The backstory
My husband and I had been married for three years when we decided to start a family. To prepare for this life altering event, we moved across country to find jobs that were stable and a city we felt was safe to raise a child. Once the decision was made, we got pregnant very quickly. Like all expectant parents, the next nine months were exciting; we decorated our nursery, bought cute baby clothes and toys, and attended baby showers thrown by friends and family.
The day my daughter Nora arrived, I was ecstatic. She was beautiful and perfect in every way. She passed all of the newborn screening tests with flying colors. We were even able to take her home early. While there was a considerable amount of readjusting, my husband and I took to parenting without a hitch.
Things began to change around Nora’s two month checkup. Nora’s pediatrician noticed that the muscle tone in her legs was underdeveloped. Not having any other children, we were not keen to these developmental delays. Without alarm, we were simply instructed to continue a daily tummy time routine and “all children develop at their own pace”.
Following that visit, we practices tummy time constantly. I was determined to get my daughter back on track as quickly as possible. After four weeks and no motor developmental improvement, we knew there were issues…big issues. Spending time with children the same age as Nora, we noticed how truly delayed she was. She was still unable to hold up her head, and she didn’t move her legs at all.
When we returned to the pediatrician’s office at four months old, they suspected possibly Cerebral Palsy and referred us to a Neurologist. Within the first five minutes of meeting the Neurologist, he threw out the term SMA (Spinal Muscular Atrophy). Already familiar with SMA, my husband and I were completely devastated. A simple blood draw and an agonizing three week wait, we received the horrific diagnosis of SMA Type I.
Knowing that these children have a shortened life expectancy, we spend every possible minute with Nora. Our primary goal is to make sure she is happy and comfortable. We have slowly come to accept the fact that Nora will never walk, never sit, may never talk, and will probably not live to see her second birthday. As her body continues to grow, her muscles will become weaker. Because every muscle in her body is weak, she struggles to breath, cough and swallow. She now requires a tremendous amount of medical equipment just to support her breathing functions. Nora’s beautiful nursery is starting to look more like a hospital room then a little girl’s room. And in addition to all this heart ache, the hospital bills and medical bills are beginning to accumulate.
Out of sheer desperation, Nora has been enrolled in a clinical drug trail to test a medication that may only slow the muscle deterioration. The primary side effect being liver failure is the least of our worries. Because the FDA has yet to approve stem cell therapy in the United States, we have considered taking her overseas in hopes of extending her life if even just for a few years.
Unfortunately there may never be a cure for SMA in Nora’s life time. It has become my mission to spread the word about SMA and Nora’s daily struggles. I hope that with enough funding, research can begin in the US that will help future SMA children. I believe it is also my responsibility to draw awareness to those families planning to have children someday.
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Best wishes, Nancy Quote
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