Don't believe in miracles, count on them!!!

[Guest guest]

Hi Everybody!

My only daughter Bianca was born at September 1, 2006. At bird she was

suspected of having Down syndrome!

The first karyotype I made her - at the age of 1 month - reveled

Mosaicism (The analyze was made on 11 blood cells - 6 blood cells had

trisomia 21 and 5 blood cells not)

The most known Romanian specialist in Down syndrome a wonderful

doctor, without knowing this result, could not did a clinical diagnose

about it. (He usually can tell in 99% of cases if a child has or not

have Down syndrome based only a clinical examination). In our case he

can not tell either she has or either she has not! My girl does not

have any typical Down syndrome signs, except some vague face

characteristics. She also sometimes gets her tongue out of her mouth,

but this not happen regularly!

We did a second karyotype at another hospital at her age of 1 and 1/2

month. This second karyotype reveled that she DOES NOT HAVE any

Chromosomal Anomaly (test was made on 33 cells - all of them was found

normal).

With booth results we come back to this doctor which once again look

at the girl, and as the first time, he can not said Yes or No and

recommend us a third analyze at another hospital - a kind of mediation

between the other two laboratories!

So we did her a third karyotype on another laboratory. This third

karyotype revealed also that my girl DOES NOT HAVE any Chromosomal

Anomaly (test was made on 55 blood cells - all of them was found

normal). This happened with a few days before Christmas. For us was a

miracle, a Good miracle.

My girl now has 4 months and ½, and she is doing just well, very

healthy, eat well and she is a very active child! My only concern is

that she still has a kind of Down face and I can’t rid of that from my

mind!

Look below there are some older pictures with her:

http://www.flickr.com/photos/esuper/

I read on this address: http://www.ds-health.com/mosaic.htm

“The usual way in which mosaic Down syndrome is discovered is through

genetic testing of the baby's blood. Typically, 20 to 25 cells are

examined. If some of the cells have trisomy 21 and some don't, then

the diagnosis of mosaics is made. However, this blood test can only

determine the level of mosaics in the blood cell line.

While mosaicism can occur in just one cell line (some blood cells have

trisomy 21 and the rest don't), it can also occur across cell lines

(skin cells may have trisomy 21 while other cell lines don't). In the

latter case, it may be more difficult to diagnose mosaicism.â€

This could be the explanation ? She still can have MDS, but only

located on skin cells?

How will this affect her ? This will explain his kind of Down look

(very vaque once again i said that)

Did anyone know something about that? Did anybody meet something like

that?

Sorry for my bad English!

Many thanks and kind regards,

Razvan Teodorescu