A New Spin on the Future

Twenty three years ago, we began a journey that no parent ever wants to take.  We were concerned because our 16 month old son was still not walking.  At eleven months he was standing at the edge of furniture and trying so hard to take that first precious step.  That first step never happened.  Shortly before he turned a year old, all attempts to stand stopped.  He had an ear infection and he just couldn't seem to get past it.  We spent the next four months trying to find out what was going on.  It took three doctors in two different states to pin down why he wasn't walking.  At 16 months we took him to Riley Hospital in Indianapolis to figure out. exactly what the problem was.  It took us two more months to get a name for the problem.

One afternoon we got a call from one of the doctors in Indianapolis, asking us to please come to Indianapolis to get the results of all of the tests that had been run.  The wouldn't tell us anything over the phone.  That is never a good sign.  We drove the two hours from our home in Marshall Illinois to Indianapolis.  The doctor asked us into his office.  He told us, your son has Spinal Muscular Atrophy.  We had never heard those three words.  He explained that it is incredibly rare and that most family physicians will never encounter a case of SMA in their entire careers.  He said that he saw about 6 cases a year.  It was genetic, and both David and I had to be carriers of a defective gene.  Not only that, but we had a 25% chance of any future children having the same condition.

We would later learn that the gene that caused SMA had just been identified.  It was a defect on gene 5.  This defect causes a disruption of the path of nerves that send messages throughout the body.  There was no cure for this condition and no treatment.  Our son would never walk and would not likely live to adulthood.  The doctor told us that there was a great deal of research going on in this rare condition and in a couple years there would be a cure.  We were very fortunate.

Those of you who know me well, know that I take things by the horns and work for the best possible outcome.  I am not satisfied being a statistic and I will not accept there is nothing we can do for an answer.  I set out to find the best doctors and best therapists for my son.

Fast forward to December of 2016.  I had known for a while that a new treatment was being tested for people with SMA.  It was currently being tested in babies and young kids with Spinal Muscular Atrophy, mostly type 1s with the severest form of the disease.  This type is fatal and without a great deal of intervention, these babies die before their second birthday, usually shortly after being diagnosed.  Adam was a type 2 or Intermediate Spinal Muscular Atrophy.  He was too old for any of the trials.  I was carefully watching the research and the projected timeline.  Even though we hadn't seen a neurologist in years, I made an appointment, knowing that this was our key to any chance of getting the new drug.  In December 2016 the FDA shocked everyone by approving the new drug that would be called Spinraza for all types of SMA, not just the kids with Type 1.

Within days, I had a phone call into Biogen to find out how I could get this drug for Adam.  On January 11, 2017 we met with the neurologist to find out how we could get this drug.  The doctors had been caught off guard and had no plan in place for treating adults with SMA.  They assured me that I would be contacted when they were ready to begin treating.  Months went by and we still hadn't heard anything.  In July, we went back for a follow up appointment.  The doctor said those wonderful magic words, Lets do this Spinraza thing!  He started scheduling Adam for a long list of tests in preparation for the procedure to administer Spinraza.  In addition to getting all of the pre-tests down, we had to get insurance approval.

It took us another 8 months to find out that both forms of insurance refused to pay huge per dose cost of this medicine.  Fortunately, Biogen has a program to donate the drug to people who aren't able to get their insurance to cover the four loading doses that have to happen in the first 60 days.  After receiving the call from our Biogen representative about the donation, we thought we were ready to go and I waited anxiously for the date of our first dose.

It would take me another month of testing and two more trips to Chicago to finally get our dates.  April 20th, Adam will receive the first dose of Spinraza via a lumbar puncture at Northwestern Memorial Hospital.

I find it ironic that it has taken 16 months to get this for Adam.  The exact amount of time it took us to discover why he wan't walking.  It is even the same month 23 years later.

There is very little known about how Spinraza will work in adults.  Remember, we were told that Adam would not live to adulthood.  There are not a huge amount of adults to use for the trials so it didn't happen.  Biogen says that Spinraza will stop the progression of SMA.  That is the goal of the medicine.  Other people have experienced an increase in strength after receiving the medication.  It is not the intended goal, but is a bonus if it happens.

On April 20th, we begin a new leg of this journey.  This time the journey is filled with hope.  Only God knows how Adam's body will react to Spinraza.  We are looking forward to seeing how Adam's future will be impacted.  The cost of this drug is huge, but for us, hope is priceless!