Discussions By Condition: I cannot get a diagnosis.

3yr old son with speech delay/chromosome

Posted In: I cannot get a diagnosis. 2 Replies
  • Posted By: JamieV
  • March 30, 2010
  • 06:36 PM

Our son turned 3 in jan. and is just now trying to say some words. He never really babbled when he was younger. We have had his hearing tested twice, he saw an E.N.T and was ok. Pediatric Neurologist said he needed to see a neuro developementa dr so he saw them in decemeber and had a brain mri in jan which was ok. Recently has had chromosome testing which showed that all his chromosomes are there but at chromosome 7 he has "double" of something which they told us they are unsure why or if it is related and that we may never know because there are no other cases out there like this which I find hard to believe and just would like to know wether it is something to worry about or not? My husband and I just had our blood drawn today to be tested which will take 2-3 wks to get the results. We also have a 5 yr old son who is fine and our 10 month old seems to be developing fine. If someone could help me out we would so greatful!!


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  • My son just turned 5 and is completely non-verbal. He also has a double "Y" on one of his Chromosomes. He was diagnosed with Neurofibromatosis type 1 a couple of years ago. His geneticist seems to think that his nf1 has nothing to do with his inability to talk however. He has been tested for more genetic and chromosomes defects/syndromes/diseases than I can remember or count. If your son has cafe au lait spots (more than 5) have him tested for NF. Sorry I can't be more help but I am still looking as well.
    Anonymous 42789 Replies Flag this Response
  • my son turns 4 this year and has really delayed speech he can say 3 words clearly and the rest is babble, he never babbled as a baby. i have seen doctors and im still waiting on answers, ive looked up on the internet and disbracser has come to mine but cant be tested for that till 5. he also has limited concertration and is very clumbsy with no awareness of space round him. if any one can help with ideas of what could be holding him back im open to opitions.dona
    Anonymous 42789 Replies
    • February 25, 2011
    • 10:48 PM
    • 0
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