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Spinal Muscular Atrophy: Sophia's Story

March 22, 2011 | by Catherine Gaynor

The diagnosis was devastating, but we needed to stop mourning our daughter who was still alive and begin living with SMA.

On June 2008, six months after miscarrying, our prayers were answered; we were expecting a baby. I remember being extremely anxious with every doctor's visit, but time and prayers helped me overcome my fears and convinced me that my baby was just fine.

Until my blood work showed I was a carrier for Spinal Muscular Atrophy (SMA) a terminal genetic disease I had never heard of. It is estimated that 1 in 41 individuals, including Ashkenazi Jews, is a carrier for SMA. My husband needed to be tested as well and four weeks later we learned he was carrier too.

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On February 27th 2009 Sophia was born and we were told that the probability of having an SMA child was only 25 percent. A few weeks later, Sophia was diagnosed with the disease. We prayed every single day, even before the diagnosis, even before she was born. We were told she wouldn't be able to lift her head up, sit up, crawl or walk. She would lose the ability to swallow and breathe on her own, she had 50 percent chance of living six months and she would not live to see her second birthday. But in my heart I just knew that she would be alright, and as I write this my little girl is turning two.

Spinal Muscular Atrophy is the #1 genetic killer of children under the age of two; there is no known treatment or cure.

Spinal Muscular Atrophy is the #1 genetic killer of children under the age of two; there is no known treatment or cure. Sophia's diagnosis was devastating but we needed to get up and stop mourning our daughter who was still alive, and begin living... living with SMA. It wasn't the life we thought we would have, but it was our life, Sophia’s life, and I wasn't going to take one single second for granted.

We began our SMA journey full speed ahead. If Sophia couldn't go out and conquer the world, we were going to bring the world to her. Thanks to some wonderful programs in our area Sophia has a physical therapist, occupational therapist, speech therapist and a teacher who all come to our home to work with her. Our goal is to keep our little girl healthy and happy, praying that treatment or cure is right around the corner.

SMA has been selected by the NIH (National Institutes of Health) as the genetic disease closest to the cure, a cure that will also help at least 20 other genetic diseases, including Tay-Sachs, another disease that affects the Jewish community. We became Sophia's passionate advocates, always looking for the best doctors, the best sources of information and the most promising research.

A month after our diagnosis, Sophia’s Cure Foundation was born in our home in Wantagh, New York. The foundation was created to assist in funding for clinical research towards finding a cure for SMA and to offer support to families affected by this disease by providing advocacy, education and support. We work tirelessly to fund research, advocate for the community and provide access to quality health care for SMA patients, and raise awareness since it is the only way this disease can be prevented. We believe in our daughter, we believe every child affected by SMA should be given a chance to live a long and normal life.

Endless e-mails and phone calls, tireless nights of online investigation and conversations with researchers, meetings, scheduling interviews, lending a helping hand to SMA families, supporting newly diagnosed families, planning and organizing countless fundraisers across the country and assisting others with theirs became part of our day to day, and now, we just couldn't imagine life any other way. So proud and touched by the people who become inspired by us and are compelled to help and get involved.

One of those remarkable people is Robbie Rosen, a contestant on the recent American Idol, who wrote a song inspired by Sophia "Make it Through" right after he learned about her story. Robbie is just 16 years old.

On December 2009 our world was shaken once again; Sophia was going to have a sibling. With a one in four chance of having another SMA child, this is not happy news. Not again, not another baby suffering this horrible disease… We had so many emotions going through us, the prayers that never ceased since the moment we learned we were having Sophia became even more intense and desperate. We needed to know if our new baby had the same disease that has robbed our daughter of 90% of her abilities. I was over 11 weeks pregnant when I saw the fetus on the monitor in the doctor's office and in my heart I knew two things: it is a boy, and he does not have SMA. This feeling was later confirmed by the doctor's tests.

SMA has taught us to not take one day, one moment for granted.

On August 5th 2010, our son was born. He looked so much like Sophia; he was beautiful and we knew he and his sister would adore each other. We have given our daughter, who has to be quarantined in our home during the winter months for fear of her catching an illness, her greatest gift -- a best friend who will always be with her.

Many people ask me if I ever stop having that fear of losing Sophia. I don't know what tomorrow will bring; there are no guarantees. I don't know how much time I have with Sophia, or my husband and new baby. But I do know that SMA has taught us to not take one day, one moment for granted. We strive to live everyday with each other to the fullest, no regrets.

Sophia may not be able to sit up, run around or even breathe on her own, but I do know she is happy, I can see it in her eyes. It is a blessing that I am privileged to be her mother, to take care of her, love her, snuggle her, make her smile and be with her every step of the way.

SMA research is so promising. There are many great things going on, many things to be hopeful for. I don't know if the cure will come in time to help Sophia, but I will not lose hope. And if it will help others living with SMA, then it will all be worth it. My husband says he can't wait for the day that Sophia’s Cure Foundation closes its doors. We won't stop until we find that cure. Every single effort is making a difference, a difference that we hope will save lives.

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