Re: MDS Testing

[Guest guest]

It is very typical that when doing a chromsome test of any kind they usually

only test 20 cells max. This is why so many individuals with MDS are

misdiagnosed!

Beginning at the first of the year, IMDSA is going to try our best to change

these standards with our United States government. This will be a very slow

process, but one that we feel is very necessary. After we get something passed

with the US, then the standard could follow for the other countries.

On another note...and I will let speak on this too, according to

research, MDS is not passed down through families. MDS happens shortly after

conception (trisomy 21 happens at conception) so it would stand to reason that

MDS is not passed down but rather a " fluke " .

Kristy

gapakenham wrote:

,

I'm curious to know how you got your geneticist to test 500 cells.

When I asked for the lab to run the test for Mosaic they only looked

at 50 cells. Is this something that your insurance paid for or did

you pay for it; and if you did do you mind sharing with us how much

that cost?

Also, are you saying that you believe that ALL MDS is passed down as

a genetic anomaly? Or just your family?

This is fascinating; please keep us updated. I manage

clinical/pharmaceutical research studies and am a

pharmacologist/toxicologist by training. So this kind of stuff is

very interesting to me; not to mention that my 6 month old has MDS

and I had to ask for the MDS test.

Did everyone else have to ask for the MDS test? How many cells were

tested?

Thanks,

Gwyn

Mom to Mark MDS 6 months

>

> No, Mosaic Trisomy 21. And you are right to say you have never

heard of it. There was some research done on inherited trisomies and

I am pestering my geneticist for it now (he told me I had to keep on

him to remind him to ask someone for it).

> We are so excited because we are changing history and the way Down

Syndrome is looked at in general. If indeed it is true that Mosaic

DS is caused after conception then the fluke occurs without fail in

our family. However, we believe currently that it is passed down as

an inheritance before conception. This is what we are trying to find

out.

> Kristy was going to try to get him (the geneticist) to do a write-

up on us in a journal so that everyone would be aware of this. I am

all for this.

> Strange thing is they said my son had Trisomy 21 (from a 20 cell

count at birth) and I knew they were wrong. I kept pressing until I

found Dr. Flannery and he retested with 500 cells and found a 50%

mosaicism. (BIG DIFFERENCE). Then he referred me to a study that

reflected that when analyze only 7 or 8 cells out of 20 cells, then

you have an error rate of 46% (within a 99% certainty). With 500

cells, there is only a 1% misdiagnosis rate within a 99% certainty.

Well, that explained his misdiagnosis and it disturbed me greatly

(for other people).

> Then after he looked at my girls, he could see the remnants of

epicanthic folds (even in my 20 yr old) and also he saw other signs

like sandal gap deformity, etc.... Strangely enough, we have

physical signs that virtually disappear (to the untrained eye) over

time (the eyes). The gap in the toes and their sydney line (for the

girls) remain even 20 years later. Amazingly, we only have

susceptibility to respiratory problems (asthma that is stress or

allergy induced and sinus problems); all other health issues (heart,

etc...) are clear.

>

>

> To: MosaicDS@...: satterfieldangie@...: Thu, 30 Nov 2006 09:21:57 -

0800Subject: RE: What was the hospital stay for your child

immediately following bir...

>

>

>

>

> ,Has your family been diagnosed with the Mosaic Translocation

Downs (MTDS)? It was my understanding from my son's genetics

counseling that the translocation was the form that was passed on.

The other forms were just a chromosomal mix up of the egg or sperm.

I would be very interested to hear the results of your families

tests, if you don't mind sharing. I have been trying to learn as

much as I can about MDS since my sons diagnosis in Setpember, and

what you are sharing is new information that I haven't heard of

before about MDS.Thanks,Angie>From: TenEyck

>Reply-To: MosaicDS >To:

<mosaicds >>Subject: RE: What was the hospital

stay for your child immediately >following bir...>Date: Thu, 30 Nov

2006 12:01:27 -0500>>You are understanding correctly. Apparently my

sibs, my nieces amd nephews >and my maternal lineage does as well.

We are waiting on the chromosomal >results for all. (My son had his

back first.) Apparently, my 20 year old >displays a majority of the

symptoms. We think my husband may have it also. >The geneticist says

it is familial and inherited, but we are currently >looking into

blood only.>>>>>http://discoverspaces.live.com?

source=hmtag1 & loc=us>>[Non-text portions of this message have been

removed]

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[Guest guest]

Jodi

Be prepared for the doctor to possibly try to discourage you from testing.

Most doctors do. If this is the case, let him know that you want to be sure

because of the health risks involved with MDS. You can state thyroid disease,

Gastrointestinal track problems,Atlantoaxial Instability (misalignment of the

top two vertebrae of the neck), Increased risk of Leukemia. Bring with you a

list of the symptoms you find that make you believe that she has MDS. Be

prepared and go in with confidence!

Typically when a person is tested for Trisomy 21 (Down syndrome) they test

only 20 cells in the blood. For a person with mosaic Down syndrome, at least 50

if not 100 cells should be tested. And, because mosaic Down syndrome is often

found in only one cell line it is recommended that not only the blood be tested

but also the skin. Depending on the doctor and the lab, this can be done in 2

ways. The less invasive way is to have a buccal smear (cheek swab) where they

brush the inside of the cheek to gather skin cells. The other way is to take a

small piece of skin from the arm or the leg. The should deaden the area, so it

shouldn't cause pain.

The doctor may refer you to a genetic counselor. It just depends on the doctor

and his capabilities in the office.

Finally, do not take NO for an answer! This is your daughter and it is your

right (and her's) to know if she has a genetic disorder. If you have to push,

then push!

Let us know how it goes!

Kristy

Jodi wrote:

Hi everyone,

I have decided to talk to Gracie's Dr. about MDS at her appt. next

week. I was just wondering about the testing involved for diagnosing

MDS. I understand there will have to be a blood test, but are there any

other tests that will need to be done? Will her pediatrician be able to

do these tests within his office or will we need to be referred to a

genetics specialist?

I would like to thank everyone who has helped me come to the decesion

to at least bring my concerns up with Gracie's Dr. Of course I will let

everyone know what her Dr. thinks, and if the Dr. does agree to do the

testing I will let everyone know the results. I hope I am just being a

hypochondric(sp)mom! But in the event that I am not, it is wonderful

knowing there is such a wonderful supportive group right at my finger

tips!

Thanks again to Everyone!

Jodi (mom to Gracie 7yrs. & " adopted " mom to Sasha 13yrs, Jerry 7yrs,

5yrs, Josh 3yrs & 9mos.)