Re: Another Testing Question

[Guest guest]

My daughter had a skin test done (to test for another kind of mosaicism

actually), at, oh, I think she was about 9- so old enough to talk to me about

it, and how it felt, etc.

They took a small plug of skin from under her arm. She was numbed, and they

used a lil tool to take a little circular plug of skin. They packed the

plug right away, so there'd be no infection, and had her wait a lil bit, before

bandaging her up. She was nervous, but ended up giggling the whole time

cause she couldn't feel anything at all! It never bothered her, even later

that

day when the numbness wore off. I think we just kept tylenol around in case

of pain. She does have a little scar, but its under her arm, near her

armpit- it's not something everyone sees.

With blood, they just have to check many more cells, because, its the WBC's

they check...and, of course those are part of the immune system. One

geneticist explained to me, that, just due to the nature of the cells alone, it

being their job to " kill off " anything foreign or flawed, the blood can be

trickier to test. I think I would request a minimum of 50 cells be counted.

The

other's here might even say more than that!

good luck!

Angel

mom to 15

and 5 sibs

In a message dated 9/22/2008 6:40:22 A.M. Mountain Daylight Time,

alfredpuente@... writes:

I talked to my husband and after reading your responses from my first

post, we decided to test our little girl. No matter what

recommendations or suggestions are given to us by doctors. I need to

know and thank you and Kristy for your personal experiences. Now

my new questions are what test should I order aside from a FISH study.

How many cells need to be tested? What type of tests have you all done

to find out the definite diagnoses? What type of tissue was examined

aside from blood? Is it going to hurt her if I decide to do a skin

test? I hope to hear from anyone that is going through or has gone

through this and post the names of the tests or tell about their

experience. Again if anyone has the name of a dr. I can see in the

Dallas, Tx. area feel free to give me a name and number.Thank you

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[Guest guest]

I am glad to know that you and your husband have made a decision on what will

help ease your minds.

This is what you should ask for:

You want a Karyotype

You want at least 100 cells ANALYZED (the reason I say that is because just

because they pull 100 cells does not mean they look at all 100)

If the second cell line does not show up in the blood sample, then you ask for

a skin test. Sometimes, but not always, the second cell line can show up only in

the skin or only in the blood. So, asking for that second test will give you an

accurate reading. If you read that one article of mine you saw where one of our

member's daughter did not have the cells in her blood at all and finally during

adnoid surgery they tested 200 cells and were able to find the extra

chromosomes.

I prefer that they do a buccal smear over the skin test, but a lot of labs

wont do it. A buccal smear is just taking cells from a brushing of the inside of

the cheek. They do the skin test in different ways and some have said they have

had no problems at all, while others had said their child was in pain or had a

scar. Most of the time it doesn't hurt if you have someone experienced. And, I

imagine that they deaden the area before they do it.

I don't know any doctors in Dallas, but has her pediatrician that

she likes so much there. My son and daughter in law live in Irving and I could

ask them what doctors they use, but it wouldn't be any specialists because the

specialists they use are in Houston. (sorry)

Please keep us updated and let us know how things go.

Kristy

fijpuente wrote:

I talked to my husband and after reading your responses from my first

post, we decided to test our little girl. No matter what

recommendations or suggestions are given to us by doctors. I need to

know and thank you and Kristy for your personal experiences. Now

my new questions are what test should I order aside from a FISH study.

How many cells need to be tested? What type of tests have you all done

to find out the definite diagnoses? What type of tissue was examined

aside from blood? Is it going to hurt her if I decide to do a skin

test? I hope to hear from anyone that is going through or has gone

through this and post the names of the tests or tell about their

experience. Again if anyone has the name of a dr. I can see in the

Dallas, Tx. area feel free to give me a name and number.Thank you

Kristy Colvin

IMDSA President

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

International Mosaic Down Syndrome Association

PH:

Toll Free: 1-888-MDS-LINK

http://www.imdsa.org

http://www.mosaicmoments.today.com

[Guest guest]

I have to disagree with Kristy. I order to get an accurate result, you

MUST test at least 500 cells. Otherwise, it can be missed. 500 cells

will tell youwithin 99% confidence limits. This information comes from

Dr. Flannery AND Dr. Kulyhara at Medical College of Georgia. Do

yourself a favor and ask for 500 cells to be written on the script.

Also, FYI, there is a new method called the " SKY " method. As opposed to

the " FISH " method, it is in varying colors. This method is EXCELLENT

for picking up on various translocations that would otherwise be

overlooked by a black and white flourescence test.

In the end,you will do what you will, but we did not want to keep

getting stuck with a needle. Do it right the first time and you will be

more happy, I think.

SUSAN

P.S. You will probably only be able to get insurance to pay for one

time testing. Make it count.

[Guest guest]

Well, what I actually said was " at least 100 " The reason why I recommend that is

because I know that the majority of doctors will argue with the 500 cells. Also,

I recommended that 100 cells be analyzed. When you ask for 500 cells they still

will not analyze all 500 in most cases. So, when you ask that " at least 100

cells be analyzed " you are actually asking for 500 cells but it is just said in

a different way that doctors don't argue as much with.

Kristy

wrote:

I have to disagree with Kristy. I order to get an accurate result, you

MUST test at least 500 cells. Otherwise, it can be missed. 500 cells

will tell youwithin 99% confidence limits. This information comes from

Dr. Flannery AND Dr. Kulyhara at Medical College of Georgia. Do

yourself a favor and ask for 500 cells to be written on the script.

Also, FYI, there is a new method called the " SKY " method. As opposed to

the " FISH " method, it is in varying colors. This method is EXCELLENT

for picking up on various translocations that would otherwise be

overlooked by a black and white flourescence test.

In the end,you will do what you will, but we did not want to keep

getting stuck with a needle. Do it right the first time and you will be

more happy, I think.

SUSAN

P.S. You will probably only be able to get insurance to pay for one

time testing. Make it count.

Kristy Colvin

IMDSA President

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

International Mosaic Down Syndrome Association

PH:

Toll Free: 1-888-MDS-LINK

http://www.imdsa.org

http://www.mosaicmoments.today.com

[Guest guest]

I forgot to add this. Dr.Flannery says the buccal smear is not as

accurate, for whaever reason, as the skin biopsy. The skin " punch

test " is precisely that, a skin biopsy. The geneticist told me they

do hurt and they leave a scar. We elected not to do those because it

is VERY invasive. A biopsy is a biopsy, and unless you have a high

tolerance for pain, they do hurt. IMHO, lidocaine also hurts, as it

burns when injected. Lidocaine is a local anesthetic..

> I talked to my husband and after reading your responses

from my first

> post, we decided to test our little girl. No matter what

> recommendations or suggestions are given to us by doctors. I need

to

> know and thank you and Kristy for your personal experiences.

Now

> my new questions are what test should I order aside from a FISH

study.

> How many cells need to be tested? What type of tests have you all

done

> to find out the definite diagnoses? What type of tissue was

examined

> aside from blood? Is it going to hurt her if I decide to do a skin

> test? I hope to hear from anyone that is going through or has gone

> through this and post the names of the tests or tell about their

> experience. Again if anyone has the name of a dr. I can see in the

> Dallas, Tx. area feel free to give me a name and number.Thank you

>

>

>

>

>

>

> Kristy Colvin

> IMDSA President

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

> International Mosaic Down Syndrome Association

> PH:

> Toll Free: 1-888-MDS-LINK

> http://www.imdsa.org

> http://www.mosaicmoments.today.com

>

>

>

[Guest guest]

IMHO, A good geneticist, who should be the one writing the script for

the test anyways, will not argue with 500 cells.

> I have to disagree with Kristy. I order to get an

accurate result, you

> MUST test at least 500 cells. Otherwise, it can be missed. 500

cells

> will tell youwithin 99% confidence limits. This information comes

from

> Dr. Flannery AND Dr. Kulyhara at Medical College of Georgia.

Do

> yourself a favor and ask for 500 cells to be written on the script.

> Also, FYI, there is a new method called the " SKY " method. As

opposed to

> the " FISH " method, it is in varying colors. This method is

EXCELLENT

> for picking up on various translocations that would otherwise be

> overlooked by a black and white flourescence test.

> In the end,you will do what you will, but we did not want to keep

> getting stuck with a needle. Do it right the first time and you

will be

> more happy, I think.

> SUSAN

> P.S. You will probably only be able to get insurance to pay for one

> time testing. Make it count.

>

>

>

>

>

>

> Kristy Colvin

> IMDSA President

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

> International Mosaic Down Syndrome Association

> PH:

> Toll Free: 1-888-MDS-LINK

> http://www.imdsa.org

> http://www.mosaicmoments.today.com

>

>

>

[Guest guest]

I know that a lot of doctors argue with this test, however since they can and do

use it for DNA tests, I don't really see the problem. I have spoken many times

with our main researcher on this subject and she says that the only reason why

some do not accept it is because it is a newer proceedure and many are stuck in

their old ways.

MHO

Kristy

wrote:

I forgot to add this. Dr.Flannery says the buccal smear is not as

accurate, for whaever reason, as the skin biopsy. The skin " punch

test " is precisely that, a skin biopsy. The geneticist told me they

do hurt and they leave a scar. We elected not to do those because it

is VERY invasive. A biopsy is a biopsy, and unless you have a high

tolerance for pain, they do hurt. IMHO, lidocaine also hurts, as it

burns when injected. Lidocaine is a local anesthetic..

> I talked to my husband and after reading your responses

from my first

> post, we decided to test our little girl. No matter what

> recommendations or suggestions are given to us by doctors. I need

to

> know and thank you and Kristy for your personal experiences.

Now

> my new questions are what test should I order aside from a FISH

study.

> How many cells need to be tested? What type of tests have you all

done

> to find out the definite diagnoses? What type of tissue was

examined

> aside from blood? Is it going to hurt her if I decide to do a skin

> test? I hope to hear from anyone that is going through or has gone

> through this and post the names of the tests or tell about their

> experience. Again if anyone has the name of a dr. I can see in the

> Dallas, Tx. area feel free to give me a name and number.Thank you

>

>

>

>

>

>

> Kristy Colvin

> IMDSA President

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

> International Mosaic Down Syndrome Association

> PH:

> Toll Free: 1-888-MDS-LINK

> http://www.imdsa.org

> http://www.mosaicmoments.today.com

>

>

>

[Guest guest]

IMHO, A good geneticist, who should be the one writing the script for

the test anyways, will not argue with 500 cells.

> I have to disagree with Kristy. I order to get an

accurate result, you

> MUST test at least 500 cells. Otherwise, it can be missed. 500

cells

> will tell youwithin 99% confidence limits. This information comes

from

> Dr. Flannery AND Dr. Kulyhara at Medical College of Georgia.

Do

> yourself a favor and ask for 500 cells to be written on the script.

> Also, FYI, there is a new method called the " SKY " method. As

opposed to

> the " FISH " method, it is in varying colors. This method is

EXCELLENT

> for picking up on various translocations that would otherwise be

> overlooked by a black and white flourescence test.

> In the end,you will do what you will, but we did not want to keep

> getting stuck with a needle. Do it right the first time and you

will be

> more happy, I think.

> SUSAN

> P.S. You will probably only be able to get insurance to pay for one

> time testing. Make it count.

>

>

>

>

>

>

> Kristy Colvin

> IMDSA President

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

> International Mosaic Down Syndrome Association

> PH:

> Toll Free: 1-888-MDS-LINK

> http://www.imdsa.org

> http://www.mosaicmoments.today.com

>

>

>

[Guest guest]

Are you speaking of the buccal smear over the biopsy? If so, I am not

sure why he refused it or why he said it was not as accurate. Is the

smear a newer procedure over the biopsy? I am not sure.

I do know that I have decided to e-mail the geneticist and ask for

the SKY test to rule out reciprocal translocations for us and other

translocations for CH

> > I talked to my husband and after reading your responses

> from my first

> > post, we decided to test our little girl. No matter what

> > recommendations or suggestions are given to us by doctors. I need

> to

> > know and thank you and Kristy for your personal

experiences.

> Now

> > my new questions are what test should I order aside from a FISH

> study.

> > How many cells need to be tested? What type of tests have you all

> done

> > to find out the definite diagnoses? What type of tissue was

> examined

> > aside from blood? Is it going to hurt her if I decide to do a

skin

> > test? I hope to hear from anyone that is going through or has

gone

> > through this and post the names of the tests or tell about their

> > experience. Again if anyone has the name of a dr. I can see in

the

> > Dallas, Tx. area feel free to give me a name and number.Thank you

> >

> >

> >

> >

> >

> >

> > Kristy Colvin

> > IMDSA President

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

> > International Mosaic Down Syndrome Association

> > PH:

> > Toll Free: 1-888-MDS-LINK

> > http://www.imdsa.org

> > http://www.mosaicmoments.today.com

> >

> >

> >

[Guest guest]

I had the Hospitals Head Geneticist doctor retest my daughter for MDS. Even

though I asked for 500 cells to be tested he only checked 30. So even a good

geneticist will argue about how many cells need to be tested!! I'm still

wondering if my daughter is MDS or DS.

Re: Another Testing Question

IMHO, A good geneticist, who should be the one writing the script for

the test anyways, will not argue with 500 cells.

> I have to disagree with Kristy. I order to get an

accurate result, you

> MUST test at least 500 cells. Otherwise, it can be missed. 500

cells

> will tell youwithin 99% confidence limits. This information comes

from

> Dr. Flannery AND Dr. Kulyhara at Medical College of Georgia.

Do

> yourself a favor and ask for 500 cells to be written on the script.

> Also, FYI, there is a new method called the " SKY " method. As

opposed to

> the " FISH " method, it is in varying colors. This method is

EXCELLENT

> for picking up on various translocations that would otherwise be

> overlooked by a black and white flourescence test.

> In the end,you will do what you will, but we did not want to keep

> getting stuck with a needle. Do it right the first time and you

will be

> more happy, I think.

> SUSAN

> P.S. You will probably only be able to get insurance to pay for one

> time testing. Make it count.

>

>

>

>

>

>

> Kristy Colvin

> IMDSA President

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

> International Mosaic Down Syndrome Association

> PH:

> Toll Free: 1-888-MDS-LINK

> http://www.imdsa.org

> http://www.mosaicmoments.today.com

>

>

>

[Guest guest]

You mean the " lab results " ? Such a pity. I would change labs.

P.S> You can ask for a karyotype picture to be provided to you.-

-- In MosaicDS , Shaffer

wrote:

>

> I really dont know for sure My Dr was perplexed and said we could

force the issue but it would probably not be done right because the

attitude was already formed that the test wouldnt change. I knew

everything went to easy. lol I called my peditrician one day had the

lab orders the next day so yeah it was to easy.

>

>

>

>

>

>

> Subject: Re: Another Testing Question

> To: MosaicDS

> Date: Monday, September 22, 2008, 9:21 PM

>

>

>

>

>

>

> Isn't that illegal to decline to do the test or " throw out the

blood "

> once they have drawn the sample? That does not sound right. I do

not

> doubt it happened, but OMG.

>

>

> > > I talked to my husband and after reading your responses

> > from my first

> > > post, we decided to test our little girl. No matter what

> > > recommendations or suggestions are given to us by doctors. I

need

> > to

> > > know and thank you and Kristy for your personal

> experiences.

> > Now

> > > my new questions are what test should I order aside from a FISH

> > study.

> > > How many cells need to be tested? What type of tests have you

all

> > done

> > > to find out the definite diagnoses? What type of tissue was

> > examined

> > > aside from blood? Is it going to hurt her if I decide to do a

> skin

> > > test? I hope to hear from anyone that is going through or has

> gone

> > > through this and post the names of the tests or tell about

their

> > > experience. Again if anyone has the name of a dr. I can see in

> the

> > > Dallas, Tx. area feel free to give me a name and number.Thank

you

> > >

> > >

> > >

> > >

> > >

> > >

> > > Kristy Colvin

> > > IMDSA President

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

> > > International Mosaic Down Syndrome Association

> > > PH:

> > > Toll Free: 1-888-MDS-LINK

> > > http://www.imdsa. org

> > > http://www.mosaicmo ments.today. com

> > >

> > >

> > >

[Guest guest]

So I was not able to read all of these posts so maybe I missed some

info but why would I need to get the test done? Isn't that how they

diagnosed the child in the first place? We had some blood taken I

believe and they tested on that and found 20% of Hadley (my

daughter's cells) had trisomy 21. So would I need to have it

redone? Just wanted to make sure I wasn't missing anything.

As always this is fabulous information for the ignorant people like

myself

Nanci

> > I have to disagree with Kristy. I order to get an

> accurate result, you

> > MUST test at least 500 cells. Otherwise, it can be missed. 500

> cells

> > will tell youwithin 99% confidence limits. This information

comes

> from

> > Dr. Flannery AND Dr. Kulyhara at Medical College of

Georgia.

> Do

> > yourself a favor and ask for 500 cells to be written on the

script.

> > Also, FYI, there is a new method called the " SKY " method. As

> opposed to

> > the " FISH " method, it is in varying colors. This method is

> EXCELLENT

> > for picking up on various translocations that would otherwise

be

> > overlooked by a black and white flourescence test.

> > In the end,you will do what you will, but we did not want to

keep

> > getting stuck with a needle. Do it right the first time and you

> will be

> > more happy, I think.

> > SUSAN

> > P.S. You will probably only be able to get insurance to pay for

one

> > time testing. Make it count.

> >

> >

> >

> >

> >

> >

> > Kristy Colvin

> > IMDSA President

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

> > International Mosaic Down Syndrome Association

> > PH:

> > Toll Free: 1-888-MDS-LINK

> > http://www.imdsa.org

> > http://www.mosaicmoments.today.com

> >

> >

> >