Re: Re: mosaic Down syndrome

[Guest guest]

Hi Kristy,

Thanks for the explination of MDS. Its facinating stuff.

But I would also like to point out that in DS and MDS there are wide range of abilities, and exceptions to every rule you can possibly think of.

What I want to be sure everyone knows, is that if your child is DS and not MDS, it does not mean they are going to be lower functioning, or that you need to lower expectations because they are not mosiac. Within both those are wide ranges and they do overlap. All of our children, with our assistance, will be the best that they can be, including our chromosonally deficient children (otherwise referred to as the "normal" kids).

Whether that erroneous split in the genes happened at the first split (making it DS) or somewhere after that (making it MDS) does not really matter in the grand scheme of things. We are all in the DS boat, and we can all learn from each other, help each other, and lift each other up.

Thanks again Kristy for the great explianation. Great to have you aboard our "something extra" group.

Hugs,

RomeroDSAA Treasurer

jules@... Down Syndrome Association of Acadiana Together...families dream, hope and soar

-- Re: mosaic Down syndrome

I am sorry that I have not been following this thread. I have been very busy these past weeks and have just skimmed through stuff.I want to take the time to explain a little about MDS to you.For those of you who do not know me, I am the co-founder and president of International Mosaic Down Syndrome Association and the leading expert on MDS. I recently gave a workshop on MDS at the NDSC convention. If you would like to hear my workshop, you can purchase a CD from NDSC.When a person has MDS there are two cells lines in the body. One cell line has the extra chromosomes that cause trisomy 21 or translocation. The other cell line does not have the extra chromosomes and is typical. Each person has a different percentage of cells in different areas of the body. Where the affected cells are located determines what areas of development and health will be affected. To test for MDS is easy (although some doctors will tell you it is not)Testing for MDS is similar to testing for T21 or translocation. A blood test is administered, but it is recommended that more cells are studied. Typically when Ds is looked at in blood the lab will take 20 cells. It is recommended that 50 cells are looked at instead, in order to see the typical cells. In addition, a person with MDS may have affected cells only in the skin. So, it is recommended that a skin test be done. Depending on your area, skin tests can be done in two different ways. Either they will take a small tooth brush and brush the inside of the cheek for a sample, or they will take a small piece of skin from the body. Then they will be able to test these cells for MDS.The average age for a person to be diagnosed with MDS is between 1 and 3 years old. The reason for a late diagnosis is usually because of the lack of or mild physical characteristics and less of a delay in milestones. Although, since IMDSA's conception, more and more are getting diagnosed at birth.Very often a person is diagnosed with T21 when in reality they actually have MDS. There are many reasons for this. First, they are clinically diagnosed. This means that a blood test was never taken and the doctor just looks at the physical characteristics and decides that they person has T21. Second, enough blood cells are not taken or a skin test is not done. When this happens they only see the T21 cells and not the typical cells. Third, a doctor does know that there are typical cells present, but instead of explaining MDS, it is easier to explain T21, so they just leave out the information.Often a person with MDS is born with more physical characteristics and as they grow the characteristics begin to disappear. The reason this happens is because the typical cells begin to rejuvinate and the percentage of affected cells begin to change. So, when this happens the physical characteristics can change.On average, a person with MDS crawls and sits unassisted about 2 months before a person with Ds. But let me stress that this is an average and not necessarily the absolute.I would suggest that if your child has very mild features, was diagnosed months or years after birth, or crawled and/or sat up earlier than the average person with Down syndrome, you speak with your doctor about seeing the karyotype that was done to determine Ds and ask about having more blood cells (50) and skin cells tested to be sure that your child does not have MDS.If you would like more information on MDS you can visit our website www.imdsa.com I hope some of this info has helpedKristy ColvinIMDSA PresidentMom to Arron 24, 21, Tim 20MDS, Stevan 19 and Garrett 10

[Guest guest]

I TOTALLY agree.

I so wish I would have gotten to go to Atlanta....... Grrrrrrr . I was scheduled to go with other ladies from our Association, but there was this evil virus that had other intentions. It won. But you were one of the folks I wanted to seek out and finally get to meet. Ah well.... Next year..

Hugs,

-- Re: mosaic Down syndrome> > > I am sorry that I have not been following this thread. I have been > very busy these past weeks and have just skimmed through stuff.> > I want to take the time to explain a little about MDS to you.> > For those of you who do not know me, I am the co-founder and president > of International Mosaic Down Syndrome Association and the leading > expert on MDS. I recently gave a workshop on MDS at the NDSC > convention. If you would like to hear my workshop, you can purchase a > CD from NDSC.> > When a person has MDS there are two cells lines in the body. One cell > line has the extra chromosomes that cause trisomy 21 or translocation. > The other cell line does not have the extra chromosomes and is > typical. Each person has a different percentage of cells in different > areas of the body. Where the affected cells are located determines > what areas of development and health will be affected. > > To test for MDS is easy (although some doctors will tell you it is not)> Testing for MDS is similar to testing for T21 or translocation. A > blood test is administered, but it is recommended that more cells are > studied. Typically when Ds is looked at in blood the lab will take 20 > cells. It is recommended that 50 cells are looked at instead, in order > to see the typical cells. In addition, a person with MDS may have > affected cells only in the skin. So, it is recommended that a skin > test be done. Depending on your area, skin tests can be done in two > different ways. Either they will take a small tooth brush and brush > the inside of the cheek for a sample, or they will take a small piece > of skin from the body. Then they will be able to test these cells for > MDS.> > The average age for a person to be diagnosed with MDS is between 1 and > 3 years old. The reason for a late diagnosis is usually because of the > lack of or mild physical characteristics and less of a delay in > milestones. Although, since IMDSA's conception, more and more are > getting diagnosed at birth.> > Very often a person is diagnosed with T21 when in reality they > actually have MDS. There are many reasons for this. First, they are > clinically diagnosed. This means that a blood test was never taken and > the doctor just looks at the physical characteristics and decides that > they person has T21. Second, enough blood cells are not taken or a > skin test is not done. When this happens they only see the T21 cells > and not the typical cells. Third, a doctor does know that there are > typical cells present, but instead of explaining MDS, it is easier to > explain T21, so they just leave out the information.> > Often a person with MDS is born with more physical characteristics and > as they grow the characteristics begin to disappear. The reason this > happens is because the typical cells begin to rejuvinate and the > percentage of affected cells begin to change. So, when this happens > the physical characteristics can change.> > On average, a person with MDS crawls and sits unassisted about 2 > months before a person with Ds. But let me stress that this is an > average and not necessarily the absolute.> > I would suggest that if your child has very mild features, was > diagnosed months or years after birth, or crawled and/or sat up > earlier than the average person with Down syndrome, you speak with > your doctor about seeing the karyotype that was done to determine Ds > and ask about having more blood cells (50) and skin cells tested to be > sure that your child does not have MDS.> > If you would like more information on MDS you can visit our website > www.imdsa.com > > I hope some of this info has helped> Kristy Colvin> IMDSA President> Mom to Arron 24, 21, Tim 20MDS, Stevan 19 and Garrett 10>

[Guest guest]

In a message dated 8/31/2006 8:24:07 P.M. Mountain Standard Time, lmlenke@... writes:

I would suggest that if your child has very mild features, was > diagnosed months or years after birth, or crawled and/or sat up > earlier than the average person with Down syndrome, you speak with > your doctor about seeing the karyotype that was done to determine Ds > and ask about having more blood cells (50) and skin cells tested to be > sure that your child does not have MDS.>

This is the part I don't quite understand. If your child is already diagnosed with DS, why would it be important to re-test for MDS? Presumably we all know each child is different and that being DS or MDS does not predict the future, as there is a lot of overlap. And therapies will all be tailored to your child's individual abilities anyway...So, what difference does it make other than semantic? (I'm really just wondering...I'm not criticizing)

Janis

[Guest guest]

And I don't know if this is true or not, but if your child is diagnosed with MDS then he/she will not qualify for SSI. This may not matter now, but it will when they are older. Does anybody know if this is true?

Cheryl

Re: Re: mosaic Down syndrome

In a message dated 8/31/2006 8:24:07 P.M. Mountain Standard Time, lmlenkehotmail writes:

I would suggest that if your child has very mild features, was > diagnosed months or years after birth, or crawled and/or sat up > earlier than the average person with Down syndrome, you speak with > your doctor about seeing the karyotype that was done to determine Ds > and ask about having more blood cells (50) and skin cells tested to be > sure that your child does not have MDS.>

This is the part I don't quite understand. If your child is already diagnosed with DS, why would it be important to re-test for MDS? Presumably we all know each child is different and that being DS or MDS does not predict the future, as there is a lot of overlap. And therapies will all be tailored to your child's individual abilities anyway...So, what difference does it make other than semantic? (I'm really just wondering...I'm not criticizing)

Janis

[Guest guest]

Hi, Kristy,

Yeah, I compared my son, Casey, to those dear angels, and I could see that Casey has a mild condition. Now he is 3.8 years old. Is it too late to test him?? Thanks, and I appreciate your effort to describe Mosaic DS.

kk

-- Re: mosaic Down syndrome

I am sorry that I have not been following this thread. I have been very busy these past weeks and have just skimmed through stuff.I want to take the time to explain a little about MDS to you.For those of you who do not know me, I am the co-founder and president of International Mosaic Down Syndrome Association and the leading expert on MDS. I recently gave a workshop on MDS at the NDSC convention. If you would like to hear my workshop, you can purchase a CD from NDSC.When a person has MDS there are two cells lines in the body. One cell line has the extra chromosomes that cause trisomy 21 or translocation. The other cell line does not have the extra chromosomes and is typical. Each person has a different percentage of cells in different areas of the body. Where the affected cells are located determines what areas of development and health will be affected. To test for MDS is easy (although some doctors will tell you it is not)Testing for MDS is similar to testing for T21 or translocation. A blood test is administered, but it is recommended that more cells are studied. Typically when Ds is looked at in blood the lab will take 20 cells. It is recommended that 50 cells are looked at instead, in order to see the typical cells. In addition, a person with MDS may have affected cells only in the skin. So, it is recommended that a skin test be done. Depending on your area, skin tests can be done in two different ways. Either they will take a small tooth brush and brush the inside of the cheek for a sample, or they will take a small piece of skin from the body. Then they will be able to test these cells for MDS.The average age for a person to be diagnosed with MDS is between 1 and 3 years old. The reason for a late diagnosis is usually because of the lack of or mild physical characteristics and less of a delay in milestones. Although, since IMDSA's conception, more and more are getting diagnosed at birth.Very often a person is diagnosed with T21 when in reality they actually have MDS. There are many reasons for this. First, they are clinically diagnosed. This means that a blood test was never taken and the doctor just looks at the physical characteristics and decides that they person has T21. Second, enough blood cells are not taken or a skin test is not done. When this happens they only see the T21 cells and not the typical cells. Third, a doctor does know that there are typical cells present, but instead of explaining MDS, it is easier to explain T21, so they just leave out the information.Often a person with MDS is born with more physical characteristics and as they grow the characteristics begin to disappear. The reason this happens is because the typical cells begin to rejuvinate and the percentage of affected cells begin to change. So, when this happens the physical characteristics can change.On average, a person with MDS crawls and sits unassisted about 2 months before a person with Ds. But let me stress that this is an average and not necessarily the absolute.I would suggest that if your child has very mild features, was diagnosed months or years after birth, or crawled and/or sat up earlier than the average person with Down syndrome, you speak with your doctor about seeing the karyotype that was done to determine Ds and ask about having more blood cells (50) and skin cells tested to be sure that your child does not have MDS.If you would like more information on MDS you can visit our website www.imdsa.com I hope some of this info has helpedKristy ColvinIMDSA PresidentMom to Arron 24, 21, Tim 20MDS, Stevan 19 and Garrett 10

[Guest guest]

umm, I was told Casey would perform like 2.5 to 3 years old. Again, if I were to compare him to my 23 months old daughter, daughter perform better than he does. Casey's physical characteristics, ah, let me show you his picture......okay, i will ask for it today ....his appt is at three pm. kk

-- Re: mosaic Down syndrome> > > I am sorry that I have not been following this thread. I have been > very busy these past weeks and have just skimmed through stuff.> > I want to take the time to explain a little about MDS to you.> > For those of you who do not know me, I am the co-founder and president > of International Mosaic Down Syndrome Association and the leading > expert on MDS. I recently gave a workshop on MDS at the NDSC > convention. If you would like to hear my workshop, you can purchase a > CD from NDSC.> > When a person has MDS there are two cells lines in the body. One cell > line has the extra chromosomes that cause trisomy 21 or translocation. > The other cell line does not have the extra chromosomes and is > typical. Each person has a different percentage of cells in different > areas of the body. Where the affected cells are located determines > what areas of development and health will be affected. > > To test for MDS is easy (although some doctors will tell you it is not)> Testing for MDS is similar to testing for T21 or translocation. A > blood test is administered, but it is recommended that more cells are > studied. Typically when Ds is looked at in blood the lab will take 20 > cells. It is recommended that 50 cells are looked at instead, in order > to see the typical cells. In addition, a person with MDS may have > affected cells only in the skin. So, it is recommended that a skin > test be done. Depending on your area, skin tests can be done in two > different ways. Either they will take a small tooth brush and brush > the inside of the cheek for a sample, or they will take a small piece > of skin from the body. Then they will be able to test these cells for > MDS.> > The average age for a person to be diagnosed with MDS is between 1 and > 3 years old. The reason for a late diagnosis is usually because of the > lack of or mild physical characteristics and less of a delay in > milestones. Although, since IMDSA's conception, more and more are > getting diagnosed at birth.> > Very often a person is diagnosed with T21 when in reality they > actually have MDS. There are many reasons for this. First, they are > clinically diagnosed. This means that a blood test was never taken and > the doctor just looks at the physical characteristics and decides that > they person has T21. Second, enough blood cells are not taken or a > skin test is not done. When this happens they only see the T21 cells > and not the typical cells. Third, a doctor does know that there are > typical cells present, but instead of explaining MDS, it is easier to > explain T21, so they just leave out the information.> > Often a person with MDS is born with more physical characteristics and > as they grow the characteristics begin to disappear. The reason this > happens is because the typical cells begin to rejuvinate and the > percentage of affected cells begin to change. So, when this happens > the physical characteristics can change.> > On average, a person with MDS crawls and sits unassisted about 2 > months before a person with Ds. But let me stress that this is an > average and not necessarily the absolute.> > I would suggest that if your child has very mild features, was > diagnosed months or years after birth, or crawled and/or sat up > earlier than the average person with Down syndrome, you speak with > your doctor about seeing the karyotype that was done to determine Ds > and ask about having more blood cells (50) and skin cells tested to be > sure that your child does not have MDS.> > If you would like more information on MDS you can visit our website > www.imdsa.com > > I hope some of this info has helped> Kristy Colvin> IMDSA President> Mom to Arron 24, 21, Tim 20MDS, Stevan 19 and Garrett 10>

[Guest guest]

Not True because Andy is MDS and he gets SSI and SS. For one thing, we were never asked what type he is and that still wouldn't make a difference because he had to have a Docotors statement in order to receive SSI & SS. Trish Mom to Andy who is almost 35C ANDERSON <andersonck@...> wrote: And I don't know if this is true or not, but if your child is diagnosed with MDS then he/she will not

qualify for SSI. This may not matter now, but it will when they are older. Does anybody know if this is true? Cheryl Re: Re: mosaic Down syndrome In a message dated 8/31/2006

8:24:07 P.M. Mountain Standard Time, lmlenkehotmail writes: I would suggest that if your child has very mild features, was > diagnosed months or years after birth, or crawled and/or sat up > earlier than the average person with Down syndrome, you speak with > your doctor about seeing the karyotype that was done to determine Ds > and ask about having more blood cells (50) and skin cells tested to be > sure that your child does not have MDS.> This is the part I don't quite understand. If your child is already diagnosed with DS, why would it be important to re-test for MDS? Presumably we all know each child is different and that being DS or MDS does not

predict the future, as there is a lot of overlap. And therapies will all be tailored to your child's individual abilities anyway...So, what difference does it make other than semantic? (I'm really just wondering...I'm not criticizing) Janis

[Guest guest]

Kristy,

Thanks for the information!

Cheryl

Re: mosaic Down syndrome

Cheryl

A person with T21 automatically qualifies for SSI, but a person with MDS qualifies on an individual basis. So, it depends on the child's abilities and that is what SSI looks at. If they are already on SSI the Social Security office will not take the SSI away (the way I understand it)

And, if they are on SSI, it will not be taken away when they become an adult unless they are working and making enough money. You do have to go through an evaluation process, but it is just a formality because the person still has the extra chromosomes that disabled them in the first place.

Kristy

And I don't know if this is true or not, but if your child is diagnosed with MDS then he/she will not qualify for SSI. This may not matter now, but it will when they are older. Does anybody know if this is true?

Cheryl

[Guest guest]

Hi Kristy. I love your sight and pictures of your family. Yes, Andy has been on SSI since he was 17 and lived in a Group Home. I have stated before that we would not allow him to live in a Group Home again after all the grief we were put through. Andy does so much better and is much healthier living at home. He is also enjoying freedom he really didn't have in the GH. His SSI was never based on our income since he is an adult. His is based on his disability. I know parents can receive SSI for their young children but we never did that when Andy was little. We didn't know about it until he was 17 and living in a GH. We just always took care of our Andy our selves just like we do now ,and we do not take any payment for it. His money is his and he loves to spend it! I viewed your Blog on the person who rudely used the mean ways he

did and called it entertainment. I left my thoughts on it but I didn't want to leave my name. You know it now : ) God Bless and have a wonderful weekend, Trish, Andy's Mom who Andy says has DS too! Oh, he says at times that some of his family members have DS too. What a character, we should be so fortunate! Ps. 46:10 "Be still and know that I Am God....." my life verseKristy Colvin <imdsapresident@...> wrote: More than likely the reason Andy gets SSI is because he has been on it for a

while. Back in 2000 they passed a law that said people with Ds automatically qualified for SSI (depending on parents finances) but people with MDS would have to qualify under special guidelines because they have a better chance of not having delays. Kristy Not True because Andy is MDS and he gets SSI and SS. For one thing, we were never asked what type he is and that still wouldn't make a difference because he had to have a Docotors statement in order to receive SSI & SS. Trish Mom to Andy who is almost 35

[Guest guest]

Oops, sorry Kristy, I got you mixed up with Katrina in Canada! Well, she has a lovely family and I didn't see yours. Sorry about the mixup! Trish, Mama to Andy almost 35 with MDSKristy Colvin <imdsapresident@...> wrote: More than likely the reason Andy gets SSI is because he has been on it for a while. Back in 2000 they passed a law that said people with Ds automatically qualified for SSI (depending on parents finances) but people with MDS would have to qualify under

special guidelines because they have a better chance of not having delays. Kristy Not True because Andy is MDS and he gets SSI and SS. For one thing, we were never asked what type he is and that still wouldn't make a difference because he had to have a Docotors statement in order to receive SSI & SS. Trish Mom to Andy who is almost 35