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.
APO / AE
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.”