Sarah Defies Gravity

what one little chromosome taught me about love, life, and defying gravity.

Archive for the month “March, 2012”

World Down Syndrome Day: Just the Facts, Ma’am

Today, March 21st, is World Down Syndrome Day. Why March 21st? Because Down Syndrome (or T21) is a chromosomal defect where three copies of the 21st chromosome are present. 3 copies of the 21st chromosome=3/21. Get it?

It’s also an excuse for Dadad to dress Sarah in his alumni colors of yellow and blue (can you guess where he went to school?) but I digress.

I would like to take this opportunity to give some facts and information on Down Syndrome and my wishes for the future of Down Syndrome and for my daughter.

What is Down Syndrome?

Down Syndrome is the most common genetic defect. It is a triplication of the 21st chromosome, also known as trisomy 21. It affects about 1 in 800 live births. Approximately 150 thousand babies are born each year with Down Syndrome worldwide.

What are some of the symptoms of Down Syndrome?

The most common symptoms of Down Syndrome are cognitive delays (learning disabilities), small stature/slow growth, distinctive facial features such as an absent nasal bridge, almond-shaped eyes, a small mouth (sometimes accompanied by a protruding tongue), and light colored (brushfield) spots in their eyes. Other physical signs include a single crease across the palm, short, stubby fingers or a “sandal toe” (large gap between the big toe and other toes). Not every person with Down Syndrome will have every physical feature of Down Syndrome.

What are some health problems that can occur alongside Down Syndrome?

The most common physical health problems that accompany Down Syndrome are heart conditions such as AVSD, ASD and VSD (holes in the heart), conditions of the intestine such as a duodenal atresia (“double bubble”), vision problems such as myopia, amblyopia, strabismus or nystagmus, thyroid problems, low muscle tone, hearing loss, an increased risk of leukemia (but better chances of responding to treatment, and lower risk for other cancers!), or seizures.  However, none of these things are a sure thing. A child with Down Syndrome can be born with many health problems or no health problems, just like a child without Down Syndrome.

I’ve heard Down Syndrome is more common if you’re over 35. Is this true?

Yes and no. Although 80% of children with Down Syndrome (including Sarah) are born to people under 35, your statistical chances for Down Syndrome are much higher after 35. Your chances under 30 are 1 in 1000, which goes up to 1 in 400 at 35, 1 in 60 at 42, and 1 in 12 at 49+.

What causes Down Syndrome?

Down Syndrome is caused by a triplication of the 21st chromosome. Although Down Syndrome is typically a random event, there is one form of Down Syndrome that is inherited.

What do you mean, different forms of Down Syndrome?

There are three different types of Down Syndrome: nondisjunction, Robertsonian translocation, and mosaic.

Nondisjunction is the most common type of Down Syndrome. Approximately 90% of all people with Down Syndrome have this type. This is a straight up triplication of the 21st chromosome. Every cell of a person with nondisjunction Down Syndrome’s body contains this triplication.

Robertsonian translocation and mosaicism account for approximately 10% of all cases of Down Syndrome. Robertsonian translocation is the only kind of Down Syndrome with a heritable component; that is, at least one parent is the carrier of the gene that is passed down and causes this type of Down Syndrome. Robertsonian translocation happens when one piece of the 21st chromosome “breaks off” and attaches to another chromosome. Every cell of a person with translocation Down Syndrome’s body contains this triplication. Mosaicism occurs in a similar way to nondisjunction, however, only some of the cells of a person’s body are affected, whereas some have the standard pair rather than a triplication. Because not every cell is affected, some people erroneously believe that this is a “less severe” form of Down Syndrome, however, this is not true.

So Down Syndrome isn’t a spectrum disorder?

No. Down Syndrome is not a spectrum disorder. You either have it or you don’t.

But I know somebody with Down Syndrome who can do x and y, and I also know somebody with Down Syndrome who can’t do x and y, so the first person is obviously higher functioning.

My fiance can play five instruments. I can’t play any instruments. Does that mean that he’s higher functioning than I am? No…it just means he can play five instruments.

People with Down Syndrome are first and foremost people. As people, they have a wide range of things they can and cannot do. That doesn’t mean that a person with Down Syndrome who can do X and Y is “higher functioning” than a person with Down Syndrome who can’t do X and Y. It just means that they have a different set of skills.

Can people with Down Syndrome learn (read, write, etc)?

Yes, absolutely! People with Down Syndrome may have cognitive delays that cause them to learn slower, but that doesn’t mean they can’t learn at all! With the proper help for them to reach their full potential, many people with Down Syndrome learn to do everything people without Down Syndrome can do, including reading, writing, math, and other academics. People with Down Syndrome can, and frequently do, graduate from high school and go on to college.

What is the life expectancy of someone with Down Syndrome?

Fortunately, life expectancy of people with Down Syndrome have improved greatly over time (in 1980, the life expectancy of a person with Down Syndrome was 25!)  The average life expectancy of a person with Down Syndrome is 50, however, many people with Down Syndrome live into their 60s and even longer.

Do people with Down Syndrome live full and happy lives?

YES! People with Down Syndrome can absolutely live full and happy lives. Many people with Down Syndrome go to college, get married, drive a car, and hold down steady jobs. Although they may require ongoing support, there is no reason why they would be unable to have a full and happy life.

Can people with Down Syndrome have children?

Most men with Down Syndrome are infertile, but women with Down Syndrome are largely considered to have normal fertility, so I suppose the answer is yes. I don’t know of any couples who have Down Syndrome who have had children, though.

I’ve heard that 90% of babies with Down Syndrome are aborted. Is this true?

Again, yes and no. 90% of all babies with Down Syndrome are not aborted; only those with a prenatal diagnosis. This accounts for fewer than 20% of all babies with Down Syndrome currently. However, with new technologies emerging, it’s possible that we could see these numbers increase, which is why it’s important to educate people about the reality of Down Syndrome, rather than just the scary things that they are misinformed about.

What are your hopes for the future of Down Syndrome and how people view Down Syndrome?

I hope that people will eventually stop viewing Down Syndrome so negatively. Down Syndrome is not a death sentence! People with Down Syndrome lead full and happy lives. There’s nothing wrong with having Down Syndrome. Our focus should not be on eradicating Down Syndrome from existence, but instead on promoting education and support for people with Down Syndrome and their families. I hope that someday, there will be no more misinformation about Down Syndrome.

What are your hopes for Sarah, as a person with Down Syndrome?

I hope that Sarah is, above all, treated as a person first. I do not want people to look at her and see a disability and discredit her. I hope that she is able to be a self-advocate, and that she will want to represent people with disabilities and spread the word to change people’s viewpoints on Down Syndrome.

Rabid

Baby-rabid, that is.

I don’t know what it is, but both Dec and myself have been talking about babies a lot lately. More specifically, having another one. Maybe it’s because Sarah’s first birthday is just around the corner–we’ve realized we can survive with a newborn and an older baby with Down Syndrome and we want to do it again.

There’s a lot we have to do before we can think about having another child. Sarah needs to be formally adopted by Dec first. We’re hoping that her BM will sign her parental rights over in late April and then we can begin that process. THEN we have to think about our move back to California. Once both of those things are done, then we can worry about giving Sarah a sibling. So for now, I guess we’re going to have to keep enjoying our little sweetheart and dreaming of someday soon having a little Jace or Dany.

I don’t know if I can handle that.

Divine Intervention

I don’t necessarily believe in God. I was a Christian for a number of years, and while I don’t necessarily harbor any negative feelings or resentment for the idea of religion itself, it’s not something I’m interested in, and I lack any kind of faith necessary for religious beliefs. Or so I say.

There’s a lot of me that wonders if Sarah’s existence was not some kind of divine intervention.  By all accounts, it wasn’t the “right” time for us to have a child, and it certainly wasn’t the “right” time to end up in the situation we ended up in. 

But it worked. And it feels so natural that I can’t help wondering if this is what was supposed to happen, if this was exactly the right time for some sort of divine intervention to step in and rock my world. 

Maybe this is the reason so many parents of children with Down Syndrome believe in God. I don’t want to be trite, I don’t want to say that Sarah is an “angel”, but it still makes me wonder if her existence was a divine message.

A valuable life

As many people know, I am pro choice, and staunchly so. 

I believe that women should be wholly and singularly responsible for the choices pertaining to their body, including making decisions about whether to continue a pregnancy. And that includes making choices pertaining to prenatal diagnoses of special needs like Down Syndrome.

But I’m also the parent of a child with special needs, so on an emotional level, i perhaps feel a little different than I do on a logical level.

I support the legality of abortion. I believe that women are intelligent human beings capable of making decisions for themselves.

But I also think that people with Down Syndrome have a life worth living; a valuable life.

I don’t wish that abortion for Down Syndrome were illegal. I don’t wish that people who have abortions for Down Syndrome were punished.

What I wish for is that people would stop thinking they knew what Down Syndrome was like when they really have no idea. 

What I wish for is that people would stop talking about Down Syndrome like it’s the end of the world. Like it’s painful. Like it’s fatal.

Down Syndrome is not fatal. Down Syndrome is not painful. Down Syndrome does not mean that you cannot learn, that you will not get married, that you will not have a career or go to college or play sports.

People with Down Syndrome are, first and foremost, people. They have human desires, human thoughts and interests and feelings. They go to college. They are prom queens and kings. They play sports. They get married. They have careers. They drive cars. They are actors and actresses, writers, musicians, and artists. They live happy, full, healthy lives.

The people who know or are related to people with Down Syndrome consider them to be some of the best people in the world. While they may not be always happy, as the stereotype goes, they have a special kind of love, a special kind of vibe, that is unlike anyone else. 

That 47th chromosome contains extras of all of the good stuff that humanity has to offer: extra joy, extra love, extra enthusiasm, extra determination, extra rhythm, extra boogie. It’s not something less, it’s something more. People with Down Syndrome don’t lead emptier lives, they lead fuller ones…and make the lives of everyone around them fuller, too.

Spreading the Word to end “The Word”

Words hurt.

You know that adage “sticks and stones may break my bones, but words will never hurt me”?

It’s bullshit.

Words are some of the most powerful weapons there are. Words have started wars, incited violence, and caused people–innocent people–to harm or even kill themselves. Words hurt, period.

And that includes the R-word.

It’s not cute. It’s not funny. It’s not “cool”.

It hurts. It hurts Sarah and every other child like her, who marches to the beat of their own chromosomally enhanced drum. It hurts me on behalf of my sister, who once told me that she didn’t like hearing that word because it felt like the other kids were saying that it was bad to be like her. It hurts people with autism, with cerebral palsy, with TBI, with dyslexia…it hurts anybody who is a little bit different, who has to work a little bit harder, but who is worth every bit as much as anyone else.

You might think it’s okay. You might think it’s “just a word”, that you don’t “mean it that way”, that I’m “too sensitive”. But let me tell you something.

When you say that word, I picture my daughter. I don’t hear “You’re so retarded” or “that’s so retarded” or “you’re a tard”. I hear “That’s so Sarah.” “You’re so Sarah.” “You’re a Sarah.” I hear “That’s so Hannah.” “You’re so Hannah.” “You’re a Hannah.”

I picture you saying it right to their faces. I picture you looking at my sweet, bubbly baby, my sister, who loved every person and dog she ever met as if she’d known them her whole life, and I picture you saying those words to their faces. It’s not just a word. It’s an attack. An attack on the most vulnerable, most innocent members of our society, and it’s not fair. It’s not right.

You wouldn’t call a black person a “nigger”. You wouldn’t call me a “fag”, or a lesbian a “dyke”. You wouldn’t use those words to mean bad or wrong or stupid, either. So why would you call someone a retard?

Today, I’m asking you to make a lifestyle change. I’m asking you to go to http://www.r-word.org and take the pledge–for today and every day–to eliminate that word from your vocabulary, today and every day. It doesn’t take much, but you can change the world just by changing your words. Do it for Sarah. Do it for Hannah. Do it for the hundreds of thousands of people in this country like them. They deserve better.

Waiting for the big moments

That’s what I feel like I do, in blogging. I keep thinking “oh, I’ll make a post” and then changing my mind. 

Life is full of big moments, though, even when they seem pretty small. I’ve been enjoying being a parent lately, and trying not to obsess as much…it’s like a New Years resolution 2 months late. I feel like I need to let Sarah be Sarah, and not push her so hard, because my motivations weren’t exactly pure or good. it wasn’t about making Sarah be the best she could be–I started pushing for Sarah to “catch up” to her neurotypical peers, and we both started suffering for it. So I’m taking a step back. Sarah will do the things that Sarah wants to do in Sarah’s own time, with the assistance of our fabulous team. No need to push her…she’ll get there.

We’ve basically decided we’re going back to CA, by the way. Maybe even earlier than we had initially anticipated. We really do love it here, but my sister’s death made it really hard for us to fathom being so far away from our families. It made us realize how much we valued having his parents down the street and my parents only a two hour drive. We were supposed to stay here for two years, but we’re thinking of heading back in late August, after the summer program ends at DF’s work. I guess we’ll just have to see.

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