Down Syndrome Research, Hope for My Daughter

It was billed as an amazing breakthrough, a harbinger of hope, when researchers at University of Massachusetts managed to ‘turn off” the third copy of the 21st chromosome in a petri dish last summer. But the jubilation was not universal.

Many parents of children with Down syndrome feel that this line of research is ultimately a rejection of the children they love so deeply. As the mother of an eleven-year old daughter with Down syndrome, I appreciate their perspective. After all, the world rejects the great majority of unborn babies with Down syndrome, with prenatal tests like MaterniT21 threatening to raise that already high rate ( estimated between 75-92% of babies diagnosed with Down syndrome are aborted). 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 deeply admire their devotion to their beautiful children. It is a fundamental value which we share, yet I see things differently.

Once in the middle of a live TV interview, Canadian show host Michael Coren asked me what he described as an extremely personal, difficult question: “Would you, if you could, take your daughter’s Down syndrome away?” I tried not to stare into the camera like a deer in the headlights, however, I fumbled for an answer, not wanting to offend my friends in the Down syndrome community. I answered that I knew that Down syndrome was part of who she was, but that if research advances were proven 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. My daughter has been rendered nearly non-verbal by her three copies of the twenty-first chromosome.

Christina’s brain became muddled in her fifth year of life. Until then, she was putting words into little short phrases and happily engaging those around her in conversation. Her teachers, therapists and those who loved her had every reason to believe that her IQ of 69 indicated that she would benefit from inclusive education and would steadily 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, withdrew socially, and her learning to read was progressing much more slowly than we anticipated. In third grade, at her pediatrician’s insistence, 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 ABA therapy, helping to spur language learning. It has not helped, and I struggle at PPT meetings to include any speech goals in her Individual Education Plan.

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. The only way I can explain is that she has lost many connections in her brain, and her access to the vocabulary of a hundred words she had has nearly disappeared. She may still understand those words, but she can no longer say them, relying on gestures and the Ipad to communicate. Lack of spoken language eliminated the possibility of friendship with typical peers in the middle school years, and  caused her to turn inward, watching DVDs for hours and playing with her stuffed animal, her only friend. My heart is broken as I continually search for a therapeutic treatment all the while praying for a medical treatment.

Her IQ is now 20.

Down syndrome did this to her.

How does her future look right now? Difficult, 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 confused 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?

 Leticia is the mother of three daughters, including 11 year old Christina, who has Down syndrome.  She is a blogger and journalist whose articles have been published in USA Today and The Chicago Sun Times. As the co-founder of KIDS (Keep Infants with Down syndrome) she is a regular guest on radio and TV discussing Down syndrome.  Leticia has contributed to several books including Chicken Soup for the Soul; Inspiration for Writers and the Encyclopedia of Catholic Social Thought and Social Policy, Vol III. Leticia is the editor of A Special Mother is Born, a collection of stories from mothers of children with special needs

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