This month marks 13 years since my sister’s diagnosis of CLN1 disease, or Batten disease. That means I’ve had 4,745 days — or 113,880 hours, or 6,832,800 minutes — to get used to the thought of outliving her, even though she came into the world on a warm August night when I was already a high school junior.
Taylor and I made a lot of memories together before she passed away last fall. Perhaps none was more time-stood-still vivid than the week I spent in Portland, Oregon. I made the 2,800-mile trip to be with my sister for her surgery at Oregon Health & Science University. It was January 2008, and a Phase 1 clinical trial was the occasion.
I wrote about the experience in my 2018 book “Run to the Light“:
“I remember being surprised at how easily I absorbed the details of such a risky, grisly surgery with so many unknowns. On one hand, it was tough to think about putting Taylor, a little girl who looked mostly healthy, through such a terrible medical ordeal. But I already understood that even if she didn’t look like she was dying, my sister was dying. That made taking a big risk a hell of a lot easier for us.”
Generally speaking, there is a common myth about clinical trials. Many people believe participating in clinical research provides no benefit to the patient. Some patients whose conditions do not improve with an approved drug or treatment will opt to take their chances and ride out the storm rather than sign up for a clinical trial.
But rare disease turns conventional thinking on its head.
It’s easy for patients and families facing a devastating, ultra-rare disease like CLN1 to put too much faith in a clinical trial. (I understand. I’ve been in their shoes.) Trials represent a critical step on the path to approved, effective options. But just like treatments available on the open market for everything from headaches to heart disease, clinical trials aren’t right for every patient or every situation. They aren’t guaranteed to work.
I couldn’t save my sister, but I’m still a rare disease advocate because I want to help save the next Taylor. I’m proud to have played a small part in the development of a gene therapy for CLN1 disease now in the product pipeline at Abeona Therapeutics. (Want to learn more about that journey? Attend my session at the Global Genes summit this fall.) I know a girl who will be smiling down from heaven the day the first child is treated in this program.
If you’ve hoped and prayed for acceptance into a clinical trial — for yourself or someone you love — following are a few things I’ve learned in my work as an advocate:
- Science is amazing. Science is also really, really hard. And science is not perfect.
- The first goal of a clinical trial is to determine whether the treatment is safe and effective in people.
- The second goal of a clinical trial is to commercialize the treatment so that many patients can benefit from it. If a trial sponsor includes patients who are too sick (or not sick enough) or simply not right for the study for any of multiple reasons, they could put this goal at risk.
- Trust the team that made the trial possible and the doctors, nurses, and support staff at the trial location (a hospital or other medical facility). They come to work every day because they want to make things better for patients.
- If you’re lucky enough to get a shot, listen to your gut. Listen to your heart. Listen to your head. Do it because you’ve researched your options and decided that saying “Yes” is better than saying “We’ll wait for the next thing.”
The world has changed so much since Taylor’s surgery on that cold, damp January day over 11 years ago. My sister came along at a time when regulatory restrictions made it tough to move science forward and get treatments to patients who needed them most, especially if those patients had a rare disease. Today, the system recognizes the value of early intervention. Treatments are more effective, and more life quality can be saved, if we help patients earlier.
If you’re fighting something like CLN1 disease, you know what it means to have a chance, as my sister had:
“I understood more than ever that we had to have faith, because we were in a burning building, even if we couldn’t yet see the flames. An experimental stem cell transplant didn’t come with any promises, but it gave us a window. And if you’re stuck in a burning building, you jump.” —”Run to the Light”
Note: Batten Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Batten Disease News or its parent company, BioNews Services, and are intended to spark discussion about issues pertaining to Batten disease.