[tri-med] Re: Partial Trisomy 5q

----- Original Message -----
From: "Pamela Padgett" <padgettcastle@xxxxxxxxx>
>and maybe run across someone with similar situation or karotyping.

It's very hard with us "rare, rares"..........but one just never
knows!!!!!!! Alex is 16 yrs old and I've not found a both mosaic AND partial
t-14 yet.


>
> My daughter Genevieve was born 7-21-02

Congrats and welcome to Genevieve!



>chronic excema, small in stature, global delays,

I pulled these items out as they also applied to Alex when he was an infant.
Well, he still has exczema issues.......we're currently fighting it on the
palms of his hands. Used to be he'd get it on his arms, hands, legs, private
areas. It got better when we started using the amino acid L-Cystine (comes
in pill form and we'd crush it up and and put in food). It's good for skin.
Soaking in water is a plus.....we've never had success with the cortisone
cream on it's own plus I hate using that stuff on Alex knowning it's being
absorbed into his body and circulation internally.

Small statue: at birth (no trisomy diagnosis yet) Alex was diagnosed with
InterUterine Growth Retardation. He was full term at 19" and 4lb and 12oz.
Later we had him tested for GHD (growth hormone deficiency) at age 3 but was
told to come back when he was older for an in-hosp 24 hr test. Four yrs
later the test was 5 hrs in the hosp. We received the GHD diagnosis and
began GHT (growth hormone therapy). Alex did grow physically BUT we also saw
a large jump in his educational/mental abilities (the pediatric
endocronologist said the GHT wasn't what did it but I've talked with other
trier parents who's children on GHT did the same thing). It only makes sense
that growth hormones work on many parts of the body....not just vertical
growth---to me anyhow. lol He's still very small.........the size of a 10 yr
old or so.

As an infant Alex had "failure to thrive" (made me feel like an bad Mom) and
"developementally delayed". Not sure I've heard the "global delays"
phrase????



> > Scar from ear to ear hardly noticable, thanks to Mederma I think : )

Is mederma to reduce scars? Right after the cuts are done or applied after
scars have formed?

>. Pediasure and ice cream diet seemed to be working.

With us it was butter in/on everything! lol  But there have been past
discussions on the list about too much fat causing problems with our triers.
I don't have a prev post of it....does anyone else still have it?

It sounds as if you've had a rough start with Genevieve.........generally
for most of us it gets easier........with some bumps we hit along the way.
But this list is GREAT for venting those worries/concerns/fears/moments when
we question ourselves........without letting it all out we might just lose
our minds. And everyone here is great at listening.  :0)

Michelle mom to Alex (16,partial trisomy 14 mosaic) and Molly (12)
MichiganUSA


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

Other related posts: