One year ago this month we received a call from Alexander’s Neurologist regarding his genetic test results. That call would prove to turn our worst fears into our new reality. The test results had shown a deletion of SMN 1 gene in Alexander’s DNA. This mutation prevents his body from generating effective SMN protein that plays a critical role in protecting the survival of motor neurons.
We suspected SMA a few months earlier when we were prepping for our meeting with our Geneticist. We had been Googling all of the symptoms and, much to our dismay, SMA explained Alexander’s situation more than any other condition. We asked our Geneticist immediately about this possibility and were reassured that there was less than a 5% chance that this explained Alex’s difficulties.
“Well this is worst-case scenario. I’m sorry.”
Those were the words of our Geneticist months later after we confirmed SMA was the culprit. “There are no treatments. Even most cancers have treatment.” she followed up. This was a punch in the gut. Of course we had noticed this very fact as we were digging into pages and pages of information on the disease, but it was still difficult to hear those words. After all, we were very hopeful about some of the clinical trials that were repeatedly mentioned in our research. Trials that had been showing fairly positive results.
Nusinersen was the one to watch. In trials, there was a statistically significant improvement in motor milestones when compared to those who did not receive the spinal injection. We continuously watched for trial updates, and more importantly, requests for volunteers. We desperately wanted to fight back and retain as much function as possible for Alex.
In the Fall of 2016, Nusinersen released more positive results from their trials of patients with later onset SMA. The data was so promising that they were granted Fast Track Designation and Priority Review in the U.S. in October, 2016. This meant that the FDA approval could happen much sooner than originally expected.
December 23, 2016 was already slated to be an exciting day for our family. We were making the trip to finalize our adoption of our fourth son, and designated chomper, a golden retriever we named Charlie. We knew that there was a good chance that the FDA would release their approval decision on Nusinersen but were nervous that it would only be approved for Type I (not Type II). We were also nervous about the cost and whether insurance would cover such a new drug.
“Oh my God!” my wife said while holding back tears. “They approved it! They did it!” she said. I could barely focus on the road while driving. “Is it approved for ALL types?” I asked frantically. She was rushing through the Biogen press release to get answers, never more frustrated by the speed of her phone.
She broke down in tears with a big smile on her face. That’s when I knew that this was it, my son will get a fighting chance! “It’s approved for all types!” her voice broke up. All of that emotion was later expressed in the biggest hug to Charlie when we arrived at the breeder. We couldn’t contain our joy in having him be a part of our family while simultaneously experiencing newfound hope for Alexander. It was a good day and we were ready to do whatever necessary for his treatment of Nusinersen (now called Spinraza).
…and a Happy New Year?
And fight we would have to do. This medicine was more expensive than we could have possibly imagined. In fact, it is the 3rd most expensive drug in the the world. How is our modest West Virginia family going to make this happen? Even with the tremendous amount of support we’d received (read: showered with generosity), there was no way we could afford this type of drug. It was a little scary. We were not deterred.
We lobbied hard for Alexander to receive his treatment through the hospital, our insurance company, Biogen, and the specialty pharmacy. For months we had been passed around, moving from missing paperwork to drug approval to outright denial. It was exhausting, but it all culminated into Biogen placing Alexander into their free drug program. This was great since it covered the most expensive part of treatment, but alas the fight wasn’t over.
The procedure itself would also need to be covered. Some insurance companies have been approving the medication only to not approve the actual procedure. This seems like a cruel PR stunt that saves their bottom line while “approving” the medicine.
Not April Fools
We were finally scheduled for our appointment on April 18th, 2017. This made it real, but we were careful to not immediately commit our emotions. We know the drug is covered for this year but we still don’t know if our insurance will end up covering the procedure. We may end up paying for the procedure out of pocket, a relatively small price to pay compared to the cost of the drug.
We arrived at Ruby Memorial Hospital at noon to visit with Alexander’s Neurologist before his scheduled injection. We were creating a benchmark of Alexander’s physical abilities so that we could later measure his possible progress under treatment. After meeting with his doctor and staff advocates, we walked (and rolled) to the Pediatric Intensive Care Unit (PICU) to receive our injection.
Alexander’s PICU Hematologist soon arrived while we were in the waiting area. He applied a Lidocaine patch to Alexander’s back to numb him for the lumbar puncture procedure. After about an hour with the patch, we were lead to a room to receive our shot.
“Scary” Alexander said when we entered the room. He is still anxious in hospitals even though they are a frequent stop for him. We placed him in the bed while PICU staff showered him with cars, stuffed animals, coloring books, play dough, and stickers. He even had a visitor with an iPad held up with Mickey Mouse on screen to comfort him.
The doctors and staff were hoping to avoid sedation for Alex since there are many risks for SMA sufferers under sedation. We wanted to avoid the possibility of intubation at all costs! We were asked to leave immediately before the procedure to make things easier on him and us. We were only gone 8 minutes before being called back to comfort him post-procedure. Thankfully, they didn’t have to put him under for the injection!
We stayed 30 minutes while he was being monitored to make sure everything was fine and left the hospital soon afterwards to rest in our hotel room.
What to expect?
We go back for our second treatment on May 2nd. The first 3 loading doses are injected in 14 day intervals; the 4th loading dose is administered 28 days after the 3rd dose and a maintenance dose is administered once very 4 months thereafter.
Each treatment presents a risk of causing spinal headaches (post-lumbar puncture syndrome) and meningitis. Alex experienced a spinal headache today that caused him to throw up each time he would sit upright. We were instructed to give him caffeine and to let him rest on his back. A blood patch follow-up injection is required when the condition doesn’t subside on its own. As I’m writing this, Alex has been able to sit upright and eat. We know now to be more careful in his positioning after future Spinraza treatments.
Spinraza isn’t a cure and we know that it doesn’t always work for all patients, nonetheless, we are filled with hope and encouraged by the positive experiences of other families. There is an overwhelming feeling that we are doing the best we can, that we are fighting back given the options available to us.
There isn’t any long term data for us to go on, but we do know that there are many Type II patients who have shown significant positive motor and strength improvements over a 2 year period. We would love to see Alexander improve his arm strength to make eating easier and driving his “Go Go” Wheelchair more manageable. It would also be great if he would get less fatigued throughout the day. Some days he lays to his side, resting on the couch arm or on his table by bedtime.
At a minimum, we want this to stop the progression of the disease. We haven’t had any breathing and/or eating problems or ICU stays yet and he even fought the Flu well a couple months back. Keeping this level of strength moving forward would be a reduced victory, but still an overwhelming win for Alexander.