Re: just rec'd MDS diagnosis--would like feedback/advice

[Guest guest]

Margo,

Hello! So glad you found us! My name is Angel, from CA, and I have 5

children and 1 stepson. I hope I'm not too all over the place, there was

about a

dozen things I wanted to say as I read your email!!

I was 20, when my second son was born, he wasn't diagnosed until he was

16 months old though. First and foremost I want so say Congratulations on

the impending birth of your baby!!

If the amnio is correct... my feelings are that 12% of cells are so minimal.

My son is 50%, the way it presented in him though is he has very few of the

charactaristic traits, but struggles greatly on an academic level. Socially

and behaviorally he's been a great kid overall... OH i guess I should say he's

10 yrs old now, and in a special ed 4th grade class!! This class he's been

moved to recently has been wonderful for him! After all this time, we are

making progress in reading and doing basic math!!

I don't want to give false hope, but you may have noticed i said " if the

amnio is correct " ... If i recall correctly, there have been a few of us in this

group who have had incorrect amnio's. In my case, it was with one of my

children AFTER ... I was told she had a MOSAIC deletion... approx 33%

affected

cells. They pushed for abortion, said she would fail to thrive and most

likely die before her 1st birthday, etc.... it was so grim!!! One geneticist

though would always give me hope and tell me that some of the sloughed off cells

in the amniotic fluid could be from the placenta, and not the baby... and

that must have been my case, because I had her umbilical blood drawn to be

tested as she was born...and the results came back completely " normal " . She's 7

yrs old now, absolutely nothing wrong with her.

was our 3rd child (including stepson), and I've had 3 children after

him... all of them fine, healthy children. I personally believe having siblings

helps ... he's around children who are active, who are learning...they

teach him things... when he was an infant/toddler, he saw them running and

playing, it got him up running and playing... today he can kick all their butts

at Nintendo, and Playstation!!

About going back to work... if MDS is the only issue, he or she will be so

much like any other baby, you'll forget so fast!! Unless other health issues

arise after birth, I'd imagine you could continue with your current plans!!

Like most Down's children, MDS children do have a higher risk of being born

with heart or gastrointestinal problems... but I'm sure your doctors will be

doing all kinds of ultrasounds now that you have this diagnosis to rule out

those

types of problems before the baby is born. My son has a bowel disease,

called Hirschsprung's Disease, that caused him not to be able to have a bowel

movement after birth, and he had to have a colostomy for several months. But

these things sometimes happen, and you take care of it, and pray and have faith,

and then one day, its all distant memory, seems like it happend to someone

else, not us!

I'm probably not the most eloquent speaker of the group, but I hope that you

are doing ok with this diagnosis, I know that everything will be ok!! It's a

great group of moms and dads, and we have a separate group for the children

with MDS... this might interest you also, to see how well so many of the

older children are doing!

We also have a site with our childrens pictures.... please browse through

it... it's at <A HREF= " www.photoisland.com " >www.photoisland.com</A> . The ID

is: vktphipps, and the password is :

mds There's also an album of family photos... i have a photo of all my

children there (the one in the sepia tone, old fashioned clothes) including

(in the glasses)

Please, feel free to ask us anything!!! I hope to hear more from you!!

Angel

Mom to 10 MDS

Lance, 14, Tyler 11, 8, Jaeda 7 and Shayne 11 months

[Guest guest]

I had my son Tyler when I was 25. He was diagnosed with mtds when he

was 2 ½ years old. We knew at 17 months old that there was something

different about him but my insurance would not pay for the testing

until 3 doctors requested it. (I hate HMO's.) Only 25% of his cells

have the extra chromosome. I did go back to work 10 weeks after

having him but I did not know that he has mtds at the time. He was

just like all the other kids, just a little slow with everything. He

is now 6 ½ years old and in 1st grade. We just got news last week

that he is going to public school next year in 2nd grade.

<is it unfair to the MDS child to have another baby?>

That is really up to you. At first I did not want any more children

after Tyler. He was my 2nd child, but god has a way of changing

things for you. I just had my 3rd child back in March. I had

testing done with him for my peace of mind. Every thing came back

fine. Tyler loves Shane so much I wonder why I was so worried. He

is a wonderful big brother, he is teaching Shane how to count and is

reading to him. (He is not reading a lot, he makes up a story to go

with the pictures.) I hope this helps you out a little. This is a

wonder group, you came to a great place. Lots of luck with the baby

when it comes.

Debbie (mother to Troy 8 adhd, Tyler 6 mtds and Shane 3 months old)

> My husband and I just learned yesterday that the results of our

> amnio (Im 19 wks pregnant) showed that our baby has MDS, with an

> abnormal chromosome rate of 12%. We had never heard of this form

of

> Down Syndrome before and are struggling to learn more about it. I

> would be particularly interested in hearing from parents of MDS

> children with a similar chromosomal percentage rate. Im also

> curious about continuing to work after an MDS baby is born vs

> staying at home (before the diagnosis, I had planned on taking off

> for 12 wks after the birth and then returning to work). Finally,

> since this will be our first child, and we had planned on having

> more than one, Id be interested in hearing about couples who made

> the decision to have another child after an MDS birth -- is it

> unfair to the MDS child to have another baby?

>

> Thanks!

[Guest guest]

I am not the mother of an MDS child, but I am the grandmother. My grandson

and my daughter live with me, so I do know what Adam's life has been like

since he was born. He will be one next month and the closest estimate we

have gotten is that he is about 16% effected. If you met him, you would not

know that he is any different from any other child. He has no physical

characteristics of DS other than low muscle tone which he is receiving

physical therapy for. He could sit alone at 8 months and started crawling

at 9 months which, according to his therapist, is average for a typical

child. He can clap, wave bye-bye and he is the most happy, loving little

boy I have ever seen. My daughter, who was only 19 and a single mom, was

grief stricken when she learned that Adam had MDS (when he was 4 days old),

but as time has gone on, we have learned that Adam is just this great little

boy who happens to have MDS. Of course, we don't know yet if he has any

learning disabilities but neither does the moms of all of the other one year

olds in the world. My best advice - take things one day at a time, learn

all that you can and enjoy your pregnancy.

Donna - grandmother to Adam 11 months (MDS) and Skylar 9 months

-- just rec'd MDS diagnosis--would like feedback/advice

My husband and I just learned yesterday that the results of our

amnio (Im 19 wks pregnant) showed that our baby has MDS, with an

abnormal chromosome rate of 12%. We had never heard of this form of

Down Syndrome before and are struggling to learn more about it. I

would be particularly interested in hearing from parents of MDS

children with a similar chromosomal percentage rate. Im also

curious about continuing to work after an MDS baby is born vs

staying at home (before the diagnosis, I had planned on taking off

for 12 wks after the birth and then returning to work). Finally,

since this will be our first child, and we had planned on having

more than one, Id be interested in hearing about couples who made

the decision to have another child after an MDS birth -- is it

unfair to the MDS child to have another baby?

Thanks!

[Guest guest]

Hi,

I'm glad you found our group. You will get lots of information here. My

daughter w/mds is 17 months and I have learned and grown so much

myself as a result of having her in my life. I think you're at an

advantage by learning of your baby's diagnosis before birth. You will

have time to learn much about mds while you're waiting for the little

one to arrive. I spent alot of time those first several weeks trying to

learn about mds. Looking back I would have much rather been spending

that time with my daughter. She is the most pleasant, charming and

content baby I have ever been around. I have two older children and

has been the easiest one so far. She is also very active, alert

and curious about everything. I have family and friends who honestly

think she never cries. This is far from the truth but I do know if she

cries there is a good reason because she is just normally content.

What kind of picture have your doctors painted concerning your babies

future? I hope they are optimistic. Most doctors know little to nothing

about mds and many portray a gloomy future which is far from the truth.

If your doctors are not giving you hope for a bright future I would seek

new doctors. I know there are some here who after receiving the

diagnosis prenatally contemplated terminating their pregnancy at the

urging of their medical advisors. I'm sure all of them would tell you

they are thankful they did not follow that advice.

As for having more children, in my opinion, it would benefit your child

greatly to have siblings. As for returning to work, I don't see any

reason that you should change your plans based on the mds diagnosis

unless some serious health problem arises. In this day and age it just

not possible for many families, but I do feel that it is a benefit to

any child to be able to stay home with mom for a couple of years. I

stopped working to stay home with and we have had to sacrifice

many things but it has been truly worth it. She will be in preschool

soon enough at which time I plan to go back to work.

Hope

[Guest guest]

Thanks for replying. Do you know what percentage of your daughter's

cells were abnormal?

We are still processing all the info and are trying to make up our

minds as to the best course of action. The doctor that we have

dealt with so far has been quite supportive and hasnt tried to steer

us one way or the other; it's just frustrating that so much is

unknown right now about what kind of condition our baby is in. We

are having a fetal echocardiogram done in a few days and we hope

that will give us some more info to consider.

> Hi,

> I'm glad you found our group. You will get lots of information

here. My

> daughter w/mds is 17 months and I have learned and grown so

much

> myself as a result of having her in my life. I think you're at an

> advantage by learning of your baby's diagnosis before birth. You

will

> have time to learn much about mds while you're waiting for the

little

> one to arrive. I spent alot of time those first several weeks

trying to

> learn about mds. Looking back I would have much rather been

spending

> that time with my daughter. She is the most pleasant, charming and

> content baby I have ever been around. I have two older children

and

> has been the easiest one so far. She is also very active,

alert

> and curious about everything. I have family and friends who

honestly

> think she never cries. This is far from the truth but I do know if

she

> cries there is a good reason because she is just normally content.

>

> What kind of picture have your doctors painted concerning your

babies

> future? I hope they are optimistic. Most doctors know little to

nothing

> about mds and many portray a gloomy future which is far from the

truth.

> If your doctors are not giving you hope for a bright future I

would seek

> new doctors. I know there are some here who after receiving the

> diagnosis prenatally contemplated terminating their pregnancy at

the

> urging of their medical advisors. I'm sure all of them would tell

you

> they are thankful they did not follow that advice.

>

> As for having more children, in my opinion, it would benefit your

child

> greatly to have siblings. As for returning to work, I don't see

any

> reason that you should change your plans based on the mds

diagnosis

> unless some serious health problem arises. In this day and age it

just

> not possible for many families, but I do feel that it is a benefit

to

> any child to be able to stay home with mom for a couple of years.

I

> stopped working to stay home with and we have had to

sacrifice

> many things but it has been truly worth it. She will be in

preschool

> soon enough at which time I plan to go back to work.

> Hope

[Guest guest]

Thanks so much for your kind words.

> I am not the mother of an MDS child, but I am the grandmother.

My grandson

> and my daughter live with me, so I do know what Adam's life has

been like

> since he was born. He will be one next month and the closest

estimate we

> have gotten is that he is about 16% effected. If you met him, you

would not

> know that he is any different from any other child. He has no

physical

> characteristics of DS other than low muscle tone which he is

receiving

> physical therapy for. He could sit alone at 8 months and started

crawling

> at 9 months which, according to his therapist, is average for a

typical

> child. He can clap, wave bye-bye and he is the most happy, loving

little

> boy I have ever seen. My daughter, who was only 19 and a single

mom, was

> grief stricken when she learned that Adam had MDS (when he was 4

days old),

> but as time has gone on, we have learned that Adam is just this

great little

> boy who happens to have MDS. Of course, we don't know yet if he

has any

> learning disabilities but neither does the moms of all of the

other one year

> olds in the world. My best advice - take things one day at a

time, learn

> all that you can and enjoy your pregnancy.

>

> Donna - grandmother to Adam 11 months (MDS) and Skylar 9 months

>

> -- just rec'd MDS diagnosis--would like feedback/advice

>

> My husband and I just learned yesterday that the results of our

> amnio (Im 19 wks pregnant) showed that our baby has MDS, with an

> abnormal chromosome rate of 12%. We had never heard of this form

of

> Down Syndrome before and are struggling to learn more about it. I

> would be particularly interested in hearing from parents of MDS

> children with a similar chromosomal percentage rate. Im also

> curious about continuing to work after an MDS baby is born vs

> staying at home (before the diagnosis, I had planned on taking off

> for 12 wks after the birth and then returning to work). Finally,

> since this will be our first child, and we had planned on having

> more than one, Id be interested in hearing about couples who made

> the decision to have another child after an MDS birth -- is it

> unfair to the MDS child to have another baby?

>

> Thanks!

>

>

>

>

[Guest guest]

Thanks so much for getting back to me. The MDS parents we've spoken

to thus far have all been extremely helpful.

> > My husband and I just learned yesterday that the results of our

> > amnio (Im 19 wks pregnant) showed that our baby has MDS, with an

> > abnormal chromosome rate of 12%. We had never heard of this

form

> of

> > Down Syndrome before and are struggling to learn more about it.

I

> > would be particularly interested in hearing from parents of MDS

> > children with a similar chromosomal percentage rate. Im also

> > curious about continuing to work after an MDS baby is born vs

> > staying at home (before the diagnosis, I had planned on taking

off

> > for 12 wks after the birth and then returning to work).

Finally,

> > since this will be our first child, and we had planned on having

> > more than one, Id be interested in hearing about couples who

made

> > the decision to have another child after an MDS birth -- is it

> > unfair to the MDS child to have another baby?

> >

> > Thanks!

[Guest guest]

mjfitton2k3 wrote:

> Thanks for replying. Do you know what percentage of your daughter's

> cells were abnormal?

>

My daughter's blood karotype returned about 60% affected cells but every

cell line can have a different percentage of cells affected. i.e. blood,

skin, brain, lungs etc. They can all be different percentages and you

can't just test all of those different body systems. You can do a skin

biopsy but it involves cutting away a patch of skin. I don't know of

anyone who has done this. Also a FISH test which is a simple cheek swab.

What I have read on this says that it would reveal similar results as

the skin test which some geneticists think may be the same or similar to

the cell line in the brain. I can't remember where I read this because I

have read so much. Sorry. I wouldn't get too hung up on what the

percentages are but it is encouraging that your percentage seems very

low. There just hasn't been alot of research on this. This is just my

reasoning but it would seem to me that if the percentage of blood cells

affected was in a low range then other cell lines would be in a

comparable range.

Hope

[Guest guest]

Hello Margo:

I was in the exact position you are now when I was 20 weeks into my pregnancy

and was told my daughter would be born with MDS. The amnio showed a

percentage of 48% ds cells, however after she was born 's blood tested

at

11%.

I can tell you that my daughter has no physcial features of mds. If you met

her you would never guess her diagnosis. We did give her early intervention

services from the time she was 3 months old until she went into kindergarten.

She met all her milestones within normal limits, walking at 13 months old.

Today she is finishing up fourth grade in elementary school. She does not

qualify for any special services and has been doing fine academically. Math is

her

biggest struggle as she has difficulty with reasoning and problem solving.

She has to work much harder than other kids in her class but she has been

holding her own. She loves to read, write stories, play on the computer, takes

ballet and jazz classes and this year learned to play the clarinet in band. I

don't know what her future will be but we take it a day at a time.

As far as your decision to stay home or go back to work, the only thing I

will comment on is, it will benefit your baby to get him/her all the early

intervention you can. I choose to stay home and have the therapy provided in my

house, but there are many options to choose from, including taking your baby to

a

center for these services. I am sure you would be able to fit it somewhere

into your schedule even if you do go back to work.

The decision to have more children of course is totally up to you. Many of

the parents in this group have had more children after their mds child was

born. I personally only wanted 2 children at the time and the thought of going

through the ordeal of being told " there is something wrong with your baby, now

do

you want to terminate the pregnancy " was too much for me to deal with a

second time. I can tell you that 9 years later I wish that I had gone ahead and

had another child. ( I do have a son who is 3 years older than ). If

you would like to read 's story it is on the mosaic ds website under

Nekoloff in the personal stories section.

Finding out before the birth is difficult in that you are forced to make a

heart wrenching decision, but it gives you time to prepare for the birth of your

child so that when the baby is born you can focus on enjoying your baby.

Feel free to e-mail me privately if I can answer more specific questions you

may have or if you just want to " talk " .

ann

[Guest guest]

Hello there!

When I first read your message, I thought I would not respond since I did not

go through the pregnancy experience with our daughter. Then I thought again

and decided to also relate our experience.

My husband and I are the adoptive parents of several " special needs "

children. Halee, is the third child we adopted and we found out the week she

was born

that she had MDS. The doctors knew at birth from her appearance that she had

DS, but the MDS wasn't diagnosed until later that week. We haven't had her

retested as to the percentage, but at birth, she was 40% effected. Halee

turned 9 years old last week! Halee is in a typical second grade class and does

work on a Kindgergarten to first grade level. If she didn't have the " Down

Syndrome " facial features, it would be likely many people wouldn't know there

was anything going on.

We have several children with Down Syndrome and Halee is by far much higher

functioning than any of our children with DS.

You also mentioned you will have a fetal echocardiogram which is also a good

idea. Halee is the only one of our DS children that did not have some kind of

heart defect. All the others either self healed after birth or required

surgery, all of which went very well.

Now a warning! Due to the fact that my husband and I adopt children with

special needs, we have seen a lot of mistakes with prenatal tests. We have some

children who are the results of false negatives and several parents who had

arranged with us prenatally to adopt their child due to positive prenatal

testing who later changed their minds after the child was born healthy or

uneffected. Since our main goal is to educate the parents regarding children

with

special needs in hope that they will decide to raise the child themselves, we

are

always happy when the later occurs.

I would be happy to answer any questions you may have.

Congratulations on your baby! Good luck to you!

Barb - loving wife of dan! Mommy to ten of God's special angels: Chelsea

0:), Gabby 9, Halee 9, Becca 8, Davin 0:), Ana 5, Emma 3, Kamryn 0:), 17

months, Oliver 12 months!

[Guest guest]

Greetings!

I am so happy you have found our group! I am Barb Martz, and live in

Western Pennsylvania, USA with my husband of nearly 17 years Bob and our two

sons, who is 8, and Jonas who is 2 and has MDS with 30% effected cells.

Jonas is doing really well! He was two months premature, and started walking at

15 months of age. All of his physical accomplishments have been right on

target. He says a handful of words, but is " talking " all the time. He has so

many sounds, that we are starting to wonder if he is speaking a different

language that we just do not know! We do sign language with some words when we

speak to him, so he can communicate with us using the signing as well as all the

other verbal and physical ways he communicates his needs to us now. The studies

are showing that reinforcing words with sign language is a good idea for all

children. As soon as they can say the word, they drop the sign for it, but the

signing lets them communicate with parents earlier. We have therapists coming

to the house monthly to do Physical Therapy, Oral Motor therapy (he wants to eat

only foods with a smooth texture, we are trying to change that), Speech therapy,

and occupational therapy. All these folks are working to keep Jonas on track,

and help him in any areas he is needing help. We started with these folks when

Jonas was only about two months old, and they have been wonderful for him, and

have helped us to help him. We are able to have these services in Pennsylvania

free of charge through the Early Intervention Program. I often refer to Jonas

as " Sir Jonas " because he is " King of the castle! " He is the dearest and

sweetest little guy you could ever wish to be honored enough to know. He is also

a pack rat who likes to tuck and hide any small thing he can all about the

house. He is a monkey who can climb things that were never meant to be climbed!

He is a joy and a blessing to our family.

I did not have an amniocentesis done when I was pregnant with Jonas even

though I was 35 and the doctors were putting heavy pressure on me to have one.

I personally did not wish to have the test done because I did not feel that any

information that could be gained with the test would effect my decision to carry

on with my pregnancy, and to know, or believe that my child had a problem would

have caused me more worry than anything else. I would have imagined the worst.

That was just MY choice, I think each Mom has to weigh her own feelings about

the prenatal testing. Many Moms in this group are very happy they knew before

their child was born.

Jonas was 2 months premature, and we found out on his 10th day of life that

he had Down syndrome and then found out on his 13th day of life why it had taken

so long for the doctors to come up with this diagnosis... he had MDS and

carries very few of the physical characteristics typical of Down Syndrome. Jonas

was born with atrial-ventricular septal defect of his heart, (two holes in his

heart). The doctors thought that he would need surgery in the first year of his

life to correct this. (The success rate is over 90% for this heart surgery).

Jonas is now 2 1/2 and he has had one hole close on it's own, and the other hole

keeps getting smaller, so he has not yet had to have any surgery, and we see the

cardiologist again in December for a check up. We are praying that the second

hole closes just as the first one did, and that he never needs the heart

surgery. He has never needed any medication for his heart, and has never shown

any signs of heart failure. He is so busy, he wears his father and I out just

watching him some days. Jonas has no other big medical issues to contend with.

If you are interested in Jonas' story of coming into this world two months

early, check out the Personal Stories section at www.mosaicdownsyndrome.com

under the surname Martz. It is a pretty incredible story.

I mostly wanted to address your question about whether it is unfair to a

child with MDS to have another baby. is our oldest son. He is fully

aware of Jonas' diagnosis. The two of them are the best of buddies. The most

wonderful moments of my days and weeks are the moments when they are on the

floor together laughing their heads off. Jonas loves his big brother and there

is not another person alive that can make Jonas laugh like . I think your

child would thrive with a sibling younger or older! I expect Jonas to go to

normal school, and to grow up pretty much like any other child. He may take a

bit longer to grasp some things in life, but he will do it just the same, and

will be right there with Bob and I helping him to be the best he can be.

Many folks in this group have had children after their child with MDS was born,

and they can give you some perspectives on having that exact situation.

I was a stay at home Mom before Jonas was born. I quit my job of 10 years

to stay at home with when he was 1 1/2 years old, and just as he was in

Kindergarten, Jonas was born and so I have not returned to work. Many women in

this group work outside the home. It is certainly possible to do. I plan to

stay at home with the kids as long as they are not in full time school. I will

probably have to return to the work force to help pay for college at some point!

I think it would be harder for me to concentrate on the therapies that we are

doing for Jonas if I were working full time, but then again, " If you want

something done, ask a busy person to do it " . A very personal decision that you

will have to make with your spouse based on your preference as well as the need

for you to work. We do without some things like cable television (we are a PBS

family anyway) and things like cell phones, brand new cars, and the like so that

we can make do on one salary. You will work it all out. Something will tell

you what is right for your family when it comes to that.

Finally I want to say that I can imagine exactly how you are feeling if you

just heard this news. When I heard it, I was so stunned, and I was hearing it

over the phone (on my insistence) with Bob on the extension in the same room

with me together. We just cried and called family and then I cried so hard that

I felt like I could burst a blood vessel in my head. I fell asleep crying that

night and woke up with tears streaming down my face in the morning. I cried in

my sleep that night. By the time I got out of the shower in the morning, I was

aching to get my hands on my perfect little baby in the neonatal ICU (due to the

prematurity, and not related to MDS). We had to drive about 1 hour to the large

hospital where Jonas was for his first 22 days of life as we did each day. When

I got to the hospital and held him again, as I had been doing for 10 days prior

to knowing of the MDS or the heart defect, every bad feeling melted away. I was

just sitting there holding the same dear child that I was already head over

heals in love with. Nothing about him had changed, it was only the information

we had about him that had changed. My husband said it best, " Holding Jonas just

gave him so much peace " . That is just what it was like. Today, if you asked me

if being the mother to Jonas is harder than being the mother to , I would

have to say a resounding NO! Raising him is just as joyful for us as it was for

us to raise as an infant. We have challenges and parenting is still " not

for sissies " , but we never thought it would be. We are thankful that we have

these two precious boys to raise up, and we are looking forward with joy to

seeing what the future has waiting for this family.

Many blessings to you and your spouse. I will be lifting you up in prayer

as you face all the questions that we have all faced at one point or another.

Things will work out just fine, you will see. There is a plan for you and your

future family much greater than anything you can dream of or even imagine right

now. I hope your pregnancy and delivery are uneventful and that everything goes

very well. Please do stay in touch with us, and tell us more about yourselves

if you choose. I am wondering where you are from?

Sincerely,

Barb Martz

Mom to Jonas 2 1/2

(MDS) & 8

just rec'd MDS diagnosis--would like feedback/advice

My husband and I just learned yesterday that the results of our

amnio (Im 19 wks pregnant) showed that our baby has MDS, with an

abnormal chromosome rate of 12%. We had never heard of this form of

Down Syndrome before and are struggling to learn more about it. I

would be particularly interested in hearing from parents of MDS

children with a similar chromosomal percentage rate. Im also

curious about continuing to work after an MDS baby is born vs

staying at home (before the diagnosis, I had planned on taking off

for 12 wks after the birth and then returning to work). Finally,

since this will be our first child, and we had planned on having

more than one, Id be interested in hearing about couples who made

the decision to have another child after an MDS birth -- is it

unfair to the MDS child to have another baby?

Thanks!

Won't you please consider adding your personal story on the MDS website today?

http://www.mosaicdownsyndrome.com

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

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

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

MDS MESSAGE BOARD - http://www.mosaicdownsyndrome.com/discus

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

[Guest guest]

Hi I am so glad you found our group!

My daughter Ariel is 55% affected in her blood tests and is doing fairly well

in school overall....Typically just a little behind her peers although there

are many kids in her grade that arent doing as well as she is.

I am not a doctor but before Ariel was born I was going to go into genetic

counceling. My mentor at the time had told me that a " mosaic " result from an

amnio is very difficult to councel due to the fact that essentially, it was a

great possibility, that the baby could be fine and that the abnormal cells were

only in the amnionic fluid.

I myself didnt have an amnio with Ariel or with her younger sisters. I did,

however, receive councelling. Due to how unusual mosaicism is they told my

that I either had a 1% chance which was typical of a women to having another

child with DS or no different than any other women my age (25) it all depended

on

whether Ariel started out " normal " and went " abnormal " or Abnormal " and went

" normal " and there was no way to know that. I do know that I have happy and

healthy identical twin girls who drive me nuts though! UGH

Good Luck and hope I was some help to you

[Guest guest]

-My name is and my sons name is Jakob. We did not know of his

diagnosis until kindergarten, (He has 13 percent effected cells,

MDS) although we did suspect something was wrong when he did not

sentence at 3 years old. His pediatrician suggested Early

Intervention. (We live in north central PA) As Barb had told you, in

PA this is a free service. The therapists came to our home to test

Jakob and found that he needed speech and fine and gross motor skill

(Occupational therapy) help. He had this at our home for 2 years

then went to a specialized preschool for one year before starting

kindergarten. He needed to be tested by a psycologist from the

school district before entering kindergarten and she found him to be

mildly mentally retarded. We knew he was learning delayed but since

he has no pyhsical characteristics of DS we never suspected anything

else. This lead us to meet with his pediatrician to discuss what

she thought and since she never suspected he had anything but

learning delays she referred us to a neurodevelopmental specialist.

This is when we got the MDS diagnosis. Jakob continues to see this

specialist every 4-6 months. He had all the tests done for DS,

heart, eyes, ears, thyroid and the x-ray to rule out atlantoaxial

instability. Everything was normal except the thyroid, the one

level was higher than it should be so we have this checked every 6

months. He is now 8 years old and in mainstreamed 2nd grade with

learning support (special ed. for language arts and math), speech

and O.T. This year he has decreased the time in and out of school

for O.T. because he is meeting all of his goals. You would never

know to look at him that he has MDS. His doctor has told us that he

will learn everything " normal " children do but at a slower pace.

Which has proved to be true. His best subject is reading. Math is

a little more difficult for him. His teachers have told me that

they think he has a photographic memory, he doesn't forget anything.

Which is really helping him with school work.

We did want more children so we went to a geneticist and she told us

it was possible to have other " normal " children. We have since lost

two babies, so I guess this was not in God's plan. I guess I didn't

tell you that I was 34 years old when I had Jakob. I am 43 now and a

little too old to try again.

As to your other question...I am a stay-at-home Mom. We had decided

long before Jakob that I would be home with our children and I am

fortunate enough to be able to do that.

Someone on here asked: (I think this was the question) Do we now

wish our children were " normal " ? I know I would not want Jakob any

different than he is right now. He is so loving and caring and has

enriched our lives more than I could ever have imagined possible.

However, I do wish I could make learning things easier for him.

I do want to tell you this. My friend just had her 4th baby and the

entire pregnancy the doctors told her that the baby had DS. Her

daughter is perfectly normal, not a sign of DS. So I do hope that

you enjoy your pregnancy; do the tests that are ordered for you (as

my friend did) and know that all your new friends on this group are

praying for you. Please keep us informed as to how you are doing.

Take care!

(Mom to Jakob, 8 MDS)

-- In MosaicDS , " mjfitton2k3 " <margo@j...> wrote:

> My husband and I just learned yesterday that the results of our

> amnio (Im 19 wks pregnant) showed that our baby has MDS, with an

> abnormal chromosome rate of 12%. We had never heard of this form

of

> Down Syndrome before and are struggling to learn more about it. I

> would be particularly interested in hearing from parents of MDS

> children with a similar chromosomal percentage rate. Im also

> curious about continuing to work after an MDS baby is born vs

> staying at home (before the diagnosis, I had planned on taking off

> for 12 wks after the birth and then returning to work). Finally,

> since this will be our first child, and we had planned on having

> more than one, Id be interested in hearing about couples who made

> the decision to have another child after an MDS birth -- is it

> unfair to the MDS child to have another baby?

>

> Thanks!