Hemophilia patient Randy Curtis injects his blood with the missing clotting factor. (Lesley McClurg/KQED)
Many people with the rare blood disease, hemophilia, never expected to be alive today because they were told at a young age they would likely die from uncontrolled bleeding.
When Randy Curtis bumped his knee in second grade he received devastating news.
“I had fallen or something like that and my mom had taken me to the hematologist and he said, ‘You know, these kids don’t really live past 13.’ So, I went back to school the next day and told my math teacher, 'I don't have to learn this stuff. I’m going to be dead!'” says Curtis.
But, he was wrong. He’s now 61-years-old.
What Is Hemophilia?
Curtis has hemophilia, a rare genetic disease, where his liver fails to produce a protein that helps his blood clot. Only one in 10,000 boys are born with hemophilia.
To prevent something as benign as a bump or a fall, Curtis wore protective gear growing up. He went to school in a wheelchair. He wore braces on his elbows and knees. He spent recess in the school office because injuries could spark days of internal bleeding.
“For these children the bleeding doesn’t stop," says Marion Koerper, a retired UCSF hematologist. "And, 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."
Curtis' childhood was peppered with weeklong trips to the hospital every month or so. He lived in fear of an intracranial bleed that would take his life.
A Royal History
Hemophilia has often been called the "royal disease" because it spread through many noble families in Europe in the 1900s.
British monarch Queen Victoria, who ruled from 1837-1901, is believed to have had one son who had hemophilia, and two daughters who were carriers of the disease. One of the princesses married Tsar Nicholas II of Russia, whose son Alexei had hemophilia at the turn of the 20th century. The tale is featured in the 1971 Academy Award winning film "Nicholas and Alexandra."
Hemophilia was carried through various royal family members for three generations before it disappeared.
In the 1950s scientists discovered that fresh frozen plasma, could be transfused in patients in a hospital. But it took days to transfuse enough clotting factor to provide relief for a joint bleed. In 1960 the life expectancy for severe hemophiliacs was less than 20 years.
Then in the late 1960s scientists discovered how to make the missing clotting factor in freeze-dried powder concentrate from human blood plasma. It was a huge breakthrough because suddenly patients could infuse the missing factor at home.
Randy Curtis has given himself an intravenous injection of clotting factor every few days since he was 14-years-old.
The home regimen gave Curtis 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!” exclaims Curtis. “It was a shocking revelation. And I had a plan for employment.”
He graduated with a degree in genetics. He married, had a son and started an MBA program.
Elation Turns to Devastation
“Then it all came crashing down when we discovered how many were infected with HIV,” says hematologist Dr. Koerper.
Koerper is referring to a medical disaster that occurred in the early 1980s. The clotting factor medication for hemophiliacs was accidentally contaminated with HIV and hepatitis C from human blood donations.
“Those were really dark days,” Koeper says hauntingly. “I looked at my patients and said you’re gonna die.”
Just as hemophiliac patients received a new lease on life, half (about 10,000) of the hemophiliacs in the U.S. were 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 became infected.
But a few years ago, he was diagnosed with hepatitis C, a virus he likely acquired at the same time as the HIV crisis when the nation's blood supply was tainted.
“This was 48 weeks of hell. This was inteferon, ribavirin and all this stuff that gave you basically the flu everyday for 48 weeks,” explains Curtis.
The drugs successfully knocked out hepatitis C. But, the treatment took a toll. Curtis’ system is still recovering a year later from all the drugs. Fortunately, virus contamination is no longer a threat because today’s hemophilia medication is often developed in a lab through the use of DNA technology rather than sourced from human blood.
Pharmaceutical companies manufacture hemophilia medication at plants like Bayer HealthCare's biotech plant in Berkeley. The company was one of the early players in helping to develop the breakthrough clotting factor.
Now researchers are looking beyond treatment, toward a cure using some of the latest, albeit controversial, advances in genetics.
“The hope could be that in about ten years a gene therapy product could become available,” says Hans Duerr, who is with Bayer’s hematology unit.
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 the disease.
First World Success Story
Meanwhile, Randy Curtis is enjoying retirement. He's almost giddy when he looks back on his life.
“I’ve been really lucky!” exclaims Curtis. “I mean I’m vertical! Right? I can’t complain!”
But, his journey is a First World tale. Hemophilia treatment is extremely expensive. Curtis’ annual treatment is around $250,000.
The high cost and lack of access to drugs leaves most hemophiliacs in developing countries without treatment. The majority of patients in the world still don't see puberty.
Curtis plans to spend a lot of his retirement volunteering with the National Hemophilia Foundation and World Federation of Hemophilia to improve international care.
“We’re building tools for developing countries and showing them how to collect data and do their own advocacy,” says Curtis.
He says he hopes someday all hemophiliacs will live full active lives.
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