A "Cure" for Down Syndrome?

Interesting medical research has surfaced concerning the future of Down syndrome.

In the lab, researchers have been successful in shutting down the extra chromosome that causes Down syndrome. By injecting a gene called Xist into a human cell, the function of the extra chromosome can be silenced. The procedure has not yet been tried in full human bodies, although testing has begun on mouse models of Down syndrome.

Experts are calling this a landmark finding, technological breakthrough, and hope for the future.

But among parents, feelings are mixed.

They speak of excitement over the possible removal of health risks like leukemia and dementia, but express unease over the thought of changing what makes our children unique.  One parent questioned whether this would be forcing society's expectations of what constitutes a "worthy life" on a group of people who are otherwise happy and satisfied with their lives.

And then there was my favorite response of all:

I know this is a serious issue but I must admit that I am a bit distracted thinking about a mouse with Down Syndrome! If I were getting a mouse, I would definitely choose that one! I wouldn't change my Lori for anything in the world! We love all 47 chromosomes and wouldn't want anybody to turn off any of them! --Robin

Like others, my feelings about this medical breakthrough are conflicting.  My thought process leads me, once again, to the question I have never satisfactorily answered:  

Is Down syndrome something Wade has or is it something he is?

While I know that an extra chromosome does not define him or his potential to contribute meaningfully to society, I still find it hard to separate that 47th chromosome from the rest of his being.  In many ways he is like us, his biological family; in many other ways he is like those with Trisomy 21, his chromosomal family.  I cannot separate the two and still picture the whole person of Wade.

And so I wonder.

Would silencing the chromosome also silence the unconditional love that I admire?

Would it change the beloved way he runs a bit awkwardly like a lopsided leaf fluttering in the wind?

Would it make his speech easier, but his language tarnished?

Would it impair his delight in the common, his gratefulness for the least?

Would it take away his extreme cheerfulness in the (very) early morning?

Would it trade his inherent trust for the daily fear that stalks the rest of us?

Would it remove his gift of innocence and replace it with a sophisticated knowledge of evil?

Would it silence the familiar and give voice to a stranger?

Would it censor the way he says suddenly and often, "I love you too, Mom" for no reason, no reason at all?

Would an easier life be worth the price?

And I know in my heart that if  those questions are answered with yes, then the price for a "cure" is one that is too terrible to pay.

This Is a Test

For Wade, freedom of speech comes at a high price.  He has had many hours of therapy invested in acquiring the verbal skills other children seem to pluck from the air.  We've been working especially hard on teaching him to speak slowly and clearly.  Without frequent reminders, he tends to rush through his sentences as though he were speaking in shorthand.

Part of his language disorder is cognitive, i.e. lacking the ability to express complex thoughts in ways that make sense to others.  But another part of his language delay stems from a mild muscle weakness in his tongue, lips, and jaw, making proper articulation more difficult to achieve.  When you think about what very minute changes your tongue and lips make to produce each separate vowel sound, for example, it is easier to understand how a slight muscle weakness could significantly garble the clarity of your words.

Sometimes I wish someone would invent little speech bubbles that would automatically float up above his head any time he would speak.  What an amazing technology that would be for the language impaired!  The possibilities would be stunning.*

In the meantime, however, my measuring stick for whether Wade's language is really improving has been to observe how well other people outside of the family can comprehend what he is saying.

So here is a test of your interpretive skills.  This is a video clip during one of Wade's speech therapy sessions this week. Can you understand what he reads from the paper in this clip?

*(After the therapeutic usefulness of the Auto-Bubble Speech Clouds had been thoroughly explored, then you could branch out to other realms such as making your own speech bubbles float above someone else's head.  Imagine what interesting things I could make Nevin say that he never thought, for example.  It would be written ventriloquism.)

The Music Lives On

Today we said good-bye to a friend.

He came for three years with songs and laughter and dancing, and Wade followed him like the Pied Piper of music therapy.

His teaching was a mixture of rhythm and glissandi, listening and counting, beach balls and swirling scarves,  piano and castanets.

And for everything there was a song.

But now he's gone and we don't have a song for that.

And Wade doesn't understand the meaning of no David.

"David sick?" he says.  "David in hospital?"

And I don't know what to say.

So we sit together and sing the "Good-bye Song" as we did so many times at the end of a session.

"Good-bye, David, good-bye.  

Good-bye is what we say.  

Good-bye, David, good-bye.  

We'll see you again another day."

But somehow it seems all sad and wrong.

And then suddenly I know why.

It's the wrong song.  David would have known that.  Because his music isn't ending; it's only beginning.  Today he is singing new songs more beautiful and golden than any he sang on earth.

And so we sing again, the right song this time, to David who lives today as he never did before.

"Hello, hello to David; 

Hello, hello to David; 

We'll sing and laugh and move and play; 

It is music time today, 

Hello, hello to David, hello."

Whoever believes in me, though he die, yet shall he live.  John 11:25

Indians Are People Too

Our oldest son, Randall, had a story in his reading book today that spotlighted a part of our nation's history which no one is proud to remember.

It reveals a sordid truth about us, however, that must be remembered, painful though it may be.

At the time of the story, in 1879, an Indian was not considered to be a person.

Driven away from their homes in Nebraska, the Ponca Indians fared poorly in the harsh wilderness of Oklahoma with scant provisions for settlement.  Many of them died, including a child of Standing Bear, a Ponca chief.

Wishing to bury his son on ancient burial grounds, Standing Bear made the long trek back to Nebraska only to be arrested upon his arrival.

In the trial that ensued, Standing Bear made an eloquent plea for the recognition of his people:

[My] hand is not the same color as yours, but if I prick it, the blood will flow, and I shall feel pain.  The blood is of the same color as yours.  God made me and I am a man.

Today, it is hard to imagine basing the definition of humanity solely on the color of someone's skin.  "How dreadful!" we say.  "How monstrous! How uncivilized!"

And yet today.....

....it is deemed to be the right of the parent to decide that a baby is not a person because he has an extra chromosome.

I seem to be hearing echoes of the power-hungry pigs in George Orwell's Animal Farm:  "We are all created equal, but some of us are more equal than others."

Or maybe I'm hearing the diatribe of the book-burning Fire Chief in Ray Bradbury's Fahrenheit 451:  "We must all be alike.  Not everyone born free and equal, as the Constitution says, but everyone made equal.  Each man the image of every other; then all are happy, for there are no mountains to make them cower, to judge themselves against."

You may dismiss those as mere stories or as wildly improbable tales of science fiction.  But we cannot dismiss the truth of our past:  at one time we destroyed other human beings simply because they were brown.

Are we regressing into the self-justification that allowed such atrocities?  Will we soon want to seek and destroy those who are autistic, deaf, dyslexic, elderly, red-headed, or sports-impaired?

Have we come so far in 130 years only to be doomed to repeat our mistakes?

Think about it.

Perfect Love

He was a brilliant scholar, an Air Force pilot, an FBI agent.  He accepted nothing less than perfection.  In his eyes, Trisomy 21 was not the picture of perfection.  It was not part of his plan for a perfect life.

Never underestimate the power of love to change lives.

This clip is 14 minutes long, but please take the time to watch it.  I think you'll be glad you did.

It is a story that rings true because I've been there.  I know both the grief and the healing. I've lived the metamorphosis from denial to epiphany, and have been likewise overtaken by the compelling urge to share the journey.

It is a gentle transformation of dynamic proportions in which perfect love arises out of imperfection.

And when I see the tremendous power of feeble human love, I am able to visualize for the first time how very much greater is the power of God the Father's redeeming love for us, His imperfect children.

For God so loved the world that He gave His one and only Son, that whoever believes in Him shall not perish but have eternal life.  For God did not send His Son into the world to condemn the world, but to save the world through Him.

                                                                                                                                          John 3:16-17

I am convinced that neither death nor life, neither angels nor demons, neither the present nor the future, nor any powers, neither height nor depth, nor anything else in all creation, will be able to separate us from the love of God that is in Christ Jesus our Lord. 

                                                                                                                                          Romans 8:38

Down Syndrome Awareness Month

It's October.

That means 31 for 21.

Thirty-one days of blogging for awareness of Trisomy 21, otherwise known as Down syndrome.

But this year I'd like to expand that concept.

How about 31 days of blogging for awareness of the Gift of Imperfection?

In a world obsessed with perfection, we struggle as never before to meet the impossible standards the media imposes on us.  How do we raise well-balanced children in a society so distorted in its perceptions of reality?   How do I stay balanced myself?

In pondering (well, ok, worrying) about these questions, I have come to realize that the greatest gift our family has received has been that extra chromosome.

A deviation from normal.

Something gone wrong.

That's what the Knowledgeable People say.

But the wisdom of this world is foolishness with God.

And somehow, I can't think of any better words to describe this concept than in those of Winnie the Pooh.

"Rabbit's clever," said Pooh thoughtfully.

"Yes," said Piglet, "Rabbit's clever."

"And he has Brain."

"Yes," said Piglet, "Rabbit has Brain."

There was a long silence.

"I suppose," said Pooh, "that that's why he never understands anything."

So in the interest of educating all Rabbits (of whom I once was), we welcome October and celebrating the Profound Simplicity of All Poohs.

"I thought she said October was Some Kind of Awareness Month," said Rabbit.

Pooh nodded thoughtfully. "It's the same thing," he said. 

Join us in this wonderful wacky world of letting go and enjoying the moments, both perfect and imperfect.

The Graduate

Wade graduated from his Bible Play School Pre-K class last week.

Next in line!

Posing with teachers.

  Celebrating with his best friend Bryan.

Performing at the program.  Wade is the letter S in J-E-S-U-S.

Back home.  Big brother swiped the outfit.

Phantom of the opera...or something.

Summer schedule coming up!  Stay tuned.

A Perfect World

I dislike intensely the politics of most groups, secular and religious alike, when it comes to issues like abortion.  Behind the name calling and finger pointing of both sides, somehow in the heat of the argument, we seem to quickly degenerate into the land of the inhumane.  And no one benefits from that.

So, most of the time, I would rather allow this blog to be simply the story of what one family is learning, existing for those who will find it when they need it the most.

But....

....there are times when I feel the urgency of a message that must be heard because it is not only the message of an extra chromosome, but is also the heartfelt cry of us all.

Please don't destroy me because I am not like you.

This week Kurt Kondrich has written a thoughtful article entitled "Eugenics as a Human Right?"  As you read it, can you help but ask yourself, "When will they come for me?"

In the meantime, while you're thinking, take a detour over here "In Honor of Carissa" and just for a moment allow yourself to imagine: What if everyone thought like Carissa?  Would the world be more, or less, perfect?

When Will They Come for Me?

Disability is the only minority that any of us can join in an instant.  And until we build a world that includes everyone, we're all going to miss out.                                                              --Lawrence Carter Long in the documentary Monica and David

This week Time magazine featured an article on Down syndrome concerning the ethical debate that is raging over advances in prenatal testing.  A new blood test from Sequenom, a biotech company based in San Diego, makes the prenatal discovery of Down syndrome a simple process which carries with it the ability to reveal the extra chromosome as early as 10 weeks gestation with nearly 100% accuracy. Similar testing will likely soon be available for other chromosomal deviations.

It is true, that prenatal testing as a means of preparing for the future can be a good thing. Never has there been a world so prepared for a child with Down syndrome.  Early intervention, trained therapists, and myriad resources in the forms of books, blogs, and support groups all are at our fingertips.  Projects like I Have a Voice, cartoons like Punky, and events like the Buddy Walk serve to remind the public that human beings are not made from cookie cutters  For each of us then as individuals, the future would seem to be a bright and exciting place.

But I fear that the main purpose of this early and efficient test is aimed not to prepare for a future of diversity, but to destroy it.

And I wish that I could reach out to everyone who receives the news of that extra chromosome and say...I know.  I know how scared you are.  I know that you wouldn't choose this now.

But I also know that 99% of families love their children with Down syndrome.

I know that 88% of siblings feel that they are better people because of having a sibling with Down syndrome.

I know that 99% of people who have Down syndrome themselves are happy with their lives.*

And I know that there are waiting lists of loving families who are hoping to be able to adopt a child with Down syndrome.

A prenatal test can't tell you that.  A textbook analysis of that extra chromosome is only a biological description.  It can't tell you the personality, the joy, and the unconditional love that seems to come as part of the package.  It also can't predict the fierce love that will overtake you, the strength that will become you, the great and wonderful family of diversity that will join you.

A prenatal diagnosis could never have revealed to me the joy with which Wade greets each day.  It couldn't have whispered the happiness of hearing the words, "Good morning, Mama, good morning!"  It could never have communicated the pure pleasure of the enthusiastic thankgivings that pour forth every day from Wade, no matter whether we have given him a cookie or a chore.  It couldn't have pictured how his eyes curve into happy half-moons when he laughs or how the warmth of his hug makes every homecoming heaven even though I've only been away for 15 minutes.  And it could never have hinted of the aching wistfulness I often feel--not for the life we lived without Down syndrome, but for the life that Wade lives with it.

It is a life lived with a generosity of spirit that I wish could become my own.  For his is a vision that includes a friend behind every door, beauty in a crumpled leaf, and gratitude for a crust of bread.

Naive, you may say.  He just doesn't know enough to know better.

Maybe so, maybe so.

But it is through his naivety that I have been shown the pure goodness of unadulterated love.  And it is because of this innocent example that I am learning what it is to be truly human, truly imperfect, and truly loved.

It is a universal message that we all yearn to hear.

And so I ask you to consider the future--the future of us all--when I say, "Please, please don't kill the messengers."

First they came for the communists,
and I didn't speak out because I was not a communist.
Then they came for the trade unionists,
and I didn't speak out because I was not a trade unionist.
Then they came for the Jews,
and I didn't speak out because I was not a Jew.
Then they came for me,
and there was no one left to speak out for me.

                                                                --Martin Niemoller

 *Statistics based on research by Dr. Brian Skotko published in the American Journal of Medical Genetics

Partying with Our Extra Chromosomes

Christmas is not a time nor a season, but a state of  mind.  To cherish peace and goodwill, to be plenteous in mercy, is to have the real spirit of Christmas. --Calvin Coolidge

  

Cool outfit!

Hang onto those whiskers, Santa!

Horse Feathers the Clown 

Zarro, the Balloon Artist had fantastic creations.

Thanks to our friends with a little extra, who carry Christmas in their hearts all year.