My 2 year daughter is severely developmentally delayed. We got the results of the MRI.?
The Dr gave me the full report but said it doesn’t explain the medical reason for her symptoms- hyponotia dev delayed globally- pectus excavatuum- feeding and swalloing issues drools all the time non verbal and presents as a child with cp and autism.
Small confluent areas of increased T2 and FLAIR signal abnormality within pertrigonal parietal white matter as well as mild cerebral volume loss. Can anyone possibly explain this to me ?
Thank you to all who have responded so far. We did have bloodwork taken in jan 2010 and still awaiting the results. They are apparently only testing that for rett angelman. We have been to a paed dr and he said she does not have autism but still displays many symptoms. My biggest issue right now is being undiagnosed. I am in Southerm Ontario. I do have a therapy team and medical team. We have more appointments in dec and jan coming up to go over her progress and do another checklist of behaviours.
With what you’ve defined, have they done any genetic testing, I’d visit a genetic counselor if only to rule out conditions like Rett Syndrome, Fragile X Syndrome or Angelman Syndrome.
The right diagnosis is so very important to model treatments, therapies and known medical problems that could affect your child’s health and/or other members of your family.
Rett and Angelman Syndromes could be identified I believe by a chromosome or microarray analysis, Fragile X needs to be tested through a FMR1 DNA test (important that the run the correct test, this test is 99% accurate.) A genetic counselor with be more up-to-date on how to test for these conditions, better than many dev. Peds or neurologists who still try to use a chromosome analysis for fragile X, when the gene was discovered in 1991, and the DNA test was created shortly there after.
Big Hug, if you have any support groups in your area,, local or cyber you might find them helpful, I allow e-mail through yahoo and if you’d like me to try to help you find one just send me an e-mail, let me know where you are located.
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