Re: Test Results

[Guest guest]

Kara,

Please don't ever feel sorry about posting " too much " There is no such thing as

too many posts! And, that is what we are all here for! To answer your questions

and learn with you! We are a big happy family here! And you are part of our

family!

My guess is, when the doctor did the blood test on the boys and called you with

the question of MDS, that she has the results back on the blood test and knows

that it is MDS that the boys have. Sometimes, MDS only shows up in the blood or

only shows up in the skin. When someone goes in for a test to see if the child

has MDS, I always recommend a skin and blood test. The skin test is usually a

swab of the cheek with a tooth brush. The reason I recommend this is because

sometimes if only a blood test is done, then the Down syndrome cells wont show

up because they are only in the skin.

In your case, since you already have had the blood test done, and the doctor is

already suggesting MDS, then that should be enough. She will have the

percentages when you arrive. But, let me impress that just the number of the

percentage does not tell you the outcome of it all. This is a " time will tell "

kinda thing. If a child has 25% Ds cells in their body, and all 25% are in the

heart, then only the heart would be affected . If 25% of the cells were in the

part of the brain that affects speech, then the speech would be affected. Or,

the cells could be throughout the body and many parts are affected with 1% of

the 25% Ds cells. This is just an example.

The doctor will not have ALL the answers, but she will have some of the medical

answers. You will find that most of your answers come from IMDSA and its egroup.

When my son was dx at 2 1/2 years old, a social worker from our EI program came

to my house. One of the questions she asked me was, " What do you expect Tim's

future to be? " I thought about that and I told her that I didn't know what any

of my son's futures would be, but I would make sure they would be the best at

whatever they did! I have never treated Tim any differently than his brothers,

outside of working harder to teach him how to speak and how to read and write.

Tim is now 18 yrs old. He is a senior in High School. He has never needed

special education.His reading level exceeded state testing when he was only in

the 8th grade! He is also writing a novel that will be for an adult audience,

because his writings are way to advanced for his peers to " get it " . Although he

does has " some " issues with socialization, he is as " normal " as any other kid in

his school. Treat your children like they do not have a disability and they will

not know any different!

I know that you wish there was more information out there! I think each parent

has always wished that! I have been working (in my spare time haha) on

completing my book on MDS. This will be a complete guide to MDS and hopefully

answer most of the questions you and all the other parents have. It is my goal

to finish this book by the beginning of next summer! Hopefully, I will be able

to complete it, and you will have your answers!

Kristy

THE ONLY HANDICAP A PERSON HAS ARE THE PEOPLE AROUND THEM!

Kara Anonymous wrote:

I am sorry if is seems that I am posting so much. I

guess I am a little confused about everything and also

happy to find a place where I can get some anwers.

My question is this: How did you find out that your

child/ren had MDS? My boys had a blood test to check

for chromosone disorders. The doctor called us and

asked me if I have ever heard of MDS? I said no and

she said that she wanted to meet with us next week. We

are going on vacation to San Francisco next week so we

have to wait two weeks to meet with her. It is going

to drive me crazy waiting. I did some research on my

own on the internet and there is not much out there.

Will we be able to find out what percentage they are?

Do we have to request a specific test to find out?

Will the doctor have all the answers when we meet with

her?

I hate waiting. I wish there was more info out there.

I just want to know what to do and what to expect.

--- Kara Anonymous wrote:

> Thank you so much for the welcome.

> All three boys are in therapy and infant stimulation

> programs due to the prematuraty and drug exposure.

> With the new diagnosis I am trying to get more. One

> of

> my boys is being evaluated by a spech therapist

> tomorrow and I am trying to get them all evaluated.

> They all babble but have no words yet. They babble

> mama and dada but they are not associating us with

> the

> words.

>

> A little about our family:

> , , and JJ ( Jr.) we born last

> June.

> They were 2.5 pounds at birth. We brought them home

> on

> Febuary 20th.

> On Friday October 22 we sign the adoption paper work

> and wait 30 days for our court date. When we get our

> court date we will finally legally be a family.

> We are part of many groups including The Triplet

> Connection and MOST (Mothers of Super Twins). We

> also

> joined the local triplet groups to go on play dates

> with twice a week.

> and have been cruising the furniture

> for

> two months now and I am hoping they will walk soon.

> JJ

> just started to stand and looks like he might think

> about cruising too! He is being evaluated at the end

> of the month for hip dysplasia.

> JJ was born with necrotizing entercolitis and on the

> fourth day of his life he had surgery to remove part

> of his colon. He now sufferes from short bowel

> syndrome and reflux.

> All three boys were born with heart murmurs but at

> the

> last pedi check up the murmurs were not detected.

> is having his hearing checked next month and

> is seeing an eye doctor for the second time

> because they think he may have a lazy eye.

> We have a lot going on with these little boys but we

> are sooooo proud of them. They are our miracle

> babies.

> They survived a high risk pregnancy with a young

> mother on drugs who got no prenatal care. Even more

> of

> a miracle is little JJ. Necrotizing Entercolitis is

> the second highest cause of infant mortality in

> premature births. His tiny 2.5 pound body surived

> the

> surgery while coming out of drug withdrawl.

> I love my boys so much. I am now trying to get them

> every service possible. Our local regional center is

> providing some services for all three and JJ is also

> recieving services from CCS. I can not beleive how

> many therapists are in our home each week. I at

> least

> keep Wednesdays free so we can go out on play

> groups.

> I struggle to do every thing each therapist

> recomends

> us to do with the boys. I barely have enough time to

> clean the house (which most of the time I don't) and

> make meals for the boys. Poor DH has to make his own

> dinner. Giving each boy his own quality time is

> hard.

>

> Question: Do your children snuggle? My boys totally

> reject cuddling and snuggling. I can not even rock

> them. They do not like to up against my body. I do

> not

> know if this is a premie thing, a drug thing, a

> sensory thing, or DS thing, or all 4! They are very

> lovable and social boys but they just hate being

> cuddled.

> --- Kristy Colvin wrote:

>

> > Hi Kara, and Welcome to our family! It is

> > interesting that all three boys diagnosed with

> > mosaic Down syndrome. We do have several sets of

> > twins on our group, but you are our first with

> > triplets! It is great that they are standing and

> > cruising the furniture! With the prematurity and

> > drug addiction, they are doing remarkably well!

> Were

> > you refered to a Early Childhood Intervention

> > program yet? These programs help with occupational

> > therapy, physical therapy, and speech therapy to

> > help your little guys develop.

> > Please feel free to ask all the questions you can

> > here on our group! You will find that this is a

> > wonderful group of caring families and everyone is

> > happy to answer any questions you may have. Right

> > now, I am sure that you are a bit overwhelmed with

> > this diagnosis, but you will find by listening to

> > the other familes, that children with MDS can live

> > very " normal " lives.

> > The advice I give all new parents is, Do not treat

> > your child any differently than you would another

> > child, and your child will reach his full

> > potiential! Expect the best, and you will get the

> > best!

> > Please visit our website http://www.imdsa.com to

> > learn more about MDS and IMDSA. There you will

> find

> > links on how to join our organization. By becoming

> a

> > member of IMDSA, you will receive our information

> > packet full of MDS information, research, and

> > inspirations, our quarterly newsletter,MOSAIC

> WORLD,

> > and great discounts to all IMDSA functions! We

> will

> > be announcing shortly the dates and location of

> our

> > second annual IMDSA conference!

> > Please let us know where you live! We may have a

> > family in your area!

> > Sincerely,

> > Kristy Colvin

> > IMDSA President

> > MOM to Arron 23{Oct18}, 19, Tim 18{MDS},

> > Stevan 17, and Garrett 8

> > THE ONLY HANDICAP A PERSON HAS ARE THE PEOPLE

> AROUND

> > THEM!

> >

> > wrote:

> >

> > Please welcome Kara and her family. This woman and

> > her husband are

> > amazing. Here, read their story....

> >

> > " My name is Kara. In February I adopted three

> > beautiful identical

> > triplet baby boys. They were 8 months old when

> they

> > came to our

> > home. From day one we had questions as to whether

> > they had Down

> > Syndrom due to some physical features. But, many

> > doctors and

> > pediatricians told us that they saw nothing to be

> > concerned about.

> > We stopped worrying. Then, a hospital staff nurse

> > asked us if one of

> > the boys had Down Syndrome. Then a neighbor asked.

> > We started to

> > wonder again. They were developmentally behind due

> > to a premature

> > birth (born at 29 1/2 weeks) and they were drug

> > addicted. It was

> > obvious that these were the two reasons why they

> > were 11 months old

> > and not sitting or crawling. But now, many parents

> > of babies who

> > adopted drug addicted or premature babies are

> > chasing their little

> > toddlers around and our boys at 16 months are only

> > standing and

> > cruising furniture. They are also very delayed in

> > their speech but

> > cognitively they seem only slightly delayed. We

> > finally saw a

> > geneticist and wanted to rule out Down Syndrome

> for

> > good. She told

> > us that they only had slight features (flat face,

> > low ears, and asian

> > looking eyes-they are 1/2 hispanic) Only one of

> the

> > boys had a

> > square shapped palm with the crease that runs

> > together. Two of the

> > boys had a crease on their feet below the big toe.

> > The doctor told

> > us that these were not enough signs to completely

> > diagnose DS so we

> > did the blood test. Sure enough, it came back MDS.

> > HUH? Well, we

> > have done some reading now and we are coming to an

> > understanding of

> > what it is. This explains why they vary in their

> > physical features

> > and developement and why so many doctors

> disagreed.

> > We found out

> > only 4 days ago and we hope to find a place for

> > support and answers.

> > Raising three infant boys is hard enough. Adding

> > Down Syndrome seems

> > overwhelming. "

> >

> >

> >

> >

> >

> > Become a member of IMDSA today at

>

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__________________________________________________

[Guest guest]

To just slightly expand on what Kristi explained... mosaicism is

interesting...and confusing, to say the least! What they've learned about it in

the last

10 years that we've had this diagnosis here, is that every organ of the body

can be a different ratio. My son's blood was tested... it showed that 50% of

the white blood cells were affected. But this may not correlate with the rest

of his tissues. His brain could be 100% affected, his heart may only be 10%

affected... so on and so on. In my opinion, THIS is what makes it a " wait and

see " kind of thing...

I have a daughter going thru this also... her amnio showed that she had a

chromosome deletion in 1/4 of her skin cells...but when she was born, her blood

was normal, no abnormal cells. Unfortunately, my HMO doesn't offer the cheek

swabbing...they take punch biopsies of the skin, which isn't very pleasant...so

we've decided to wait until its our daughters decision... But the

geneticists explained it all again... what the ratio is in one type of tissue,

may have

no relation to what the ratio is in another tissue.

Keep us posted on the boys results!!

OH.. i had a question.. I was thinking about you all... and our family with

the identical twin boys, that story just fascinates me... are your boys

identical or fraternal??

Angel

Mom to , 11, MDS

[Guest guest]

nne!!!

I'm so glad you still come around and check in on everyone! I didn't

realize there were so many LDS moms out there!

Congratulations on the new grandbaby!! You'll have to keep us posted on his

or her arrival!!

~~ANGEL~~

Mom to:

, 11, Mosaic Down Syndrome/Hirschsprung's Disease

Lance 16, Tyler 12, 9,

Jaeda 8 and Shayne 2

[Guest guest]

Angel!

I must be number 5 then. I am from Stockholm Sweden.

Since our little granddoughter died I didn´t think I had any reasons to

write, but I have been reading on and off. My son and his wife are expecting

a new baby in April. We pray for the best.

nne

>

>

>

>

> Josie!

>

> I'd forgotten! I'm sorry... at the time I was thinking of

> Carol, mother to

> Ben. She hasn't posted in a long time!

>

> So, that makes 4...

>

> Angel

> Mom to

>

>

>