When Treatment For A Rare Disease Is On The Horizon, Hope Rises — And So Does Doubt
By Joy Aldrich
“There is nothing I can do for you. There is no treatment or cure.”
That’s what a neurologist told us when he diagnosed my mother, brother, and me with Charcot-Marie-Tooth (CMT), a hereditary neuromuscular disease that would progressively get worse as we got older. I was 14 at the time, and my mom was already having trouble getting up and down stairs and with daily tasks such as using a knife, buttoning a shirt, and turning a key to open a door.
CMT is considered rare; it is estimated to affect one in 2,500 people in the U.S. There are several types of CMT, categorized by the type of damage done to the peripheral nerve, but my type, CMT1A, is the most common. Basically, I have a duplication of a gene (PMP22) which is producing too much of a protein, and the result is damage to the myelin sheath that protects the nerves that conduct signals from my brain to my arms, hands, legs, and feet.
Knowing all of this, and being told that there was nothing anybody could do to treat or cure CMT, I went about my life. I filed away newsletters I received from patient groups because they seemed too depressing, but something told me that I might need to refer to them one day.
After I turned 40, I slowly started to notice changes. I struggled to walk up the stairs. Soon, I couldn’t do even two stairs without a railing. I was no longer able to walk heel to toe because those muscles were atrophied, so I started walking like a stork, lifting my knee up high enough to get my feet to clear the ground without tripping. Eventually I went back to those newsletters to seek information on leg braces to help me walk with improved balance and endurance. I also was determined to turn my depression over my lost mobility into advocacy to fight for treatments and a cure.
In 2015 I attended the annual Peripheral Nerve Society meeting and learned that, although I’d been told there were no treatments to help me, there were scientists all over the world working on a cure for CMT! They were working on definitive measurements — biomarkers and clinical endpoints — to one day soon prove that treatments were working. I was thrilled!
More recently I learned that a French pharmaceutical company, Pharnext, is reporting positive results in a Phase 3 clinical trial of its PLEOtherapy drug, PXT3003, for CMT1A. It has been demonstrating not only fewer declines in patient symptoms, but improvements, too. So, if it’s approved, I may even be able to regain some function! It seems too good to be true.
But my mind is whirling with questions, too. How much will it cost? Will insurance cover it? Are there any side effects? What if it doesn’t work for me?
Maybe I’m afraid that it is too good to be true. I’ve become used to the idea that there is nothing anyone can do to stop this disease. I watched my mom go from very active, to limited mobility, to a wheelchair, to death by respiratory failure secondary to CMT, in 30 years. I’m haunted by the shadow her life is casting over mine, but still I’m excited about the hope on the horizon as I eagerly await the Phase 3 clinical trial results.
JOY ALDRICH of Seattle, WA, joined Hereditary Neuropathy Foundation (HNF) as its advocacy director to focus on the growth of HNF’s online support resources for CMT patients and caregivers and to advocate for patient recruitment in clinical trials through Global Registry for Inherited Neuropathies (GRIN), a patient clinical registry.
This guest column appears through the support of Inspire, a million-member healthcare social network that partners with the Hereditary Neuropathy Foundation and 100 other nonprofit patient advocacy organizations.