By Pat Furlong and Sheila Moeschen
Consider this: At 90 years old, my mother still spoke about the Nun from her grammar school who tapped her on the shoulder and said, “You are nothing like your sisters and brothers.” The sentence formed a toxin, a slow drip into the bloodstream feeing heart and mind. You are not as smart, not as good, not as capable, and will amount to nothing, whispered the poison. Despite this, my mother was the magnet, the glue, the person everyone turned to in a time of need. Her greatest achievements in the family were related to her connectedness and to the relationships she nurtured.
Or this: I’m a new mother having just given birth to my son, Chris. My husband was the new physician in town. Appearances must be made; appearances must be kept. I wanted to wear something lovely for me, for him. In the department store, I describe this occasion to the sales person, adding we had just brought home our beautiful son, and could she assist, speaking in a code that all women know: Make me look and feel beautiful again, if only for a few hours. She returned my request with an eye-roll, language of the body, and giving me the once over said: “Short, fat girls are cute and chubby. YOU, my dear, are just BIG.” Too much, not fit, not right, her words becoming snakes twining themselves around my precious, already drowning self.
Words Matter
Now consider how words matter to the family with a new rare diagnosis. The words loom large and terrifying; they rush over that family like a tsunami of syntax and jargon and meaning that days or hours later they will only begin to grasp. Duchenne. X-linked. Loss of function. 100% fatal. No cure. No hope. From these seeds sprout a new and bewildering jungle of terms: patient journey, trial burden, disease progression, inclusion/sheilexclusion criteria. It is the lexicon of their new world, just as in Christian mythology the creation of the world began with an utterance: Let there be light.
Clinicians, providers, researchers reach, again, for this kind of performative utterance–Let there be light–in many forms, including gene therapy.
To the researcher/provider the words are hope, progress. They place these words, which become ideas and ideals, on a vast arc that includes families and generations. Their lens is wide. The family’s lens is a pinprick, the aperture incredibly small. For them, the words land differently. “My son will LIVE,” they hear. “He will have a NORMAL life and my family will make it through this.” “We are all going to be OKAY.”
Hope doesn’t stop being personal in a clinical setting.
Let’s stay with this word that matters a great deal for a moment.
It is a term framed in multiple ways: False hope. Unrealistic hope. Realistic hope. But who defines the term? Hope is a piece of clay shaped by the hands that hold it. Those directing research studies who find success in animal models. Investor calls emphasizing the exciting possibilities the future contains. Clinicians who recruit for a study remain hopeful they will have a profound impact on the trajectory of disease. And then there is the hope that lives in social networks, powered by well-meaning individuals who share their views without restraint, by the guilt-laden family anxious to do everything and anything in their power to help their child. And let’s not forget the child caught up in hope’s wake. They ride the tailwinds of their parents’ wishes for this “magic medicine,” for the promise of “one and done.” And they grapple with what remains when that invested hope sputters out–when the trial or therapy does not meet expectations. Ask any family with a rare disease diagnosis and they will tell you how their experiences and perceptions forges itself around so many definitions of hope.
Enter Gene Therapy
Gene therapy wants to play Superman, capitalizing on hope and possibility. We talk about “early days” without providing context. The endgame is the hope that genetic therapies BECOME Superman. The short game is hope in provisional form: that we learn from early studies, that we gather more information about safety, durability, efficacy; that we work responsibly to get better at building Superman’s suit. All of this takes time and the willingness to put in the effort to learn about the science and the real lives it impacts.
What does hope look like and how do we responsibly manage the language around hope?
To the individual patient and to their families, hope waits to reveal itself. It has no form or has a clouded form until it is given, granted, by medicine, by science, by the healthcare agencies, by physicians, by the stories told to them like fables: “After taking the magic drought, the mouse’s leg strength improved.” To me, this seems like a difficult place to be: an understudy waiting in the wings while the rest of the show unfolds to potentially leave you behind entirely. The question isn’t how do we continue to support medical progress such as in the case of furthering critical gene therapy, but how do we do so without losing sight of the real, living people at the center of trials and research. How do we ensure that hope–something, I would argue, is equally as critical to science and medicine as approvals and trials and funding and remarkable minds toiling in labs–is inclusive?
Time is hope’s precious commodity. In the world of rare disease, waiting is a thief intent on stealing health, function, opportunity, and hope. Few slots in clinical trials, in progressive therapies, mean fierce competition. This is the skewed, but very real, arena that patients and families enter. Some possess resources and luck and privilege. Others do not. And so they wait. They take their place alongside the thief they fear, holding tight to one another and the words they keep close: hope and time.
This is the Story of Numbers
1 in 10 people live with a rare disease. 50%: of individuals with a rare disease are children. 30% of those children will not live to celebrate their 5th birthday.
It is a, regrettably, unfairly young population who will demonstrate benefit should the gene therapy be successful. For a precious few, hope is restored, future plans that dissipated suddenly come back into focus like a deer stepping out of a foggy wood. And for the rest there is a return to research and conferences and experts and supporting work going on elsewhere that might be the right break-thru, that might be the right trail of crumbs that draws hope out of its hiding place toward them. And when the laptop gets closed, life speeds along. Birthday parties get scheduled along with haircut appointments and parent-teacher meetings and a thousand other things that make up family lives. Life is not suspended between trials. It does not wait for the right break-thru. If the Internet has taught us anything it’s that it refuses to pause during respectable sleeping hours. Life is annoyingly and blessedly relentless in this way. Well, so is hope.
We live in remarkable times. We essentially manufacture miracles or at least give everything we have trying. Trials, experiments, cutting-edge research–vital steps forward. Worth every effort. Worth the risk. Worth the courage it takes for even one researcher, one family, one physician to fuel a process that is not smooth or guaranteed in any way. But perhaps these things should not be confused with brass rings. Perhaps they should not be couched in optimistic phrases such as “one and done” when it is a life, a wholly realized human being whose story continues long after the papers are published and the drugs are approved and sold. Perhaps they should not be made to carry the entire burden of hope for everyone.
Hope is personal.
Pat Furlong is the Founding President and CEO of Parent Project Muscular Dystrophy (PPMD), the largest nonprofit organization in the United States solely focused on Duchenne muscular dystrophy (Duchenne). Its mission is to improve the treatment, quality of life, and long-term outlook for all individuals affected by Duchenne through research, advocacy, education, and compassion.
Sheila Moeschen is a Boston-based writer and author of The League of Extraordinarily Funny Women: 50 Trailblazers of Comedy (Running Press). She holds a PhD in Theatre & Gender from Northwestern University and currently works in the non-profit space consulting and writing about story, language, and creating connection.
