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MrsBalletStar05
member
Haven't been here in awhile. Random post.
MrsBalletStar05
member
We took my son in for some blood work today. We talked to a geneticist and are getting him tested for Fragile X and then some other test (can't remember the name) that tests for chromosome abnormalities. He seemed somewhat doubtful about positive results, but, eh. I'm doubting his doubtfulness :-P
I gave up trying to get an appointment with a particular developmental pedi because the receptionist was so insistent and CONFUSED about our insurances. I'm on a waiting list for an appointment at another who gave me no hassle at all, but who knows when we'll get an appointment. I'm supposed to get a call just to make the appointment 3 months from my initial call :-P I know its common to have a long wait though.
It's frustrating and stressful, that's all. I cried all the way home from the appointment this morning, not out of sadness, just from being stressed and relieved that the appointment was over. My H is deployed and that doesn't help things. Days like this I just feel pathetic. I can't wait for him to be home so it's not just me dealing with this by myself anymore.
Adrian 7.6.07 - ADHD, Disruptive Behavior Disorder, Learning Disability-NOS
Cam 6.6.10 - Autism, Global Developmental Delay, Mixed Receptive/Expressive Communication Disorder
Cam 6.6.10 - Autism, Global Developmental Delay, Mixed Receptive/Expressive Communication Disorder
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Re: Haven't been here in awhile. Random post.
Im sorry you had a bad day. I've had a few of them myself lately. When will your husband be home?
I just wanted to let you know you aren't alone, you can always come here to vent. Even though I don't know any of these ladies, I always feel so much better when I come here to vent b/c I know they "get" it.
Big hugs to you.
As a fellow military spouse who H is deploying in the near future, I feel your pain. I also know well what it is like to just wish he could come home to help!
You've always got us to vent to no matter how big or small. I hope that you are able to have a better day today and that you are able to get an appointment sooner rather then later.
Hey there! I'm glad that you were able to get the blood work done! FWIW, all of the professionals (pediatric neurologist, etc) that saw G before his FXS diagnosis said that there was no way he was affected by fragile X. If you do get a diagnosis of FXS, you can go to a fragile X clinic. At that appointment our son was evaluated by PT, OT, SLP, neurology, developmental ped, geneticist, and a nurse coordinator. One stop shopping, so to speak. It was definitely helpful to see everyone in one place and they were all talking with one another too. Afterwards, they all met in the same room to discuss the best plan for G.
I'm not posting around here much at all, as I've been pretty overwhelmed with getting everything up and running after our diagnosis. Please feel free to message me!
Big hugs to you!
ETA: We also had a chromosomal array done at the same time as the FX DNA test. Is this what your guy is having as well?
I thought of you yesterday! The dr. said there wasn't enough history in our family....that basically I was too *smart* for my kid to have Fragile X. I thought, "Hmm, that lady on the bump comes across as pretty smart and her son has it!" And then I immediately went online and read a sentence that basically said that there CAN be no known family history or that it can not be seen in several, several generations before it pops up again, ect.
It must be the chromosomal array. I thought that sounded right to test for as well. If it's not Fragile X, maybe it is some other chromosome abnormality.
My husband thinks Angelman's Syndrome. I don't think that is what it is, but one of the typical characteristics is interesting to me - hypo-pigmentation - light features. My son has blonde hair and blue eyes and that might not seem strange - I do too, but my husband is very dark skinned and has black hair. Our son is so LIGHT compared to what you'd expect him to look like. Our other son is dark featured, and people would often ask me if they were both my kids :-P So that one thing makes me think, whatever it is, it's something he was born with. It's something that was handed down by us.
Hoping for answers anyway! I forgot to ask how long to expect to wait for any results, but I do know it's a long time.
Cam 6.6.10 - Autism, Global Developmental Delay, Mixed Receptive/Expressive Communication Disorder
He said WHAT?! Was that the geneticist? I'm truly appalled! Those in my family that are being tested or that have been tested are nurse practitioners, PhDs, business executives, etc. That 'too smart' comment has no merit and should never have been said. Regardless, you are 100% correct. It can take many generations for this mutation in the FMR1 gene to expand from greyzone to carrier (premutation) to full mutation. My son is the first in our family to be diagnosed with full mutation, although my cousin is currently having her son tested. He presents like a mildly affected male. My cousin's mother was tested and she is greyzone. This means that can have grandchildren with the full mutation and children with the premutation all while not showing any of the affects of carrying the mutation.
The FX DNA test takes 2-4 weeks to come back. Mine took 2 weeks. My son's and my aunt's took 3 weeks, and my cousin's took 10 days. The chromosomal array takes around 5 weeks, although my son's results came back in 3 weeks (as normal). It looks for large duplications, deletions, inversions, etc. Are they going to let you know if your son's FX results if they come back before the chromosomal array? If they tell you that your son's FX results are 'negative', press them for the repeat number. I've heard of a few people that have a son with a repeat number in the carrier region that present like full mutation males. Technically, those that aren't full mutation will be classified as having a negative FX test result. Does that make sense? I can expand on that for you, if needed.
Also, depending on your husbands genotype for those two characteristics, it IS possible for him to have a light skinned, blue-eyed son especially if you also have light skin and blue eyes. It's only a 25% chance, but it exists. My son is also fair with blond hair and blue eyes...like me. My husband has dark brown hair, brown eyes, and a medium to dark complexion.
ETA: I just sent you a private message.
Replied!
Like I said there, I didn't think he was correct but hadn't looked into any cases in a couple of months. He said if DS#2 had FXS, I wouldn't have been able to go to college like I did. Good to know I wasn't wrong about my thoughts on that!
Cam 6.6.10 - Autism, Global Developmental Delay, Mixed Receptive/Expressive Communication Disorder