My Daughter Has A Rare Genetic Disease: Here's Our Story

My Daughter Has A Rare Genetic Neuromuscular Disease — Here’s Our Story

Daughter-Rare-Genetic-Disease-1
Courtesy of Ciji Green

Everyone talks about the terrible twos, but not a lot of people talk about how terrific they can be at the same time. My youngest daughter, Maisie, is growing into her personality, trying to brush her teeth and get herself dressed and—perhaps most significantly—is finally standing without my help for up to 11 seconds. That is 11 seconds longer than we had ever imagined she would achieve.

Courtesy of Ciji Green

Maisie has a rare, genetic neuromuscular disease. Her diagnosis of spinal muscular atrophy (SMA) Type 1 came right around her six-month birthday — though, on reflection, our journey started much earlier. Since the very start, I’ve been fighting for her.

A mother’s intuition is sharp. We know when a fever is more than just teething, what may be behind a crying spell, and the secret to starting a round of uncontrollable giggles. When Maisie was born, it didn’t take long for my motherly intuition to kick in. She wasn’t moving her legs; she was losing strength at a rapid pace and eventually she stopped wanting to eat. When I raised those concerns to doctors, I didn’t get the information I was hoping for. They said Maisie was a lazy baby and dismissed my concerns about her lack of appetite. I remember going to my mom and saying, “I know the doctors are saying she’s fine, but I’m losing my baby.”

Courtesy of Ciji Green

In contrast to the doctors’ recommendations, Maisie’s physical therapist suggested that we take Maisie to Denver for more medical tests. She stayed on the phone with the doctor until they agreed to see us that same day. I packed the car, strapped Maisie into her car seat and headed to the hospital. I felt a brief wave of relief on the way there — I was finally going to get answers about what was happening with Maisie, and hopefully walk out of there with the clarity I needed.

This was a time I wished my motherly intuition hadn’t been correct.

Courtesy of Ciji Green

A few hours later, a doctor came into our exam room and put a hand on my shoulder. I knew this was a sign that I was about to hear bad news. I was correct in that assumption—the doctor told us that Maisie had SMA Type 1. She started sharing details about the disease, but I only heard bits and pieces such as, “we’re not an SMA hospital,” “there isn’t anything we can do,” and the most upsetting (and I later learned, inaccurate) one: “there are no treatments available.”

I was so terrified that I began shaking and threw up in the hospital, but I knew I had to be strong for my daughter. I soon learned that SMA is the leading genetic cause of infant death, and if SMA Type 1 —which is one of the most severe forms—goes untreated, it can lead to the need for permanent ventilation, feeding support or death by a child’s second birthday.

Courtesy of Ciji Green

Shortly after her diagnosis, Maisie was able to receive the only approved SMA treatment at the time.

Exactly one year after that first trip to Denver, another treatment was approved for SMA by the U.S. Food and Drug Administration.  Following two months of back and forth with my insurance company, we finally arrived at her dosing day. When Maisie was in the hospital receiving the new treatment, I remember thinking “SMA didn’t take my baby away.”

One of the key lessons I learned from this harrowing experience is to not accept anything at face value. I knew that my baby wasn’t fine. Maisie’s physical therapist, who continues to be an important part of our SMA story, knew that Maisie wasn’t fine. Acting on that gut feeling probably saved Maisie’s life. If you see that your baby is experiencing similar symptoms, please get your baby tested for this genetic disease. If the results come back positive, know that while this news will change your life, I promise that you are not alone. The SMA community will support you through your journey.

Courtesy of Ciji Green

In fact, if I knew that Maisie had SMA when she was born versus six months later, I would have fought for her to have the earliest possible treatment. SMA is a progressive disease and earlier intervention leads to better outcomes in children. Unfortunately, at the time of her birth, SMA was not included on the list of diseases screened in newborns in Colorado. Fortunately, that has since changed and now newborns are screened for SMA in the state within the first hours of their life.

This August was Maisie’s one-year anniversary since receiving her final SMA treatment, and I can confidently say that this spunky little toddler has completely exceeded my expectations. She has also taught me to celebrate every milestone, no matter how small. Maisie said “momma” for the first time when I was driving on the highway, and I was so shocked that I had to pull over, crying happy tears. That’s because for our family, saying “momma” isn’t just a word. It meant that her tongue was moving, that she was able to make noise, and that she could swallow. We don’t take any of those things for granted.

Motherhood is a unique gift, and I’m lucky to be Maisie’s mom and enjoy all the little moments. For us, every second, every small step, is a victory. I will never stop being her voice or advocating for what she or the SMA community needs. It hasn’t been an easy path, but it’s our path.

 

If you are looking for more information about SMA or want to help those in your community, visit www.CureSMA.org.