What it is like to have a sibling with Down Syndrome – the real answers

Mr B and I had the chance to go to a three-day seminar in Stockholm WITHOUT kids. Come to think of it, that was the first time we got away without the kidlets since Edgar was born – and he just turned four…
The seminar was about Down syndrome and with amazing speakers such as Dr. Brian Skotko and Göran Anneren, a famous doctor in genetics who has done marvellous things for people with DS in Sweden since the early 70s and some other DS researchers from Sweden. Dr Skotko who I heard of soon after Vincent was born  and to be able to meet and listen to him this past weekend was simply amazing and inspiring. Dr Skotko has done a lot of research about DS, about siblings of people with DS, about parents to children with DS. What he has done is given a voice to real people living with Down syndrome and challenging the stereotypes of Down syndrome with answers from the people actually living these lives and the people who have the experience. Along with that he has published like a trillion articles, written books and is also the co-founder of the Down syndrome clinic in Boston, MA. So to have the opportunity to listen to Dr Skotko and Anneren for days in a row was a pure pleasure.

The research presented is about what it is like to have a sibling with Down syndrome, what it is like to be a parent to a child with Down syndrome and most importantly maybe, what it is like to have Down syndrome. All very interesting topics, especially as the answers put out by society seems to have been formed by people NOT living these lives and mainly by people not equipped with real information rather than stereotypical thinking of what they believe to be correct. Research clearly shows there is a huge divide between the two.

I am going to divide this up into a few different posts in order for it to not be too long! First of is:

What is it like to have a sibling with Down Syndrome?
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97% love their sibling with DS, 94% of them are proud of their sibling with DS.
About the 7% who feel embarrassed about their sibling with Down Syndrome, and the 4% who wish they could trade in their sibling with DS, the real interesting answer would have been to see what siblings to kids without DS would have answered. I am rather confident that number would at least have been the same, likely even higher.

 

What about siblings and social life when having a brother or sister with Down syndrome:

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9 out of 10 say their friends are comfortable with their sibling with Down syndrome.

 

What about having a sibling with Down syndrome and family life? One of the most popular answers to why people choose to terminate their pregnancy when finding out the baby they are carrying has DS is because they feel it will put an unfair burden on brothers and sisters in the family. Here is what it is really like:
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All of 88% actually feel like they are BETTER people because of their sibling with Down Syndrome. And 91% feel thay have a good relationship with their sibling with DS. I dare say I believe that less that 91% of the general population is happy with their siblings…

 

What about the level of involvement when having a brother or sister with Down syndrome:
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15% of the siblings felt they were asked to do too much for their sibling with Down syndrome. Sounds very reasonable, and is probably similar to how many siblings feel to brothers and sisters without DS too. Unfortunately I have no real percentage of that.

 

What about life lessons learned when having a brother or sister with Down syndrome:
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So important! To tolerate each other and to never give up,along with the ability to love and forget, what else really is important to teach each other?

 

Translocation 21;21

If you have come here by Googling Translocation, Robertsonian translocation or Robertsonian Trisont, the old yahoo group Translocation 21;21 has moved to facebook.
Search for Translocation 21;21 (T21;21). Leave me a message here if you can not find it, and I will add you!

Vincent

Vincent is doing great. He just wrapped up his dance class which he enjoyed a lot. He is still doing swim classes and has private classes twice a week. He can swim a few meters alone and he jumps off the little jumps in the water, pushes off from the bottom and swims back to the side and climbs up and jumps again.
He still has his 4 therapy sessions a week at KiGa and he is moving along there too. Speech is the main thing of course, but he is learning new words and he is more communicative to people. 

We have all our DVDs on an external computer drive as the kids were just scratching the DVDs up and it was a constant mess. The bad part is that I have to try to figure out what they want to watch (actually what Vince wants to watch all Edgar watches is a documentary with Willie about hospitals…). This morning Vince got really mad at me. He told me he wanted to watch a movie, and explained TREE, REPAIR MAN, WOLF, AXE, MONSTER and DANCE. I had no clue. I tried a few and he got more and more mad telling me the same things over and over again. As I turned on another movie there was a preview for the movie Vince wanted: Beauty and the Beast. Well of course, the dad is the inventor who uses a lot of tools. He gets lost in the woods while on his way to a inventors contest (or something) with his wood chopping machine which has an axe.  In the woods the wolves are coming. The father ends up with the monster/beast and in the end Belle and the beast are dancing. But to get to that point he was really furious for a good 10 minutes before I finally got what he was saying all along.  

Next week is a big week. Vince and I are flying to Sweden on Saturday. On Wednesday we have a meeting with Vince future school, principal, teacher, therapists and the responsible person from the city. I am nervous, anxious, freaking out and excited. We have chosen a regular school at this time. I think we are satisfied with the choice and I am starting to have a lot less panic attacks about the subject.

We will also meet with Vince new therapy team in Sweden next week and I am excited about what they have to say and what they propose for a therapy plan. More than a bit nervous about this actually…

Hopefully we will also be able to see the place where we will live, there are some kinks, but they should be solved by mid February.

Dance Class from a few weeks ago. The kids were doing a lot more when us parents were not in the room, we know cause we usually watched the sessions through the key hole in the door in order not to interrupt them.

Vince thought I was taking a picture instead of filming with my camera, hence the cheese stand still look.

So Proud

Vince and I drove to Leoben and the Down syndrome Center there today. I made the appointment last December, and this was the first available time we got. They are busy to say the least. We have been going about every 12-18 months to do a developmental diagnostic (it is a picture link so you do not have to know German but can see a few things of what is done).
The difference to going here vs. going to the hospital’s developmental testing facility is that of course these people are experts on Down syndrome and the way kids with DS learn. The environment is also a lot nicer and I am happy not to get Vincent categorized into an age on every skill he has or has not. I like that the look at the kid and see what he can instead of taking some norm and saying this is what a five-year old should know and your kid is performing at so-and-so many months,which can lead to a lot of heart ache, sadness and unnecessary pressure.

So about my Vince! I am so proud of him! I was not part of the testing as kids almost always perform better without being interrupted by their parents).
He got excellent score on: Eye contact, imitation, body knowledge (knowing how many eyes, ears, nose, feet etc he and others has), eye-hand co-ordination, applying right amount of strength during different exercise (not pushing the pen to hard, when building w blocks etc), speech understanding, categorizing and inductive thinking, visual thinking (following a pattern), room orientation, following oral instructions (!).

He scored OK on pincer grip – he prefers to use his middle finger still, but knows how to use the index finger, we work on this, closing his eyes on prompt (apparently has something to do with learning to count ?), counting – he counted to three with his fingers in there but would not say a word, phonetic differentiation (following syllables, rhymes and sounding) and following more than two oral orders given at the same time.

Areas to work on are of course speech, no surprise there. He spent three and a half hours in there and did not say a single word or sound. When he saw me he ran up to me and counted to five (in German), told me about a tractor and a rabbit (which they just had played with) and asked for cheeseburger…. It was funny as they all heard it.

A new thing I was not aware of was that they could not say if he is right-handed or left-handed. Not that it matters which ever, but it is good that he picks one rather than both. He crossed over with both hands reaching for toys, he held on to building blocks (enforced them) with both sides as a helping hand and he apparently used both hands for coloring and writing too. So we got a check list of things to observe for a month and see what side he mainly uses.

He also kept mixing up red and blue when asked to bring a red or blue toy. That surprised me, you know fire truck and police car colors? He got all types of other colors like pink, purple, turquoise, gray and beige right, but not red and blue. But only when asked orally, when it comes to sorting them he got it all right.

AND somehow he knew how to READ five words. I have no clue how he knew that. Mom, dad, baby, Vincent and Fire truck. I am amazed. So we got a lot of tips to continue with the early reading. I have been wanting to do that forever, but you know, somehow regular life and the other million things I wanted to do got in the way. But from now on we will try to incorporate that into our day.

If you live in Austria and have a chance to go to Leoben, you really should. It is great. I got so many tips and tricks today and the written report will be mailed to me within a week. It is also so nice to be at a place where you are not risking having your support being withdrawn just because your kid performs well, which I always have a feeling of when being diagnosed by the city or hospital.

31 for 21: Day 31

This should be the post where I make some great connection and pull it all together nicely. Or maybe where I say something that my kid was angel sent to me? Or where I explain how extraordinary he is?

But I will not. Not because he is not, because both my kids are awesomly awesome and extra cool. That has nothing to do with the number of chromosomes, they are cool and perfect to me because they are mine.
Sure the DS stresses me out on certain levels. Current stress factor number one is school. But then I realized that seems to be the case of most parents who will be sending their kids to school next fall, at least in our KiGa where the hype is what school is best and why.
So I am not alone in stressing about school because my kid has DS, I am stressing because I am a mom. And I must say it has been nice to get the DS wake up call that maybe performance and elite schools is not the only thing that matters in life. I am thankful for an education where all individuals are valued. Where inclusion is understood and practiced and where effort is being made to educate of emotional intelligence too.

I am also not going to tell you how fab having a kid with DS is, because it is not more or less fab than having a kid without DS. Honestly. They do all the same things; good and bad. Edgar might be slightly worse at the moment. (Hand washing in the toilet, dropping things in the toilet etc you get the idea).

But I will leave you with this that I again found on Michelle’s blog:  
Many news stories from the last few weeks where DS has been in focus: Parents, Siblings, and People With Down Syndrome Report Positive Experiences. More on this study: Down Syndrome’s Rewards Touted as new Test Looms, Inspiring Portrait of Down Syndrome at Odds With Perfect Baby Pursuit, and Down Syndrome Awareness Makes A Difference.

Most important to me is this part, which were answered by adults with Down syndrome:

 “99 percent responded they were happy with their lives, 97 percent liked who they are, and 96 percent liked how they looked.”

Would you say the percentage is as high for people without DS?
Just sayin’, so do not give me any ideas about people with DS not being able to live life to the fullest, or that they are not happy, and also please do not associate this with people with DS are always so happy and they are so full of love, I promise to put a post about the opposite some time featuring my son. Instead please see this as it is, people with DS are actually happy with where they are, what they do and how they live. And also keep in mind that these were all adults with DS, the new generation will go much further, only the sky is the limit.


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31 for 21: Wanting ‘Normal’?

I am not sure I ever blogged about prenatal testing and screening for such things as Down syndrome in pregnancy. So let me tell you what I did in my two pregnancies.

With Vince, my first pregnancy we lived outside Detroit, MI. I was asked if I wanted any testing and a number of brochures were put in front of me. I decided on the triple test (combined ultrasound/blood screening test). Everything was perfectly fine. As I knew it would be before I even took the test. In my mind the test was simply done to put yet another check mark next to some check up point in the pregnancy to do list. See I was young, only 27, thise things only happened to older people. Or at least not me.

I am VERY thankful for the erroneous results as this allowed me to fully enjoy the magic only a first pregnancy can bring. Naturally, I was TOTALLY in shock when I was told three days after birth that most certainly did our son have Down syndrome.

With Edgar we had a different strategy We were both aware of the possibility of one of us being a balanced carrier of the translocation 21;21 gene (in the sex cells as we had blood tests that showed we were at least not carriers in all blood cells – you can read here about what I am talking about). We decided against any prenatal testing, as it would not make a difference. What we did do was having an advanced organ screen to see if there were and organ issues that would have an impact on which hospital we would do the birth at (i.e Linz for heart issues, Graz for stomach etc). Everything was fine during the screening.

I understand that getting a positive test result during pregnancy is devastating. I understand that many people choose abortion, but I understand this only because it is based on information that is most often given by people, most often hospital crews, who are delivering not up to date information and sometimes not true information. I loved this The Perks of Down syndrome  that I read this morning from Michelle (please click and read, she puts it very well), first a list of all that MAY or MAY NOT happen to your child, but then a list of things, all positives on what WILL happen to you and your child.

I am certain that if the right information would be available to pregnant women finding out the baby they are having has Down syndrome would be a lot lower than the current termination rate of 90% (meaning 90% of people who are pregnant and find out their unborn child has DS choose abortion) had they only had access to the right information. That is just sad.

Now I am getting to my point. Apparently we want to have ‘normal’ children. We as in society. There are a lot of discussions, TV shows, articles etc about this. Recent scary documentation from Denmark shows that by 2030 no one will be born with DS due to heavy prenatal testing and very high termination rates. That scares the crap out of me. Still it is there. I read stories in the newspaper and I am scared of the comments in the comments section arguing most often for that these individuals just cost money, can’t live their lives to the fullest, are a burden and on and on and on. And there are the natural number of pure jackasses that you just have to ignore due to their own stupidity. Still words hurt.

I was riding the bus home after my colonoscopy this morning (which by the way was fine), about half way home a man came on the bus with his assistant, helper, not sure what the correct word is? I sat right where he stood, and asked if he wanted to sit down? I could tell he had some kind of something (lack of a better explanation?). He wanted to stand. Than he turned to me and we started talking. He spoke very slowly and his articulation was pretty off, and he was mumbling. He told me he had been in an accident. When he was 14 he fell out of a window and fell 12m to the ground. He showed me how he could only move his right had by lifting it with his left hand. He also walked very slow and with a limp.
He told me that he was on his way for a milkshake and hoped to meet a girl. I told him to try finding one via the internet which he liked the idea of. He told me he had gone to Hirtenkloster, the school we are thinking about for Vince, and he told me he worked in an arts and crafts place for adults with special needs.

I do not know the details of his accident.
He did tell me he was ‘normal’ before the accident, and he had gone to one of the prestigious private schools in Graz.
He is 34 now, he told me that.
He does not have Down syndrome.
No prenatal testing would have shown anything out of the order.

My point? You can choose to eliminate your baby at 20 weeks, or maybe up to 25 weeks into your pregnancy if you want to. Apparently that is the law, and therefore your right as a citizen in some countries. But the test does not protect you after birth. Life is there and accidents can happen to anyone. Vince birth has affected my friends in, to me, a very positive way. Many have told me that they have chosen not to do prenatal testing because it would not matter to them. It warms my heart. And it warms my heart even more when they tell their friends and spread the message. Prenatal testing is available but before you do it, think of why you do it and what you would do with a possible positive result. When are you willing to give up your baby? Because it has DS? What about if your kid turns out ugly? Or with huge ears? Or what about if at 14 years of age, your kid no longer can continue its previous ‘normal’ life and at 14 years of age becomes a ‘total care package’, would you give it up then?

21 Things About Down Syndrome

1. Down syndrome is simply when you have three of chromosome 21, hence the name Trisomy 21

2. The name Down syndrome comes from the man John Langdon Down who first described the syndrome in 1866.

3. DS is a chromosomal condition, it is NOT a disease. People with DS are not sick unless they have a cold, the flue or whatever. They are healthy. When referring to people/kids around someone with DS, do not refer to the others as healthy. That is rude and simply not true.

4. People with DS do not suffer more than you or I. DS does not hurt. Remember, no one is sick.

5. DS is not related to race, nationality, religion or socioeconomic status.

6. People with DS are more alike people without DS than different.

7. DS is usually caused by an error in the cell division. It is not known why this occurs.

8. Although DS increases with an older maternity age, 80% of children with DS are bon to women under 35 years of age.

9. Most children with DS attend the school in their regular surrounding, some in regular classes some in special education classes.

10. There are four types of DS: non-disjunctional (free trisomy 21), mosaic, translocation, and partial DS.

11. If you were to do a blood test of a greater portion of all your blood cells you would find that also you had cells with three of chromosome 21.

12. Life expectancy for people with Down syndrome has increased dramatically in recent decades – from 25 in 1983 to 60 today.

13. A few of the common physical traits of Down syndrome are low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm. Every person with Down syndrome is a unique individual and may possess these characteristics to different degrees or not at all.

14. All people with Down syndrome experience cognitive delays, but the effect is usually mild to moderate and is not indicative of the many strengths and talents that each individual possesses.

15. People with Down syndrome have an increased risk for certain medical conditions such as congenital heart defects, respiratory and hearing problems, Alzheimer’s disease, childhood leukemia, and thyroid conditions. Many of these conditions are now treatable, so most people with Down syndrome lead healthy lives.

16. People with DS are not always happy, loving and smiling. Believe me. Or come to my house and see for yourself.

17. There is wide variation in mental abilities, behavior and physical development in individuals with Down syndrome. Each individual has his/her own unique personality, capabilities and talents.

18. 30% – 50% of the individuals with Down syndrome have heart defects and 8% – 12% have gastrointestinal tract abnormalities present at birth. Most of these defects are now correctable by surgery.

19. Individuals with Down syndrome benefit from loving homes, early intervention, inclusive education, appropriate medical care and positive public attitudes.

20. In adulthood, many persons with Down syndrome hold jobs, live independently and enjoy recreational opportunities in their communities.

21. Living life with a child with DS is really not that different from living a life with kids without DS. Remember, we are more alike than different.

Facts from www.ndss.org, www.nads.org, www.ndsscenter.org


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31 for 21: Day 4

Because I get a lot of emails and mainly a lot of search hits on  translocation inherited down syndrome, robertsonian translocation, translocation 21;21, I will start with Lynette’s question:

Where did you find information on this type of translocation?

First of all let me explain what it is: Translocation Trisomy 21;21 is a form of Down syndrome. In this specific case, two 21 chromosomes have grown together and a third 21 chromosome has joined, therefore causing Trisomy 21 (three of chromosome 21) also known as Down syndrome.
What is so unusual about this specific type is that if the mom or dad is a carrier of the two grown together 21st chromosome (so-called balanced carrier), there is a 100% outcome of Down syndrome with each pregnancy. There is no other way. If the egg and sperm fuse, the embryo will have Down syndrome.

Translocation Down syndrome is the form that CAN be, but NOT ALWAYS is inherited.
Translocation 21;21 is very unusual, and it also does not mean that you have to be a carrier. With the people I have come in contact with, almost all cases have been not balanced carrier. The easiest way to find out if you are a carrier is:

a) if you already have a child without DS prior to your DS translocation baby. But this only holds true for Translocation 21;21 (you can also have a DS translocation, 13, 14, 15 and 22, all these are more common that 21;21). By having had a child without DS and then one with T21;21, you can automatically exclude the possibility of you or your partner (assuming the children have the same parents) as if you were a carrier all babies would have had to have DS T21;21.

b) Simple blood test done at the genetics office. Think about this if you decide to do it. Are you fine with finding out the answer? Many individuals choose to do this because of siblings as if you are a balanced carrier there is a great chance/risk that your brothers/sisters also are.

c) There is still a possibility you are a carrier even if your blood test is negative. This is referred to as Gonodal Mosaicism Down syndrome. What it means is that you or your partner is a balanced carrier but only in the sex cells (sperm or egg). I have met only met one family with this type of T21;21. It is very unusual.

It is true, there is not a lot of information out there on translocation. A lot of the useful information I have found I have included in this posts. I will also relist it here again:

1. The 2010 version of Translocation Trisomy 21;21 (incl. karyotype of T21;21)

2. A little more info on Translocation 21;21

3. Should have Played the Lottery (results of our genetic testing)

4. Translocation Trisomy 21/Robertsonian Trisomy 21 (incl. karyotype of T21;21)

5. Translocation 21;21/Robertsonian Translocation (also containing info on joining the T21;21 yahoo interest group)

6. More info on the yahoo Translocation 21;21 group

7. Finding out Vincent has DS (Bonus entry)


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About bilingualism

A friend posted a link to a very interesting article on FB. The text is from The Guardian/The Observer from June 12, 2011. I find it extra interesting how neuroscientist Ellen Bialystok talks about increase in cognitive ability for people being bilingual and more specifically so the research she has done on Alzheimer’s patients. Alzheimer’s is like Down syndrome impacts on the 21st chromosome. And yes, you can bet I will print this out and shove it under the nose of every future ‘expert’ who discourage us to raise Vince with three languages.

Ellen Bialystok: Bilingual brains are more healthy

Looking at Alzheimer’s patients, Canadian neuroscientist Ellen Bialystok finds that people who speak two languages cope significantly better with the disease.

Ellen Bialystok is a cognitive neuroscientist whose research has shown that speaking two or more languages on a regular basis from a young age can have a positive effect on the brain. Not only does it enhance cognitive abilities, being bilingual can also delay symptoms of Alzheimer’s disease. Bialystok, 62, is a distinguished research professor of psychology at York University in Toronto, Canada. Last year, she was awarded a $100,000 Killam prize for her contributions to the social sciences.

 

What was the first indication in your research that bilingualism had neurological benefits?

It came from children’s ability to understand the structure of language as well as the meaning. This is called metalinguistic knowledge, and it’s the key to using language for learning, for literacy, for thinking, for logic. To assess how far along they are in metalinguistic development, we would ask children between the ages of five and nine to judge whether or not a sentence is grammatically correct, however nonsensical it may be. The example I use is: “Apples grow on noses.” It’s very hard for kids to say that’s OK grammatically: they want to tell you that apples don’t grow on noses. We found that bilingual children were better able to do this.

Why?

It relates to the essential problem of bilingualism. When a bilingual person is speaking in one language, research shows that the other language is active in his or her mind. That creates a problem: how do you select from the language you need without this other active language getting in the way? In my view, you incorporate a cognitive system called the executive control system, whose job it is to resolve competition and focus attention. If you’re bilingual, you are using this system all the time, and that enhances and fortifies it. And that’s why bilingual children can say that “Apples grow on noses” is said the right way: they are accustomed to resolving the conflict between form and meaning.

Metalinguistic superiority aside, what other advantages are there?

The cognitive enhancement across the life span of a bilingual person is quite dramatic. It turns out that something as ordinary as speaking a couple of languages reconfigures the brain network in a way that positively affects certain things that brains do.

Can you give an example?

We did a study at the Baycrest geriatric centre in Toronto in which we identified 200 clear cases of Alzheimer’s disease and looked at the patients’ backgrounds to see if they were mono- or bilingual. Then we looked at how old they were when the family noticed something was wrong and when they were formally diagnosed. In both cases the bilinguals were significantly older, by about four years. We repeated that study using another 200 patients and got identical results.

What conclusion did you arrive at?

It was possible that bilingualism protected the brain and they didn’t get Alzheimer’s disease as soon, but I never thought that. We did a second study with 20 monolinguals and 20 bilinguals, all about 75 years old. They had all been diagnosed with Alzheimer’s, and they were at exactly the same cognitive level, so you would expect them to have the same level of damage in the medial-temporal cortex. But when we looked at their brains, we found that the bilinguals had significantly more damage than the monolinguals. They had more advanced Alzheimer’s but they were functioning at the same level. That’s the advantage: they could cope with the disease better.

Do you have to be bilingual from a young age to experience cognitive and health-related benefits?

It’s very hard to know. My view is that late-life language learning is probably beneficial, not because of bilingualism but because learning a language is a stimulating mental activity and a good way to exercise your brain.

Are the benefits cumulative? If you speak three or more languages fluently, will you be three or more times better off?

There are hints of evidence supporting the idea that three languages are better than two. But here’s the problem. The vast majority of bilinguals did not choose to become bilingual because they had a talent for languages: they became bilingual because life required them to. Trilingualism is usually more of a choice, a luxury option associated with intelligence, language talent and education. The benefits are more difficult to measure.

In Britain, we are notoriously bad at learning foreign languages because we have English to rely on. Does this mean that nations that do not speak a globally recognised language have healthier brains?

That’s the logical prediction but the reality is much more complicated. When we do our research we go to great pains to make sure that the people in the two groups are the same on everything else we can think of measuring. When you move across nations, you have national differences in wealth, education, social circumstances, health, etc, that contribute to healthy ageing, for example, so finding a difference between two nations is very difficult.

Should curriculum setters take notice?

Language should be a central part of the curriculum but not because bilingualism postpones the onset of dementia: any intellectually engaged activity requiring intense involvement will keep your brain healthy. Learning other languages is important because it helps you understand other people, other cultures, other ways of thinking. Even if it didn’t change your brain, there are just so many benefits.

Happy World Down Syndrome Day

Today we celebrate people with Down Syndrome. March 21 is a special day for us and the thought was for Vince and Edgar to wear their new DS Awareness t-shirts to day care. However, that thought halted pretty fast when it turns out Vincent has red spots all over himself. I saw one last night and figured it was a mosquito bite (I know in March…). I am pretty sure it is chicken pox, we have a pediatric appointment at noon to follow-up on. In the meantime Vince and I will scan the house for a camera so we can capture the rest of the day. Regardless of the chicken pox (or whatever it is) we are still having Swedish pancakes for dinner and making a cake!

And while you wait for the follow-up, why not take a look at this happy clip?