Re: Chromosome Test

[Guest guest]

Find a different genetics. If you live in NY in the tristate area it is very

difficult. I know I have been there! All of the local labs such as Quest

are not up on the issues of mosaicism. And forget about the FISH test I

have researched through and through there is no lab or geneticts that will

do it. I informed another mom, contact Yale New Haven or Gensyne Genetics.

They have a 800# for all of there offices nationwide. Email back if you

would like there 800#.

>

>Reply-To: MosaicDS

>To: MosaicDS

>Subject: Chromosome Test

>Date: Thu, 31 Mar 2005 17:47:03 -0500

>

>Hello Everyone

>

>I know I've been going back and forth with getting re-tested for

>DS. I've been wanting him to have another blood test so more cells can

>be analyzed and they can do a screening for Mosaicism. It's been a

>battle because the genetics counselor I've been dealing with just

>doesn't seem to want to have re-tested. Her words to me were

>'what's the point, he has it'. I think it's pure laziness. It seems to

>me that she doesn't know much about MDS, so her thing is why bother

>dealing with it. So yesterday, I called her up and said listen I want

>him re-tested and I want AT LEAST 50 cells tested and I wanted them

>screened for MDS. She said " oh that poor baby, why are you making him

>go thru that, when we know he has translocation DS " . She acted like I

>am making him get dissected. I told her it is my right. So today I

>travel to the place and she would not take his blood, she gave me the

>write up to bring him to the lab... when I read it over, she only had

>checked off the Chromosome test... nothing about cells being analyzed

>and nothing about the MDS screening. I asked if she could please write

>that down and she told me no that she is just going to have him

>re-tested. I don't understand why she is being so hard with this. This

>is my right as his mother. And forget about a skin test...she wont even

>go there with me. I'm having such a hard time with this. It's like I

>can't get another genetics counselor b/c of insurance reasons. I have

>this write up for the blood test, I'm wondering if i should just write

>on it test 50 cells and Mosaic down syndrome screening.... Is that

>normally how they do it?

>I know this isn't right, but I need to know. I need to know for my

>son's sake... I'm not hiding my head in the sand or saying he doesn't

>have DS...I just want to know the truth and want things to be accurate.

>From what I've been reading about MDS, it's like my son is a prime

>example....

>What does everyone think?

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[Guest guest]

Can you go to another geneticist?? Even if you have to travel some to do

it.... I think I'd rather deal with someone else all together.

~~ANGEL~~

Mom to:

, 12, Mosaic Down Syndrome/Hirschsprung's Disease

Lance 16, Tyler 13, 10,

Jaeda 8 and Shayne 2

[Guest guest]

Ivy,

I don't know why you are having such a problem with this geneticist. I agree

that it is your right as a mother to know what the actual diagnosis is. And,

there is Mosaic Translocation Down syndrome. When you go to the lab, tell them

that you want 50 cells tested that you suspect mosaicism. They will, more than

likely call the doctor about it, but at least you can try. I wouldn't recommend

writing on the paper, because they would see the different handwriting and it

wouldn't be in the right terms they are used to. So, just explain to the lab

that that is what YOU want done. It shouldn't matter to this other doctor how

many cells are tested! I know you are totally frustrated with this, I wish you

weren't having to go through this! Keep us updated on the situation. If they

don't test the 50 cells, you may have to go another route.

Kristy

Ivy Payne wrote:

Hello Everyone

I know I've been going back and forth with getting re-tested for

DS. I've been wanting him to have another blood test so more cells can

be analyzed and they can do a screening for Mosaicism. It's been a

battle because the genetics counselor I've been dealing with just

doesn't seem to want to have re-tested. Her words to me were

'what's the point, he has it'. I think it's pure laziness. It seems to

me that she doesn't know much about MDS, so her thing is why bother

dealing with it. So yesterday, I called her up and said listen I want

him re-tested and I want AT LEAST 50 cells tested and I wanted them

screened for MDS. She said " oh that poor baby, why are you making him

go thru that, when we know he has translocation DS " . She acted like I

am making him get dissected. I told her it is my right. So today I

travel to the place and she would not take his blood, she gave me the

write up to bring him to the lab... when I read it over, she only had

checked off the Chromosome test... nothing about cells being analyzed

and nothing about the MDS screening. I asked if she could please write

that down and she told me no that she is just going to have him

re-tested. I don't understand why she is being so hard with this. This

is my right as his mother. And forget about a skin test...she wont even

go there with me. I'm having such a hard time with this. It's like I

can't get another genetics counselor b/c of insurance reasons. I have

this write up for the blood test, I'm wondering if i should just write

on it test 50 cells and Mosaic down syndrome screening.... Is that

normally how they do it?

I know this isn't right, but I need to know. I need to know for my

son's sake... I'm not hiding my head in the sand or saying he doesn't

have DS...I just want to know the truth and want things to be accurate.

From what I've been reading about MDS, it's like my son is a prime

example....

What does everyone think?

Become a member of IMDSA today at http://www.imdsa.com

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SAVE THE DATE! JUNE 24-26,2005 HOUSTON,TX. IMDSA CONVENTION

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Contact IMDSA Today at:

IMDSA~PO Box 1052~lin,TX~77856~USA~1-

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[Guest guest]

Ivy,

My daughter has Mosaic Translocation Ds. I do not understand what this doctor's

problem is! This is your child and you have every right to know the exact

diagnosis. Is there another geneticist in partnership with your doctor that you

could see that insurance would pay for?

Mom to Trevor 12, na 8 mds and Bryson 6

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[Guest guest]

Yea I think that would be a good idea. I can't believe you have to

go through all this just to find out the truth.

a

Brannon 4 mds and le 3

> Can you go to another geneticist?? Even if you have to travel

some to do

> it.... I think I'd rather deal with someone else all together.

>

>

> ~~ANGEL~~

> Mom to:

> , 12, Mosaic Down Syndrome/Hirschsprung's Disease

> Lance 16, Tyler 13, 10,

> Jaeda 8 and Shayne 2

>

>

>

>

>

>

>

[Guest guest]

I've looked into other geneticists and can't find any that my insurance

will cover. If I can't get the 50 cells tested, I'm going to ask the

Early Intervention coordinator if she can help me out and see if there

is a geneticist that the state will pay for. When I questioned this

geneticist on Mosaic Translocation DS, she told me there was no such

thing, and I told her that I know of a website where there are children

with this and she tried to debate it with me. At this point I dont want

to debate or argue, I feel like I've been thru enough.

- with your daughter and her having Mosaic Translocation DS, how

did they come up with that determination? Did they tell u at first that

she had translocation, and then u had more cells tested? I've already

been tested to see if I'm a carrier for the Translocation DS and I'm

not. My husband was recently tested and we have to wait for the

results....we'll see.

- I would love to have the 800 numbers, as well. Thank you very much.

Thank you all for your input.

Ivy

Bultje wrote:

> Ivy,

> My daughter has Mosaic Translocation Ds. I do not understand what

> this doctor's problem is! This is your child and you have every right

> to know the exact diagnosis. Is there another geneticist in

> partnership with your doctor that you could see that insurance would

> pay for?

>

> Mom to Trevor 12, na 8 mds and Bryson 6

>

>

>

>

> ---------------------------------

> Yahoo! Messenger

> Show us what our next emoticon should look like. Join the fun.

>

>

[Guest guest]

Hi Ivy,

Here is the # 1-. The main office in our area is in Queens.

Give them your zip and they will give to the closet office. Hope this

helps.

>

>Reply-To: MosaicDS

>To: MosaicDS

>Subject: Re: Chromosome Test

>Date: Fri, 01 Apr 2005 23:11:21 -0500

>

>I've looked into other geneticists and can't find any that my insurance

>will cover. If I can't get the 50 cells tested, I'm going to ask the

>Early Intervention coordinator if she can help me out and see if there

>is a geneticist that the state will pay for. When I questioned this

>geneticist on Mosaic Translocation DS, she told me there was no such

>thing, and I told her that I know of a website where there are children

>with this and she tried to debate it with me. At this point I dont want

>to debate or argue, I feel like I've been thru enough.

> - with your daughter and her having Mosaic Translocation DS, how

>did they come up with that determination? Did they tell u at first that

>she had translocation, and then u had more cells tested? I've already

>been tested to see if I'm a carrier for the Translocation DS and I'm

>not. My husband was recently tested and we have to wait for the

>results....we'll see.

>

> - I would love to have the 800 numbers, as well. Thank you very

>much.

>

>Thank you all for your input.

>

>Ivy

>

> Bultje wrote:

>

> > Ivy,

> > My daughter has Mosaic Translocation Ds. I do not understand what

> > this doctor's problem is! This is your child and you have every right

> > to know the exact diagnosis. Is there another geneticist in

> > partnership with your doctor that you could see that insurance would

> > pay for?

> >

> > Mom to Trevor 12, na 8 mds and Bryson 6

> >

> >

> >

> >

> > ---------------------------------

> > Yahoo! Messenger

> > Show us what our next emoticon should look like. Join the fun.

> >

> >

[Guest guest]

Ivy,

Should we all write letters into this doctor stating " my child has MTDS " ? lol

You definately need a new doctor! I really do feel for you! One way or the

other, eventually you are going to get that test! Perhaps you could call Dr.

-Cook and explain to her what your problem is, maybe she will do the test

for you. I know the results for the study take almost a year, but they do have

something that says if you need immediate results, contact us. If you don't have

her information, just go to our website www.imdsa.com and you can find it there.

Good Luck!

Kristy

Ivy Payne wrote:

I've looked into other geneticists and can't find any that my insurance

will cover. If I can't get the 50 cells tested, I'm going to ask the

Early Intervention coordinator if she can help me out and see if there

is a geneticist that the state will pay for. When I questioned this

geneticist on Mosaic Translocation DS, she told me there was no such

thing, and I told her that I know of a website where there are children

with this and she tried to debate it with me. At this point I dont want

to debate or argue, I feel like I've been thru enough.

- with your daughter and her having Mosaic Translocation DS, how

did they come up with that determination? Did they tell u at first that

she had translocation, and then u had more cells tested? I've already

been tested to see if I'm a carrier for the Translocation DS and I'm

not. My husband was recently tested and we have to wait for the

results....we'll see.

- I would love to have the 800 numbers, as well. Thank you very much.

Thank you all for your input.

Ivy

Bultje wrote:

> Ivy,

> My daughter has Mosaic Translocation Ds. I do not understand what

> this doctor's problem is! This is your child and you have every right

> to know the exact diagnosis. Is there another geneticist in

> partnership with your doctor that you could see that insurance would

> pay for?

>

> Mom to Trevor 12, na 8 mds and Bryson 6

>

>

>

>

> ---------------------------------

> Yahoo! Messenger

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>

>

[Guest guest]

Ivy,

My geneticist gave a copy of na's chromosome report and showed me the

cells that were translocated and those that had the extra chromosome. The way

it was explained to me is that there are many people with translocated cells who

do not know it because the chromosomes are still balanced. Maybe they have

difficult with math or reading and this could be the reason why, but they have

no idea they have translocated cells. My husband and I both were tested and it

was negative. Basically, two things happened when na was forming...one to

cause the MDS and one to cause the translocation. I cannot believe that you are

getting the run around. My geneticist wanted us to bring na in every two

years (even though there is nothing physically wrong with her) just because MDS

is so rare. We have opted not to because we would be paying for an appointment

just so she could see na!! She was very interested in the MDS. My prayers

are with you that you find someone who is

willing to help you.

Ivy Payne wrote:

I've looked into other geneticists and can't find any that my insurance

will cover. If I can't get the 50 cells tested, I'm going to ask the

Early Intervention coordinator if she can help me out and see if there

is a geneticist that the state will pay for. When I questioned this

geneticist on Mosaic Translocation DS, she told me there was no such

thing, and I told her that I know of a website where there are children

with this and she tried to debate it with me. At this point I dont want

to debate or argue, I feel like I've been thru enough.

- with your daughter and her having Mosaic Translocation DS, how

did they come up with that determination? Did they tell u at first that

she had translocation, and then u had more cells tested? I've already

been tested to see if I'm a carrier for the Translocation DS and I'm

not. My husband was recently tested and we have to wait for the

results....we'll see.

- I would love to have the 800 numbers, as well. Thank you very much.

Thank you all for your input.

Ivy

Bultje wrote:

> Ivy,

> My daughter has Mosaic Translocation Ds. I do not understand what

> this doctor's problem is! This is your child and you have every right

> to know the exact diagnosis. Is there another geneticist in

> partnership with your doctor that you could see that insurance would

> pay for?

>

> Mom to Trevor 12, na 8 mds and Bryson 6

>

>

>

>

> ---------------------------------

> Yahoo! Messenger

> Show us what our next emoticon should look like. Join the fun.

>

>