frankies diagnosis

Bottesini said:
You also need to find some help sometimes from the average person who is going to be really mean just because you are different.

Then they will pay lip service to how everyone should be accepted, but the different person is often attacked by the ones claiming they are inclusive.

I have a lot of experience with this , sadly. It's important to have someone to buoy you up when people are nasty.
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Sadly, Bott, I have to validate everything you have just said. It should not be that way.
 
rebeccalj said:
True. We're probably isolated here so it seem worse than it is out in the whole world.
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I think the unfortuante thing is that the majority of health care professionals to use the medical model in these things, which pathologizes everything. The chances of running into one of them is greater than someone who does not take a pathological view simply because there are more of them.
 
whatdidyousay! said:
My niece that has asperger has slow muscle tone and she is not able to made eyes contacts when talking to a person. She had to see a few doctors before anyone knew she had asperger .
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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:
 
MedLink

this even says that having a vaulted palate is also another symptom..and he has one that is very vaulted..and strange looking. it looks like an inverted v on the roof of his mouth.
 
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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Testing for Fragile x in Frankie's case makes a lot of sense.
 
ive wondered for a while but..if he doesnt, i would feel like a fool for even entertaining the idea, but he fits it so perfectly..even his facial features fit it and with the hearing loss/delays combination, it just makes sense.
 
Wirelessly posted

get him tested for all genetics and chromosomes he have alot of features that indicated genetic condition. Btw that head cock and head tapping is probably self-stim, not necessary autistic characteristic. But the important thing is love him for who he is and if people stare, you said 'I know isnt he so cute' and consider G-tube its god-send for some of parents with child that doesnt eat
 
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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yeah I see it, most people wouldnt say yes they see it because they dont want to admit or hurt their feeling if the child had unusual ears, or other features.
 
and i dont blame them..i know when i see a child who..well, different looking..i would cut my own arm off before saying "hey..your kid looks brain damaged, you need to have that checked out!"
mainly, because one of my sons...oh man...he brought a friend over once, and i was 100 percent sure this child was mentally delayed..and i was talking to him in a most condescending manner, and well..the kid was completely normal, he just had thick glasses, i believe..its been forever. but yeah. it was mortifiying and im just thankful the kid didnt realize what i had done!!
 
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haha yeah I know what you mean I dont ask people whats wrong with them I'll try look at signs and figure it out on my own (I'm studying in medical field so I know some) or interact with people and eventually they'll tell me by their own. But the mother always know their child the best remember that ok? Meet up with geneticist they will look at all features and run genetics tests and complete chromosome count.
 
Single palmar crease is a very important feature. I'm going to PM you some info.
 
what is single? he has the deep simian crease on both hands..would that be..double? or is it the one line...?
 
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.
:D
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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.
 
sallylou-albums-misc-picture5193-singlepalmar.jpg


The term used to be simian crease or line. It's a negative reference so now it's single palmar crease.
 
the second one looks weird because i had his thumb flexed forward..i was trying to get a closeup and failed miserably!
 
That's interesting because it doesn't look like the picture I posted. Give me a few minutes to look it up.
 
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