Down Syndrome Community
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193609 tn?1292183893

Possible Downs, Negative Blood Test???? DESPERATE!

My son is 8 months old...he was born at 31 weeks gestation with the cord around his neck 6 times. He has been seen by many doctors and will begin being seen at the University of Michigan in April. Here is the problem: Ashtyn has an abnormal auditory response...you can yell, scream, bang things together and he pays NO attention, when 3 hours later you can do the same thing and he will look right at you. He has a large head, wide set eyes that are almond shaped and slant upward, a flat nose bridge, miss-shaped ears, and developmental delays. They first thought he had Cortical Visual Impairment because he always had his head turned to the right and was not tracking at almost 5 months old....so we went to a neurologist who told us that it was not his vision (he had started tracking), that it was his hearing. So, he scheduled an MRI, a BAER, genetic testing (chromosome tests, DNA mutation analysis), and every other blood test under the sun! Everything came back normal except his urine showed a substance that causes kidney stones in some people and  there was slight damage to the visual neglect area of the brain and it is NO WAY explains his hearing problems! The neurologist at that point told us that there is DEFINATLY something wrong here, but for some reason, none of the tests is telling us what it is. So, my question is, could this be downs syndrome??? He fits EVERY characterists, and from birth, many have said tha the looks like a downs baby! We have NO explaination for this....is it possible that it is mosiac trisomy 21? We are DESPERATE for answers because Ashtyn is behind in language and other areas. He is 8 months old and squals when he is mad and makes no attempt at one syllable words, he does not sit up, he has feeding problems and recently stopped taking solids completely. PLEASE help in any way! Does this sound like a genetic disorder or syndrome that we have failed to test for????
3 Responses
193609 tn?1292183893
Forgot to mention that he drools A LOT, always has his mouth open with his tongue pushed forward, and lately has began twisting his tongue inside his mouth!
167426 tn?1254089835
All your questions need to be answered by an expert in the genetics field.  I would just like to say a few things,  a premature birth, slows down developement,  the cord around the neck,  causes brain damage from lack of O2 to the brain.  In developement years he is closer to 5 months than 8,  I guess my best advice to you would be to allow him to develop in his own time, these things cannot be pushed to happen. A blood test can determine if he is a Downs. The disconnection in auditory signals can just be a misconnection in the brain.  If he were my child , now that you have run numerous tests, I would allow him to progress at his own speed. It takes several years for premies to catch up to what we like to call "normal;"  The brain damage, if that is what it is,  can and possibly will straighten out with time, brain tissue does not regenerate but it does seem to shift ability  to adapt. To me his non-ability to speak at 8 months is not a big thing,  Accept the fact that your son may have a few problems, but by loving him and treating him as you would any baby should go a long way in helping him grow to the best of his ability.  I know it hurts parents to find their child is not the "perfect" little individual  they wanted , but he has a heart and soul and can learn to love you  as much as any child does. Offer that love and it will be returned .   With our son, he is a Downs, we allowed him to be an individual, not forcing him to be more than he is,  it takes time and patience, but it works.  Good Luck  Marty
13167 tn?1327197724
Cheyenne,  I found this abstract that is kind of difficult to read,  and doesn't offer a lot of answers except to make it clear that there are disorders that appear to look like Down's,  but aren't.    There is a mention of at least one other syndrome,  that appears to look like Down's and in fact the children have the same symptoms,  as well as the appearance.

Also,  Angelman Syndrome is something to look into,  and I couldn't find a helpful link for you.  It seems the ones i found were impossibly difficult to navigate.  I used to know a child with Angelman's, and she sounds a lot like your son.

Best wishes in your quest.  I hope you find answers soon.


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