Re: Question about blood tests for MDS %

[Guest guest]

....

agreed on the explanation of mosaicism..........its what I was attempting to

say too!

My son's blood showed 50% affected.................and he really struggles!!

go figure!!

Angel

In a message dated 3/4/2008 10:52:13 P.M. Mountain Standard Time,

lifeisgood@... writes:

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 Mosaicâ€

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

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

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

*******************************************************

Purchase your MDS awareness bracelet today! http://www.imdsa.com/bracelets

**************************************************************************

Contact IMDSA Today at:

IMDSA~PO Box 1052~lin,TX~77856~USA~1-~1-888-MDS-LINK

*********************************************************************

Share your story today! http://www.mosaicdownsyndrome.com

*********************************************************

To unsubscribe from this list, send e-mail to:

MosaicDS-unsubscribeegroups

*************************************************

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*************************************************

[Guest guest]

I also want to throw in.................................. I think it's one

of the harder things we do as a GROUP, is have to inform a NEW PARENT that we

have no explanation for what their % means.............that it basically means

nothing............................. when it was their glimmer of hope!

I think we should be careful in how we approach it, cause most parents are

in that " sad " time when they ask this question....

Angel

In a message dated 3/5/2008 8:22:44 A.M. Mountain Standard Time,

LDSAngel77@... writes:

....

agreed on the explanation of mosaicism..........its what I was attempting

to

say too!

My son's blood showed 50% affected.................and he really

struggles!!

go figure!!

Angel

In a message dated 3/4/2008 10:52:13 P.M. Mountain Standard Time,

lifeisgood@... writes:

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 Mosaicâ€

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

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

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

*******************************************************

Purchase your MDS awareness bracelet today! http://www.imdsa.com/bracelets

**************************************************************************

Contact IMDSA Today at:

IMDSA~PO Box 1052~lin,TX~77856~USA~1-~1-888-MDS-LINK

*********************************************************************

Share your story today! http://www.mosaicdownsyndrome.com

*********************************************************

To unsubscribe from this list, send e-mail to:

MosaicDS-unsubscribeegroups

*************************************************

To visit the e-group website go to:

http://groups.yahoo.com/group/MosaicDS/

*************************************************

[Guest guest]

Hi , I am certainly not an expert on this but I will tell you what I have

been told. There is such a wide range of development with ds and mds. Two

children just do not seem to do the same. One child and have ds with 100% of

cells and function at a very high level or not. I was also told about mds that

A doctor told me that with mds they would have to biopsy each section of the

body to get a true answer as what parts have been affected or not. For some

reason it seems that our children some do very well and other are a little bit

more delayed in different areas. I guess it is the same as typical children

some do well in reading and some in math, some are emotionally mature and some

immature. The bottom line is nobody can tell what the potential of any child is

going to be with or with out mds or ds or typical. I just lay my trust in God

that he has a plan and I am just here to oversee things. It is just my opinion.

Sue

Isabella 14 months

Re: Question about blood tests for MDS %

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]

MDS happens when you have a percentage of cells that have the extra 21st

chromosome and the remaining cells are unaffected. It wouldn't matter if it were

96% or 16% it is still two cell lines with a different set of chromosomes, so it

is still mosaicism.

Hope this helps!

Kristy

Bolduc wrote:

How does your son have MDS when he is 96% DS? Am I not understanding?

My daughter is DS tho we think differently. Thru amino 20 cells were checked and

all came back DS. When she had her open heart surgery, we asked for her to be

retested during her surgery, and to check 100 cells. Well they only checked 30

cells and it came back as all 30 cells were DS. I still get asked if she is MDS.

Alot of that comes from therapists who work with special needs every day. My

daughter is very high functioning and is right on target for her age. Not sure I

will ever get her retested but might one day.

Thanks

Mom to Zephany, 21 months, DS and to

Jezeca, 5.8 years, Trisomy 10q dup/5p del

Re: Question about blood tests for MDS %

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]

Hi

You are right. The percentage does not tell you about the outcome because we

do not know where that pecentage is located in the body. In our research, we

found one person who had MDS, but all the affected cells were only in the heart.

No other part of the body was affected. They had a heart problem and that was

it!

I do understand that saddness. I think all of us have felt that way at some

point. I think it stems from our worry that our kids will be unhappy because

they have MDS. It is in our parental instincts to protect our children and

often, no matter what we read and hear, we feel as though somehow we have caused

our kids to have MDS. So, deep down we hold that guilt inside of us and continue

to worry about all the things we can't see because we don't know what tomorrow

will bring.

When Tim was first diagnosed, a social worker from the early intervention

school interviewed me. In her questions, she asked me what I expected for Tim's

future. I thought long and hard about that. And, I told her that I didn't know

what any of my boy's futures would be, but whatever they chose to do I would

make sure they were the best they could be at it!

I think many parents do not realize that you never know what the future will

hold for any of your children. It doesn't matter if they have developmental

delays or not. My eldest son has a genuis level IQ. But he didn't finish high

school because it bored him to tears! So, unfortunately, his genuis is not being

put to good works.

When Tim was 14 we told him he had MDS. This was a very difficult time in our

lives because we worried so much about how he would take the news. When we did

finally tell him, he wasn't sad, angry, upset, worried or any of those negative

feelings you can think of. In fact, his first response was " Cool! " To him, he

had something that none of us had! He was unique and he liked that idea! lol He

says that he is glad he has MDS because it makes him unique and allows him the

creativity that he has to write and do all the other creative things he does. He

has a fantastic imagination and loves to use that imagination in his writings.

He is perfectly happy and doesn't say he wishes he didn't have MDS. Tim said

that he thought of having MDS like being an XMan. He is unique and that wasn't a

bad thing. In our Fall newsletter said the same thing (although she said

she was an X Woman lol)

I think the most important thing that we can do as parents as treat our

children just like we would any other child and expect the very best from them!

Kristy

The Cronauers wrote:

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]

I can back up what Kristy says about Tim having a " creative " side and sometimes

it doesn't come out in writing, he says it! I met Tim (and Kristy, Garrett and

Mimi last summer at the conference in Richmond) Tim tried to tell me this

horrible story about Kristy " beating " him, and if it wasn't for the twinkle in

his eye, I would have believed it!

So if any of you get the chance to meet Tim, watch out!!!! LOL

Becky

Warmest Regards

Team BRATS

http://teambrats08.chipin.com/team-brats-becky-rowe-austin-trey-smith

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Re: Re: Question about blood tests for MDS %

Hi

You are right. The percentage does not tell you about the outcome because we do

not know where that pecentage is located in the body. In our research, we found

one person who had MDS, but all the affected cells were only in the heart. No

other part of the body was affected. They had a heart problem and that was it!

I do understand that saddness. I think all of us have felt that way at some

point. I think it stems from our worry that our kids will be unhappy because

they have MDS. It is in our parental instincts to protect our children and

often, no matter what we read and hear, we feel as though somehow we have caused

our kids to have MDS. So, deep down we hold that guilt inside of us and continue

to worry about all the things we can't see because we don't know what tomorrow

will bring.

When Tim was first diagnosed, a social worker from the early intervention school

interviewed me. In her questions, she asked me what I expected for Tim's future.

I thought long and hard about that. And, I told her that I didn't know what any

of my boy's futures would be, but whatever they chose to do I would make sure

they were the best they could be at it!

I think many parents do not realize that you never know what the future will

hold for any of your children. It doesn't matter if they have developmental

delays or not. My eldest son has a genuis level IQ. But he didn't finish high

school because it bored him to tears! So, unfortunately, his genuis is not being

put to good works.

When Tim was 14 we told him he had MDS. This was a very difficult time in our

lives because we worried so much about how he would take the news. When we did

finally tell him, he wasn't sad, angry, upset, worried or any of those negative

feelings you can think of. In fact, his first response was " Cool! " To him, he

had something that none of us had! He was unique and he liked that idea! lol He

says that he is glad he has MDS because it makes him unique and allows him the

creativity that he has to write and do all the other creative things he does. He

has a fantastic imagination and loves to use that imagination in his writings.

He is perfectly happy and doesn't say he wishes he didn't have MDS. Tim said

that he thought of having MDS like being an XMan. He is unique and that wasn't a

bad thing. In our Fall newsletter said the same thing (although she said

she was an X Woman lol)

I think the most important thing that we can do as parents as treat our children

just like we would any other child and expect the very best from them!

Kristy

The Cronauers <lifeisgood@thecrona uers.com> wrote:

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]

LOL Becky that is Horrible! I didn't even know he told you that! For those who

meet us personally, you will know that that is the furthest from the truth that

you could get! However...perhaps a beating is in order! LOL just kidding!

Kristy

Becky Rowe wrote:

I can back up what Kristy says about Tim having a " creative " side and

sometimes it doesn't come out in writing, he says it! I met Tim (and Kristy,

Garrett and Mimi last summer at the conference in Richmond) Tim tried to tell me

this horrible story about Kristy " beating " him, and if it wasn't for the twinkle

in his eye, I would have believed it!

So if any of you get the chance to meet Tim, watch out!!!! LOL

Becky

Warmest Regards

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Re: Re: Question about blood tests for MDS %

Hi

You are right. The percentage does not tell you about the outcome because we do

not know where that pecentage is located in the body. In our research, we found

one person who had MDS, but all the affected cells were only in the heart. No

other part of the body was affected. They had a heart problem and that was it!

I do understand that saddness. I think all of us have felt that way at some

point. I think it stems from our worry that our kids will be unhappy because

they have MDS. It is in our parental instincts to protect our children and

often, no matter what we read and hear, we feel as though somehow we have caused

our kids to have MDS. So, deep down we hold that guilt inside of us and continue

to worry about all the things we can't see because we don't know what tomorrow

will bring.

When Tim was first diagnosed, a social worker from the early intervention school

interviewed me. In her questions, she asked me what I expected for Tim's future.

I thought long and hard about that. And, I told her that I didn't know what any

of my boy's futures would be, but whatever they chose to do I would make sure

they were the best they could be at it!

I think many parents do not realize that you never know what the future will

hold for any of your children. It doesn't matter if they have developmental

delays or not. My eldest son has a genuis level IQ. But he didn't finish high

school because it bored him to tears! So, unfortunately, his genuis is not being

put to good works.

When Tim was 14 we told him he had MDS. This was a very difficult time in our

lives because we worried so much about how he would take the news. When we did

finally tell him, he wasn't sad, angry, upset, worried or any of those negative

feelings you can think of. In fact, his first response was " Cool! " To him, he

had something that none of us had! He was unique and he liked that idea! lol He

says that he is glad he has MDS because it makes him unique and allows him the

creativity that he has to write and do all the other creative things he does. He

has a fantastic imagination and loves to use that imagination in his writings.

He is perfectly happy and doesn't say he wishes he didn't have MDS. Tim said

that he thought of having MDS like being an XMan. He is unique and that wasn't a

bad thing. In our Fall newsletter said the same thing (although she said

she was an X Woman lol)

I think the most important thing that we can do as parents as treat our children

just like we would any other child and expect the very best from them!

Kristy

The Cronauers

wrote:

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]

Thank you Angel. You are right. There is this fine line that we just don't

totally understand yet (but are getting there with research) on if percentages

matter.

It would be logical that percentages should matter because the lower percent

you have the less affected you should be. But then, there are others whose

percentage is higher and they don't seem developmentally affected or medically

affected. It is a wait and see thing and that part of it sucks. I can say that

the majority of individuals with MDS have less delays than those with Ds. And,

the majority of individuals with MDS do go on to live independently and have

families of their own. But, each person is an individual and each opportunity

and experiences are different. So, again, that is why it is a " wait and see "

kind of thing.

There is never a fine line or a definitive when it comes to MDS. That is why

everyone is so wonderfully unique!

Kristy

LDSAngel77@... wrote:

I also want to throw in.................................. I think it's

one

of the harder things we do as a GROUP, is have to inform a NEW PARENT that we

have no explanation for what their % means.............that it basically means

nothing............................. when it was their glimmer of hope!

I think we should be careful in how we approach it, cause most parents are

in that " sad " time when they ask this question....

Angel

In a message dated 3/5/2008 8:22:44 A.M. Mountain Standard Time,

LDSAngel77@... writes:

....

agreed on the explanation of mosaicism..........its what I was attempting

to

say too!

My son's blood showed 50% affected.................and he really

struggles!!

go figure!!

Angel

In a message dated 3/4/2008 10:52:13 P.M. Mountain Standard Time,

lifeisgood@... writes:

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 Mosaicâ€

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]

Kristy also pointed out to me that it is at least two cell lines in

the body; your child may have more than two different cell lines.

Mosaicism means two " or more " different cell lines in the body.

> How does your son have MDS when he is 96% DS? Am I not

understanding?

>

> My daughter is DS tho we think differently. Thru amino 20 cells

were checked and all came back DS. When she had her open heart

surgery, we asked for her to be retested during her surgery, and to

check 100 cells. Well they only checked 30 cells and it came back as

all 30 cells were DS. I still get asked if she is MDS. Alot of that

comes from therapists who work with special needs every day. My

daughter is very high functioning and is right on target for her

age. Not sure I will ever get her retested but might one day.

>

> Thanks

>

> Mom to Zephany, 21 months, DS and to

> Jezeca, 5.8 years, Trisomy 10q dup/5p del

>

> Re: Question about blood tests for MDS %

>

> 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]

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)

>

> 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)

>

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