My Story by Maggie Moore

We are the Moore family, my name is Maggie Moore, and Alex and I have two babies, Margaux and Xander Moore. Our daughter Margaux was born in August of 2017 with no complications, no symptoms at birth, and no reason for us or the doctors to be concerned about anything. At about one-month-old, I noticed she stopped moving her arms and legs. It was a very drastic change, and it alarmed me. I was dismissed by several family members who thought maybe I was overwhelmed and overthinking; however, her movements never improved. When I mentioned it to her pediatrician, she sounded very alarmed (she had patients with SMA, and I felt lucky she was very aware and experienced) and sent us to the local hospital. While in the ER, Margaux was seen and tested by several doctors, and the neurologist told us he was very sure she had spinal muscular atrophy. At the moment, I had never heard of the illness, but the further he explained, the more we understood that it was a very complex and rare disease, and it was necessary to begin treatment.

At the moment of diagnosis, I felt lost and angry, as well as incredible despair. I often questioned how this could be happening to our baby and us. The negative feelings were replaced afterward with an out-of-this-world strength and determination to do my very best to improve her condition and give her the best possible outcome. Soon after, she started the only treatment available at the time and had significant improvements. Later on, she started on the second approved treatment, a gene replacement therapy that we advocated for her to receive. Gene replacement therapy is such an expensive treatment, but it has so much promise for results that we have been blessed to see.

To me, the most incredible experience has been the awakening to see good in our situation and to turn what anyone could describe as a very hard circumstance into something beautiful. I believe in beauty, and it can be seen and created everywhere. Every day, I believe I was meant to be my daughter’s mother, and I am meant to help her and other moms and families that are going through similar circumstances, whether it’s with advice, or advocating or creating a path, so there is one more easy to navigate.  

I started advocating on behalf of Cure SMA and the state of Alabama to implement newborn screening for spinal muscular atrophy. After much effort, in February of 2022, it is finally being implemented in Alabama! Every child born in the state will be screened at birth for the disease. This early diagnosis will save lives and allow early access to treatment. I’m also on the Cure SMA Alabama chapter board, and I help newly diagnosed families. We offer support and guidance in the first few days, answering questions and pointing parents in the direction of answers.

I also started a podcast called SMA-Mom, in which I talk about our journey and our experience with the disease to create awareness and help someone in the same journey as ours. In the future, I plan to create a foundation in honor of my daughter and son in which we hope to help families access expensive treatments and equipment that isn’t covered by insurance and offer support in hard moments. 

I know my life changed the moment I became a mother, but I had a purpose the moment we received a diagnosis. I became the person both my babies needed, I spoke my mind, I asked questions, I was brave enough to question doctors and to push for what I knew we needed because I believe my daughter deserves a beautiful life. It is not easy to have many doctors and incredibly accomplished professionals tell you “can’t” and “won’t,” but I hope my bravery can open roads. We only hope to inspire my daughter, my son, and other moms to fight with all they got for what they believe. 

Guest post by Maggie Moore, Rare Mama to Margaux