Kaos.Theory avatar
Kaos.Theory
8
1 year ago

New here, has anyone else been diagnosed with 15q11.2 microdeletion?

Hey everyone, im brand new here..firstly i want to apologise if what ive written is confusing in anyway but this is basically all the information ive recieved..I was diagnosed with severe ADHD/ADD/ODD around the age of 8 i think. Recently my 2 of my 4 children were diagnosed with ADHD/ADD/ODD and after having genetic testing done it showed they also suffer from Burnside-Butler syndrome (15q11.2 microdeletion) and as it is a very rare hereditary genetic condition i was tested and at the age of 31 I've also just been diagnosed with Burnside-Butler Syndrome (AKA 15q11.2 microdeletion disorder) To add to a stressful situation im having difficulty finding any doctor or medical professional who knows anything regarding this genetic condition other than its name and its only just been medically recognised. I have no idea what the next step is or where to go for help and have become so overwhelmed I'm honestly at a loss 😖 if anyone has any suggestions, thoughts, ideas etc I'd be extremely grateful and appreciative thankyou! I've attached the my test diagnosis (the only thing I've been given regarding it)

New here, has anyone else been diagnosed with 15q11.2 microdeletion?
Kaos.Theory avatar
Kaos.Theory
1y

I've had to "google doctor"/internet research because I the diagnosis was never actually explained to me (I recieved this in the mail) but yes it has provided some clarity but has also raised more unanswered questions.. apparently 15q11.2 microdeletion has only been recognised in the medical community since 2019 and there has been minimal research and studies into it, and the full extent of impairments, affects, etc is still not known. I'm trying to understand the ways it affects me but I've basically spent the past 30years under the assumption that everything was normal so I'm finding difficulty in recognising them. Not having people to discuss things with probably hasn't helped either :/

adhdartist2023 avatar
adhdartist2023
1y

This is all I’ve found so far re BB in adults. I’ll shoot a note to my genius ND and see what she says. See my separate post for the screenshot.

ParabolicHeater avatar
ParabolicHeater
1y

Has this diagnosis give you any clarity?

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