Re: Question about blood tests for MDS %

[Guest guest]

yeah, i know. I am in the country here with this PCP. That is why i

prefer to go to my geneticist. Most doctors out here have not a

clue. It was probably a continuing education course (no doubt taught

by those who do not know anything " new " about Down Syndrome.)

Hey>>>.I just got an IDEA!!!!

Lightbulb!!!! As a nurse, perhaps I could offer an

informative " basic education " course to professionals in the area

and make some $$$$$. :0) All the while, i would be educating the

public.

Hey, i like that idea!!!

> >

> > Hi Everyone,

> >

> >

> >

> > I feel that the cell lines and their percentages are a very

> misunderstood

> > area. I've seen many people share their percentage of BLOOD

> cells and

> > correlate that percentage to hopeful outcomes for their child. I

> hear about

> > how a child has 65% typical cells and she is doing very well or

> another

> > child that has 85% normal cells and again doing very well.

> However 96% of

> > my son's BLOOD cells have Trisomy 21 and he too is doing very

> well. How do

> > you explain this?

> >

> >

> >

> > What I seem to take away from the research I have done is that

> there are

> > many CELL LINES throughout the body, BLOOD cells, BRAIN cells,

> BONE cells,

> > SKIN cells, HEART cells, etc. and the very concept of " Mosaic "

is

> that ALL

> > of these cell lines can each carry different percentages, some

> totally

> > affected or some completely unaffected….any combination. It all

> depends on

> > where the " error " or the " correction " occurred in the creation

of

> our child.

> > If for instance the zygote had 47 chromosomes, and at some point

> an error

> > occurred (actually a correction) that dropped one of the

> chromosomes, it

> > would depend on what cell lines were created before this

> occurred. Or let's

> > say, the zygote had the typical 46 chromosomes, and at some

point

> a division

> > error occurred, causing the new cell with the 47 chromosomes to

> begin

> > copying from that point forward, however quite a bit of cell

> development may

> > have already occurred with the typical number of chromosomes,

> before this

> > event took place.

> >

> >

> >

> > It can be very confusing and I often get different answers from

> different

> > professionals. I have even had Dr. Pueschel personally tell me

> that my son

> > did not have Mosaicism, because the percentage of " typical "

blood

> cells was

> > not great enough (a sentiment shared by my pediatrician) . I now

> know this

> > is completely false, and when I spoke with him at a seminar

months

> later

> > (after my research) and I explained the above scenarios, he

> seemed to

> > recant and then defer to an " it just doesn't matter that it's

> Mosaic "

> > comment. I bring this up to encourage everyone to do their own

> research.

> > The Internet has been very helpful for me. I have had several

> occasions

> > where educating myself first and then getting the professionals

> advice

> > actually got more accomplished for my son than when I went in un-

> educated.

> > This is for medical and educational situations alike!

> >

> >

> >

> > Learning a little more about all this was a major contributor to

> my husband

> > and I not pursuing any other tests after his second blood test

> confirmed the

> > Mosaic diagnosis. We initially thought it would help us " figure

> something

> > out " pertaining to our son's future, tell us what we could

> expect. We were

> > also looking for some answers to why our son has no medical

> problems, why he

> > has very few physical features and why he seems as though he may

> not be

> > cognitively disabled, especially with 96% of his BLOOD cells

> affected with

> > Trisomy 21!

> >

> >

> >

> > I cannot seem to find the answers that I am looking for! I don't

> know that

> > I will, which is extremely hard for my personality type to

> acceptJ. I

> > personally still have much sadness 3 ½ years later. Every day I

> feel so,

> > so thankful to have my son in my life AND every day I wish that

he

> did not

> > have MDS. In the end though for me, it has been my love for my

> son that has

> > gotten me through each day….another CELL line test will not help

> facilitate

> > my healing.

> >

> >

> >

> > Aloha,

> >

> >

> >

> > son to Aiden, 3 ½ w/MDS

> >

> >

> >

> >

[Guest guest]

Extremely possible that you have gonadal mosaicism yourself!!! ;0)

Another thing, the test was probably correct. Everyone has some

mosaic cells in their body somewhere. Aren't you glad you did not

abort?

" Standing for justice... "

> >

> > My daughter was diagnosed by blood test as 25% MTDS at 2

> 1/2 months

> > old. We opted for a second test (denial) and had a skin biopsy

> done 20 % MTDS.

> > This test was traumatic and left a scar. I wish we had not done

it

> but it was

> > presented as an easy painless test. The labs used by our

> Children's

> > Hospital could not do the cheek scraping like we had hoped

for.

> As you can see the

> > test results were not that much different in our case. We hope

> Rose is doing

> > well! and age 2 1/2 years old

> >

> >

> >

> >

> >

> >

> > In a message dated 3/2/2008 7:08:54 P.M. Eastern Standard

Time,

> > suejohnson524@ writes:

> >

> >

> >

> >

> > I did have more than one test. I had only found out when my

> daughter was 10

> > months old. The doctors did not even believe the test and they

> suggested

> > having another one done. The first test showed 40% mds and 100%

> triple x

> > syndrome. The second test they did, they scraped skin cells

from

> the inside of her

> > mouth and tested over 500 cells. The second test was called a

> (fish test I

> > think) it came back with 33% mds and 98% triple x. How is Rose

> doing as far as

> > the leukemia? I am praying she is doing well.

> >

> > Sue

> >

> > ----- Original Message ----

> > From: sineadkirk <_sineadkirk@_ (mailto:sineadkirk@) >

> > To: _MosaicDS@yahoogroupMosai_

(mailto:MosaicDS )

> > Sent: Sunday, March 2, 2008 1:11:25 PM

> > Subject: Question about blood tests for MDS %

> >

> > Hi Everyone,

> > Thank you for your lovely messages...it can be a bit daunting

> joining a

> > group like this but you have all been great.

> >

> > My daughter Rose (9 months old) was diagnosed with 66% MDS

when

> she was

> > around three weeks old. At that time she was being treated for

> > leukaemia and a geneticist told us that it may not be as high

as

> 66%

> > becuase of her blood disorder at that time. I don't think it is

as

> high

> > as 66% because she seems to behave like any other baby.

> >

> > I was wondering if any of you guys have had more than one test

> carried

> > out to determine the MDS percentage and what was the outcome.

Do

> you

> > think it is of any use to get another test done? Do the

results

> vary

> > much with each test?

> >

> > I'd love to hear your thoughts.... thanks.

> > Sinead ( & Rose)

> >

> > __________________________________________________________

> > Be a better friend, newshound, and

> > know-it-all with Yahoo! Mobile. Try it now.

> > _http://mobile.http://mobhttp://mobile.<Whttp://mobile.<Wht_

> > (http://mobile.yahoo.com/;_ylt=Ahu06i62sR8HDtDypao8Wcj9tAcJ)

> >

> > [Non-text portions of this message have been removed]

> >

> >

> >

> >

> >

> >

> >

> > **************It's Tax Time! Get tips, forms, and advice on AOL

> Money &

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NCID=aolprf00030000000001)

> >

> >

> > [Non-text portions of this message have been removed]

> >

>

>

>

>

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[Guest guest]

, did not have a cheek scraping because the labs used by

Children's Hospital Boston do not process that kind of sample. She had a skin

biopsy, where they numbed the skin (so she wouldn't feel pain) and then punched

a

whole in her skin and removed it. It was presented as an easy painless test.

Well she scream the whole time, when they punched the whole it didn't come off

all the way so they had to cut it with scissors. She bled a lot and bruised.

She is now left with a horrible scar the size of an eraser tip on her upper

arm. People always comment on it and ask what it is from? I would, in her

case, describe it as a traumatic event that left a scar. The fact that 's

percentages were low, ( 25% Blood, 20% Skin) does not mean she is less

affected in anyway. I would not say that anything about will EVER be

horrifying to me, but she has had her fair share of struggles and many medical

problems. She pretty much has an issue with every part of her body. This does

not take away from what a Beautiful, wonderful child she is . She has had

Open Heart Surgery, was Cyanotic at Birth on Oxygen for 3 months and was too

weak to eat due to her very low muscle tone and heart condition. She ended up

with a feeding tube and still has a G-tube at 2 1/2 years old. She struggles

with feeding issues and sensory issues every day. She has unstable hips and

cervical spine. She has Genu Valgum of her knees (knock knees) and weak ankles

which she wears braces for. Her orthopedist is kept very busy! She has a

dimple on her Spine since Birth and Has a Fatty Philum/tethered cord. She has

neurosurgery coming up (I believe in April ) to cut the fatty Philum from her

spinal cord. She sees neurology for delayed myelineation of her brain by MRI

and

Developmental Delay. She has bilateral ear tubes which are due to be

replaced this Spring for frequent ear infections. She also needs her adneoids

removed (mouth breathing/snoring/apnea when sick) She has extrobia of her eyes

and

needs to alternate eye patches to her eyes for 4 hours every day to help

strengthen them. She is also language delayed.

I'm sure I have left a few things out but it doesn't matter. That fact that

she has low percentages mean NOTHING. She could be 100% affected in her heart

etc..... We just don't really know. The percentages do not matter. Our child

will be who they are supposed to become. I happen to be Amazed by the little

girl has become. She has faced such obstacles in her two short years.

She is a Spit Fire! People are drawn to . Everyone who meets her falls

in love with her. I feel like God Gifted me to take care of this very

Special little Girl. I am sorry you misunderstood my original email to the

group.

Best of Luck!

Mom to ( 2 1/2 years old MTDS)

In a message dated 3/5/2008 12:43:37 P.M. Eastern Standard Time,

agirlnamedsuess@... writes:

Our geneticist, Dr. Flannery of MCG, states that the cheek

scraping is not sufficient for a skin test and he does not recommend

it 9because it " is " so invasive and will leave a scar) UNLESS you

are having surgery. One nice thing about the viable tissue test is

that you can painlessly test the placenta once you deliver. Just

have your script in hand before delivery.

Well, I can also say that skin cells and brain cells originate from

the same cells. So, it actually " is " good that the percentage is

less, even a little less. It does not seem with 20% cells affected

(provided they at least tested 500 cells) will be that horrifying

for your child. You are very lucky that the percentage was not

higher in the skin test. if a mere 20-cell count was done, I

encourage you to have more cells (500 at least) tested. Perhaps a

cheek swab of 1,000 cells may be helpful 9even though Doc does not

recommend).

That is very interesting that the two percentages were close in

proximity.

Kristy, do you know if this is the typical scenario (for the two

percentages to be somewhat close in range). I know they can be

vastly different, but I want " real world results " here from people

who know firsthand. :0)

--- In _MosaicDS@yahoogroupMosai_ (mailto:MosaicDS ) ,

JESSICAJEM1977@, JESS

>

> My daughter was diagnosed by blood test as 25% MTDS at 2

1/2 months

> old. We opted for a second test (denial) and had a skin biopsy

done 20 % MTDS.

> This test was traumatic and left a scar. I wish we had not done it

but it was

> presented as an easy painless test. The labs used by our

Children's

> Hospital could not do the cheek scraping like we had hoped for.

As you can see the

> test results were not that much different in our case. We hope

Rose is doing

> well! and age 2 1/2 years old

>

>

>

>

>

>

> In a message dated 3/2/2008 7:08:54 P.M. Eastern Standard Time,

> suejohnson524@ suejohnson

>

>

>

>

> I did have more than one test. I had only found out when my

daughter was 10

> months old. The doctors did not even believe the test and they

suggested

> having another one done. The first test showed 40% mds and 100%

triple x

> syndrome. The second test they did, they scraped skin cells from

the inside of her

> mouth and tested over 500 cells. The second test was called a

(fish test I

> think) it came back with 33% mds and 98% triple x. How is Rose

doing as far as

> the leukemia? I am praying she is doing well.

>

> Sue

>

> Question about blood tests for MDS %

>

> Hi Everyone,

> Thank you for your lovely messages...it can be a bit daunting

joining a

> group like this but you have all been great.

>

> My daughter Rose (9 months old) was diagnosed with 66% MDS when

she was

> around three weeks old. At that time she was being treated for

> leukaemia and a geneticist told us that it may not be as high as

66%

> becuase of her blood disorder at that time. I don't think it is as

high

> as 66% because she seems to behave like any other baby.

>

> I was wondering if any of you guys have had more than one test

carried

> out to determine the MDS percentage and what was the outcome. Do

you

> think it is of any use to get another test done? Do the results

vary

> much with each test?

>

> I'd love to hear your thoughts.... thanks.

> Sinead ( & Rose)

>

> ____________ ____ ____ ____ ____ ____

> Be a better friend, newshound, and

> know-it-all with Yahoo! Mobile. Try it now.

> __http://mobile.http://mobile.http://mo_

(http://mobile.http://mobhttp://mobile.) <_Whttp://mobile._ (whttp://mobile./)

<Wht_

> (_http://mobile.http://mobhttp://mobile.<Whttp://mobile.<Wht_

(http://mobile.yahoo.com/;_ylt=Ahu06i62sR8HDtDypao8Wcj9tAcJ) )

>

> [Non-text portions of this message have been removed]

>

>

>

>

>

>

>

> ************ ************<WBR>**It's Tax Time! Get tips, forms, and

Money &

> Finance. (_http://money.http://moneyhttp://money.<WBhttp://mo_

(http://money.aol.com/tax?NCID=aolprf00030000000001) )

>

>

> [Non-text portions of this message have been removed]

>

**************It's Tax Time! Get tips, forms, and advice on AOL Money &

Finance. (http://money.aol.com/tax?NCID=aolprf00030000000001)

[Guest guest]

I don't think I " misunderstood " your post. I am not sure, but I

think you may have misunderstood mine. I apologize for that. Judging

from your response, I talked too much without making what I was

trying to say clear in doing so.

I am sorry that your little has so many issues.

Do you know how many cells they tested with that horrible skin

biopsy?-Just curious for my own knowledge- (I refer to it as

horrible, but it sounds so terribly painful from the way you

described it. And I think that is why our geneticist did not want to

do that type of test.) They should have given you more informed

consent on that one. Knowing what it involves from your description,

I can say that we will never do that and I probably won't request it

while they are asleep for any other procedure.

What I meant to say is that with any " affected " organ by disease,

there are bound to be 100% of the cells afflicted. (Otherwise, there

would be no problem with that organ.)

I guess you did not read " all " of my many posts. (I tend to have a

comment about a lot of things, usually, but not always...especially

things I am passionate about.):0)

I would do some research on adenoid removal before you did that. All

of my children have the same issue with extra-large adenoids and

tonsils and based on info I received, I decided not to have them

removed. (Doctors had told me it was the thing to do from early

on...until one day, I met a better, more informed doctor who told me

it was a good thing I did not have them removed. One reason would

have been they would have always talked thru their nose. ~nasal

speech~)

We have language delays, but I since found out that may not be a bad

thing all around because he is reading some things. Also, it

encouraged us to start learning to be bilingual (always a good thing

in my opinion).

I did read your previous post about the scar under the arm and the

pain she had or has. Perhaps I was responding to someone else saying

something about a cheek scraping and your post was not it. I think

it was either a response to your post that I was referencing, OR it

could have been that I read so many posts that I just finally

responded here.

Sorry, i was misunderstood. I will pray for (not that " my "

prayers are special in any way) that she will be on a path to better

health. :0)

All The Best!

>

> , did not have a cheek scraping because the labs used

by

> Children's Hospital Boston do not process that kind of sample. She

had a skin

> biopsy, where they numbed the skin (so she wouldn't feel pain) and

then punched a

> whole in her skin and removed it. It was presented as an easy

painless test.

> Well she scream the whole time, when they punched the whole it

didn't come off

> all the way so they had to cut it with scissors. She bled a lot

and bruised.

> She is now left with a horrible scar the size of an eraser tip on

her upper

> arm. People always comment on it and ask what it is from? I

would, in her

> case, describe it as a traumatic event that left a scar. The fact

that 's

> percentages were low, ( 25% Blood, 20% Skin) does not mean she

is less

> affected in anyway. I would not say that anything about

will EVER be

> horrifying to me, but she has had her fair share of struggles and

many medical

> problems. She pretty much has an issue with every part of her

body. This does

> not take away from what a Beautiful, wonderful child she is . She

has had

> Open Heart Surgery, was Cyanotic at Birth on Oxygen for 3 months

and was too

> weak to eat due to her very low muscle tone and heart condition.

She ended up

> with a feeding tube and still has a G-tube at 2 1/2 years old. She

struggles

> with feeding issues and sensory issues every day. She has unstable

hips and

> cervical spine. She has Genu Valgum of her knees (knock knees) and

weak ankles

> which she wears braces for. Her orthopedist is kept very busy! She

has a

> dimple on her Spine since Birth and Has a Fatty Philum/tethered

cord. She has

> neurosurgery coming up (I believe in April ) to cut the fatty

Philum from her

> spinal cord. She sees neurology for delayed myelineation of her

brain by MRI and

> Developmental Delay. She has bilateral ear tubes which are due to

be

> replaced this Spring for frequent ear infections. She also needs

her adneoids

> removed (mouth breathing/snoring/apnea when sick) She has extrobia

of her eyes and

> needs to alternate eye patches to her eyes for 4 hours every day

to help

> strengthen them. She is also language delayed.

> I'm sure I have left a few things out but it doesn't matter. That

fact that

> she has low percentages mean NOTHING. She could be 100% affected

in her heart

> etc..... We just don't really know. The percentages do not matter.

Our child

> will be who they are supposed to become. I happen to be Amazed by

the little

> girl has become. She has faced such obstacles in her two

short years.

> She is a Spit Fire! People are drawn to . Everyone who

meets her falls

> in love with her. I feel like God Gifted me to take care of this

very

> Special little Girl. I am sorry you misunderstood my original

email to the group.

> Best of Luck!

>

> Mom to ( 2 1/2 years old MTDS)

>

>

>

> In a message dated 3/5/2008 12:43:37 P.M. Eastern Standard Time,

> agirlnamedsuess@... writes:

>

>

>

>

> Our geneticist, Dr. Flannery of MCG, states that the cheek

> scraping is not sufficient for a skin test and he does not

recommend

> it 9because it " is " so invasive and will leave a scar) UNLESS you

> are having surgery. One nice thing about the viable tissue test

is

> that you can painlessly test the placenta once you deliver. Just

> have your script in hand before delivery.

> Well, I can also say that skin cells and brain cells originate

from

> the same cells. So, it actually " is " good that the percentage is

> less, even a little less. It does not seem with 20% cells

affected

> (provided they at least tested 500 cells) will be that horrifying

> for your child. You are very lucky that the percentage was not

> higher in the skin test. if a mere 20-cell count was done, I

> encourage you to have more cells (500 at least) tested. Perhaps a

> cheek swab of 1,000 cells may be helpful 9even though Doc does

not

> recommend).

> That is very interesting that the two percentages were close in

> proximity.

> Kristy, do you know if this is the typical scenario (for the two

> percentages to be somewhat close in range). I know they can be

> vastly different, but I want " real world results " here from

people

> who know firsthand. :0)

>

>

> --- In _MosaicDS@yahoogroupMosai_

(mailto:MosaicDS ) ,

> JESSICAJEM1977@, JESS

> >

> > My daughter was diagnosed by blood test as 25% MTDS at 2

> 1/2 months

> > old. We opted for a second test (denial) and had a skin biopsy

> done 20 % MTDS.

> > This test was traumatic and left a scar. I wish we had not done

it

> but it was

> > presented as an easy painless test. The labs used by our

> Children's

> > Hospital could not do the cheek scraping like we had hoped for.

> As you can see the

> > test results were not that much different in our case. We hope

> Rose is doing

> > well! and age 2 1/2 years old

> >

> >

> >

> >

> >

> >

> > In a message dated 3/2/2008 7:08:54 P.M. Eastern Standard Time,

> > suejohnson524@ suejohnson

> >

> >

> >

> >

> > I did have more than one test. I had only found out when my

> daughter was 10

> > months old. The doctors did not even believe the test and they

> suggested

> > having another one done. The first test showed 40% mds and 100%

> triple x

> > syndrome. The second test they did, they scraped skin cells

from

> the inside of her

> > mouth and tested over 500 cells. The second test was called a

> (fish test I

> > think) it came back with 33% mds and 98% triple x. How is Rose

> doing as far as

> > the leukemia? I am praying she is doing well.

> >

> > Sue

> >

> > Question about blood tests for MDS %

> >

> > Hi Everyone,

> > Thank you for your lovely messages...it can be a bit daunting

> joining a

> > group like this but you have all been great.

> >

> > My daughter Rose (9 months old) was diagnosed with 66% MDS when

> she was

> > around three weeks old. At that time she was being treated for

> > leukaemia and a geneticist told us that it may not be as high

as

> 66%

> > becuase of her blood disorder at that time. I don't think it is

as

> high

> > as 66% because she seems to behave like any other baby.

> >

> > I was wondering if any of you guys have had more than one test

> carried

> > out to determine the MDS percentage and what was the outcome.

Do

> you

> > think it is of any use to get another test done? Do the results

> vary

> > much with each test?

> >

> > I'd love to hear your thoughts.... thanks.

> > Sinead ( & Rose)

> >

> > ____________ ____ ____ ____ ____ ____

> > Be a better friend, newshound, and

> > know-it-all with Yahoo! Mobile. Try it now.

> > __http://mobile.http://mobile.http://mo_

> (http://mobile.http://mobhttp://mobile.) <_Whttp://mobile._

(whttp://mobile./) <Wht_

> > (_http://mobile.http://mobhttp://mobile.<Whttp://mobile.<Wht_

> (http://mobile.yahoo.com/;_ylt=Ahu06i62sR8HDtDypao8Wcj9tAcJ) )

> >

> > [Non-text portions of this message have been removed]

> >

> >

> >

> >

> >

> >

> >

> > ************ ************<WBR>**It's Tax Time! Get tips, forms,

and

> Money &

> > Finance. (_http://money.http://moneyhttp://money.<WBhttp://mo_

> (http://money.aol.com/tax?NCID=aolprf00030000000001) )

> >

> >

> > [Non-text portions of this message have been removed]

> >

>

>

>

>

>

>

>

> **************It's Tax Time! Get tips, forms, and advice on AOL

Money &

> Finance. (http://money.aol.com/tax?NCID=aolprf00030000000001)

>

>

>