thank you for sharing this valuable information Denise!

    – The Global Genes Team

  3. David Gunderson says:

    Our son Jace was born in 2002, but not diagnosed until 2011. Happy to connect with all.

  4. Both of my children 7&3 have this genetic disorder. It was found that I’m the one who passed it to them. I felt horrible. But both my children underwent therapy and is doing great! I would like to connect with other families experiencing this.

  5. MH says:

    Hi Chasadi and David
    Just wondering if Ithere is way we can get in contact?

  6. Vonn says:

    Hi all, I’m new to the world of 2q37 as my 2 year old son has only just been diagnosed. Wondering if there are any groups in Australia. I can be contacted on Facebook. Vonn Maree Sawford.

  7. Lisa Hynes says:

    Hi everyone my daughter (14) was just diagnosed so I am in the very early stages of trying to find a genetics specialist. We are in NJ, if anyone has recommendations I’m all ears. Thanks . Lisa

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