Down syndrome

[Upgradable]

I just read through the pregnancy thread as I am following and praying for Indy and her boys. Although I am not pregnant (been there, done that, have the stretch marks!) I thought maybe I could offer some useful advice to interested parties.

I have a wonderful, bright, beautiful sixteen year old son with Down syndrome. He is an amazing child and a true gift to our family.

If anyone needs a warm blooded resource for questions I thought I''d offer myself up.

 

[canuk-gal]

HI:

Tell me more about your beautiful boy!

cheers--Sharon

 

[Linda W]

Upgradeable, I would love to hear about your precious son.

Our neighbor down the street has an 18 year old boy with Down Syndrome. He is the most loving child and I just adore him. During the summer he comes to our house, some days to go swimming. He swims like a fish too. He is a treasure and his parents adore him. He loves to watch Sponge Bob Square Pants. I have never met a sweeter child. He is just an angel.

Hugs to your and your dear son.

Linda

 

[Upgradable]

I really wanted just to put this out there in case any of our pregnant PSers have concerns they want to address. But I''m always thrilled to brag on Paul.

I was 30 when he was born. He is our first child and I had no indication before birth that anything might be abnormal. There was a short period of adjustment (five stages of grief for any of you psych afficianados out there) but I''m a researcher and we quickly got hooked up with a terrific agency that started early intervention services for us by the time he was 1 month old. one of the greatest things they did for us was family advocacy training. Heaven help anyone who tries to tell us what he can''t do, or what we can''t do, or what we have to do! I can made a perfectly grown high school principal tremble just by walking into his/her office!!

In all complete honesty, we alternately refer to him 1)as our big lottery win or 2)as our inside joke with God. We had just about as much chance of winning the lottery as having a child with Down syndrome, and what do people typically do when they win the lottery? The celebrate their winnings. And we do!! We celebrate him every moment of every day! As for the inside joke... the conditioned response people give is "oh, I''m so sorry" or "it has to be so hard." We really do laugh because Paul is the least sorry, most fun kid I can imagine having. He has the greatest sense of humor and has so many friends and enjoys life in a way I wish I could bottle and sell! Our daughter is 20 months younger than Paul, and when she was in third grade she asked me, in the most serious voice, "Why is Paul so much more popular than I am?" Every place we went, from the grocery store, to the mall, to the movies, to ballgames, someone came up and said "Hi Paul!" then going on to introduce him to their parents or friends. He is very outgoing and popular.

He has been in the regular school system since he finished preschool. Kindergarten through 9th grade (currently a freshman, yikes!) he has been in regular classroom with pullout to focused appropriate level teaching in math, reading, and science. He has been on honor roll each semester of his middle school years, and right now is pulling three As, two Bs, and one C. He has a bad habit of not turning in his homework.

He rides the regular bus, loves to read and draw. His biggest joy is recasting Broadway musicals (Cats), High School Musical, and Charlie and the Chocolate Factory with his own friends. He draws up the costumes and maked quite elaborate sets.

Over 90% of women who are told they are carrying a fetus with Down syndrome opt to terminate the pregnancy. I am a huge advocate of a woman''s right to choose her own destiny. But I have a huge concern that sometimes decisions are made with inaccurate or incomplete information. My personal hope is that when a family receives this kind of diagnosis, one of the plans of action are to meet with a family that has a child that is leading a productive life with Down syndrome. If I can share any of our experiences in a meaningful way, it''s another validation of our righteous lottery win!!!!

 

[Upgradable]

Here''s a picture taken at our local spring Special Olympics track meet. Paul is surrounded by some of his groupies! His sister Erin is the girl in the front left of the picture.

 

[Linda W]

What a cutie pie he is and my heart almost stopped, he looks so much like our neighbor Jason it is uncanny. The same beautiful black hair.

Jason also goes to school on a bus and is a senior in highschool, everyone loves him. They are indeed special boys. A true gift from God.

Please give your precious Paul a hug for me ok?

Linda

 

[canuk-gal]

HI:

Thank you for sharing your family! I love the name Paul--and he is a cutie and looks like a happy patootie all right!

chers--Sharon

 

[Dreamer_D]

Upgradeable, thank you for sharing! I think the biggest issue for pregnant women is the fear of the unknown when it comes to Down syndrome. My DH has within his extended family two people with Down, and both are like you son: happy, sociable, outgoing. I don''t believe either are as high functioning academically. When DH and I talked about having pre-screening done, when we imagined having a child like your son we thought, no problem! Every child is unique and the challenges faced by kids with Down are probably balanced by the happy demeanor that seems to be characteristic of the syndrome. But I guess the worry is that not all kids with Down syndrome are that high functioning, and although early intervention clearly helps all kids with challenegs (same seems to be true for autism and many other developmental challenges) there is also a high dose of genetic variation in the severity of these types of syndromes. Do you happen to know the percentages of kids with Down sundrome who are higher functioning versus more severely affected, and also do you know of any stats about how much improvement can occurr with early intervention? I am curious more than anything at this point, since our screenings were negative (of course, anything can happen but we are in it for the long haul at this point, there will be no more testing going on). Thanks!

 

[Upgradable]

Stats on level of functioning are really in flux right now, because so much relies upon the way in which the child is raised and the degree of professional services that occur at critical times.

Paul is catagorized as mild to moderate. He has good language concepts, mathmatical concepts, abstractions are slower coming. He is a whiz at the computer! I really think that the most direct link to lower functioning occurs with babies born with medical complications. When the early weeks and months have to focus on resolving life threatening malformations, time is lost with focusing on brain function.

Essential is also getting connected with a knowledgeable child specialist who understands brain development and trains the family on those situations that are most stimulating to the newborn. For example, Paul used to play on the floor a lot, but placed there on his belly with his toys spread around him. He had to learn to lift his head and push up with his arms in order to see what toys were available. Toys were chosen to help integrate the brain working together, crossing the midline, handing things from one hand to the other. These are examples of normal development, and we were trained to "play" in ways that would encourage this development.

We also started using sign language when Paul was about one year old. By the time he was three he had a useful sign vocabulary of around 2000 signs. Honestly, spoken language is now Pauls biggest challenge. His voice is difficult to understand and he has a problem with stuttering, so he can get easily frustrated when he can''t get his point made. Usually he will then type it out on the computer or write it out on paper and that helps to get the point across.

 

[mia1181]

Upgradable,

I just wanted to say thank you for sharing your (and Paul''s) story.

I am a nanny to a special needs child. While I have never worked with a child with Down syndrom specifically, I have met quite few in my charge''s classes etc. Not to generalize, but the children with DS that I have met have all been sweetest ever and I have been so glad to know them.

My charge''s situation is much different. She suffered brain damage at birth when her mother''s placenta ruptured. Interestingly, my boss (her mother) had all of the amnio tests done with the intention of terminating the pregnancy if something was wrong. But they all came back fine and she had a normal healthy pregnancy. But things can still happen.

It''s funny that you compare your son to winning the lottery because my boss and I always talk about how before we were involved in the special needs community we used to look at kids with DS and think "Oh that''s the worst thing ever to happen to your child." Like seriously "anything but THAT!" But now that we know about the true range of special needs your child can have, Down Syndrome doesn''t seem so bad. Especially when you think about the issues my little charge has to deal with. Anyway, this might sound odd to you, but we have a little inside joke about how parents of children with down syndrome are the lucky ones of the special needs community. It''s late and I am hoping that comes out as I intended it... not at all to trivialize the challenges of a child with DS. Obviously we''d rather all children were healthy, but I guess we have both been touched by so many children with DS that it doesn''t seem like the worst possible scenario any more.

That said, I am definitely pro-choice and I honestly don''t know what I would do if I found out I was carrying a child with it. But I can tell you the children I have met have definitely impacted my thoughts in that area.

 

[Maisie]

Hi Upgradable!

Thank you for telling us about your precious son! He looks like he is great fun. I wish I could meet him some day. I adore seeing kids who can have a good laugh with people. There are far too many children with horrible attitude problems! My son James doesn''t talk properly, (he is 4) but he can still make us laugh lots of times every day. He is such a funny little chap!

When I was pregnant we were told that James me be DS. I refused the amnio tests because I knew I wouldn''t have an abortion. Thats just my personal preference though. I don''t judge anyone else for the decisions they make.

We read lots of stuff online about DS. Its so much more interesting to read a persons experience than to read online all the statistics and opinions of people who don''t have a DS child!

Thank you so much for sharing. Can we see more photos? I am very interested in the stage productions Paul puts on with his friends!

 

[Ellen]

Upgradable, thank you for sharing. Your son is adorable and sounds like such a sweetie!

Some close friends of ours have an 18 year old daughter with Downs. She is also a sweetie. My youngest babysits for her periodoically, though I tell him he shouldn''t get paid. She is so good, just listens to her music, plays with her barbies (I love watching her have "conversations" with them, she is so deep into another place then) and watches movies. So my son basically gets paid (well) to watch TV and eat.

Interesting about the sign language. They also got her in early intervention, but she doesn''t know SL that I know of. She is a bit hard to understand at times, and stutters sometimes also. I hate it when I can''t understand her, as she''ll finally get exasperated with me and rolls her eyes sometimes. She probably thinks, what a dummy!

Bless you and your boy!

 

[Lorelei]

Upgradable, thank you so much for introducing us to Paul, what an amazing young man he is - and I can easily see why you are so proud of him!!!!

 

[lisa1.01fvs1]

Hi Upgradable so many thanks for sharing your story. It is heartening to read a positve real-world example of one challenging pregnancy outcome I am currently contending with. I agree with the sentiments posted by DD especially since we have been going back and forth over the issue of testing and discussing the nuances of screening tools vs. diagnostics. For me, at age 39+ Downs is a very palpable reality and one that is wrought with very difficult feelings. I recently got the news that my risk is ''elevated'' or positve and that an amnio is indicated. Our statistical odds are 1/63. My odds based on age are 1/95. As this is our 2nd child we have many things to weigh. Also, the spectrum of severity is very broad for a Downs dx. Personally I have seen very mild-very severe cases post delivery and, as far as I know, there is no way to discern where any one child will fall.

I think every family/situation is unique and so are the feelings and/or actions when dx w/ Downs or any other known trisomy. I guess there is nothing in life w/o some degree of risk. For me, having al the info. and being prepared works best. I am fortunate to have known many families who worked through this situation. It has provided some direction and has demystified the reality. Again, thanks for sharing.

 

[Upgradable]

Lisa, your story was the reason I wanted to post. I really felt for you and the point you are at with your pregnancy. In 1988 I worked in the reproductive endocrinology lab at University of Chicago and was part of the team doing the testing and gathering the data in correllating low materal AFP results with the incidence of Down syndrome. This research was part of what implimented the currently used "triple test" to statistically identify individuals at higher risk for Down's, and offering them amniocentesis for confirmation of DS. Rather ironic, in my position.

What I have to offer is MY OPINION as both a mother and a medical technologist. My training and education, combined with my personal maternal experience, gives me a rather unique perspecitive into the available testing given to pregnant women regarding prediction of maternal outcome.

"Personally I have seen very mild-very severe cases post delivery and, as far as I know, there is no way to discern where any one child will fall."

I feel it is very important to address this belief first, as it is in one case WRONG, and in another POTENTIALLY DESTRUCTIVE. The best diagnostic tool in a DS pregnancy is the ultrasound! The most critical predictor of a childs' ability to thrive in live is his/her health. The most critical complications associated with Down syndrome are certain birth defects that have a higher likelihood of presenting in a child with Downs: heart defects and gastrointestinal defects. These can to a high degree be examined in utero during ultrasound. Prediction of and plan for addressing these physical anomolies are incredibly important. Paul was born with absolutely no physical complications, and with the exception of having tube in his ears for several years during his youth, he the healthiest member of our family!! I have known parents who have given birth to children with h11eart defects (all fully corrected) and one family whose child had a disconected esophogus. After several surgeries to address this, their sweet little boy died at age three. But I wish to point out that the VAST majority of live births with Down syndrome are healthy births.

Now, on to level of functioning..... Both my husband and I are intelligent, educated people, and the potential of having a child with limited intellectual skills was probably my major fear when we started discussing babies. Hindsight give me the advantage of laughing and shaking my head at myself. That was nothing more than pure and utter BIGOTRY on our part!!

 

[lisa1.01fvs1]

Upgradable, wow, yowza......I have so many questions for you!

You are so right, how ironic being in your position but also how completely ''balanced'' as well.

This is why I love PS, you just never know the many spheres of influence you can run into.

So did you do any work on the first trimester blood test? I know it''s a composite of HCG, and plasma protein A. This result in conjuntion w/ the NT scores and age scores calculates the Downs risk at this pt. in my pg. Do you happen to know if my vanishing twin material could throw-off the test (more HCG or screwy ppA)? OB says "yes" perinatologist says "no."

I''m just 15 weeks today so I''ll have the triple marker/AFP next week. Could this also be impacted by the twin material? So many questions. AND the biggie how does age play into or not the results?

I was reviewing all my results from my first pg. 2 yrs ago and our #''s were so different. Our Downs risk was like 1/200. Bloodwork alone put us at 1/455. Not sure if the AFP was included in this score. Olivia was a perfect 46XX.

At this pt. we are moving forward w/ amnio in 3 weeks. Do you have any false positve/false negative stats to share about that? From my understanding it''s fairly definitive.

I have read other women''s stories of having a 1/10 Downs risk ratio where the baby was genetically fine.

 

[Upgradable]

I edited into my above post some of the questions you are asking. I had no idea anyone would be back to the thread so fast. I see now that it's better to leave the comments in individual posts, and just hope that interested parties continue to read through the thread.

With two kids, two dogs, and a husband sometimes it takes several hours to make a complete point!!!!

Lisa, I'm going to tell you right now that my medical opinion is going to be tempered with A LOT of maternal experience and hindsight. I hope it doesn't piss you off.

Numbers are nothing more than number! They are not magic, and they certainly are not "a crystal ball." I'm going to use that "crystal ball" analogy alot, so be forewarned!

The bloodwork I worked on was from the 18wk AFP levels that were commonly done in the 1980's to predict neural tube defects like spina bifida. There was some evidence that low levels of AFP combined with low-normal bHCG could indicate a higher likelihood of Down syndrome than just maternal age. It was the correlation of these results that lead to the first "triple blood test" as an indicator for higher incidence DS. I've been out of research a long time, and both my kids are in their teens now, so I cannot commment on what is currently being used and how it is being interpreted, with the exception that it just screens people into an amniocentesis. The amnio is what is difinitive, and it's because it is a genetic test. A YES or NO.

I sometimes get so frustrated with the medical culture of intervening so much and gathering so much data that ultimately is irrelevant! It can quite easily make the mother a wreck when 99% of it is inconsequential. How much stress related complications are caused through all this??? Statistically 25% of all conceptions never result in a live birth. That is nature. There is a reason. Does it help to know what is going on in each and every moment, and watch it like a reality show? Is that going to change the outcome. I personally feel that too much information is often times just TOO MUCH!

 

[Upgradable]

I was 29 when Paul was conceived. I had an early miscarriage (6 wks) and then got preggers with him 3 months later. This was in 1991, so several years after my work at University of Chicago. Hubby and I were also living out in rural Illinois. When I had my initial blood tests done my AFP level was a the very bottom of the normal range. I asked my doctor if we should investigate the preganancy to see if the baby may have Down syndrome (this was before the triple test was commonly used). He rolled his eyes at me and said I was looking for things that weren''t there. So, I put it out of my mind. I never even related the conversation to my husband. After Paul''s birth I was pissed that the doctor hadn''t taken me seriously. This man new me. I was a technologist at his clinic, and he blew me off.

Now..... would it have changed things for me? Yes. I would have had an amnio and known for sure. I would have been a freaking basket case for 22 weeks wondering what was going to happen, what was he going to be like? I may have even chosen to terminate the pregnancy. I honestly don''t know, but I do know it would have been hell for me and my husband!

I found out when I had my wee little Smurf baby in my arms, holding my finger, nursing on my breast. I cried. I grieved. I broke down while watching the stupid "How you bathe your baby" video. I still think I scared my two friends who were visiting near to death! But it was my son, Paul..... not some nameless, faceless, paragraph in a medical text, or the clinical opinion of people in white coats.

 

[Dreamer_D]

Upgradeable thanks for all the information, facinating. Your point that associated medical complications are the biggest predictor of long-term outcomes for kids with DS really makes a lot of sense and is something I hadn''t really thought about. Thanks for everything!

 

[Upgradable]

WELCOME TO HOLLAND
by
Emily Perl Kingsley.

c1987 by Emily Perl Kingsley. All rights reserved

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.

(Emily Perl Kingsley is a writer who joined the Sesame Street team in 1970 and has been writing for the show ever since. Her son Jason Kingsley was born with Down Syndrome in 1974.)

 

[Upgradable]

Here are some recent pictures of Paul: last year''s school picture and a shot outside of our house this summer.

 

[Linda W]

Awwwwwwwwwww, he is so sweet looking Upgradeable and he looks so happy. I just love hearing about him. I just want to give your precious boy a hug.



Linda

 

[SarahLovesJS]

Upgradable Paul is adorable and I love the story you posted about Holland. It''s very inspiring..I think it applies to a lot of areas of life in reality..there are so many times that the unexpected happens, but it can truly be a blessing!

 

[miraclesrule]

I love this thread.

And I love your honesty Upgradable.

I just read the Holland piece last night as I finished Jenny McCarthy''s latest book on Autism. How lucky Paul is to have you as his Mom??? He won the lottery too.

 

[Skippy123]

Date: 10/18/2008 10:01:47 PM
Author: miraclesrule
I love this thread.

And I love your honesty Upgradable.

Me too! You have a beautiful family Upgradable!!!!

You son sounds like such a joy!

 

[Kaleigh]

Date: 10/18/2008 10:05:05 PM
Author: Skippy123

Date: 10/18/2008 10:01:47 PM
Author: miraclesrule
I love this thread.

And I love your honesty Upgradable.

Me too! You have a beautiful family Upgradable!!!!

You son sounds like such a joy!

Me three. Upgradable, your story is so touching. Your son sounds like such a dear one. He reminds me of a friend I grew up with, he was adored by many. Thank you for sharing, it will help many I''m sure!!!

 

[neatfreak]

Paul is so handsome Upgradable! Love his pictures and his story. VERY touching.

 

[icekid]

Upgradeable- thank you for sharing! Down syndrome kids are some of the sweetest I''ve ever met. You, your darling Paul, and your family are an inspiration. Thank you for sharing with everyone; you''ve certainly opened some eyes

 

[Festy]

Upgradable,

Your post is invaluable. We have just started TTC so I am going to bookmark this thread for DH to read if and when we are lucky enough to get PG.

Thank you.

 

[lisa1.01fvs1]

This has been a very valuable thread for me and there is absolutely no "piss-off" material here!

It is so good to read about family functioning and "outcome" since in preggo-land everything is so abstract and theoretical.

Forgive me, but my experience w/ genetic anamolies was mainly with the shocked parents who were in the completely unprepared group with infants who were extremely critical. Perhaps had they pursued ultrasound and had support their initial experience would have been different. Although, I am not familiar with when various congenital problems can be detected (considering that termination is already late after amnio around 19-20 weeks). Would there be enough time to detect problems within the fetus in time for possible termination if going by ultrasound evaluation post DS dx by amnio? In my state 24 weeks is the cut-off, a very uncomfortable cut-off.

In some ways being abstract and theoretical helps clear the mind for what is a huge emotional unknown.