By Lesley McClurg, KEQD
Randy Curtis was in second grade when he and his parents got devastating news from a specialist in blood disorders. Curtis had merely fallen and bumped his knee, but he remembers the doctor's words: " 'You know, these kids don't really live past 13.' "
"So, I went back to school the next day," Curtis remembers, "and told my math teacher, 'I don't have to learn this stuff. I'm going to be dead!' "
He was wrong.
Curtis, now 61 years old, has hemophilia, a rare genetic disorder that makes his liver unable to produce a protein that helps blood clot. Only about 1 in 5,000 boys in the U.S., and significantly fewer girls, are born with the blood disorder. Today, Curtis is part of a cadre of men and women who faced and escaped death more than once because of twists and turns in the treatment of hemophilia — men and women now looking toward a retirement they never expected to see.
Like many kids born in the 1950s with the disorder, Curtis wore protective gear as he was growing up, to prevent injuries. He went to school in a wheelchair. He wore braces on his elbows and knees. He spent recess in the school office because even a hard bump or a fall could spark days of internal bleeding.
"For these children, the bleeding doesn't stop," explains Marion Koerper, a retired hematologist at the University of California, San Francisco. "After six or eight hours the ankle or the knee joint is swollen to the point where it's extremely painful. They can't straighten their leg, they can't walk on their leg and they need to be brought in for treatment."
In the 1950s scientists had discovered that donations of fresh frozen plasma, which contains clotting factors, could be transfused into patients in a hospital. But it took days to transfuse enough of the product to provide relief for a painful joint bleed, and many children died from bleeding inside the skull.
Curtis' childhood was peppered with weeklong trips to the hospital for these transfusions. And he lived in fear of an intracranial bleed that would take his life. In 1960, the life expectancy for people with severe hemophilia was still less than 20 years.
Then, in the late 1960s, scientists discovered how to make freeze-dried concentrates of the clotting factors from blood. That transformed treatment; soon people with hemophilia could store the clotting factor they needed at home and infuse it on a regular basis, instead of waiting for emergency treatment in the hospital.
Curtis has given himself an intravenous injection of clotting factor every few days since he was 14 years old and says the home regimen gave him his life back. No more bleeds. No more hospitals. As long as Curtis injected his medicine his blood would clot normally.
"About my second year in college I realized that with the new products that they had out, I was going to have to get a job!" Curtis says. "It was a shocking revelation. And I had a plan for employment."
He graduated in 1977 with a degree in genetics. He went on to marry, have a son and enroll in an M.B.A. program.
"Then it all came crashing down when we discovered how many were infected with HIV," says Koerper.
She's referring to the medical disaster that occurred in the early 1980s as part of the wider tragedy of the AIDS epidemic. In those years, before HIV was identified, and before sensitive blood screening tests for the virus were developed, some of the clotting factor concentrate was derived from blood inadvertently contaminated with HIV (and, as doctors would later realize, also sometimes contaminated with the hepatitis C virus).
According to the National Hemophilia Foundation, "From the late 1970s to the mid-1980s, about half of all people with hemophilia became infected with HIV after using contaminated blood products. An estimated 90 percent of those with severe hemophilia were infected with HIV. Many developed AIDS and thousands died."
"Those were really dark days," Koerper says. "I looked at my patients and said, 'You're going to die.' " An estimated 10,000 people in the U.S. with hemophilia became infected with HIV.
"A lot of my really good friends are gone," says Curtis. "A lot of their wives are gone, because there was a lot of spread of HIV before we even knew it was HIV."
Curtis was one of the lucky ones; he never contracted HIV.
But a few years ago, he was treated for hepatitis C — an infection that he most likely picked up in the early 1980s, his doctors say.
"This was 48 weeks of hell," Curtis says of the treatment. "This was interferon, ribavirin and all this stuff that gave you, basically, the flu everyday for 48 weeks."
The drugs successfully knocked out the hepatitis C virus, but treatment took a toll. Curtis' system is still recovering a year later from all the drugs.
Fortunately, viral contamination of clotting factors is no longer the threat that it used to be for people with hemophilia, because the majority of today's medication isdeveloped in a lab through the use of DNA technology, rather than sourced from human blood.
Pharmaceutical companies manufacture hemophilia treatments at plants like BayerHealthCare's biotech plant in Berkeley, Calif. The company was one of the early players in helping to develop clotting factor as a treatment.
Now researchers are looking beyond treatment, toward the possibility of a cure — using some of the latest advances in genetics.
The company recently partnered with CRISPR Therapeutics — a gene-editing startup. Bayer is investing $300 million in the partnership in hopes of altering the genes involved in hemophilia.
"The hope could be that in about 10 years a gene therapy product could become available," says Hansjoerg Duerr, head of global strategic marketing with Bayer's hematology unit.
Meanwhile, Curtis is enjoying retirement. He is almost giddy when he looks back on his life.
"I've been really lucky," says Curtis. "I mean I'm vertical! Right? I can't complain."
Still, hemophilia treatment is extremely expensive. Curtis' annual treatment costs around $250,000. (The average costs, recent research shows, average around $300,000).
Insurance covers most of his costs, he says; he pays about $1,000 a year for the treatment.
When he hears legislators balking at the high cost of of treatment and suggesting that taxpayer-funded, emergency insurance programs should be cut, Curtis says he has a ready response: " 'It's going to cost you more if we show up in the ER.' "
Still, the high cost of treatment and a lack of access to the drugs leaves most people in developing countries who have hemophilia without good treatment, according to theWorld Federation of Hemophilia. The majority of patients globally who are born with the condition still don't see puberty.
Curtis plans to spend a lot of his retirement volunteering with the world federation and with the National Hemophilia Foundation as they work to improve international care.
"We're building tools for developing countries," Curtis says, "and showing them how to collect data and do their own advocacy."
This story was produced by KQED's health and technology blog, Future of You.