‘We’re still waiting’: As cystic fibrosis drugs deliver new hope, not everyone is being swept up by scientific progress

By Andrew Joseph for STAT News

CAMBRIDGE, Mass. — The tiny round one is vitamin K. There’s a gel cap (vitamin D), a two-tone capsule (that one protects his liver), a square pill (generic Singulair), and more — seven pill bottles sharing space on his dresser with a “Criminal Law and Its Processes” textbook that’s thick enough to be a weapon.

Josh Hillman, a 23-year-old Harvard Law student from Alabama, has cystic fibrosis, the progressive genetic disease that causes frequent lung infections and wears on other organs. He has to pop enzymes with every meal to maximize the nutrients his body absorbs. While he sleeps, 1,200 calories of a nutritional shake drip through a tube directly into his stomach. There are the inhaled drugs — sometimes antibiotics, always a mucus thinner — that he breathes in through a nebulizer, and a blue vest that slips on, inflates, and vibrates, a 30-minute shaking session that he does twice a day to help clear the mucus that gunks up his airway and lungs.

“It makes it a little bit difficult to write,” he said, his Southern accent rumbling like his wheeled desk chair was careening across cobblestones.

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But for all that is part of Hillman’s daily regimen — and that’s what he does when he’s healthy — it’s what’s missing that’s just as notable: one of the new cystic fibrosis treatments that have started to transform the lives of others with the condition.STAT Plus: Exclusive analysis of biotech, pharma, and the life sciences.

Those medications, the first to be tuned to the genetic mutations that cause the disease, have helped people experience fewer flare-ups and hospitalizations. They have also brought the relief of simply feeling better and breathing easier. The drugs have been touted as a testament to what’s possible with precision medicine treatments, which target the roots of diseases instead of just addressing symptoms.

The catch is that cystic fibrosis is not caused by one mutation, or a handful, but more than 1,500 different rearrangements in the code for the gene known as CFTR. The cutting-edge treatments — there are three available now and a fourth, still-experimental medication expected to be approved, all from Vertex Pharmaceuticals — cover the mutations held by some 90 percent of CF patients.

That leaves up to 10 percent of people whose diseases are advancing without a powerful defense to slow them down. Hillman is among them.

“This is such a concrete fact of your life — it’s always going to be here, it’s never going away,” he said matter-of-factly in describing his condition.

The new therapeutic landscape for CF has created disparities among patients who, until 2012, were all treated the same way. Patients who are not eligible for the new medications have been left wondering if the kinds of treatments available to others will reach them in their lifetimes. And there is a time imperative: Only half of people who are born today with CF will live into their late 40s.Related: Vertex cystic fibrosis drug combination shows strong results in pivotal clinical trials

It’s a reminder that with complicated genetic diseases, progress, while rightly celebrated, doesn’t always extend to everyone at the same time.

“It makes me so happy to see other people with CF thriving and getting help. It brings me more joy than I can even explain,” said Stacy Carmona, 32, who works in patient advocacy for a specialty pharmacy, takes more than 40 pills a day, and spoke of the “panic” of feeling left behind. “But there’s that other side of it, where I so desperately want to catch up to them.”

As she’s gotten older, Emily Kramer-Golinkoff, 34, whose lungs function at about 30 percent the level of healthy organs, has started talking with doctors about a transplant.

“Watching them have not just new hope, but like new lives, new capabilities, to start thinking about retirement funds and things like that, I’ve never had that luxury,” she said. “We’re still waiting, and we’re sinking. For us, this disease is still the same killer.”

Head over to STAT News for the remainder of this story.

One thought on “‘We’re still waiting’: As cystic fibrosis drugs deliver new hope, not everyone is being swept up by scientific progress”

  1. Amen, Amen and Amen! Umm…talk about reading my mind! My mutations (both of them) are so rare that I was saddened to see that out of 50 something thousand entries into the CFTR database, I am the ONLY ONE with my mutation combination. That really isn’t where a person wants to see autonomy. I sincerely doubt they’ll ever get to me, but I hold out hope. I understand your fears so very well.

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