About halfway through my pregnancy with Maddy, I got the results back from my amniocentesis. That devastating call let me know that my baby girl had spinal muscular atrophy (SMA). “Spinal muscular atrophy is a disease that robs people of physical strength by affecting the motor nerve cells in the spinal cord, taking away the ability to walk, eat, or breathe. It is the number one genetic cause of death for infants.” -Cure SMA website
I was terrified and heartbroken. I had never even heard of SMA, and now out of nowhere it was about to consume our lives. Google was the enemy and I was already mourning my baby girl’s life while she was still safe in my womb. Doctors had even brought up terminating the pregnancy as an option because this disease is not a kind one.
I was devastated. I couldn’t stand the thought of terminating my baby girl’s life. I was determined to love her and to hold her as long as the Creator allowed me to. I believe she chose me to be her momma and I just couldn’t let her down in any way; I believe she needed me to hold her, and I needed her.
Maddy was born September 6, 2017 at 35 weeks. She spent her first 12 days in the NICU and has been a fighter ever since.
She was born 10 months after Spinraza was FDA approved. Spinraza is a drug that goes directly into her spinal cord. They take 5 mils of spinal fluid out and replace it with Spinraza. Early interventions (like steroid shots days before she was born along with her first dose of Spinraza when she was two days old) have prevented her from having many of the complications and health problems other SMA children experience.
Although a huge step forward, it doesn’t help with the “cause” of the disease which is the failure of the body to produce the gene necessary for complete motor and respiratory function.
These injections are very, very expensive. She must receive these injections every four months for the rest of her life just to maintain a significant amount of breathing and motor functions.
It is so incredibly hard on Maddy each time she gets her injection. Now that she’s older, stronger and moves a whole lot more, she needs to undergo sedation every time. It’s very hard to watch my daughter go through this. I struggle with the thought that she will have to do this for the rest of her life.
We were overjoyed and so hopeful when we heard about a new FDA approved gene therapy treatment called Zolgensma. This infusion will replace the gene that our Maddy is missing. We have researched it, spoken with other parents and families who are affected by SMA, we’ve attended a conference to learn more and found that it’s a one-time procedure for SMA children under the age of 2.
We have been so grateful for Spinraza and all its done to help Maddy function as well as she is. But when I heard that Zolgensma corrects the underlying cause of SMA, I can’t help but get excited and hopeful for the possibilities! Not just for Maddy, but for all babies who are affected by SMA.
Here’s the issue: it’s expensive – very expensive! This one-time Zolgensma gene therapy costs 2.2 million dollars! We’ve already been denied by insurance several times. But when we compare the toll on her body, and the expense of the Spinraza injection every four months for the rest of her life, treating the symptoms not the cause, we are praying insurance realizes the long-term savings.
As we continue to appeal, I’m asking you for help. To avoid additional health threats, SMA babies need to get this treatment before the age of two. Since Maddy turns two in just one month, time is critical.
Any and all donations will go directly towards getting Maddy Zolgensma. This could include attorney fees, travel expenses, payment towards actual costs, etc. If the appeal should go through and your donations are not critical to meeting her needs, we would like to donate any monetary gifts to another family struggling to get Zolgensma.
As a mother, I am appealing to your kindness and generosity in whatever way you can. With deep gratitude, for Maddy’s life, I thank you.