Today is very special.
I remember three years ago, the rush and excitement of Alexander being introduced to the world. He was always such a kicker in mommy’s belly, kicking with more force then his older brothers during their 9 month stay. He was already determined to let the world know that he was a fighter. A strong fighter.
Labor was typical at first for Alexander and didn’t change until early in the morning on June 13, 2014 when a nurse came in the room for a routine vitals check. I was seated next to the hospital bed, half-asleep and half-ready to run a marathon. I was awoken by a lot of commotion from the nurse who was frantically adjusting Alexander’s heart monitor band. She’d quickly adjust the band then hold it steady while she stared at the screen and listened for vital signs. No luck.
What was happening?
She called for assistance from another nurse who joined us in the room in an attempt to find vitals. This nurse had a little bit of success, but it was short lived. We’d hear a hint of a heart beat and then it would go away. I didn’t know what this meant. Was there something wrong with the monitor? They called in the doctors, we were going to have an emergency C-Section. Time was critical.
This was our first sign that things were going to be different for us and for little Alexander. Here we are three years later on his 3rd birthday with a terrible diagnosis but hope for the future because of his new treatment.
The Medicine (Spinraza)
It has been a rough path with many battles but for a good cause and with a fruitful result. Alexander is finally receiving his treatment. Spinraza requires 4 loading doses and then follow-up doses every 4 months for the rest of his life. The first 3 loading injections happened two weeks apart, while the final 4th loading dose occurs roughly 30 days after the 3rd dose. Alex has had 3 of his loading doses so far and is scheduled to receive his final loading dose in two days. We opted to not do it on his birthday.
Spinraza underwent multiple clinical trials that evaluated its efficacy with different types of SMA. The CHERISH trial had 126 child participants between the ages of 2 and 12 (bless you) who were diagnosed after they were 6 months old. The data showed a significant improvement in muscle function and motor skills after 15 months. It is important to understand that not all children showed improvement. And those that did show improvement, were doing so at different degrees.
It has been our hope that Alexander begins to rebuild strength and have more mobility to be a kid. Ultimately we just want him to not get worse. We want to avoid eating problems, breathing problems, anything that undermines his general health. We want to maximize his quality of life and want him to be happy (psst.. he is!). Having said that, we are already getting a glimpse of something exciting.
It’s the little things
Any sign of improvement in Alexander’s condition means that the drug is working, at least in some capacity. If we see improvement then it raises our confidence that his little muscles won’t continue to atrophy as rapidly, or at all. A slow and steady climb of increased strength is great and far better than the alternative. Needless to say, there is a lot riding on the weeks, months, and years of his treatment.
The first indication of something positive occurred after his 2nd loading dose. He seemed to have a stronger inner core that allowed him to project his voice at a volume that could get someone’s attention at the other end of the house (or next door!). He seemed to be so much louder and more vocal than before.
A little bit later, after his 3rd loading doses, we noticed that he had more stamina, more energy. Before treatment he didn’t want to spend more than an hour or two in his wheelchair. He would get exhausted from sitting upright and maneuvering around the house. His arms would ache and he’d ask to “get out” so that he could sit on the couch or in his high-low chair.
Now he likes to spend most of his day in his wheelchair exploring the house, chasing Charlie, or bugging his brothers!
We just recently noticed that his fingers aren’t trembling as much as they used to. I’ve always paid close attention to his finger trembling, it was the differentiating symptom in our research that pointed to a diagnosis of SMA. It didn’t seem that much else explained that I couldn’t brush off before we had a diagnoses.
This is an exciting milestone for him. We noticed his tongue trembling in a similar way about 7 months ago which could be a sign of talking and/or swallowing problems that are soon to come. This new improvement may translate to those muscles as well.
Alexander has been taking advantage of WV’s Birth to Three services for a little over a year. Birth to Three is a great program and has been a tremendous help for our family and Alexander. The people have shown tremendous care and concern for Alexander’s well-being and we will miss them dearly.
Since Alexander turned 3 today, he is no longer eligible for the program. We think physical therapy will be critical to strengthening his muscles and for his overall well-being so we are now looking at outside physical therapy services that will be paid for by his insurance. There don’t seem to be many options locally so long-distance travel may be our only option.
Whatever we need to do keep him active and progressing.
We are happy and hopeful, careful to restrain our excitement while encouraging Alexander to continue making progress.
We are also thankful. Thankful to so many families that participated in clinical trials, some who were only receiving placebos, all so that children like Alexander could have a fighting chance. Many made the ultimate sacrifice.
We will continue their fight to conquer SMA through Alex.