“Our job is not to save her, but to keep her alive until they find a cure.”
Those words were spoken between me and Lindsay on the night we found out Ella had SMA. We were in a place that no parent wants to be...knowing that your innocent child has a terminal illness with no cure or treatment.
If you go back onto our blog pages and look at the historical entries you can see the journey we have taken is one of harsh realities around many corners. We watched as our daughter, our “Squishy”, lost more and more abilities. We watched as she struggled through her days and her nights. We watched as the delicate fabric of life came undone before our eyes.
As time passed we got Ella on an Amino Acid Diet, got her into therapies, and took a proactive approach to her care; only then did we see a plateau effect in her skills and abilities. She didn’t seem to be losing skills nor gaining them either. And things always got worse when she had her surgeries. The surgery recovery came at a cost---namely the loss of skills and increased contractures.
Now we have Ella on the only treatment for SMA known as the drug, Spinraza. We are seeing improvements in her strength and skills and are very grateful to be able to offer this treatment for her. She has to have injections of Spinraza every 4 months for it to be effective.
For eight years, the physical toll SMA has had on me and Lindsay cannot be put into words. Every day it feels like Ella gets heavier and heavier. Lifting her, transferring her, and re-positioning her takes its toll on our bodies.
SMA has more than just a physical impact on our lives. As a family, we have struggles with Ava and Henry and their reactions to having a younger sister with SMA. They often feel left out because Ella gets so much attention from so many people. They feel resentment for having to have to help Ella with the simplest of tasks. Their ability to empathize with Ella is minuscule at best. They harbor anger. They harbor jealousy. They harbor little sympathy. It’s a lot for them to handle.
Lindsay and I have our battles to fight when it comes to living with SMA as well. We both have to reconcile within ourselves the acceptance of the disease and its implications. We have to balance the care we provide for Ella and the care we provide to Ava and Henry. We have to also take care of our relationship with each other. Having a child with a terminal illness who is so dependent on you for so many needs takes so much time, energy, and emotion; often there is little left of any of them for maintaining a healthy personal relationship with your spouse. Every minute counts, no matter how few and far between they may be.
SMA is caused by a missing or mutated gene. This gene (SMN1) is responsible for producing a protein known as SMN (Survival of Motor Neuron). This protein keeps our motor neurons alive. A person with SMA is either missing the gene or it has mutated. Over time, since there is no SMN protein being produced (or very little is produced by back-up gene[s]), the motor neurons of those afflicted slowly die off, or go dormant (doctors aren't sure if they die or just go dormant).
Today (5-24-19) it was announced that the first ever gene replacement therapy has been approved for children (infancy to two years old) with SMA. This drug (Zolgensma) would replace the missing or mutated gene, thereby producing the needed SMN (Survival of Motor Neuron) protein thereby keeping motor neurons alive! The drug would not reverse any damage but it will "change the course of SMA" [Kenneth Hobby--CureSMA].
We’ve waited eight years for this breakthrough and it is finally upon us. Waiting some more time for the FDA to approve it for older children and adults will be worth the wait if it saves lives. In the meantime, we do the best we can to take care of Ella.
