Re: I have another question?

[Guest guest]

Hi Carolyn and Lou-

That is a good question. Here is one answer:

1st: One of the chromosome tests looks to see if the child got Chromosome #7

from

just one parent, instead of 21 from Mom and 21 from Dad. (Uniparental Disomy).

To

do this, you would have to get blood from the Mom, Dad and fetus, and then do

the

analysis. This analysis takes many months to complete, since not many labs do

it. Plus, only 10% of all RSS kids even show this trait, so even if you were

able

to do this analysis, you still wouldn't know your child has RSS if the test came

back negative.

2nd: Even the full chromosome analyses that are done after children are born,

are

only high level analyses. They don't look at the gene level (for the most part)

and only look for common chromosome abnormalities. It's sort of like the scene

from Patriot Games (movie with on Ford). The satellite camera can focus

in

on a state, and then on a city, and then on a building, and then on a doorway,

and

finally, even on the face of a human being! In this case, the chromosome

analysis

is still just looking at the states and towns, barely getting at the detailed

analyses.

Our had 2 chromosome analyses done, and both came back " normal " .

3rd. Finally, even if in-utero genetic tests could show RSS, would it show

whether it was mild or severe? What would parents want to do with this

information, since there is so much to learn about RSS and since it doesn't

really

affect intelligence or quality of life? I'm kind of glad that parents can't

test

their fetus' for all possible " abnormalities! " (Although, I guess I wouldn't

have

minded knowing ahead of time that my would suffer from

" I-will-not-listen-to-anything-Mommy-or-Daddy-tell-me-because-I-am-a-stubborn-3-\

year-old-ITIS " .

I think Ken's has the same syndrome. :-)

I hope this helped,

Katy

Mom to , almost 4, 32 pounds, 38 " , GHTsince April, Periactin since May 99.

lulujjnono@... wrote:

> Me & Lou (my husband that is) were talking & we didnt have an answer for this

> can you all help? If RSS is a chromosome thing then how come when I had my

> amnio done (when pregnant with Noah) the results came back that all the

> chromosomes were fine? We dont understand? Thanks Carolyn (My3Sons Noah w/RSS)

>

> [

[Guest guest]

Carolyn -

Re your comment " if RSS is a chromosomal thing " - " how come my amnio came

back normal. " NO!!! - I hope I didn't blur the waters....

No one knows yet if RSS is chromosomal or not, or if it for some kids and not

others. Also, it appears that markers are showing up (or mosaicism is

another word) with some chromosomal testing but not others (e.g., skin

biopsies but not blood tests), for some kids, but not all.

I think if we all ask our independent geneticists the same ?s, maybe we will

begin to get some merging answers. I am guessing in thenext 10 years, we

will know a whole heck of a lot more.

S.

[Guest guest]

katy badt-frissora wrote:

>

" I-will-not-listen-to-anything-Mommy-or-Daddy-tell-me-because-I-am-a-stubborn-3-\

year-old-ITIS " .

> I think Ken's has the same syndrome. :-)

>

Just for the record---Adam has the same syndrome. If you guys ever hear of a

cure (before I

completely go gray and rip all my hair out)--don't forget to let me know about

it )

Debby

>