Re: Welcome Charlie and his mom Barb!

[Guest guest]

Thanks Barb! Please read below to see what Barb had to say...

I'll keep this

message in mind, thanks. 

As a way of

introduction,

my son, Charlie, was born 15 years ago in Phoenix, Arizona, arriving

three weeks early.  He went " blue " and was immediately put into

Pediatric ICU to get more oxygen.  I didn't get to hold him for two

days.  The pediatrician who was sent in (I was going to pick one to

attend the birth that morning), was curt and gruff.   As part of the

delivery team, a cardiologist was rushed in as well.  She was wonderful -

but it was scary for me!

He came in and told

me

about his heart defect

and said they would send out for a chromosome test because it looked

like he had a simian

crease on his palm.  I didn't care if he were Down's or not; I

was concerned about his heart defect, which I later found out was AV

Canal Defect.  Charlie came out of ICU 36 hours later and came home with

me a day after that.  When we went for his first pediatric checkup to

that doctor's office, we were made to wait two hours - fun with a baby, a

two-year old, and my pain from the delivery.  We finally got in to see

the doctor, who waited a full two minutes to turn to face us, said " Yes,

he has Down's Syndrome " and abruptly turned back to his desk!  I told

him we were there for the checkup, got it, and I never went back to that

doctor again!

I found a good

pediatrician, who also happened to be a friend of the cardiologist.  A

year after his birth, I got a glimpse at his medical record.  Clearly

written across the page with his lab results for Down's  was " Mosaic. "  

Whoa - was I every upset!  The first pediatrician knew that - and never

said anything to us!

Charlie is a

delightful

boy - great memory, womanizer, loves all people for that matter, smart,

and a stubborn teenager.  There's a lot more special about him, but I'll

save that for later.

Grateful for all

that is,

Barb Spike -

Mom

Charlie White - age

15

Hellard

IMDSA President

brandy@...

~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~

International Mosaic Down Syndrome Association

PH:

Toll Free: 1-888-MDS-LINK

http://www.imdsa.org

Subject: Welcome another new family!

To: " imdsa " <mosaicds >

Date: Wednesday, May 26, 2010, 9:14 PM

Hi everyone! We have another new family joining us this week! Here is what she

had to say...

My youngest son was born 15 years ago with MDS, I want to get to know

other

families so we can share

our experiences and joys and to help

support new MDS families on their

wonderful journey.

Welcome! I'm so glad that you have found us! Please tell us your names, and

where you are from. How is your son doing? What grade is he in? Feel free to ask

questions, or give advice that you may have!

My name is and I have a 3 year old that has mDs.

Hellard

IMDSA President

brandy@...

~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~

International Mosaic Down Syndrome Association

PH:

Toll Free: 1-888-MDS-LINK

http://www.imdsa.org

[Guest guest]

Hi Barbara. Today this is not legal (not giving you correct information). A new

law changed that, but it does not mean everyone abodes by it, unfortunately.

Sorry that doctor did that to you. It happened to me (something similar on an

unquantitative count) and we did not find out until I persisted and found a

doctor to retest. My son was almost 4 when we found out the *truth*.

It is all the difference in the world, to me, between saying *abnormal* and

*normal*. (Not that anyone with Trisomy 21 DS versus MDS is abnormal, but I knew

my son was high functioning and I knew their diagnosis was wrong. i set out to

prove it and I did.) Many people have mosaicism and do not even know it and

function in society.

A wrong diagnosis with incorrect information can be more detrimental to your

child (and you) than a correct diagnoses with good current information.

>

>

> Subject: Welcome another new family!

> To: " imdsa " <mosaicds >

> Date: Wednesday, May 26, 2010, 9:14 PM

>

> Hi everyone! We have another new family joining us this week! Here is what she

had to say...

>

> My youngest son was born 15 years ago with MDS, I want to get to know

> other

> families so we can share

> our experiences and joys and to help

> support new MDS families on their

> wonderful journey.

>

>

> Welcome! I'm so glad that you have found us! Please tell us your names, and

where you are from. How is your son doing? What grade is he in? Feel free to ask

questions, or give advice that you may have!

>

> My name is and I have a 3 year old that has mDs.

>

> Hellard

>

> IMDSA President

>

> brandy@...

>

> ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~

>

> International Mosaic Down Syndrome Association

>

> PH:

>

> Toll Free: 1-888-MDS-LINK

>

> http://www.imdsa.org

>

>

>

>

>

>

>

>