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August, 2013

Does Down Syndrome Need Fixing?

2013-08-15
By: Christie Hoos

Ed. Note: The following post is one parent's response to the recent news of a breakthrough in genetic research with regards to the triplicate 21st chromosome that causes Down syndrome. We recognize that this is a complex issue that has raised many hopes and just as many fears, and that people within the Down syndrome community have a variety of perspectives on this issue. The opinions shared in this post are the author's alone, and we have included links at the bottom to several other articles that take varying positions. DSRF's official response to the news can be found here.

You are not broken, sweetheart.

At least, not in any way that really matters. Not like people who are spiteful or small-minded or utterly self-absorbed. I hope the day never comes that you suspect “special” is a code word for defective. Or that having “needs” is a shameful weakness.

There are people that think this way. Ignorant people who simply don’t understand. Cruel, stupid people who simply don’t care. Less than there once was, but still… too many people.

Part of me wants to take a swipe at anyone who suggests you need fixing. To crouch in front of you and bare my teeth and unleash my primal maternal instinct on them all. Because the possibility, the mere hint of the idea that you are less than anyone else is repugnant.

You are different, sweetheart.

This is the truth. You work harder than anyone else around you. So many skills and activities which other people take for granted are a real struggle. Your health has to be monitored closely as you contend with a number of medical problems and risk factors. It takes longer for your brain to process the words you hear and the memories you are trying to recall. Your best efforts don’t always make the words clear enough for us to understand. You are often frustrated and overwhelmed.

I want to fix that for you. Not because you are less; because you deserve more.

You are so precious, sweetheart.

Your sense of humor and your kindness and your stubborn will come to mind. And so many other wonderful qualities too numerous to describe here. There is no one in all the world like you. The world may look at you and see Down syndrome. I look at you and see… you.

Down syndrome is part of your story. Maybe you wouldn’t be quite so exceptional if you didn’t have all these struggles. This reality has significant challenges, but there are gifts also. One extra chromosome has not been a tragedy for you.

You are so precious, exactly the way you are, sweetheart.

So when I was asked to speak on a radio talk show this week (CBC Radio – The Current) about breakthroughs in genetic research (Researchers turn off Down syndrome genes), it was harder than I expected.

Of course when the news agencies use provocative words like “eradicate Down Syndrome” it conjures up thoughts of Nazis and final solutions, not dedicated scientists striving to make the world better for you. Of course I have reservations about safety and risk factors. Of course I hope that the professionals involved will continue to be respectful of our children’s needs, and strengths. Of course I wonder if this is yet another false hope alongside the dubious therapies and vitamin regimes often peddled to desperate families.

But after a deep breath and a closer look, I realize that it is incredibly good news.

I’m thrilled about the possibilities the future might hold. Targeted therapies which ameliorate the harmful, even life-threatening effects of Trisomy 21 are more possible than ever. Research may not translate into reality for many, many years, but it isn’t overly idealistic for me to hope that early onset dementia (which affects 60% of adults with Down syndrome by age 60) will not be a problem for you. After all, they still have 52 years to figure it out.

So why the difficulty? Why a panel to express a range of opinions? What could possibly be controversial about this?

We all agreed, from Dr. Jeanne Lawrence (the head researcher who now has a HUGE fan in me), to the show’s host, to the rest of the panel, that anything which leads to longer, healthier lives for people with Down syndrome is a wonderful thing.

But it always comes back to the question:

What if we could “fix” Down Syndrome entirely?

(We can’t, by the way; the geneticist made it very clear that while the research makes the treatment of symptoms of Down syndrome a possibility EVENTUALLY, eliminating it entirely via gene therapy is extremely implausible.)

Nevertheless, this is where controversy finds the most traction. Is Down syndrome a problem to be fixed? Or is it a part of our genetic diversity to be embraced?

There was a mother on the other side of the country, and the other side of the argument presumably, who was on the air with me. We don’t disagree about much. I appreciate her viewpoint and share her enthusiasm for the unique Down syndrome culture that has emerged in recent years. It makes me happy to know that you’re a part of it.

People with Down syndrome are worth celebrating. They are a remarkable group of unique people who share a common struggle. Some lead meaningful, rewarding lives. Some don’t. Some are kind, affectionate and openhearted. Some aren’t. Some are funny. Some are serious. Some are sociable. Some are shy.

None are pitiable creatures to be patronized, nor angels to be revered. First and foremost, they are individuals who each have their own story. They are not extraordinary because they have Down syndrome, but because they overcome and thrive and contribute so much to the world. The Down syndrome community is inspiring.

But Down syndrome itself is not something I celebrate. As grateful as I am for the many positive aspects of our experience, it is a medical condition that needs treatment, just like diabetes or asthma. So when asked if I would eliminate Down syndrome if I could, my answer is yes.

I would choose this for you, sweetheart.

I am so proud of all the challenges you overcome almost daily, and of the person you’re becoming because of it. But I would bulldoze every one of those obstacles if it were in my power. Life is hard enough.

There was a time when a child with Down syndrome was considered a hopeless case, when parents were encouraged to stash them away in an institution and try again. There was a time when children with Down syndrome wasted away and died due to a number of undiagnosed medical conditions. There was a time when children with Down syndrome were not expected to learn or participate or reach any level of independence.

We’ve come a long way since then. I can only be grateful for the research that has brought us this far; not just the education and social support, but medical science also. Now minor heart defects and thyroid deficiencies and a host of other problems are detected and treated as a matter of course. Maybe someday, speech delays and low muscle tone and leukemia will be dealt with as efficiently. And maybe someday, Down syndrome itself will be little more than a passing mention in a medical history.

I want that. For you and for the children with Down syndrome who haven’t yet been born. But it was hard for me to express that, both on the radio and here in the blog. Because I don’t want you to hear me wrong.

You are not broken, sweetheart, not in any way that really matters.

You are different, sweetheart, and life may never be easy for you.

You are so precious, sweetheart, exactly the way you are.

So here’s us, grateful for what is, and grateful for what could be, just as long as it involves many, many years with our sweet girl!

To follow Christie's blog, click here.

Below are links to other articles on this subject. As always, the views expressed in these sources are the authors' alone.

DSRF's Response

Before we silence Down syndrome, shouldn’t we try to understand it better?

Three Reasons Why We Might Not Want to Cure Down Syndrome

CBC Radio Interview with Christie, another parent, the lead researcher and an individual with Down syndrome

Surprise!

2013-08-08
By: Cyndi Johnson

Last August when I searched the yellow pages for dance classes for my 4-year-old daughter, Rebecca, I had no idea of the surprises that lay ahead.  I picked up the phone and called one of the numbers listed.  “Do you offer classes for preschoolers?”  The answer came, “Oh yes, we have a combo class…”  But the tone changed dramatically when I asked if they could accommodate a child with Down syndrome.  “No, we can’t…”   I dialed a second number and then a third, but the response was the same each time.

Determined, I dialed yet another number.  “Do you have any openings for a 4-year-old girl?”  When the instructor indicated there were spots available in her preschool class, I simply said, “I’d like to register my daughter…”

I did not mention Down syndrome during the phone conversation but decided to go early to the first class to speak with the instructor directly.  When we arrived, you could have toppled the instructor with a feather.  There stood Rebecca—tiny for her age due to her medical conditions—in her pink leotard and tutu, clutching her ballet slippers and tap shoes, her eyes sparkling through her glasses.  The instructor broke the silence, “She can’t possibly be 3 yet,” to which I replied, “Rebecca actually turned 4 a few weeks ago and had a ballet birthday party!  She dances every day.  She has some issues like low muscle tone and hearing loss, but I believe she’ll do fine.”  The instructor began lecturing me on how Rebecca must listen and behave appropriately if she was to participate, when in walked another mother with her daughter.

What happened next took everyone by surprise.  This little girl also wore a pink leotard and tutu, but she shared something else in common with Rebecca.  It was obvious that she too had a disability—some physical limitations and eyeglasses with thick lenses.  The expression on the instructor’s face turned from surprise to resignation, and she directed the girls to choose a colored square on the studio floor and have a seat.

Other girls arrived, and class began.  Rebecca followed directions, waited her turn, and even put on her own tap shoes.  She only needed help tying the laces (as did all the girls!).  Rebecca’s ability and cooperation clearly came as a surprise to the instructor, and she exclaimed after class almost in disbelief, “Rebecca did a great job!”

Over the next several weeks, Rebecca surprised even me as she learned the entire dance routine and performed in her first recital.  Her father and grandparents were in attendance and were astonished.  I watched proudly as other onlookers pointed her out and described her performance as “impressive,” “adorable,” and “a show stopper.”  Afterward, the instructor gave her a hug and warm words of praise.  In the end, I suspect she was the most surprised of all—not only by Rebecca’s capabilities, but also by the transformation that occurred within her own heart and mind.

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