4 minute read
gene therapy through the eyes of patients living with hemophilia b
the result of decades’ worth of research is transforming hemophilia b care, offering new hope to people living with this genetic bleeding disorder
brian o’mahony was diagnosed with hemophilia b at 18 months old and grew up at a time when there was no treatment for the condition. patrick bolger
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this story was created by content works, postmedia’s commercial content division, on behalf of a client.
while many children laugh off scraped knees or boast about broken bones as badges of honour from adventurous play, for those with hemophilia b, the playground transforms into a minefield of potential dangers. a hereditary condition in which the blood doesn’t clot normally, hemophilia b puts children at risk of uncontrolled bleeding, transforming everyday bumps and falls into potentially life-threatening experiences. brian o’mahony, who was diagnosed with hemophilia b as an 18-month-old, grew up at a time when there was no treatment for the condition. now in his 60s, o’mahony was 14 years old before he received treatment for hemophilia b that went beyond bedrest and ice.
“bleeding episodes were very common and things like joint damage were inevitable,” he says. “i missed weeks of school every year and was always aware that i was one very serious bleed away from death.”
hemophilia b is a less common form of hemophilia — itself already a very rare disorder — which affects approximately 1 in 50,000 people. “hemophilia b is due to an inherited deficiency in a clotting factor called factor ix,” says dr. david lillicrap, a professor in the department of pathology at queen’s university. “its major manifestation is frequent and spontaneous bleeding, most commonly in the joints — knees, elbows, and ankles.”
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dr. lillicrap has worked in hemophilia b gene therapy research for 25 years. james paddle-grant
the gene for the factor ix protein is located on the x chromosome, which can be inherited from a person’s mother or father. hemophilia, like other x-linked traits, tends to affect males more than females because males have only one x chromosome and, therefore, only one copy of the gene for factor ix.
before the advent of gene therapy, living with hemophilia b required frequent intravenous prophylaxis injections of factor ix to prevent bleeding episodes, imposing physical, emotional, and financial strain on patients and their families.
over the years, o’mahony had a knee replacement and ankle fusion due to joint damage and went through all previous generations of hemophilia b treatment, from plasma-derived products to recombinant factor concentrates.
gene therapy, the result of decades of research
“i’ve always kept up to date with hemophilia science and developments,” says o’mahony, who is currently chief executive of the irish haemophilia society. “when gene therapy came around, and after weighing the risks and benefits with my health-care team, i wanted to try it.”
dr. lillicrap has worked in hemophilia b gene therapy research for 25 years. “the concept of gene therapy is pretty straightforward,” he says, “we give patients with hemophilia a normal copy of the gene they need to make their own factor ix.”
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“i was hoping to remove the requirement to have regular injections,” says o’mahony on his decision to get treated with gene therapy. “and i also wanted the mental freedom of not having to think about my hemophilia so much.”
o’mahony hasn’t looked back since receiving gene therapy four years ago. he encourages others living with hemophilia b to learn about it and to make fully informed decisions in collaboration with their health-care teams.
in addition to the higher factor levels and reduced annual bleed rates, o’mahony has the mental respite he craved. “it has certainly freed up some hard-drive space in my brain,” he says.
other patients, like mark pervan, 44, are hopeful about recent therapeutic advances, though he’s holding off for now.
“growing up with hemophilia b definitely added a level of panic and burden on my parents,” he says. today, pervan’s condition is controlled thanks to a weekly preventive treatment. while he’s content with his current treatment plan, gene therapy is something he will be watching closely. “i’ll be trying to learn more and educate myself about it,” he says.
mark pervan plans on learning more about gene therapy for hemophilia b. ethan cairns
as a proponent of this treatment, dr. lillicrap acknowledges that while there is a high cost associated with gene therapy, he believes it’s worth it.
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“once you get successful gene therapy, you eliminate the cost of multiple factor infusions — as many as 70 infusions per year — which adds up over time,” dr. lillicrap explains.
support for a new era in hemophilia b
aside from gene therapy, research into other ways to treat hemophilia b is ongoing. some studies are focused on ways to reduce the frequency of infusions of prophylaxis treatment, while others investigate how to treat patients who are less responsive to conventional therapies.
david page, a patient advocate and former national director of policy at the canadian hemophilia society (chs), encourages patients to get educated on whether gene therapy is the right choice for them.
“at the chs, we’re trying to provide people with as much information as possible so they can make a shared decision along with their families and health-care providers,” he says. a newly created chs gene therapy resource centre helps to reduce gaps in education and awareness, equipping patients with an information booklet, webinars, a series of podcasts, and more.
the future of hemophilia b care is bright, with enormous advances having been made in the treatment landscape. all that’s left is for patients to educate themselves on their options.
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this story was created by content works, healthing.ca’s commercial content division, on behalf of csl behring canada.
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