[tri-med] Re: Baby news-reoccurence risk

----- Original Message ----- 
From: <Judessissy
>  Julian is 2 and diagnosed when he was about one, only because  he was 
> taken
> into the hospital because he was sick.  his  then Dr. had no concern for 
> his
> lack of weight gain even though the  family did

Oh gosh this sounds familiar to Alex's diagnosis. They noticed that 
something appeared to be amiss when he was born (small size, funky ears, 
clenched hands, unable to suck etc etc) But his chromosomes were "normal" 
when they tested - that happens when they test someone elses blood not 
his!!!

Consequently I was told that he was just prem and would catch up and some 
doctors even told me it was my fault because I was so distraught whilst I 
was pregnant.

It wasnt until he was 19 months old when the tests were repeated looking for 
a specific deletion on the 22nd chromosome that they found the trisomy. They 
never did test for the deletion on the 22nd chromosome, which he still may 
have for all we know.

But thats not the record. A 9 year old girl in New Zealand wasn't diagnosed 
until she went to an orthopedic surgeon because she had a "funny walk" - no 
other problems even as a baby and she was doing quite well at school. Some 
students were there and being thorough they ran genetic tests and found that 
in her blood over 90% of the cells had trisomy 18. If that had happened at 
birth she would have been written off totally as being so close to full that 
she stood no chance.

The best one though was a couple in New York, just your typical couple with 
nothing to make them stand out as having problems. It wasnt until they had 
their third child with Trisomy 18 that they were tested - and then it was 
found that one was mosaic T-18 and all their children therefore would have 
full trisomy 18.

>>My
> family and i have had no luck in finding another child with  what Julian 
> has,
> but would love to.  Julian (according to the genetics  team) is 1 of 16
> recorded cases in the world of Mosiac Partial Trisomy  1p.

Have you contacted SOFT? The one in 16 would be of children that are 
actually reported in the literature - there will be more out there who 
havent been "written up". I know for a fact that SOFT US have a break away 
group for Trisomy 1 and most have Trisomy 1p.

Give Barb a call and if she cant help I will pull out my contact 
information. In fact their used to be an article on the net not so long ago 
from a newspaper about a family who had a child Trisomy 1p. I know the 
contact info in the article is no obsolete but a little detective work may 
find the family.

Of course all T-1p families wont be an exact match because chances are they 
wont have the exact breakpoint, but it is nice to contact with others I do 
admit.

>> I just want my
> sister to have a healthy pregnancy,a  healthy baby (as we all want for
> everyone).  My family is my everything,  and means the world to me. 
> thanks for

Statistics are definitely on her side believe me!!

"We come to love not by finding a perfect person, but by learning to see an 
imperfect person perfectly"
Sam Keen

Keep Looking For Rainbows!!
   _--_|\
 /Karen \
 \ _.--._ /
          v Karen, Mum to Alex (10 years, T-18 Mosaic)
http://members.optushome.com.au/karens

                  Building ___ooOOoo__ Rainbows
                       www.trisomyonline.org
                  Families Helping Families On-line

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