I typed in 22q11.2 into google and it came up with DiGeorge syndrome. I've seen someone on here asking about that specific syndrome but so far nothing else. DiGeorge is caused by a deletion on 22q11.2, perhaps they are similar?
hi,i have searched so many avenues,and googled also,DiGeorge is not the same,but thankyou so much for trying.they are similar.but not the same.goldberg and sphrintzen not to be confused with shprintzen and goldberg.. i will keep searching thanks again
Sorry, perhaps you could try to get into contact with geneticists or neurologist from other countries or certain centers that focus on similar diseases/mutations. Sometimes a genetic mutation is so incredibly rare only a few people have it in the entire world and they just don't know where to start.
hi,i have done everything you said,my daughter is 1 of 15 in the world,its so hard to swallow,but its true,its been 18 yrs,goldberg and shprintzen,no one knows coz its so rare....i will always keep searchin tho,thankyou for you time
hi ducky,just reading bk over posts and see your advice of apologising and saying i could perhaps get in touch with geneticists,neurologists,blah blah blah....from all countries and all mutations and incredibly rare sites alike....with all due respect...i have! ..met them all! ..for years..i have searched.i could.name them i have not only been in touch with them,i have met them..and the families.....i am genuinely on here searching my arse off for answers hoping one day i will get them...
I live in the US and my child was just recently diagnosed with this syndrome. We have been unable to connect with other families. for information and support. If anyone is interested in our story, please post. Thank you, Judy
Copyright 1994-2017MedHelp International.All rights reserved. MedHelp is a division of Aptus Health.
The Content on this Site is presented in a summary fashion, and is intended to be used for educational and entertainment purposes only. It is not intended to be and should not be interpreted as medical advice or a diagnosis of any health or fitness problem, condition or disease; or a recommendation for a specific test, doctor, care provider, procedure, treatment plan, product, or course of action. Med Help International, Inc. is not a medical or healthcare provider and your use of this Site does not create a doctor / patient relationship. We disclaim all responsibility for the professional qualifications and licensing of, and services provided by, any physician or other health providers posting on or otherwise referred to on this Site and/or any Third Party Site. Never disregard the medical advice of your physician or health professional, or delay in seeking such advice, because of something you read on this Site. We offer this Site AS IS and without any warranties. By using this Site you agree to the following Terms and Conditions. If you think you may have a medical emergency, call your physician or 911 immediately.