Thirty or more years ago, a hemophilia diagnosis meant isolation from peers, damaged joints and exposure to diseases like HIV. Thanks to a better understanding of the disease and innovative new treatments, people with hemophilia today live longer and face fewer obstacles.
“In the middle of the last century, life expectancy was only 20-30 years old,” said Adam Giermasz, hemophilia expert and co-director of the UC Davis Hemophilia Treatment Center. “Now, with proper treatment, children diagnosed have a normal life expectancy.”
Experts at the UC Davis Hemophilia Treatment Center offer patients comprehensive disease management and education and conduct leading-edge research. A multi-disciplinary care team of doctors, nurses, social workers and physical therapists ensures that patients have access to specialists who understand hemophilia and how best to support them.
“It’s key to helping families and patients understand their diagnosis and live with it without long-term effects because of poor treatments,” said Kim Schafer, a UC Davis nurse practitioner in the hemophilia clinic. “Patients are empowered to take care of their bleeding disorder so it doesn’t have to dictate how they live.”
Patient recalls childhood with hemophilia
Joel Mayer, or “Mr. Fix It” as his daughter calls him, enjoys retirement like others would in their 60s, spending a lot of time with his black Labrador Retriever, Annie, in Oakdale, Calif. and his family. But as a child living with hemophilia, he had to work harder than others to be a regular kid.
“I just wanted to be normal. I just wanted to have friends,” said the 61-year-old. “I had to keep my skateboard wheels and wheelchair working well, otherwise I wasn’t mobile. I always relied on machines, and I got really good at fixing things.”
Mayer and his older brother, Andy, experienced first-hand what it was like to miss out on everyday activities. The Mayers were both diagnosed with hemophilia at a time when treatment was limited. While his brother was never able to walk because of joint damage, Joel learned to give his knees a break by scooting himself along on his longboard or using a wheelchair.
Hemophilia is a genetic bleeding disorder
Hemophilia is a genetic blood disorder. Symptoms typically show up by the time a child starts to crawl, using their bodies to get around and exposing themselves to hazards. People with the disease are missing a “factor” in their blood that helps with the clotting process. Even minimal movement like walking can cause bleeding. While hemophilia primarily affects males, women are carriers of the genetic mutation that causes the disorder, and in some cases may become symptomatic.
To manage the disease, hemophiliacs infuse the clotting factor into their blood during bleeding episodes, and to prevent future bleeds.
“Our principle is prophylaxis,” said Giermasz. “Patients get infusions when they bleed but also two or three times per week to prevent bleeding. And with the advancement of technology and medicine, patients can infuse less often.”
While a cut or bruise can be dangerous for a hemophiliac, repeated bleeds to joints cause hemarthrosis – debilitating damage secondary to bleeds. Bleeding causes deposited blood to accumulate and damage the joint’s lining. The body’s natural inflammatory response, combined with the deposits, destroy cartilage over time.
“We call this a target joint – one that always bleeds,” said Schafer.
Repeated bleeds cause joint deformity, added Giermasz. “So the joint of a 20-year-old may look like the joint of a 70-year-old.”
Contaminated blood products exposed hemophiliacs to new diseases
As young children the Mayers only had access to fresh whole blood or fresh frozen plasma, which sometimes caused allergic reactions. A breakthrough in the 1960s by scientist Judith Graham Pool at Stanford led the family to move from Ohio to California. Pool had discovered that cryoprecipitate left from thawing plasma was rich in blood factor, so Joel’s mother drove him and his brother to Palo Alto every Monday, Wednesday and Friday for infusions and physical therapy in a heated pool.
By age 13, Mayer learned how to self-infuse every other day.
“We were on cloud nine. It was such a big change,” he said.
The HIV/AIDS epidemic in the 80s severely affected the hemophilia community, including the Mayer brothers, who were both exposed to contaminated blood used to make their factor. In 1992, screening for the autoimmune disease and hepatitis C – which was not screened for prior to this crisis – became standard practice and gave hemophilia patients access to clean blood concentrate.
HIV and hepatitis C slowed the Mayer brothers down, but didn’t crush their spirits.
“Andy bought a boat, I bought a new Suburban and we went fishing 3-4 times a week. It was a great time. I wouldn’t change a thing,” said Mayer. “We didn’t look too far into the future, just tried to stay around for the next advancement.”
Andy died from hepatitis C-related liver failure in 1998. Joel was cured of his hepatitis C after the approval of anti-viral medication; his HIV is now under control and undetectable.
Better treatments for hemophilia mean better quality of life
In June 2017, he enrolled in a UC Davis clinical trial for a new hemophilia drug called Hemlibra that only requires monthly infusions.
“I’ve been in heaven only having to stick myself once per month,” said Mayer. “I haven’t bled since I started (Hemlibra) and I haven’t had any symptoms of bleeding.”
Giermasz is encouraged by this and other new treatments for patients young and old, including gene therapy, now being offered through clinical trials.
“For many years there was no progress in treatment of hemophilia,” said Giermasz. “Today, with an explosion of new therapies like non-factor-based treatments and gene therapy, our patients can have a normal life expectancy, joints and quality of life.