Monday, May 22, 2017

The short version of a long story of waiting

One big (constantly recurring) theme in my life this year has been waiting on the Lord, and surrendering to his peace in the long pauses between action and milestones. I wouldn't want to bore you with all the lulls, so I've made a brief timeline for you to see what's been happening over the past five months...

December 24, 2016 - My family received an email notice that the FDA had approved the first drug treatment for children and adults with Spinal Muscular Atrophy (SMA). This is something we did not expect to see in our lifetime. I remember just sitting in the kitchen with my mom, sharing speechless looks of shock, neither of us being able to wrap our minds around the implications of this breakthrough.

January 4, 2017 - I met with my family doctor, who has known me for almost 30 years. I showed him the research I'd found, and asked his opinion. He recommended that we find out if any hospitals in North Carolina were offering this treatment, and had his staff look into it.

January 18 - The nurse at my doctor's office called me with the names of several local neurologists who were willing to attempt the treatment.

February 1 - I met with a neurologist who was very personable and professional, who listened to me and answered all my questions. Because of this, I knew I would feel comfortable taking the next steps.  The treatment is done through a lumbar puncture, or spinal injection, and risks include headache, pain, and complications with kidneys or respiratory health. Most research focuses on young children, and has results such as stopping and even reversing the effects of the disease. She was cautiously optimistic that this drug, Spinraza, would have a positive effect on me, even as an adult with significant atrophy, though the details of that were still unknown. Ironically enough, she said that I needed to have blood drawn for genetic testing, to confirm my diagnosis and qualify me for the treatment. See, as a baby, I had a muscle biopsy, and that was all... that was before genetic testing was really "a thing."

March 3 - My genetic test results came back, and after spending 28 years in a wheelchair, it is official - I do indeed have SMA, Type 2. Here's a good website that summarizes what that means.

May 15 - I talked to a Biogen representative on the phone, and was approved for patient-assistance drug insurance plan. This is incredibly good news, since I only have Medicare, which would pay for 50% of this $125,000 (per dose!) drug. At this time, Biogen also connected me with a counselor/representative/advocate who would follow my case and help me along the way.

May 17 - At a second consult with the neurologist, we set a tentative start date and discussed best options for how to administer the drug.

- - -

Of course, this timeline actually stretches back much further, almost to the beginning of my life. I was diagnosed with SMA Type 2 in October, 1984, when I was 18 months old. At that time, there was very little known about this disease, only about six paragraphs in the medical journals.

I remember praying as a little girl for healing - begging and crying and asking God to strengthen my muscles. It has been a 33-year tension in my faith to accept the truth that my loving, powerful, miracle-working God chose not to heal my body in this world.

And now I have a neurologist who has put in the prescription and ordered my first-appointment base line labs. I am on the "ASAP" list - when Spinraza is delivered to the clinic, we can begin treatments!
Even though I know the risks and how painful and uncomfortable the treatment will be, and even though the extent of the results are unknown, I cannot help but feel hopeful. This research has been progressing for years - since I was a little girl. God heard me, and has been developing a miracle - not just for me, but for thousands of others who are living with SMA.