[tri-med] Re: strange question! - Shannon & Attn: April

----- Original Message -----
From: "Shannon Poole"
>>Yesterday after I posted the first
> inquiry about anyone else with HTCM Fawna called me on the phone and
> also said she thinks this is what April's daughter might have, but she
> is a nursing school student and very busy and may not respond.

LOL - well the whole story is in the archives I am pretty sure if you want
to search...............
http://www.trisomyonline.org/tarch.htm
also Mo has a website.
http://marissakayroles.homestead.com/mostory.html
Mo had/has a number of cardiac issues - one of which was the cardiomyopathy.
The others were a PDA and VSD I think. She ended up having the amplatzer
surgery to close the PDA (one of the first). The cardiomyopathy is still
there but her heart function has improved to around 50% from memory and I
can't remember if the mitral valve is still leaking or not.

but here is some of what April has posted in the past

From 1999
>>Karen,
    Please feel free to post my name and any other information. I am willing
to do what ever it takes to fi nd out more information. I would like my
daughter to be able to help someone else also if that is posible. If I get
involved now, perhaps later I might be of some help to someone else. Let me
know if you need any other information to put me on the list.
    Marissa was born Dec . 3, 1998. We thought we had a healthy 9 pound 4 oz
baby. We thought wrong. At 3 months her dr felt that he was missing
something. Her neck kept popping and she wouldn't turn her head to the
right. She also has a large forhead, and a la rge bridge on her nose(looks
just like her dad). He ordered x-rays, sent them to Riley Hosptal in Indy,
and they couldn't find anything wrong with her neck. Then we were sent to
Dr. Stalker and pediatrician her in Peru. He found a torn neck muscle and
began to have us work with it. Then, we went back a month later. Her only
turning one way caused one side of her head to be flat in the back. He
ordered head x-rays to see if her soft spot was closed. We talked first. Sh
e slobbers more, she puts her hands in her mouth a lot now... normal....
blah blah blah. She sweats when she eats. WHOA. He played 20 ?s. When we
went to get the head x-ray, we discovered that he had ordered a chest x-ray.
When we got ba ck to his office, he said that he had ordered it b/c we said
she was sweating and that a month ago he had detected a heart mummer.
Usually no big deal. When we sa w her heart, we knew there was a problem.
Dr.Stalker said that he thought she had a large hole in her heart, and she
would need open heart surgery. That was a thursday. On Tuesday, we went to
Riley. After testing her, the dr. came in and said there was nothing he
could do for her. She has cardiomyopathy. The lon gest anyone has survived
on meds alone is 2 years. Then they must have a heart transplant;if there is
nothing else wrong with her. We were devestated. Preparing for surgery,
reading everything I could on her heart condition, and on transplant. I read
that only 6.4% of infants with cardiomyopathy get a hear t transplant, I
still believed she would be one. Then, last Friday the dr. ca lled. They had
found a genetic defect. She has an extra piece of chromosome 3, an d is
missing a piece of chromosome 10. She didn't know what this meant, I would
now have to see a genetic specialist. She didn't know why this happened. If
one of us did this, or if it was a mutation. The genetic people would test
us to see, and to see what the chances were of doing this again, blah blah
blah. This was a different dr than the heart dr. I don't think that she
realized I knew as much as i did. She said she didn't know if this would
make Marissa retarded when she was older or what. I said, "Well, that
doesn't really matter, since they wo n't give her a heart now does it?" She
didn't say anything for a long moment, let out a sigh and said, "Yes, well,
I guess that is the bottom line here." We were crushed, and are still not
dealing with it all very well.
    Our genetic apt was scheduled today for Tuesday. Luckily it is not too
long of a wait.
I looked up the sights you sent me. The y both have membership forms. I
printed both of them, and already mailed them. It makes me feel better to
keep busy.
I will keep you updated.
Thank you for your help and your intere st. Feel free to mail me if you ever
need to talk.
April Young>>

Hope it helps sweet

"Write injuries in sand, kindnesses in marble."
- French Proverb -


Keep Looking for Rainbows!!!
Karen, Mum to Alex (8, T-18 mosaic)
Sydney, Australia
http://members.optushome.com.au/karens
http://www.trisomyonline.org

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

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