In the harsh, overhead light of the ER the ICU doc turned his attention away from my daughter to direct his gaze upon me. Two other doctors flanked him on each side. I felt overmatched. I hadn’t slept for two nights and it was probably now around 3AM of the third night. I looked back at my 12 year-old daughter, Talia, lying semi-reclined, her little body engulfed by the giant hospital bed. A clear, plastic mask covered nearly all of her face, save for her blue-green eyes and honey-colored hair. She was asleep. Finally. Her cheeks pink, her breathing less labored. An aura of purple light surrounded her.
The flu was raging through her body, making it difficult to breathe or even hold her head up. Already weakened by a rare neuromuscular disease known as CMT4J, the doctors were concerned Talia may need intubation—a tube placed into her windpipe to take over for her breathing. At the very least, she would need time on a bipap machine to help both push air into her lungs and pull it back out again. CMT4J had even stolen her muscles used for breathing.
In my advocacy work for Talia’s ultra-rare disease I had written about and spoken to the deadly potential of the common cold or the flu, but I had never actually experienced it. Until now.
Charcot Marie Tooth Type 4J (CMT4J) is an extremely rare, progressive disease similar to ALS. With only a few dozen cases known throughout the world, people with CMT4J can exhibit a variety of symptoms and have different rates of progression. In the last two years Talia has gone from navigating the world in her little, yellow walker, to using a wheelchair. She has lost the use of her arms. She can’t roll over in bed. And now breathing is made difficult by the loss of muscles needed to inhale, exhale and cough.
The road to a diagnosis of CMT4J was long and tortuous. After years of treating for something else, with periodic hints of improvement, but continued progression, we finally received news no parent wants to hear: a neurodegenerative disease with no treatment or cure. No hope. How does one live without hope?
Those first few days—perhaps a week or so—were dark with despair, anger, and sadness. But soon I came to realize the anxiety-ridden, sleepless nights wouldn’t make Talia better or help me get through the challenging days ahead. I had to DO something. Like most parents, I looked to the internet in search of knowledge and hope. I spent hours in the glow of my laptop, late at night, discovering things I didn’t want to know about Talia’s disease, but I also discovered the same researchers’ names appearing on papers again and again. A handful of people actually knew a lot about this disease. And several months later, I met one of them who believed that perhaps there was a cure.
Gene therapy had the potential to halt disease progression and could even reverse some of the devastating symptoms already present. But there was a catch. We would likely wait a decade or more to see anyone tackle the research necessary for such a rare disease. We knew we didn’t have that kind of time with Talia. Something had to happen fast. But how? Who? I quickly learned it would be me.
Within 24 hours I was introduced to a world of parents driving cures for their children. Social media and the internet seemed to be teeming with Moms and Dads desperately pushing the science and funding to save their kiddos. Many of them became my mentors. Like them, my husband and I formed a non-profit foundation to address an expedited path toward a treatment for Talia and others with CMT4J.
Within a few weeks we raised the money to host a conference to address developing a treatment or cure. Within a few months we gathered the experts at the first-ever symposium on CMT4J. They all agreed that gene therapy had the greatest potential to treat Talia’s disease. A few months later we would start pre-clinical work, testing gene therapy in mouse models, our foundation, CureCMT4J, funding the viral vector used to treat our mice.
Fast forward 18 months from the start of our foundation and we have now raised over $1 million, our pre-clinical research is nearing completion, and we have begun work on our approach to the FDA regarding a human clinical trial using gene therapy to treat CMT4J.
For such a rare disease, the rate at which our research has progressed is typically unheard of, unless you dive into our world of parent-driven cures. No one knows the urgency necessary to tackle treatments for their children better than parents. Researchers, though, are quickly learning to hitch their wagons to the unstoppable force of a parent’s love for his or her child. They know their science will get out of their labs and into the patients that so desperately need it.
Talia desperately needs the funding for our science to move forward. She did recover from the flu. She did not need to be intubated. She surprised those ICU docs with a speedy recovery that had me weeping with joy the next day, realizing she had turned the corner when she asked to borrow the ICU nurse’s pager to make a phone call!
On this World Rare Disease Day I am grateful for the ever-increasing research aimed at treating people like Talia. I am hopeful that rare diseases will garner the attention and funding they so desperately deserve. Over 7,000 rare diseases exist, affecting over 350,000,000 people worldwide. At present 95% of rare diseases have no FDA-approved treatment. We need to change that statistic. And though I am so incredibly proud to be included in a long list of parent-driven and patient-driven disease foundations, I long for the day that this is not our reality.
Jocelyn Duff is the Executive Director of CureCMT4J, an all-volunteer non-profit dedicated to developing a cure for her daughter, Talia, and others with CMT4J. For more information or to get involved, please visit www.curecmt4j.org/