I need some info on....

[goofinoff]

Down Syndrome. My friend was just told that the baby she is carrying has Down Syndrome. I have so many questions and have not been able to find answers. My first question is...Is there any specific thing that causes this or is it just something that happens 1 out of 800 times (i did find that fact)? 2. Are there different kinds of Down's? In other words can someone have a mild case opposed to a severe case?
3. What kind of life should my friend expect? I know that this is a broad question, and I hope that I am not coming off as ignorant, but it is what is going through my mind right now.

I want to help her, but I don't know how. I was hoping if I had some good information I would know what to say to her. Where else can I get good info....but here?

So if there is anyone out there who has experienced this, knows someone who has or has the knowlege of this...can you please help me. I just want to help my good friend.

Thanks!

 

[LadyBears]

Just bumping this for you. While I personally do not have any experience with this, I do remember reading things here from several posters who do have experience with this first hand....

You may also get some info from the DisAbilty board here, too.

 

[Katy Belle]

No advice either, but I do remember that the test for Downs Syndrome while you are pregnant has a very high false positive rate. I know 3 ladies personally that were told their baby had Downs Syndrome before birth and didn't.

Good luck, you are a great friend!
Katy

 

[goofinoff]

No advice either, but I do remember that the test for Downs Syndrome while you are pregnant has a very high false positive rate. I know 3 ladies personally that were told their baby had Downs Syndrome before birth and didn't.

Good luck, you are a great friend!
Katy

Unfortunately, this was an amnio. So the results are pretty accurate. My SIL had the other test that they give and it was a false positive. This test is, I think she said, like 95% accurate. They are running another one that will definately determine it.
But thank you so much!

 

[goofinoff]

Just bumping this for you. While I personally do not have any experience with this, I do remember reading things here from several posters who do have experience with this first hand....

You may also get some info from the DisAbilty board here, too.

I'm sorry...what is bumping?

 

[LadyBears]

I'm sorry...what is bumping?

basically, even though I don't have any helpful information on the topic, I am posting so that this thread will stay near the top of the page for others to read. If no one posts a response, the thread will fall to the bottom of page one, then page 2, then page 3, etc...

 

[brasswillow]

I don't know much about the technical side of things, but I do know some about life with a person with a disability. My sister is mentally challenged with autistic tendencies. She has had many friends throughout school who have had Downs and from my experience there are different levels of functioning.

I think a big thing is how the family, friends, and school treat the individual. Treat them like you would treat any other child, when you need to make accommodations, you'll know. At this time you just need to support your friend, just like you would support any other expecting friend.

Best wishes.

 

[kctwinmommy]

I'm sorry...what is bumping?

When someone replies, it gets bumped up, so people will say "bump" if they don't have anything else to say, but they want your/their thread moved up.

Now, as far as the Down's... my cousin who just turned 30 has Downs. Then a mom in my twins club has a 6 year old with Downs, and the one thing I can tell you (or your friend) is that times have changed a LOT! I'm amazed at the things this other mom tells me about her DD compared to my cousin. Yes, I know there are different degrees of the disability as well.

If it turns out the baby does have Downs, I'm sure the hospital and doctors will be able to give her a lot of resources. I believe my aunt denied that her son had it. Not that she actually denied it, but that she didn't want to deal with it, so I don't think that he ever got the most help he could. He's very low functioning, would never be able to live on his own, even in an assisted living type setting.

Anyway, I wish her luck with whatever the end results are!

 

[KathyTX]

Hugs to your friend. Sounds like she has an interesting road ahead of her.

Note that I said interesting. Not necessarily tragic. But different.

There are lots of good resources on the web that will give you an overview of Down Syndrome. Here's one: http://www.kidshealth.org/parent/medical/genetic/down_syndrome.html

In a nutshell, children with DS have one extra chromosome. It's not really known *why* it happens. It does happen more often when the mother is older.

The symptoms of DS kids can vary widely, from very mild signs to pretty severe retardation... There are two boys with DS that my son has known for several years. They're both very happy and friendly boys. They do go to special classes with teachers who are trained to encourage the very most from them. They socialize well with the other kids, and the other kids treat them almost as little brothers- gently teasing, and a bit protective.

These two guys are very quick to laugh, and very quick to give hugs.

They've each had a few unusual health issues, but nothing disabling.

There's a great essay about raising a disabled child called "Welcome to Holland". It isn't the place you intended to go, but it had it's own charms.



WELCOME TO HOLLAND

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."

"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.

But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.

 

[Karel]

People with Downs Syndrome can be the sweetest, nicest, most loveable peope you'll ever met. They are also incredibly stubborn and set in their ways!

It has to do with an extra chromosome. I can't give you a whole medical explantion but I think it just happens. You cannot pinpoint anything.

A lot of people with Downs Syndrome can have many other medical problems but that is not always the case. They are all mentally ********... slow to learn. That means their IQ will be below a certain number, which I used to know but not anymore. Not all people with mental retardation have Downs Syndrome but all people with Downs Syndrome are mentally ********.

As with most disablities, you will not know how severe it is until the baby is here and starts to grow up. There is soooooo much help out there! The earlier you get a child into a program, into learning, so much better their future will be.

 

[minkydog]

I don't have information on Down Syndrome, specifically, but I do have a child with a very rare, Down-like disorder. So perhaps I can offer some suggestions:

Don't be afraid to ask your friend questions. She probably needs to talk. Keep it open-ended and don't offer advice. Until she actually has the baby, she won't know what to expect(and even then there's a lot to learn.) Let her talk it out.

Show genuine interest and you won't seem nosy. Be excited for them--babies are wonderful even if they aren't "perfect." Notice how beautiful the baby is. Be excited for every new milestone no matter how small--no step is trivial to the mom of a handicapped child.

Support the parents however you can. They are in for a year-long tour of the local children's rehab(PT/OT/Speech) and they aren't going to know what hit them. Bring dinner. Take their other kids to the park. Offer to watch the baby while mom gets a nap upstairs. Make phone calls for the new parents. Go with them to therapy to learn how to help the baby. Rub mom's shoulders. Lots of people want to help and they don't know what to do. Remember--they won't know what they need for awhile.

Expect them to go through different stages of grieving. It's normal to be up and down, especially the first year. As wonderful as the baby is, I don't know one parent of a mentally handicapped child that doens't wish things were different.

Don't advise. Just support. Let them find their own way. and be very patient while their world explodes around them. Be the one who keeps checking back and don't take no for an answer.

Cathy--mom to Christian the Amazing Wonder Boy,12
(Pallister-Killian syndrome, seizure disorder, vision & hearing impaired, autistic, severely mentally handicapped)

 

[wdwdancerwannabe]

I am a speech language pathologist and a special education process coordinator for our school district.

Down's Syndrome is a chromosomal disorder. What this means is - it is in the genes - I used to know the exact number chromosome that was effected - but have now forgotten that magic number. If this one particular chromosome is effected and shows a certain way - this is how it is diagnosed prior to birth. It is common for the children to be born to mothers who are older (late 30's/40's) - especially if it is their first baby.

The severity, however, cannot be determined this early. That is a "wait and see". I have seen severe Down's and Mild.

Typically, these children WILL have speech, language, cognitive and motor impairments to some degree. Often times they have a heart condition that may sometimes require surgery - but this is not seen in all children w/ Down's. They also may a defect in their spine that limits there physical activity. I had a four year old who had major surgery on her spine and had to wear a halo for a while - she's in first grade. Her Special Education Teacher was just "doin' a dance" today because she added one digit numbers by herself! We were very proud of her.

I had three preschool children with Down's at one time - and they were all very different from each other - all with their own strengths and weaknesses -- just like all children.

There is tons of information on the internet. If you live in a large community, you should be able to find a support group in your area. I know in Kansas City there is a "Down's Syndrome Guild" - they do a big conference/convention every year for parents and professionals.

The best thing that you can do is to support her and encourage her. (your friend).

Just the other day, a parent of a Down's Syndrome child (age 8) who for the past couple of years had a really hard time accepting her child being in a special education classroom put it best. She said, "I want her (the child) to be what she is.....I don't want her to be what she's not". Meaning that she had accepted where she is and what she was capable of. I think, for her, she is trusting the special education teachers to bring out the best in her.

Good luck to you and the new mom.

 

[wdwdancerwannabe]

here is a link:

http://www.kcdsg.org/

 

[NotUrsula]

My first question is...Is there any specific thing that causes this or is it just something that happens 1 out of 800 times (i did find that fact)?

That depends. *Most* of the time it is a completely random mutation that occurs very shortly after conception and has nothing to do with the parents' genetic makeup; the child has a third copy of chromosome 21 (which is why you will see Down sometimes referred to as T21, it is trisomy of the 21st chromosome.)

There is a possibility that T21 can be caused by inherited factors, so-called translocational T21, but such cases are rare. It can be verified; doing so requires a blood test on both parents.

2. Are there different kinds of Down's? In other words can someone have a mild case opposed to a severe case?

Very much so, the range of possible function is huge, and with only one exception, there is absolutely NO way to tell before birth how severe the degree of disability is likely to be. As someone else has already mentioned, serious heart defects are very common, and the truth is that the vast majority of T21 pregnancies are miscarried early for reasons related to that complication. (My own T21 daughter could not survive to term because of a lethal combination of conditions called Cystic hygroma w/ hydrops fetalis; her lymph system was essentially nonfunctional.) Fairly serious hearing and vision problems are also somewhat common as side effects in surviving children.

The diagnosable exception I mentioned is what is known as mosaicism. In mosaic T21 only some of the cells in the body have the extra chromosome, and some do not. This form is usually milder, and mosaic children tend to be fairly high-functioning.

3. What kind of life should my friend expect? I know that this is a broad question, and I hope that I am not coming off as ignorant, but it is what is going through my mind right now.

Unless she gets a definitive diagnosis of mosaicism, there is unfortunately absolutely no way to tell in advance, except insofar as the presence of other major structural defects might be detected before the end of her pregnancy. The life expectancy of T21 patients is much higher than it was a few decades ago, with good health care resources they commonly live well into middle age now, where in the 1960's they seldom survived past their mid-20's. Very few people with T21 end up completely self-sufficient in adulthood; most live in group settings or with some sort of caregiver, mostly because they usually cannot handle a job that pays enough to maintain a solo household. Men with T21 are sterile, women are sometimes biologically able to have children, though they often cannot fully understand the process.

As to what to say to your friend, tread carefully and support whatever decision she makes. You should know that the US termination rate for pregnancies with definitively diagnosed T21 is 92%. If she makes that decision then mourn with her for the loss of a wanted child. (And understand that if she does choose to terminate, the experience might be ugly in more than just a medical sense; if she has confirmed this by amnio she is into her second trimester; terminating may be expensive and perhaps even involve facing down protestors.) Also realize that her previous beliefs about abortion may change -- what seemed straightforward when it was theoretical may take on many shades of grey when the situation is real and personal.

If she decides to carry to term you should treat the pregnancy like you would any other. Follow her lead.

 

[Moonmom]

Seems like you're already doing a true friend does... trying to learn about may come. Google "Downs Syndrone" and you'll come up with their national website, there's wealth of information there.
I had a friend who was told her child would be severely deformed/ down syndrome; heart defects; cleft palate, etc. The baby, a girl, was born, full time and was fine..perfectly healthy. My best friend, however, who chose not to have the amnio, (it was her 3rd child) had a boy. He was born with a partial cleft palate, heart problems, and Downs Syndrome.
He's now almost 16.
He's required surgeries and therapists and infinite patience. And because of his poor motor control he needs braces on his feet... and his mom, (and anyone that wanted to understand him-like me,) needed to learn how to sign
'cause it's hard for him to talk clearly. But he sure tries.. and I can understand when he tells me, "Ina... I luffff oooo." He's the happiest, sweetest guy I know.
About 8 years ago, his dad became seriously ill; and his grandma & aunt were staying with him & his preteen brother while his mom was with his dad while he was having major surgery. She told that when she'd come home for breaks it was like he'd welcome her with, "I'm so happy to see you."--she'd fall asleep exhausted on the couch and wake up to find he'd covered her with an afghan but had made a bed for himself on the floor in case she needed him.
And though they were very careful to downplay the father's illness each time she left for the hospital he'd tell her, "Dad be ok..I no it." Well.. he was right..he's not 100%, but he's alive, just limited.
Just be there for your friend... learn as much as you can... and then be there for her. Some things take longer... Downs babies often have muscle/ motor problems so even drinking a bottle may take forever. My friend's son came home on Christmas day morning.. and I have memories of her going in the shower; washing, AND drying her hair... and me STILL trying to get him to finish one little bottle of formula. I felt so inept!

 

[Forevryoung]

I'm a graduate student for Speech Language Pathology- my research right now started with a 6 month old with Down Syndrome. Yes, 6 months old we started intervention. We are trying to significantly reduce the expressive language delays of kids with Down and it's working.

Not to get too specific and technical, we are seeing amazing results. One of our children who started at 15 months are now 24 months are learning letter/sound correspondance which is a prereading skill (like that "k" makes a "kuh" sound), our almost 3 year old (with Down Syndrome) in the research is READING. If anyone wants, PM me and I can explain more about what we are doing in terms of super early intervention... non-invasive I promise

One thing that I would suggest your friend do is find out which pediatrician and service providers other parents of children with Down Syndrome use. They tend to all use the same 1 or 2 people, especially in smaller areas and those providers tend to have the best, up to date information for the best care possible.

Good luck to your friend, it's going to be a bumpy road and she's lucky to have you holding her hand.

 

[handicap18]

Just found this thread,,,, if you have any other questions after reading please feel free to PM me any time with ANY questions at all....

First and formost,,, CONGRADULATIONS!!!! to your friend!

My DD who is now 2 1/2 has Down syndrome. She has been a blessing to our family and friends. We too found out before she was born and while it is a shock at first, it really isn't anything to be affraid of. People with Down syndrome are people. They just so happen to have an extra chromosome.

The biggest problem with Down syndrome is that it is called "Down" syndrome. That has to do with the first doctor to identify the "differences" of individuals who have it. His name was Dr John Langdon Down, a physician in England and first published an essay in 1866 in which he described a set of children with common features who were distinct from other children with mental retardation. (you'll learn that the last word and its short form is very much put in the same category as the "N" word).

Anyway, it wasn't until the late 1950's that research doctors were finally able to scientifically determine that Down syndrome is definately a chromosome issue. Up until then it was only speculation. They still don't know what exactly causes it or why it occurs. There are 3 type's of Down syndrome, Mosaicism (not all cells have 47 chromosomes, some still have just the 46, 2-5%), Translocation (person with Translocation Trisomy 21 will have 46 chromosomes but will have the genetic material of 47 chromosomes, 3-5%), and Standard Trisomy 21 (all cells have the extra 21st chromosome, 90-95%).

There are possible medial issues associated with T21. They can be as wide spread just like with normal developing individuals. They include problems with the heart, gastrointesten track, eye sight, hearing, low muscle tone and other issues. The vast majority of these issues can be addressed at a very early age (within months after birth). Because my DD has T21 we know a lot of other families with kids that have T21. Many of them had heart surgery to fix a hole in the heart, a few had gastro surgery, a couple of boys wear glasses and there is 1 little boy wears a hearing aid, quite a few have had tubes put in their ears (including my DD) to help with balance, speach, hearing and preventing recuring ear infections. But overall, they are all very healthy. One of the first families we met have a son who is now 10 and he is only real issue is speach. Because of that he's a little on the shy side, but when it comes to school he is very bright. I believe he's in the 5th grade and is reading at a 7th grade level.

There are so many uplifting stories out there. We have met so many great people and families. It is a wonderful community to belong to. My DD is doing great. Her biggest issue is speach. Typically kids with T21 are about a full year behind other kids their age when it comes to speach. The other stuff can be delayed. MY DD sat up at 6 months, crawled at 10 months and walked at 18 months (would have been earlier if we had the tubes put in earlier). We met 1 little girl who was walking at 12 months.

Because of the speach issues, we are teaching DD sign language and she is very receptive to it. Certainly helps her tell us what she wants. She is now starting to drop different signs as she is starting to use more words.

Early Intervention will be a big part of the families life. For us it started when DD was 2 months old IIRC and it will stop when she turns 3. She gets home visits 3 times weekly from a occupational/physical therapist, speach therapist and behavioral therapist. When she turns 3 she gets inrolled in a state run "preschool/day care" at the local high school. She will go there till kindergarten which she will be in with all the other kids right though high school, then college if she wants to go.

Here are a few links to look at. The first 2 are articles written by Beverly Beckham, a weekly columnist for the Boston Globe who has a granddaughter with T21.

An extra chromosome isn't awful
Lucy is learning. Are the doctors?


This a story on Carrie Bergeron, a young woman with T21. She was featured on either 20/20 or Primetime last year, and also was a feature story in Time Magazine last year as well. We met her in '05 at the MA Down Syndrom Congress Conference. She was the Keynote Speaker and was a joy to listen to.
A young woman with disabilities plans her wedding

This last link was written by a high school student for an essay project:
The Speach

Again, if you have any questions at all or if your friend has questions feel free to PM me. My biggest advise to your friend, get involved in a family support group. For both the kids and the parents. We have a great group in our area. I'm sure they can find one in their area too.