I am a freelance columnist for Friedreich's Ataxia News. I was recently published on my column, My Darling Disability, and I wanted to share it here, too. You can either read it by following this link, or just keep scrolling below.
When diagnosed with Friedreich’s ataxia, the first things people usually ask are: “What can I do about this? Is there a treatment or cure? Where do I sign up?” Then, we receive more bad news: Currently, there is no treatment or cure.
But there is a ray of hope. Many passionate and dedicated teams of professionals are working hard to develop a cure. Clinical trials are taking place in the U.S. and all over the world, including in Italy, the U.K., and Australia. These trials target different approaches to slowing or stopping the progression of various FA symptoms and effects.
The good news is that we know exactly what causes FA, which is genetic, meaning I received a faulty recessive gene from both parents. FA is caused by a communication mishap in the central nervous system. Basically, our cells, which get their road map from our DNA, don’t replenish and rebuild correctly. They lack a vital energy-producing protein called frataxin.
Therefore, our central nervous system can’t communicate effectively with our bodies. We become less coordinated as a buildup of ineffective cells grows. Our damaged cells slowly start to outnumber the good cells, leading to a progression of our symptoms. So, we need to fix that.
I started my first clinical trial this year, a 48-week, double-blind, placebo-controlled study. As I understand, the investigational therapy is designed to recognize the energy needs of my cells and enable my cellular metabolic rate to enhance my damaged gene expression. In layman’s terms, the molecules in this treatment attempt to make the cells in my body that are damaged by FA work more efficiently and more normally. I’m hopeful that this might slow down my disease’s progression.
It took me a while to decide to participate in a study. I knew that it would be a big commitment of time and energy. I would be putting unknown medicines in my body in the name of science, with the hope of finding a treatment for my progressing symptoms. I also knew that I wanted to have kids, despite FA. I wanted to do this before participating in a trial, due to the fear of potentially lasting harmful effects the investigational treatments might have. When we finished having babies and I was done breastfeeding them, I decided it was time to dedicate my body to FA research.
Coincidentally, researchers were actively recruiting for a promising Phase 2 trial. So, I signed up.
I was right — a trial is a huge commitment, not only for me, but also for my entire family. It was very emotional. I think this is largely because it is a placebo-controlled study. This means that half of the participants receive active drugs, while the others receive a placebo. The trial also is double-blind, so no one knows if I receive the actual treatment or not. All of the visits, the flights across the country, the nights away from my children, the money I know the pharmaceutical company is shelling out for my participation — it all could be for nothing, in my opinion. I know the placebo is needed for control, but it is hard to convince myself that all of this is worth it for a sugar pill.
Every day, I go through so many thought cycles. I think, “Well, my speech seems a little better, and I’m choking less, so maybe it’s actually kind of working!” Then I had to start using my walker full-time because my coordination became so poor. I tell myself, “Well, I guess it isn’t working, because I am still progressing.” Then, I ask myself, “Do you think it has lessened progression, as in I might have delayed the walker by a month or two? And if I hadn’t been on the trial, maybe I would have started using the walker in November instead of January.” I have all of these thoughts, plus many more, and there’s a 50 percent chance I’m not even on the treatment! It’s emotional, to say the least.
At the end of the day, I am glad I am participating. Yes, it’s a lot. But I know that at the very least, I am providing scientists with valuable data on FA progression. I am happy to do my part as a “lab rat” in the hopes that we, as a community, are that much closer to a cure.
To follow my clinical trial journey, check out #KendallRTA408 on Facebook and Instagram.