just wondering if anybody knows anyone with this

[chloe]

hi all,

part of the reason iv been away for so long is my little girl has been diagnosed with an extra chromosome (lots of hospital visits lol).
first of all they thought she was deaf, blind and autistic but being one and a half they couldnt test her for it but just kept an eye on it.
we saw a person about her ears and she was fine...just selective hearing lol
then as she got to 3 they really looked in to more, on off chance blood tests for anaemia they found this extra chromosome.

its officially called duplication of 22q11.2
there r only 2 other children in the world that have it so very little is known about it. one of the children is severely disabled and the other is similar to how el is, learning difficulties, behavioural problems and mobility difficulties.
at first they got it mixed up with the deletion of this chromosome which can cause childhood cancers and leukemia....so that was slightly unnerving, to say the least.

just wondering if anyone has any knowledge with chromosomal defects/issues or by pure chance, knows one of these children.
would just be amazing to learn a bit more as the docs know nothing apart from what the other kids have got.

thanks
chloe
x

 

[chloe]

bump up

 

[Cakilla]

Let me start of by saying WB!!!
I have never heard of it before.
I do hope that she is ok

 

[chloe]

Let me start of by saying WB!!!
I have never heard of it before.
I do hope that she is ok

lol thanks, it feels good to be back!

shes fine hun thanku, bit dopey in general lol great fun.
no not alot of people have heard of it obviously lol but always worth a try.

oh and my best mate has ur avatar tattooed on his chest.
x

 

[Cakilla]

haha I am going to get it tatooed in the middle of my upper back, I am going to college right now I am going to get a degree in gaming arts and design and so needless to say I do a ton of drawing and I have been working a dragon peice thats going to be a left sleeve that ends up right over my heart ... its still a work in progree but its getting there.

 

[Lepisosteus platyrhincus]

Ur lucky. trisomy of the 21st chromosome is what causes Down's syndrome. Most other trisomy's result in severe retardation or even death. so to have only minor behavior problems is great!! what other issues does she have if u dont mind my asking? Also how old are u, again if u dont mind my asking??

i can help with a very small amount of info but not a whole lot. My knowledge is spread out over many subjects.

 

[chloe]

haha I am going to get it tatooed in the middle of my upper back, I am going to college right now I am going to get a degree in gaming arts and design and so needless to say I do a ton of drawing and I have been working a dragon peice thats going to be a left sleeve that ends up right over my heart ... its still a work in progree but its getting there.

they would be AMAZING huge, my mates r small and a bit weedy for my liking, nothing like a nice big tattoo.
i draw loads and designed all my own tattoos, got the next 2 drawn up...just waiting for the money lol
x

 

[chloe]

Ur lucky. trisomy of the 21st chromosome is what causes Down's syndrome. Most other trisomy's result in severe retardation or even death. so to have only minor behavior problems is great!! what other issues does she have if u dont mind my asking? Also how old are u, again if u dont mind my asking??

i can help with a very small amount of info but not a whole lot. My knowledge is spread out over many subjects.

yea but we have downs in my family anyway so i would have been more experienced in that than this lol
iv just turned 23 and shes 4 next week.
she blacks out, like shes walking along and next thing shes walked in to a parked car (i try to keep her away from moving ones lol) she seems to go deaf and cant see anything but no one knows y.
she only sleeps 3 hours a night, has fits where she just scream with either her eyes shut or open constantly and they last anywhere from 6 to 28hours.
cant really talk but can count to 150 and could do her abc before she started trying to talk.
erm...just trying to think of everything lol

 

[chloe]

oh and also, all 3 of them look the same. u know how downs look the same, well she el and the other kids r like that, all blond, blue eyes which are a funny shape, same nose, mouth, translucent skin, same hands and feet...but they look completely normal...does that make sense?

 

[Lepisosteus platyrhincus]

wow, so age isnt a factor. prob because of family history.
sounds like she does ok, exspecially considering her trisomoy. like i said, most with trisomoy end up with severe mental retardation or death. Alot of that can prob be worked on with the proper help(except obviously the random sight loss) U and her are very lucky.
keep us updated on her!!