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Old 16-04-16, 09:45 AM   #1
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Default 15q11.2 deletion anyone?

i know this is a very long shot as it is such a rare condition and sorry to put it on here but all the other groups we have found seem to be all mums and was hoping for a bit of male support,

my daughter this week has been diagnosed with the rare chromosome disorder of 15q11.2 deletion? any one else have this? turns out that it is me that has passed it on to her although have never been diagnosed with it up until now looking back i can see some of the symptoms in myself as a child and even now.

i will be very surprised if anyone on here has come across this but heres hoping.
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Old 16-04-16, 11:39 AM   #2
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Can't say I've ever heard of it before and hopefully the symptoms are the milder of the possiblities. Seems to affect people individually so two people could have it but suffer totally different symptoms. I did a quick google and for the benefit of others who have no idea what it is the quick synopsis I found is as follows......

15q11.2 microdeletion refers to a chromosome abnormality in which a tiny piece of genetic material on the long arm of chromosome 15 (at a location designated q11.2) is missing (deleted). The features of people with a 15q11.2 microdeletion vary widely.[1] The most common features include developmental, motor, and language delays; behavior and emotional problems; attention deficit disorders; and autism spectrum disorder. Other features may include birth defects and seizures.[2] However, some people have no apparent physical, learning, or behavior problems.[1] A 15q11.2 microdeletion may occur randomly for the first time in an affected person, or it may be inherited from a parent. Treatment depends on the signs and symptoms in each person.
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Old 16-04-16, 12:19 PM   #3
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Many thanks for taking the time to read my post and then look it up. We to had never heard of it although it is quite a new thing due to the the test being fairly new.

It does effect her a lot less than it does other people thank fully but she still present us with challenging days.

As I was unaware that I had it and only found out due to my daughters problems I'm sure there are a lot more people out there with it that don't show many if any symptoms.

Just have the battle with the school now to get her extra help.
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Old 16-04-16, 09:50 PM   #4
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Best wishes to you and your daughter, Can't say I've had anything quite as upsetting though my second daughter was born with a mild cleft pallet. Her upper lip and gun hadn't formed correctly and both were basically in two parts. A surgery at a few months old with a second when she was around 6 years old corrected the defect with very little physical scarring. The surgeon who carried out the work was excellent at his job.

Hope you don't get too much grief dealing with the school and local authorities. They can tend to be as obstructive as they can get away with as the extra assistance she may need will cost them. I have a colleague who has had to fight to get what his ADHD daughter requires and is entitled to.
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Old 24-04-16, 02:30 AM   #5
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I pray things go well.
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