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TOPIC TITLE: very rare genetic disease...
Created On 8/30/06 10:31 PM
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simchatomid
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Posts: 1
Joined: Jan 2006

8/30/06 10:31 PM
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Has anyone ever heard of - or know of anyone who is a carrier of - Meckel Gruber Syndrome? It is an autosomal recessive genetic disorder (both parents must be carriers). We recently had a baby who died of this syndrome. Unfortunately there is not enough research to do interventions like IVF... but the baby can not live longer than a few days (...however they can likely survive a full term pregnancy). (We already went to a renown genetic doctor to find out the possibilities.)

Any help would be greatly appreciated.
 
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hb
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8/31/06 2:08 AM
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Sorry about your loss. Is it that they don't have the exact gene responsible for the disorder or not enough data? Is CVS an option? You might find it helpful to talk to Dr. Berish Rubin. He's a frum biologist that has cracked several genes already including Familial Dysautonomia, Nemaline Myopathy and more.
If you want his contact information, please feel free to PM me.
 
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ayiddishemommeh
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11/2/06 11:43 PM
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Hello to you, couple simcha tumid,
I recently found out more about theNATIONAL INSTITUTE OF HEALH. That is a gov't operated research centers w/ 'only'
absolutely fantastic doctors. They constantly run new reseach trials called 'clinical trial' where they might get you answers unknown yet. Although you might dislike being recruited in a research study, it could be helpful in some other ways. You can find contact addresses & numbers by searching the web (I tried it ). Hatsluche.
ayiddishemommeh


Edited: 11/2/06 at 11:44 PM by ayiddishemommeh
 
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bklynguest718
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11/28/07 3:24 PM
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I'm searching for somebody with this problem for a long time. I can't believe I found, meckel gruber is truly a rare disease. Simchatomid I realize you posted this a long time ago I hope you find this post and you get in touch with me. If anyone else knows of a way that I can get in touch with simchatomid please post a response. I have some information for him that might be of help to him.
 
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Admin
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Posts: 128
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11/28/07 3:30 PM
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Hi,

I sent an email to simchatomid to notify them about your response.

Admin
 
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bklynguest718
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11/28/07 6:29 PM
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Dear administrator
Thank you very much we appreciate it , we already got in touch with simchatomid!!
Thanks Again!!
 
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Genetic
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Posts: 1
Joined: Jul 2009

7/13/09 12:20 AM
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Hi,
I was searching for information on Mekel Gruber Syndrome, Admin: can you please contact simchatomid and bklynguest718 to contact me?

Thank you
 
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