Time.

I have been meaning to write an update for some time.   I meant to write in September, after we learned some not-so-good news about the drug trial.  I meant to write again when I got retested in October and got a crazy low score.  I meant to write in January when I got retested AGAIN and my score went EVEN LOWER.  So many times I have meant to write, but, as they say – life got in the way.

But, today is Mother’s Day, a day that stings for me each year as I grapple with no longer having a mother and not being a mother myself.  Mother’s Day is a good reminder of the impact ataxia has had on my life, and will continue to have in years to come.

Seems like it is time to write.

First, the good news.  Tomorrow will be two years since I shared that I had ataxia.  When I told my friends and family I had been diagnosed with SCA1, I could not have possibly predicted that two years later I would be healthier than when I was diagnosed.  That is just not how a degenerative disease works.  However, as you know, I changed my diet, went to physical therapy for about a year, and started a drug trial in 2017.  The last of these things has been the most important to my overall health.  Since I have been on the drug trial, my SARA score has dropped to 1.5.  Let’s process that for a moment.  ONE POINT FIVE.   My last test in April (about three weeks ago) and my test in January held strong at this number, so we think that I have leveled off and it is likely that due to the drug’s neuro-protective properties I could remain stable at this low number for awhile.  It is really incredible.  Other than some difficulty on stairs (which continue to be my nemesis), you would have no idea I even have ataxia.  Given that the general progression of the condition is around 2 points per year, I should be around a 10, but I am not.  To put it another way, that’s four more years of me being me.  Hooray for that.

But now the bad news.  In September, we learned that the initial results of the drug trial (the period that had been a blind trial) were inconclusive.  People who received the placebo did better than they should have, so there was no real difference to being on the drug or on placebo.  When you think about it, that makes a ton of sense given that the blind portion of the study was only two months long and the participants were all people whose lives depend on the drug working.  Of course people on the placebo were going to do well.  The mind is a powerful thing.  A mind filled with hope is even more powerful.  (Don’t believe it?  The only time I have fallen in nearly two years was the day last September I found out this news.  It is crazy, but it is true.)  People without hope were given a magic pill and told it very likely could help them extend their ability to walk.  So no matter whether they were given the real drug or the sugar pill they improved.  It isn’t like the drug didn’t work.  It did (at least for some, although I am told there were a ton of people who did not experience improvement, which may be because everyone received the same dose regardless of weight, height, age, or physical progression).  And it isn’t like there were bad side effects.  There weren’t.  But because of the high placebo effect, Biohaven was unable to move forward with expediting the process to get the drug approved and will need to further study the drug.  At this point, I am told there is no timeline for getting the drug approved and the likely next step is to hold another study down the road where the dosing is increased.  I would hope if they do that they also increase the time “in the blind” since the placebo effect appears to be very strong in the ataxia population.

Which comes to the second piece of bad news.  It appears my time on the study will be coming to an end in August, at which time I will no longer have access to the drug that has been instrumental in reversing my coordination issues.  At that time, there are likely to be a few options.  I am told there is another drug trial starting at the end of the year that similarly targets the same brain cells that the Biohaven drug has been targeting.  While it is not the SAME drug, it is functionally similar, and so I may be able to take it and see a similar effect.  (Of course, I could also enroll and get put on the placebo.  Since the trial is not currently active, I do not know how long the blind portion of the trial will be.)  I may also be able to get a prescription for the most similar drug currently on the market, which is being used in Europe (and in the US for ALS, I believe).  The problem with that option is that I am more likely to experience side effects.  Unlike the Biohaven drug, the European formulation is processed through the liver, has to be taken twice a day with food, and who knows if it would be approved by my insurance.  Being in limbo, at least for the time being, is hard.  Harder still is knowing that the Biohaven drug appears to be perfect for me but I will have absolutely no way to get it.  But that appears to be where we are at for now.

Which brings us to the present.  Why share this today, of all days?  Besides being long over due, today was the right day to come back into the light for other reasons.  After I spent my morning looking through pictures of mothers with their children, I realized how badly I longed for mine.  I know not all of you are on Facebook, but for those who are, it is a place for, among other things, reminiscing about the special events and special people in our lives.  I generally like those reminders.  Today, however, reminders are tough.  I am reminded that this is my seventh Mother’s Day without a mother.  I am reminded that my mother wasn’t at my engagement party, or my wedding, or there to see me graduate from law school.  If I wanted to call up a picture of her from those special events in my life, I couldn’t.  I am reminded that my last pictures of my mom were from her 60th birthday party, when she could barely speak, was in a wheelchair and needed to be fed.  If I want to find a picture of us before the ataxia took over, I would have to look back to a time before digital pictures, when I was still using Kodak film (if I was allowed to get the expensive stuff).  I am reminded that I missed her last Christmas, the day I got engaged 3,000 miles away.  I am reminded of so many other times I should have been there, but I wasn’t.  I am reminded that she loved me regardless.  I am reminded that she loved key lime pie and Disneyland and roses.  I am reminded that she was a terrible cook but incredible grocery shopper.  I am reminded that she had seen every episode of the Twilight Zone and loved astrology.  I am reminded that she had about 100 decorations for every holiday and that she introduced me to Joni Mitchell.

I am reminded that for as much as I fear the unknown road ahead, her road was harder, and she braved it all with levity.  She was always smiling, laughing or joking.  Her voice started to change and she started calling herself a 100 year old parrot.  She lost her ability to walk and bragged that she would never have to wait at another line at Disneyland.  She drank champagne with a pink straw until the very end.

I miss my mom, so very much.  I miss her every day, but today more than most.  I wish she had had more time.  I wish she had had the chance I am being given.  I know she would have made the absolute most of it.  I know she is challenging me to do the same.