does your child have genetic disorder?

Sandra - posted on 04/26/2012 ( 5 moms have responded )

18

0

3

My grandson is almost 6 and has a very rare chromosome disorder. He has 11q14.1-11q14.3 deletion. Does anyone have a child with a similar deletion syndrome as this? Need your help Please.

MOST HELPFUL POSTS

App+7mnejhu - posted on 04/28/2012

30

0

4

My daughter doesn't have that deletion (she has 4q21.1.21) but I wanted to let you know about rareshare.org they have tons have the rare disorders/deletions/etc. hope that can help you find some answers

5 Comments

View replies by

Danessa - posted on 10/23/2013

4

0

0

Im sorry to hear the difficulties that all of you guys are having. I taking from your update patience is key... It kind of makes me sad but I'm trying to prepare myself for my son Gregory potential future. I have met other families with similar deletions through rarechromo.org (unique) and a Facebook pg dedicated to 11 chromosome disorder. If you don't know about them already check it out. There is a conference in June in San Diego that we will be attending.

Stay blessed

Sandra - posted on 10/23/2013

2

0

0

I am the grandmother who started this post. So here is an update. My grandson is global developmental delayed, non-verbal autism, apraxia of speech, sensory processing disorder. He is in the Second grade for special needs. He rides the school bus and he loves it. He does not sleep well at all...he is on several meds to help with this. He is short for his age...hasn't grown much in 2 years. He barely eats...and he has been in out, pt, speech, nutrition, you name it...for his entire life. Has allergy to wheat and dairy. He gets admitted once a year for any dental work...praying this continues to be enough. He constantly wants the TV changed. He will throw things at the TV...and to date, has destroyed one. We now have protective screens on all our TV's. He sees a pediatric psychiatrist for almost all his meds...and he is on clonidine, tenex, risperdal, CoQ10, Iron, Multivitamin, and now Periactin to help with his appetite. We are trying to avoid a belly tube. So far, it's working. That is the latest. He does try to say a few words. His speech is pretty garbled, therefore the apraxia diagnosis. He does say Momma, Dada, bye bye, PaPaw, tries to say Grandma, puppies. He uses the pecs system at home and at school and is doing very well with it. He has an IPad, but has not figured out how to use it properly, but the school is going to continue to work with him on the IPad. He gets bored easily, is very attached to his mommy...and he does not do well with a change in routine. This winter will be rough because we live in a cold climate and he does not like to play outside in the cold. So there it is....for now. I just keep praying things will continue to improve. And he IS NOT potty trained. He is constantly constipated due to his meds, I think; therefore he gets Miralax every single day. We don't think he realizes or feels uncomfortable in a wet or dirty pull up. We are going to keep trying though. This part is really hard...we need him to "get it". So we will keep trying, with the help of his teachers and aides at his school.

Danessa - posted on 10/23/2013

4

0

0

Hello my son has dup 11q13.3q141 and del 11q14.2q22.3. How is your grandson doing? My son is 13 months and is globally delayed. He still is having issues sitting doesn't crawl walk etc, eating solids, and has reflux. But he is a happy little baby and very loving!

Iridescent - posted on 05/10/2012

4,519

272

1080

My daughter has a deletion of 1p13-11 (missing almost the entire NOTCH2 gene). She doesn't have the physical defects that go along with it, but does have another liver disorder that was unexpected and they can't find the gene for it. During the testing process, we found out I have mosaicism, and also that we have a defect on the mitochondrial DNA - MELAS (A3243G), and my son has A1464G which is disease causing as well. This may have caused my daughter's liver defect and would explain why so many other body systems of hers are affected.

Join Circle of Moms

Sign up for Circle of Moms and be a part of this community! Membership is just one click away.

Join Circle of Moms