frankies diagnosis

Some people get freaked out when you compare a person to a monkey. Doesn't bother me. We share about 95% of the same genes.
 
yep, his line goes all the way across. my daughter has 1 hand that has a crease, but he has 2..which almost makes me wonder if its more common? i dont know..but it is interesting, given his other stuff.
 
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yep thats simian/palmar crease one of biggest indication toward to genetic condition, cupped ears, extra skin on eyelid, high palate to name some of features
 
That's interesting. If it's x-linked males will typically have a more severe phenotype.
 
On the other hand, if it was fragile X wouldn't it have been picked up already? B/c I thought fragile X was one of the rare but at least SEEN ones. I do second Skullchick's suggestion to have a complete karyotype done. I do have quite a bit of experiance with rarer chromosome disorders, and the thing is.......you saying that he's really unusual but yet not stereotypical rare chromosome disorder (meaning profound or severely handicapped with a lot of other issues) is reminding me of myself. I have a chromosome disorder (deletion of the 18th chromosome) I wasn't told I had it until I was 16 b/c I didn't fit the stereotype . heck the closest I have to mental retardation is a math related learning disablity. The docs in BOSTON were all " oh no, she doesn't have this or that."
Oh, and from what you've told us about the doc classfiing him as Kanner....I think a lot of docs see odd nereological manifesations, and automaticly classfy it as autism, since that's the only thing they really know about.
 
i am horrible at math myself! i cant comprehend it, no matter how hard i try.
 
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SkullChick said:
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yep thats simian/palmar crease one of biggest indication toward to genetic condition, cupped ears, extra skin on eyelid, high palate to name some of features
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he has the high palate too..his eyes to me look different, but probably because they cross alot.
 
If it is Fragile X, your daughter can have it too, but less severely, because she has two X chromosomes.

And autism is very common in Fragile X.
 
Bottesini said:
If it is Fragile X, your daughter can have it too, but less severely, because she has two X chromosomes.

And autism is very common in Fragile X.
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If I'm not mistaken, not all who have Fragile X have autism though.
 
frankiesmom said:
and that is why i am not completely on board with the autism part of her diagnosis..this boy loves people..LOVES people. and he will make eye contact.
if she didnt have a huge shelf of autism books for sale, i might be a tiny bit more able to believe that she didnt jump straight to autism but who can say?
i am going to ask the genetic dr to test for fragile x syndrome because that fits him way more than anything else..i was looking at pictures of babies with it and the symptoms and it fits him so perfectly, except for a couple of things. he has the large forehead and protruding ears, the low muscle tone and flat feet, the hearing loss, and the simian creases on both hands, along with the mental retardation..i could be dead wrong but everything i have read about it fits him so perfectly, and it seems fairly common. well, its a fairly common cause of the delays/hearing loss together, at any rate. i just read another article that also mentioned that having a heart murmur is one of the characteristics too..obviously, this alone wouldnt be a symptom but what i am getting at is that this really seems to fit him very well.

:hmm:
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You should stick with your intuition ,no one know your child better than you! I am rooting for Frankie and hope you'll find the right doctor soon. I think my daughter had friend that a little girl that has
fragile x syndrome. I will ask my daughter when I talk to her again.
 
frankiesmom said:
he has the high palate too..his eyes to me look different, but probably because they cross alot.
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I am not around him, true, but he has stunning eyes. Captivating. Like his soul is in them. They speak. Do not know the right words.
 
frankiesmom said:
we have a surgery consultation on wednesday for the feeding tube..i HATE doing that because sometimes he does eat, and hes isnt underweight, but i think as he gets older, and starts losing his baby fat, the little bit he is eating wont sustain him, and its a huge battle to get the bare minimum in him.
as for getting a break from everyone..i am so lucky in that area! we bribe the older kids to babysit for a while on sundays and my husband and i go and just hang out and do things..it helps a lot. my older kids are soo good with frankie! i trust them more than anyone else, i think.
so you can see the features i am talking about? i have asked people, but i have noticed people really DONT want to tell someone that hey, their kid looks a bit off. which is annoying when i am trying to get an honest opinion!! :D :D
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His forehead almost look 'hydrocyphlis' (sp) but, other than that, I don't notice anything different. To me he beautiful. Maybe I just love perceived flaws in imperfection. :giggle: "Normal" bugs me. :laugh2:
 
I just want to thank you for sharing your and Frankie's journey with us.:kiss: I've learned *SO* much from your, and other, posts. Things I never even hear of.
 
CSign said:
My son got a g-tube placed when he was about 2 1/2. It's really not all that bad, and one less thing for you to worry about. If he doesn't eat well, you can just give him the nutrition through his tube.

That way you guys can relax, and OT can maybe help with some if the sensory stuff- without you guys feeling too much pressure.
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In fact, it takes the pressure off, because with the g-tube in place, you know he is getting nutrition in while you work with his sensory issues! :)
 
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