These stories are, unsurprisingly, the ones in the headlines. But as science moves forward, there are an increasing number of people like Mr. Parish. There are life-changing treatments available for his disease, but they seemingly cannot reverse the damage that has already been done. A growing population of patients is faced with a challenging question: What is it like for those who know that their disease could be cured or significantly managed within their lifetime but that they won’t be able to — or might choose not to — see that benefit?
“When I talk as someone who is older, who is ‘missing out’ on some of these things, it’s not from a bitter place. It’s from a place of, ‘Thank God that these younger people are born at the right moment in time,’” Mr. Parish told me. “I love the idea that a kid can be born with S.M.A. and never know the infinite desperate medical situations, the social situations they’re going to be able to avoid.”
Mr. Parish spoke to me with the aid of a “speaking valve” on his tracheotomy tube, pausing every now and again to move his head backward, which was a more comfortable position for him given the severe curve in his spine. He had initially been admitted to a hospital in Miami, where he lives part-time. Pneumonia led to the need for a breathing tube and an urgent transfer to a hospital in Boston for the tracheotomy. From there, he had been transferred to the long-term hospital, where he was briefly my patient. He had already learned to adapt to so much — the power wheelchair, the inability to turn himself in bed — but this would be something new. The possibility of a ventilator at home at night would mean eight hours without his voice. It scared him.
It is a strange time for Mr. Parish to face his most life-threatening medical catastrophe, just as modern medicine offers hope for children born with his disease. When he was growing up, in the 1980s and 1990s, there was no talk of gene therapy. The doctors had told his mother to take him home and love him. His nerve cells would die, his muscles would atrophy and he likely would not live beyond his second birthday. It was one of the first things he learned about himself: that he had a disease that would shorten his life. This knowledge made him hungry to experience all he could in whatever time he had, to feel alive and free even within the confines of his body. After a wild youth, he began to look toward the future and realize that perhaps he could live longer than he had thought. He began to hope for things like a house, maybe even a family, a career as an artist.
And then, about a decade ago, Mr. Parish’s health started to decline. Breathing became harder. He began to wonder if this was it — whether he was reaching his “final chapter.” Grasping at any hope he could find, he saved money to raise funds to take part in a gene therapy trial in China. But then he started to contemplate the plethora of unknowns that could be even worse than his known reality. And so he gave up the effort. He would focus on his health so that when doctors were able to offer a more proven treatment that could act on his faulty genes, he would be ready.