[tri-med] Re: "Judging Amy" is on...

And just as a reminder - Alex has between 60 - 80% of blood cells showing
the trisomy 18. At birth they knew "something" was wrong because he was
small for dates and had "funny" ears, he also appeared to be paralysed down
one side - but according to doctors that resolved within an hour of birth.
His apgars were 9 and 10 and despite weekly ultrasounds - nothing was picked
up. Alex was discharged on day 8 with everyone telling me that everything
was fine - the only problem was his funny ears and they could be fixed late
by plastic surgery.
Bloods were done to check chromosomes and they came back "normal".
I was told that everything was fine for 15 months!!!!!

Looking back there were a LOT of "soft" signs that it was T-18 - the rosebud
mouth, the micrognathia, the hand posturing, syndactyly, poor suck, rocker
bottom feet and so on. Not to mention the neonatal problems that happened
after he was discharged.

But looking back is different - unless someone "knew" what to look for they
wouldn't have picked T-18. We forget that most ob's will still only ever see
1 or 2 cases of T-18 in their entire lives. Most will NEVER see a mosaicer!!
(remember mosaicism occurs in only 1 -2% of all cases of T-18) And Alex's
doctors would still not know what to look for. Most doctors look for the
text book stuff - and most are looking for it all to happen together and for
our kids to appear like "monsters." - we know that they don't - but then we
have met our kids :-)

From the sounds of it the producers still have a lot of scope - I wonder too
if the tri connection for the story line is Paige. Paige's mosaicism was
around 7% and she certainly had a fan club amongst the media judging by the
number of TV folk who write to me regarding my web page dedicated to Paige.
People who met and were inspired by Paige during the course of her life. Not
one person that she ever met could ever forget Paige - or fail to be
inspired by her.

"Kind words do not cost much. They never blister the tongue or lips. They
make other people good-natured. They also produce their own image on men's
souls, and a beautiful image it is."
- Blaise Pascal (1623-1662) -

Keep Looking For Rainbows!!
Karen, Mum to Alex (8 years, T-18 Mosaic)

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

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