Possible Downs Syndrome...negative Test??? Desperate!

[Cheyenne_08]

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????

[Lisa Kessler, MS, CGC]

It sounds like your son has a lot going on.  It may be possible that one genetic condition may account for the different features that you have described.  Searching for a diagnosis is difficult and if found, a diagnosis can help provide information about management, what to expect for the future, and implications for other family members, too.  

You may have already pursued this, but it is important for your son to also see a medical geneticist in addition to having genetic testing done.  A medical geneticist will often perform a detailed physical exam that can guide the genetics tests ordered.  You can find a medical geneticist through the American College of Medical Genetics website.  

Even after pursuing all of the recommended tests, there still may not be an answer right now, but genetics is a rapidly changing field, and you may want to follow-up with your medical geneticist on a yearly basis to stay updated.   Best wishes to you and your family.

[Cheyenne_08]

Forgot to add.....when I was pregnant, my quad scan came back EXTREMELY high! They said I had a 1:24 chance of spina bifida, however, at birth and during the ultrasounds before birth, no defect to the neural tube/spine was found.

[Cheyenne_08]

Also, 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!