Sunday, July 21, 2013

Is Shutting off the Third Copy of the 21st Chromosome an Insult to My Daughter?

After what was billed as an amazing breakthrough, a harbinger of hope, researchers at University of Massachusetts managed to 'turn off'' the third copy of the 21st chromosome in a petri dish, many parents who love their children with Down syndrome are feeling that this line of research is ultimately a rejection of the children they love so deeply. Its easy to understand that point of view, after all, the world harshly rejects the great majority of unborn babies with Down syndrome, aborting them at a rate of 75-92%, with new tests like MaterniT21 threatening to raise that already high rate. They have learned to love their special children as they are, delays, medical needs and all, and feel strongly that the type of research which 'shuts off' a chromosome will somehow alter their lovable personalities. I love these people and deeply admire their devotion to their beautiful children, its a fundamental value which we share, yet I see things differently.

Once in the middle of a live TV interview, Canadian show host (and ardent pro-lifer) Michael Coren asked me what he described as a difficult question, "Would you, if you could, take your daughter's Down syndrome away?". I tried not to stare into the remote camera like a deer in the headlights, but he had caught me flat footed. I fumbled for an answer, not wanting to offend those folks I just described,  answering that I knew that Down syndrome was part of who she was, but that if research advances were safe, I could see myself using them to help her be able to speak, that being able to know her thoughts would be a great blessing. I sought a clearer answer, and perhaps there is none, but I will express my thoughts on this controversial topic anyway. Let's see if it gets me into trouble.

The third copy of the twenty-first chromosome caused my daughter's brain to become muddled in her fifth year of life. She was putting words into little short phrases and happily engaging those around her. We had every reason to believe that her IQ of 69 indicated that she would benefit from inclusive education and would progress, perhaps more slowly than her typical peers, but surely would be able to read, speak and make friends in order to live a happy, fulfilled life. We moved from Long Island to Connecticut so that she could benefit from the inclusive classrooms there. Life was full of promise.

By the second grade, it became clear that this dream was not becoming reality. Christina spoke less and less, struggled to maintain interest in her surroundings, and reading was progressing much more slowly than we anticipated. At her pediatrician's insistence in third grade, I began to seek evaluations from well known speech and education professionals to understand why my daughter was losing language. We found little to encourage us that she would change, and the school put her into a resource room for students with autism, although she has never been diagnosed with autism. The University of Connecticut Speech and Hearing Clinic evaluated her and worked with her for four months with some success, saying she had a language processing disorder. Her neurons in the speech center of her brain do not connect. She has lost many connections which used to exist, and the vocabulary of a hundred words she had has nearly disappeared. What is causing this? The extra copy of the 21st chromosome which is over expressed, like a broken record, sending out signals which confuse my daughter's speech center, isolating and confusing her and cause her to turn inward, watching DVDs for hours and playing with her stuffed animal, her only friend.
Her IQ is now 20.
Down syndrome did this to her

How does her future look right now? Bleak, unless there is a medical breakthrough. Only her family or those who can understand Touch Chat on the Ipad can communicate with her. Children reject her odd mannerisms as she tries to communicate with them. She often resorts to throwing things to gain attention, and there has been talk of medicating her to control these behaviors. I am heartsick.

Why shouldn't I be thrilled to know that in ten years there may be a medication or gene therapy which can repair this terrible damage to Christina's brain?
 I want her back, the happy smiling little girl who sang part of "Old MacDonald Had a Farm" with her daddy in a home video when she was five.That video makes me cry now. I miss the little girl who wanted to be best friends with everyone she met, whose future was promising.
My daughter is trapped by Down syndrome's mistaken messaging in her brain. Do I love her as she is, even if she never speaks again? Of course I do! Do I want her to speak with all my heart so that she can find more happiness in the world, in friendships, reading, and fulfilling work?
Of course I do.

So, excuse me if my heart skips a beat when I hear about medical breakthroughs which might bring back my daughter, my true daughter to me. She is not the sum total of her chromosomes, Christina is far more than that, but she is deeply affected as we all are by her genetics. They do not affect her soul, but who else but those of us who love her will see the beauty in that soul if she can never speak again?

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Anonymous said...

Leticia, your daughter and the love she inspires is beautiful. I feel your pain. Our John Paul is eight and we struggle with similar issues, though I haven't done as much leg work/seeking the professional help as you've done. I think that the someday-saint Jerome Lejeune would see things the same way you do.

Gretchen said...

I had no idea a child with Down Syndrome could regress like that! I can see your point.

priest's wife said...

a person is more than their genes...I have genes that predispose me to cancer...should I embrace that? No. if I could shut that off morally, I would

I also know a sweet 5 year old with leukemia because of his DS...I would LOVE to shut that off!

Leticia said...

Anonymous, yes I know Servant of God Dr Jerome Lejeune agrees with us. He said, "the only way to save them is to heal them" referring to the 90% abortion rate of our precious children. His lifelong quest to heal our kids was one of love, an attempt to keep us from aborting them and to give them the fullness of life. No children of his had Downs, yet he treated them as his very own children, while he worked tirelessly on a cure, and I know he is interceding for them from Heaven, some of the researchers have said they think he is making things come together for them.

Unknown said...

Leticia--thank you for your candid discussion. When I learned of the research (while driving to present at a conference sponsored by the Lejeune Foundation no less), immediately I thought of the families whose children are challenged as you describe Christina who would welcome this news. At the conference, another presenter shared the research developments in treatments at a metabolic level, not a genetic level. I have less qualms with those more standard forms of medicinal treatment for cognitive challenges then the more fundamental challenge posed by changing a child's genetic make-up (or more accurately switching off some of those genes). Thank you again for sharing your position informed by your personal experience.

Anonymous said...

Such a well written post!!! I struggle with this issue. My husband says no way would he take away Noah's (6-DS) Down syndrome. But for me, I think I might if I could. It makes me sad knowing how very hard he has to work just to do the things my other kids take for granted. It will take him years to learn his numbers - my 5-year-old will learn them in a week. Why would I skip an opportunity to spare him such a difficult path? But then I think about his laugh - that same laugh I hear from other kids with Down syndrome, and I see his smile - that smile that is so pure, so totally and completely full of joy for the moment; and how could I take that from him?

I think as parents we all deal with the Down syndrome a little differently, some totally embrace it and refuse to acknowledge anything negative. Me, I'm somewhere in the middle. God - he's got it covered.

Blessings to you,

Barbara Fryman said...

I wrote two posts on this. Your post gave me new perspective. Thank you.