Please Help with diagnosis

[Guest guest]

I suspect my daughter Poppy (age 2 1/2) has MDS, so far I have found that the

doctors I speak to don't know much about MDS.

At 6 months old she was sent for a blood test and it came back as normal female

- I was then told that there was nothing wrong with her and just to carry on as

normal.

A few months ago I went to the doctors (one I have been seeing only for r a few

months)as Poppy has a lot of respiratory problems, and the doctor suggested I

have her tested as he suspected she had DS. I told him I'd already done the

test & asked for further testing.

I am due to see a genetics team in May and was wondering what types of test

should be carried out and should they give a defined result?

Many Thanks

Diane

[Guest guest]

Hi Diane,

Your heading in the right direction! Hang in there! 

When testing have them to check both skin and blood cells. To check for skin

cells it's just a simple check swab with a Qtip. We also recommend that they

look at least 500 cells if not then 100 instead of the standard 20 cells

they normally look at. 

Feel free to take in our professional brochure to give them when

you. http://imdsa.org/resources/Documents/Research/professionalbrochure1.pdf

What state are you in? 

  

Hellard

President

International Mosaic Down syndrome Association (IMDSA)

P.0. Box 354~ Trenton ~ OH ~ 45067

1-888-MDS-LINK ~ 1- ~ (FAX) 1- 

http://imdsa.org

>________________________________

>

>To: MosaicDS

>Sent: Wednesday, February 22, 2012 7:13 AM

>Subject: Please Help with diagnosis

>

>

> 

>I suspect my daughter Poppy (age 2 1/2) has MDS, so far I have found that the

doctors I speak to don't know much about MDS.

>

>At 6 months old she was sent for a blood test and it came back as normal female

- I was then told that there was nothing wrong with her and just to carry on as

normal.

>

>A few months ago I went to the doctors (one I have been seeing only for r a few

months)as Poppy has a lot of respiratory problems, and the doctor suggested I

have her tested as he suspected she had DS. I told him I'd already done the

test & asked for further testing.

>

>I am due to see a genetics team in May and was wondering what types of test

should be carried out and should they give a defined result?

>

>Many Thanks

>

>Diane

>

>

>

>

>