Monday, February 4, 2013

Genetic Counselor and Geneticist/Neurologist

Nolan and I finally got to meet with the Geneticist/Neurologist. Let me preface this with all that I say here is paraphrased from what I can remember. First a genetic counselor came in and talked with us for a long time and answered my questions. She started by explaining where his partial or micro deletion is and what info is stored on that chromosome. She also had an article that was published last year of a 12 year old boy with the same deletion. I haven't read the article yet but we discussed the similarities and differences between the Nolan and the boy. It turns out that the boy has problems with the left side, specifically the left leg, which is Nolan's problem leg too. The boy has autism, Nolan does not, but the boys father was odd too. Apparently a lot of cases of autism are due to deletion on this chromosome, but their chromosome usually has more information deleted than Nolan's.
My main questions where regarding his heart, eyes, and urethra. And the answer was when problems arise with those areas then we will address them. These are all areas that seem to have serious issues in people with deletions on 16p13.3 .
It was suggested that he get the genetic testing again because the lab that did his tested has not been accurate in the past. Since this is a $6000 test we will wait until we meet our deductible and revisit if we want to do this again. If he does have the micro deletion then they would want to test one of his parents, because this is usually hereditary. At this point there is no follow up because we aren't even sure that he has it now.


  1. Seriously?! If they are doubting the testing, THEY should cover a retest! You already paid the $$. On one hand, I'd be pissed, but on the other hand, it's Good News, after worrying for so long about what will strike, it's quite nice to find that he's OK. Ugh.

  2. That's got to be frustrating to not really know...


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