My 10 mth old was diagnosed with 22q11 deletion a month or so ago. Last week, i found out that she actually has 22q11.2 distal deletion. Apparently she is 1 of only 15 recorded cases in the world so information is hard to come by and the little i have is not in any language i can understand (very medical).
I was wondering if anyone has heard of this and can give me any info or direct me to a useful site.
Thanks. x
I have never heard of the distal deletion. Our son just has 22q11.2 deletion. I will see if I can find anything that is easier to understand. Good luck with everything!
Okay... I really couldn't find a whole lot either. From what I did find, I understood that it is a totally separate deletion. It occurs below where the 22q11.2 deletion occurs (that is the "distal") part. It also said that this area in our DNA is highly susceptible to error as it forms and that becuase of that, 90-95% of the deletions in this area are spontaneous, not passed down from parents. It did say that some characteristics are shared with 22q11.2, but that because it is not the same deletion, it may have it's own characteristics. From what I could gather, it is a relatively new discovery and that is why you are having such a hard time finding anything.
The only suggestions I have are to meet directly with a geneticist, preferably one who has worked with one of the other 15 cases of this deletion (can we say expensive?) or see if you geneticist can get in touch with them and discuss before meeting with you and to see if you can find a medical library in a children's or university hospital that may have an attendent there who could help you. There is going to be VERY little on the internet because this is SO rare. I think you are going to have to go direct to the source and meet with an actual geneticist. Also, you and your darling little daughter are, unfortunately, going to be paving the way for those who come after you. You are in uncharted territory here!
Good luck with everything. Please, please, come here to vent, ask advice, etc. We are all just doing our best to get through the day with our kiddos! And even though your daughter may be going through some slightly different things, we all understand what it is like to have a child with special needs! Hang in there.
Thank-you so much for taking the time to look and reply to me.
I have met with a geneticist who again said he didn't know alot but he asked my permission for Ilana to participate in his study, along with another case in the UK and another 2 here in Aus but they don't have a deletion, there's is duplicate (i think). So of course i didn't hesitate to say yes - anything to help Ilana and others!
Ilana's Paed could make much out of the info the genetiist gave me either apart from mentioning that the behavoural problems don't seem as bad - although i don't see how they can come to that conclusion considering the minimal amount of cases they have to compare to!.
My psych is trying to do some research on medical sites that the public can't access so he may come up with something (doubt it tho!)
Thanks again, i will let u know if/when i get some more info.
Emma x
Good luck. Your daughter is a cutie. why dose she have an "NG" Tube? Brenda
Did they find her deletion with a FISH or a CHG micro array? I'm just curious because my youngest has had lots of issues, including feeding issues (less common with 22q11.2) and they did a FISH just to be sure he didn't have 22q like our oldest son. He didn't. Now, however, considering Ilana's feeding issues and how she is similar yet different from 22q kids, I am curious about my youngest son. They did do an MRI that showed he had diminished white matter in his brain and his Neuro feels this would explain most of his issues. I just want to be sure we aren't missing anything. And since we have met our max out-of-pocket on our insurance and everything is paid at 100% right now, I would get the CHG micro array done just to be sure my youngest doesn't have the distal deletion.
Hi I am also searching for info on 22q11.2 distal deletion. My youngest daughter Mia has been diagnosed with this when she was 15mths, she is now 2&1/2 years old. It really freaked us out to hear that it was so rare and thought she was only 1 of 6 but it seems there are more children out there with this deletion. It would be great to be in contact with you and discuss how little Ilana is going.
I started a Yahoo support group for those of us with family members affect by a 22q11.2 distal deletion. There are very few of us (6 in the original study but several more have been diagnosed since). If you would like to join please email/message me or reply to this post. I will send you an invitation though Yahoo. The group is private, so anything you share can only be viewed by members.
Hi My son has just been diagnosed with this distal deletion and I was looking for more information about it - can you help or please refer to me to someone who can provide me with more information?
Hi,
I tried to join the group but I am still waiting for an invitation. My name is Anita and Nolen is my 15 year old son. I also have a 17 year old daughter named Brittany who is an A student and totally the opposite of Nolen in every way. They fight like cats and dogs. I am so happy to have found you! I knew soon after his birth that their was something different about Nolen due to his a-symmetric face and flat skull in the back. He also has a pre auricular remnant or skin tag on the side of his face...part of his ear I am told. As an infant even though he had no problems with his pallet he had feeding problems and was a failure to thrive baby and always small for his age having many bone age tests done. Because of the swelling on the side of his face by the age of 3 months he had an MRI because they thought he had an angioma. Not sure how to spell that. At 3 years of age he had an arterial angiogram due to a loud noise from his heart or neck. They never did find anything. He has had two sets of tubes in his ears and had his tongue clipped and adenoids removed. He's been through it all. He was admited into special ed pre school and I have been fighting for him at school from 2nd grade on to get him help with developmental delays, learning problems, speech, heat intolerance, and the list goes on for ever. He has had an IEP under OHI with a clinical diagnoses of Prader Willi "like" syndrome since the 1st grade because that seemed to most describe his multiple symptoms. Just say IEP meeting and I have a panic attack! He has been genetically tested for Prader Willie 3 times, Goldenhar Syndrome, Fragile X, and a few I can't remember. All came back normal. Shortly after being diagnosed with Aspergers Syndrome just about 4 months ago a genetic test was ordered for autism, Something they were doing research on. Well that's how we found out he had 22q11.2 distel deletion syndrome. Nolen is a very moody kid and can be very challenging but he also has the best sense of humor (as long as the humor is not about him) and loving personality. I love him just the way he is.
Anita...Nolen's mom:)
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 Hello from Phoenix Arizona:)Jul 29th, 2011 at 12:35pm   |
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Hello from Phoenix Arizona:) Jul 29th, 2011 at 12:35pm |
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