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Spockles
member
F/U with Geneticist RE: abnormal labs
Spockles
member
We had DS's f/u this past week and she went over the abnormalities in DS's CGH testing with us. She didn't seem too terribly concerned about him having a duplication of Chromosome #12. She is, however, very concerned about his "abnormally large size." Apparently he is just too big for his age. She wanted us to have a PTEN lab tested and he also had a skeletal study done (x-rays of his whole body). She also discussed with us that she wanted him to have an MRI of his brain (which he will have to be sedated for) to make sure everything checks out in his head since he has a big head. He has always been tall and had a big head. His pediatrician always says he's proportional, but the Geneticist makes me feel like he's a freak of nature or something. :-(
Anyway, the doctor didn't like me questioning her why she wanted the MRI done and how he/we will benefit from it. She seemed a bit irritated with me about asking why and she made me feel dumb because I didn't know what the hell to ask about things.
Also, we got the results of his skeletal study and they were also abnormal. She said that his bones are aging faster than he is. Has anyone ever had experience with this? I kind of went into shock when she told me this and I couldn't think of what to ask regarding this. :-( She then emphasized again that we should definitely have the MRI of his brain done since the skeletal study came back abnormal.
My poor little guy. All of this makes me feel so bad for him.
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Re: F/U with Geneticist RE: abnormal labs
Ugh. Sorry she was rude and freaked you out.
As a parent, you had every right to understand the exact logic behind requiring a test that requires sedation, not to mention is expensive.
I have to remind myself every time that they are grasping at straws to find anything that will solve the mystery that is my child. If he did not have these other health issues without a clear reason, no-one would notice his large forehead and head circumference. It sounds like your LO is similar. Everyone in my family has a large head. Don't know if you have a German background, but that ethnicity is notorious for big heads.
I also do not think that geneticists take any coursework in empathy or tact. I am sure there are very kind, compassionate geneticists out there. Just have not run into one.
I think sometimes they forget that we don't understand everything they do and we have to have a FULL explanation before giving the OK to put out child through something like that.
My daughter has been through two MRIs and a spinal tap among many other tests so far and she is 10 1/2 months old so I understand your fear of these procedures, I was there a few months ago. She came through the anesthesia (Propofol) great and they were able to rule out some very serious conditions by doing those tests. I still get very frustrated when they seem to be guessing and are still continually running tests but we have learned that our best resource is our pediatrician so we now call him every time we see another specialist who suggests another test and he is always willing to spend HOURS with us explaining the pros and cons or each test...
What we're learning having a child with a rare chromosomal change is that most geneticists haven't heard of the microduplications or microdeletions so they'll tell you it doesn't mean anything. I did find some info on the 12th chromosome for you. I'm not sure if it means anything though since I'm not familiar enough with it.
https://www.rarechromo.org/forum/DisordersLeaflets.asp There's a support group on facebook called Mr. Sunny Day for kiddies with genetic changes that I belong to. The admins are friends. If you are interested let me know so I can let them look out for you
Chris had 2 MRI's so far on his brain. One was to check on his abnormal eye cup pallor and from there they discovered the delayed mylenation. The 2nd was to check on the delayed mylenation.