October 2, 2018

'I am hemophilia': Why some patients don't want a cure for their life-long conditions

Daily Briefing

    Advancements in gene therapy and gene editing have brought experts several steps closer to finding a cure for hemophilia, but not all hemophiliac patients are interested in curing a condition they feel is part of their identity.

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    Hemophilia is a genetic disorder that prevents proper blood clotting and can result in uncontrollable bleeding if untreated. The disease has been the focus of research for decades, and recent advances have raised the possibility of a long-term cure.

    For example, hemophiliac patients enrolled in one of at least five clinical trials seeking to fix the defective gene behind hemophilia have been able to control their bleeding and bruising. Because the trial is only in the early stages, it is not yet known whether the patients will see long-term benefits.

    But even if a cure does one day become available, some hemophiliac patients say they would prefer to continue living with the condition.

    'I don't have it. I am hemophilia'

    Jeff Johnson, 40, of Washington is one of those patients. Johnson has lived with hemophilia his entire life and sees the condition as an integral part of his identity that does not need to be cured.

    "I don't have it. I am hemophilia," Johnson explained. "So when they come to me and say, 'We've got a genetic cure for hemophilia,' to me, that's just as weird as if you said you've got a genetic cure on the horizon for your left foot. This is really who I am. So I don't necessarily see it as something that needs a cure."

    That's not to say that living with hemophilia is always easy. Johnson said, "As early as I remember, honestly, I was having to go in to the [ED] for regular injections. I was on a different medication at the time, cryoprecipitate [which is derived from blood plasma and contains clotting factors]. I remember some kind of foggy memories as a toddler. The cryo was frozen, so it would have to sit out on the counter and thaw, and then they would do the infusion, and it would drip in over the course of a couple of hours."

    But over the years, Johnson said he formed a community with others who have hemophilia. He went to summer camp with other children who have the condition, and he became an active member of the hemophilia patient community.

    Now, Johnson said, "I deal more with the aftereffects of bleeds that I had years ago than I do with bleeds today. I had arthritis in my knees since my early 20s. I have arthritis and damage in my spine from bleeds, so those things just, they kind of wear on you more and more. I did get hepatitis, but I didn't get HIV."

    Why Johnson doesn't want to be cured

    Johnson acknowledged that not every hemophiliac patient would turn down a cure. But Johnson said that, beyond feeling that a cure is unnecessary for him, he has concerns about the gene editing process. "[T]he whole principle of changing my DNA is something I'm not comfortable with," he explained. "A lot of us that grew up with it, it's part of our identity, so we don't really see separating our identity from us."

    According to Johnson, new parents who have a child with hemophilia are more likely to want a cure because the condition is new to them. "You really see that in young parents because that cure is the light at the end of the tunnel that they didn't plan to be walking through," he said. But over time, Johnson said, many parents accept the condition as a way of life.

    Johnson suggested he is also skeptical a cure is on the horizon. "I've been told the hemophilia cure is around the corner for literally the last 30 years, which I know sounds a little cynical, but when you've been around the bend as many times as I have, you kind of start hedging your bets," he said.

    A mission for those who don't want a cure: Reduce care disparities

    Instead of focusing on a cure, Johnson said he spends his time trying to address disparities in hemophiliac care between men and women, particularly since the birth of his daughter.

    Because hemophilia affects the X chromosome, Johnson said, "[W]e were taught that it only affects boys. ... And the big problem we're facing is that that is so entrenched in the medical establishment that hematologists will still tell women" that they do not have hemophilia and are just a carrier who bruises easily. That approach, Johnson says, presents obstacles to care because it "gives insurers an excuse to say, no, we're not going to cover expensive treatment therapies" (Zhang, The Atlantic, 8/29; Kolata, New York Times, 8/13).

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