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Post by tienie on Aug 26, 2006 16:44:36 GMT -5
...and it's NOT Downs Syndrome! It's a microdeletion of chromosome 6.  I have an appt on Sept 6th to find out more...but they said bluntly there isn't much more because it's so rare and new. They coudln't see most microdeletions until they developed the microarray analysis method of karyotyping in 2003. So, I guess there'll be new dx's of this same thing popping up here and there. Anyway, at least I have an answer! |
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Post by Jessie on Aug 26, 2006 17:11:47 GMT -5
Thank God you finally have been given an answer! I'm very curious about this, but it sounds like there are probably not alot of answers yet!
Hope you stick around and keep us posted on how things are going!!
Jessie
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Post by ValerieC on Aug 26, 2006 18:28:44 GMT -5
I'm glad you stuck by your guns and found an answer. Like Jessie, I hope you stick around and let us know how things are going. It sounds like the 2 dx's have very similar characteristics if you thought she had some form of Ds. I'm sure you'll still find some kind of support from us.
valerie C
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Post by momofrussell on Aug 26, 2006 20:29:08 GMT -5
microdeletion? meaning a small piece missing?
I am glad you finally got some difinative answer!! I would also like to encourage you to stay with us... we could all learn from each other!!!! I'll be eager to learn more about your daughter's DX with you! Have you googled info yet?
Please keep us posted!!
A.
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Post by momofrussell on Aug 26, 2006 20:33:55 GMT -5
Ok... nevermind.. I was facinated and searched myself.. so yes.. a small piece is missing. Seems from what I found it appears only a couple chromosomal "microdeletions" actually have "names"... so.. maybe your daughter could be a part of some medical journal for yourselfs and others!  Hugs, a. |
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Post by Chester on Aug 26, 2006 20:43:27 GMT -5
FINALLY! Phew, that was a long time coming!
As you learn about it, please share with us!
Dawn
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Post by Many on Aug 26, 2006 20:58:52 GMT -5
I'm glad you finally have the diagnosis. Now, you can really try to find out about the missing chromosone 6. Please keep us updated.
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Post by TriciaF on Aug 27, 2006 0:18:50 GMT -5
Very interesting! I have a friend whose daughter has been tested at least 3 times for Ds because of similarities in her issues....but nothing. She has also been diagnosed autistic...but they know more is going on then that. She has had issued over the years with seizures, curved spine and had heart surgery after she was born. I am going to mention this post to her right away. Found these sites: www.chromodisorder.org/ghr.nlm.nih.gov/chromosome=6Wow...this just gets wilder and wilder...this site shows a link with ADHD... www.genecards.org/cgi-bin/listdiseasecards.pl?type=chrom&search=6 |
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Post by Emilysmom on Aug 27, 2006 6:42:15 GMT -5
As someone else said recently, it's like a missing piece of the puzzle is now found! I'm glad you have a diagnosis now. I sure wish more was known about this though!
I agree with everyone else..........stay with us!! I'm attached to little Meghan now!
Susan
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Post by tienie on Aug 27, 2006 10:02:00 GMT -5
Thanks so much for welcoming me here! It's not like there's a support group for this, so it's nice to know I can stay. I'd better change my siggy, though.
Everything I've read about Down Syndrome sound like Meghan, so there must be a lot of similarities. Who knows, maybe they'll end up lumping this in with Downs or even something else. Didn't Downs start out only Chromosome 21 and then they added 18?
Tricia - I've only read one other case of this online so far, and that boy also had a curved spine. Meghan doesn't, but it's interesting that your friend's daughter does. Maybe she needs to find a geneticist who can order the microarray analysis for her. The normal karyotype didn't show anything for us either.
Oh, and as far as a name for this...dh is calling her "5 1/2". Isn't he goofy?
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Post by updowns on Aug 27, 2006 18:56:28 GMT -5
Martienne, so glad you got a dx, kudos to you for sticking to your guns. I too would love if you would stick around as we've got kinda attached to Meghan now
Stella
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Post by tienie on Aug 28, 2006 8:25:52 GMT -5
I had to tell you all...I found a web site in the UK that is all about rare chromosomal disorders, so I downloaded the brochure about the one Meghan has. I'm telling you...you could change the heading to "Down Syndrome" and no one would know! It sounds just like it!! Even the physical descriptions sound the same...as well as the health problems, LD's...everything! WOW!
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Post by meghans_mom on Aug 28, 2006 8:36:11 GMT -5
Tienie - I'm so glad you finally have an answer -- as far as other chromosomal things go - there is a trisomy 16 (which I think only presents as mosaic type, as full tri-16 is fatal in utero) as well as trisomy 13...my friends daughter has partial trisomy 13, and it is very very rare as well...she used to hang out with us (not on this board, but at the other support group i attend)
I hope you'll stick around too! hugs, laurie
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Post by CC on Aug 28, 2006 21:14:23 GMT -5
I have never heard of "microdeletion of chromosome 6" Glad to hear you finally have a DX. I agree, hope you stick around cause actually DS or microdeletion of chromosome 6, your child has a disability just like all of ours here and even thou it may be a different disability I am sure many common factors that we all have to deal with at one time or another occur. When you find out more about this DX, I hope you will share with us, so we all can be educated on it. CC |
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Post by Deannalee on Sept 1, 2006 22:06:46 GMT -5
Wow!!!! It really has been a long time coming....but as someone else said....maybe they can give it her name!!! Please keep us posted.
Deanna
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I have an appt on Sept 6th to find out more...but they said bluntly there isn't much more because it's so rare and new. They coudln't see most microdeletions until they developed the microarray analysis method of karyotyping in 2003. So, I guess there'll be new dx's of this same thing popping up here and there.
&