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For thousands, new drugs are the gifts that matter

Cystic fibrosis patients with a rare gene mutation seem to be helped by the drug Kalydeco from Vertex Pharmaceuticals.

Yoon S. Byun/Globe Staff/File 2012

Cystic fibrosis patients with a rare gene mutation seem to be helped by the drug Kalydeco from Vertex Pharmaceuticals.

The crowd of biotech and small drug companies operating in Massachusetts are closely followed on these business pages as a vibrant industry capable of creating big profits and thousands of good jobs.

The focus — especially in this space — is on products and sales, whether they will drive stock prices higher or make a company attractive as a takeover target. The most successful new products — blockbusters — are defined more by commercial achievement ($1 billion in annual sales) than how they improve the lives of patients.

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In fact, some of those products affect lives in profound ways. Many patients face a future of debilitating pain and suffering, perhaps something worse, before a new treatment changes everything. The market for such drugs is really a collection of thousands of people with individual stories like that.

I have room for only a few today, but they’re worth reading. Each person is in relatively good health on this Christmas Day, thanks largely to medical gifts with crazy names like Iclusig, Kalydeco, and Avonex.

Karen Linscott is one of them. Linscott was a 40-year-old mother with young children when she was diagnosed with chronic ­myeloid leukemia seven years ago. At first, she was treated with a drug called Gleevec, which held the disease at bay for more than four years. Then her leukemia mutated — finding its way around the treatment to threaten her health again.

“I wasn’t lying in bed all the time, but I wasn’t well,” she said of her life with leukemia. “Emotionally, I wasn’t fine, because I have two children and I thought, ‘My gosh, am I going to be around in a few years to see them grow up?’ ”

Once Gleevec and another leukemia drug proved ineffective, Linscott traveled from her home in Eden Prairie, Minn., to see medical specialists in Ann Arbor, Mich., who told her two things. They confirmed the mutation of the disease and laid out her limited options. There were no approved drugs that could treat her mutated leukemia.

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They told Linscott a couple of experimental treatments were worth a try. After that, the only option would be a bone marrow transplant, a procedure often measured by three-year survival rates.

The first experimental drug did not work for Linscott. But the second, a drug developed by Ariad Pharmaceuticals Inc., of Cambridge, showed early promise. After six to nine months, she said, her leukemia was in remission.

“Without this medication I would have had a transplant, and who knows where I’d be,” she said. “The alternative wasn’t too bright.”

Over the next few years, Linscott made more than 30 trips to Ann Arbor’s University of Michigan Medical Center, where Ariad was conducting a clinical trial.

Now there is no leukemia detected in her blood samples. And the Ariad drug, called Iclusig, was approved by the Food and Drug Administration ahead of schedule this month.

Linscott’s children, who were 8 and 5 years old when she was first diagnosed, are 16 and 13 today. “I think about the fact that they don’t remember me without leukemia,” said Linscott. “This has been a family journey, mom having leukemia.”

About a year after Linscott was first diagnosed with that disease, a 9-year-old boy 1,200 miles away got some bad medical news of his own. Doctors confirmed that Carter Bennett’s chronic coughing was caused by cystic fibrosis, a relatively rare and deadly inherited­ disease.

Cystic fibrosis causes mucus to thicken inside­ the body’s passageways, making it increasingly difficult to breath and to digest food. Most patients are diagnosed as young children, and about half don’t live beyond 30. Some require organ transplants as the disease progresses.

Carter tried to maintain a normal life in Scottsdale, Ariz., as he grew up and even played football, despite the toll it would take on his body.

“He eats, drinks, and sleeps football,” Kimberly­ Bennett said about her son. “But when he played football he went to the hospital for a good week.”

Though cystic fibrosis affects only about 30,000 Americans, Carter’s diagnosis was rarer­ still. He had a gene mutation known as G551D, present in about 4 percent of cystic fibrosis­ patients. That fact turned very bad luck into good fortune.

Vertex Pharmaceuticals Inc., of Cambridge, was developing a drug that seemed to work well for some cystic fibrosis patients — those few who shared Carter’s rare gene mutation. Regulators approved the drug, called Kalydeco, in January, and a package of it arrived­ via UPS at the Bennett home early on March 3. Everyone was so excited that the UPS driver posed for pictures with Carter.

The drug’s effect was quickly apparent. Carter gained about 20 pounds. His breathing, measured at 89 percent of normal capacity in an October test, now registers at 104.7 percent.

Carter still takes more than 50 pills per day, mostly to help digest food. He goes through two hours of treatment each morning and two more at night. But all of that, combined with two daily Kalydeco pills, seem to have changed everything.

“He’s as healthy as a horse; he doesn’t even get a cold,” Kimberly Bennett said.

She believes her son, who turns 16 in February, won’t face a future of transplants or other serious medical problems.

“I honestly don’t think Carter is going to have to go through any of that because of this pill,” she said.

At about the time Carter Bennett was born, Joann D’Amico­ Stone of Waltham added her name to a lottery list to become eligible for one of the first big biotech drugs developed in Massachusetts. She wanted to take Avonex, a drug from Biogen Idec in Cambridge, for her multiple sclerosis.

Avonex was approved by the FDA in 1996, and it was in high demand right away. Stone had been diagnosed with MS three years earlier. She had been taking another medication but eventually built up antibodies neutralizing it.

Like Karen Linscott, she was a mother with a young child on her mind when she was diagnosed. “I was willing to try anything because my son was 5 years old at that point,” she said. “If I wasn’t on something, my MS would continue to get progressively worse and I wouldn’t have been able to keep up being a mother for him.”

D’Amico Stone has been on Avonex for well over a decade now. She has been able to keep up, and the medication helped make that possible. She may use a three-wheel scooter to go shopping but can still do nearly anything she chooses.

Avonex has been effective for years, but most patients don’t like the weekly injections it requires. D’Amico Stone called the original large needle “the harpoon.” She learned to deal with the headache that followed. Like many other MS patients­, she looks forward to pills that may do the job in the future.

There’s no dramatic moment in D’Amico Stone’s story. The good news is simply that Avonex has helped her manage a serious disease and live a relatively normal life for many years. “I can’t think of anything I’ve missed,” she said.

These stories are about simple gifts: the ability to live something of a normal life. Those can be the best gifts of all.

Steven Syre is a Globe
columnist. He can be reached
at syre@globe.com.

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