My daughter is dying. Talia spends many days tethered to her cough assist machine. Her sentences cut short by breathlessness. Her frustration mounting as her disease interferes with some of her favorite things — talking, singing, storytelling … living.
Her bedtime routine becomes a controlled panic rush to start her bipap, a machine that acts as the breathing muscles she no longer has. I fit the clear mask snugly to her face, my fingers fumbling with the straps. Her blue-green eyes peer up at me anxiously and then soften as the click and hum of the bipap take over.
“Phew,” she whispers in between breaths. “I feel better now.”
Her chest rises and falls with greater ease. I study the numbers on her oxygen and heart rate monitor. She is asleep quickly.
I glance at the lineup of clothes, back brace, knee braces, and leg braces ready for school tomorrow. Her wheelchair and its headrest, glowing from the string of fairy lights surrounding her bed, casts a sad shadow like that of a small child, slumped in sorrow.
I turn away, kissing her forehead gently and push away the fearful thought that so often creeps in at this time of night: Will she be here in the morning?
The absurdity and sadness of it all catches in my throat. No parent should have to think such things. But I am a Rare Parent and this is what we do.
Diagnosis
Talia has a rare disease that affects approximately 30-50 people in the whole world. It’s name, CMT4J, an acronym of letters and numbers that classify her as an ultra-rare form of Charcot-Marie-Tooth disease, means nothing to most people — to most doctors, even.
Her diagnosis, delivered to me by phone after years of misdiagnosis, came with a brief sense of relief, followed by a silent scream of heartbreak and anguish, as I read the internet descriptions of her disease: “similar to ALS,” “progressive,” “death from respiratory failure,” “no treatment or cure.”
Like many Rare Parents, we were told there was nothing anyone could do.
For weeks, sleep evaded me as I thought about losing my girl. How could we do nothing?
Taking action
Eventually, I decided nothing was unacceptable. And so began long days and nights of research, tracking down scientists, poring over papers, and then, I found them — the other Rare Parents and their children, a community of brave, inventive, passionate, desperate moms, dads, and patients all focused on finding and funding cures for their children or themselves.
Because many of these diseases affect so few people, it can be difficult to attract the attention of pharmaceutical companies to invest in research and developing treatments. Rare Parents must become self-taught scientists, multi-million dollar fundraisers, business executives, community organizers, advocates, and marketing professionals. The goal: to defy traditional research timelines of decades and billions of dollars to develop safe, effective drugs. The catch: to do it in time to save the lives of their children.
Like so many others before me, we started a non-profit foundation, CureCMT4J, dedicated to expediting treatments for my daughter’s disease. We found others. We connected with families around the world, with all sorts of rare diseases. We created a scientific team of experts.
Within 18 months, we paved a path forward with gene therapy, showing safety and efficacy in CMT4J mouse models, and raising over $1 million with the help of our beloved community and 6,000 donors from around the world.
Now we are in the midst of a natural history study to better understand the disease. A clinical trial is on the horizon. This in three years. So fast compared with the historically slow, glacial pace of research.
So slow in the face of a progressive, deadly disease.
Heavy burden
So much is sacrificed along the way. Careers are halted. Marriages break from the weight of so much stress and grief. We care for our medically fragile child. We comfort our other children, shoring them up for loss, and loving them with a panicked ferociousness for fear of losing them in our desperate attempt to save their sister or brother.
All too often what starts as a sprint toward a cure dissolves into a painful, marathon slog caught up in the channels of drug development not meant for rare, progressive diseases. Rare Parents must decide to persevere, knowing their child will not be saved in time, or abandon the fight to make memories.
- Over 7,000 rare diseases exist in the world.
- More than 50 percent of these affect children
- 95 percent of these have absolutely no treatment or cure
The path forward
Rare is common but it needs greater support.
Rare diseases need a universal infrastructure that addresses all aspects, from diagnostics to therapeutics, with a lower threshold for risk and a fast-track urgency for the progressive, degenerative nature that challenges so many of them. Small, experimental trials designed with the potential for treatment in mind, and not the slog of incentivized drug development, need to be encouraged and funded.
Because of the collective force of the rare disease world, industry and government are taking notice. Personalized medicines and small trials are gaining a foothold, creating opportunities for faster, effective treatments.
The rare disease community is only growing with the advent of improved genetic testing and sequencing. We need to develop a parachute of hope to connect these parents and patients with researchers, funders, and bench-to-bedside thinkers.
Rare diseases serve as the guinea pigs for translating similar paths to more common diseases. Rare Parents are willing to take these risks. They have nothing else.
I am a Rare Parent. My daughter wants to live.