The Patients Who Don't Want to Be Cured

Jeff Johnson is 40 years old, and for all 40 of those years, he has been living with hemophilia. The genetic disorder prevents blood from properly clotting, which, if untreated, can cause uncontrollable bleeding. Yet, Johnson says, he does not want a cure. He grew up with hemophilia, went to summer camp with kids with hemophilia, and forged some of his closest relationships within the community.

I was interested in speaking to Johnson because new advances in gene therapy and gene editing are making the elusive cure seem closer than ever. At least five clinical trials are currently aiming to fix the faulty genes that underlie hemophilia. The New York Times recently interviewed patients from one gene-therapy trial who no longer had to worry about bruising and bleeding. “They Thought Hemophilia Was a ‘Lifelong Thing,’” read the headline. “They May Be Wrong.” It is unknown how long the effects of the therapy will last.

“I’ve been told the hemophilia cure is around the corner for literally the last 30 years,” Johnson told me with a laugh. “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 does not speak for every hemophilia patient, of course, but at a time of increasing optimism about cures, his perspective is thought-provoking. Johnson lives in Washington State, and he is actively involved in the hemophilia-patient community. As is not uncommon for patients, he also works for a specialty pharmacy that dispenses hemophilia drugs.

In two conversations, we spoke about his experience growing up with hemophilia, his sense of identity, and his hopes for his newborn baby girl. The interview has been lightly edited and condensed for clarity.

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Sarah Zhang: Tell me about your experience living with hemophilia.

Jeff Johnson: As early as I remember, honestly, I was having to go in to the emergency room 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.

There were people who were on clotting factor [which could be stored at home] when I was a kid. The hematologist had told my dad that factor might not be safe. There were hemophiliacs getting sick from it, so my dad didn’t let them use factor on me. It turns out hemophiliacs were getting sick because they were contracting HIV from their factor, so I was on the older treatment, but it ended up saving my life.

Right now, 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.

Zhang: You’ve been talking about some of the challenges of living with hemophilia. So why are you personally not interested in a cure?

Johnson: The analogy I offer people, and I offer to you, is, as a woman, I’m sure you experience difficulties and challenges just being a woman in life. If someone came to you and said, “We’ve got a genetic cure for being a woman,” that would be really bizarre to you because being a woman is who you are.

I am hemophilia. I don’t have it. I am hemophilia. 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. As far as genetic cures go, the whole principle of changing my DNA is something I’m not comfortable with. 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.

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Zhang: Not everyone in the hemophilia community feels the same way about gene therapy or gene editing, of course. One thing I’ve heard talking to people with hemophilia is that for older folks—who grew up in the ’70s and ’80s when treatment was not as good and then lived through the HIV epidemic—there is a really strong sense of identity and community. Do you sense a generational divide in attitudes about a cure that would fundamentally alter your DNA?

Johnson: There is very much a generational divide. I think it’s really more among parents.

Zhang: How so?

Johnson: The group I see most ardently wishing for a cure are new parents.  They’re people who don’t have hemophilia, so it’s not part of their identity, so they still kind of see it as something that’s separate from us. To them, hemophilia is an invader—like for 20 years of their life where it wasn’t part of their existence and they had a kid, and that kid had hemophilia. They see hemophilia as this intruder that needs to be cured and taken away from their lives.

Zhang: But if you’re a kid with hemophilia, that’s been part of you your whole life ...

Johnson: As you see parents and their families grow, you’ll see a cure is all they talk about for the first four, five years. And then the kids get to like 5 to 10 and they’re going to summer camp for kids with hemophilia and managing their disorder; the parents talk less and less about a cure. And then when you get to the teenage years, unless they’ve got a really bad inhibitor or something [which prevents the use of clotting factors], the parents have kind of graduated on to, “It is what it is.” If there’s a cure, cool, but he’s doing fine. 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.

Zhang: Do you have kids yourself?

Johnson: We have a two-month-old baby girl. My wife and I started talking about kids four years ago. I found out really late that I had contracted hepatitis from my cryo. Even though it’s pretty safe to still conceive when you have hepatitis, it just was too nerve-racking to me to risk passing that infection on to my wife. So I fought for my insurance for three years to get treatment for my hepatitis. I switched jobs to the one I currently have, got new insurance, finally got approved. I actually finished my treatment regimen [last year].

Zhang: Did you think about the possibility of passing hemophilia to your kids?

Johnson: So the way that the genetics work, if I have sons, they’ll inherit my Y chromosome. So if I only have sons, it wipes it out. If I have daughters, they’re going to inherit my X. That’s going to mean that either they carry it to their children, or it may present to the point where my daughter may actually have hemophilia.

Zhang: Does your daughter have symptoms of hemophilia?

Johnson: At two months, her body’s still forming itself. So if we tested her factor level now, that would be meaningless because that would change in a few days. It really won’t level out until she reaches puberty. We’ll check her levels every now and then and if she grows up and she decides she wants to play soccer or something like that, it’ll be something that we watch for, but we really won’t know until she’s a teenager if she’s a full-fledged hemophiliac or if her factor levels are high enough that she’s not going to be affected.

We’ve realized in the last 10 to 15 years that girls who we’ve traditionally called carriers, they’re still bleeding from a factor deficiency sometimes. Not quite as badly as I do, but they’re still bleeding. Treatment for girls with hemophilia is not as good as it is for boys with hemophilia.

The doctor doesn’t listen to her. But the media is starting to.

Zhang: How are girls treated differently?

Johnson: Hemophilia, growing up my entire life, because it’s on the X chromosome, we were taught that it only affects boys. Only boys have hemophilia. And the big problem we’re facing is that that is so entrenched in the medical establishment that hematologists will still tell women, “Well, you don’t have hemophilia. You’re a woman. You just bruise easily.” We still have those horror stories today of a woman going in and her menstrual flow lasts for like three weeks, and she has a child and she almost bleeds to death. She got joint damage in her 20s or 30s. She’s got all the hallmarks of having hemophilia, and even today, hematologists will tell women, “Well, hemophilia affects men. You’re just a carrier.”

As soon as a doctor says no, that starts to throw up roadblocks because that gives insurers an excuse to say, no, we’re not going to cover expensive treatment therapies. So a big portion of our community’s efforts now are about ensuring that our hemophilia sisters have the same quality and access to care that hemophilia brothers do. So we’ve got a bit of inequality even within our community, which is unfortunate.

Because I’m a community activist, I’m educated, I work in the community, I would feel confident handling my daughter’s hemophilia. It doesn’t bother me. Whether she does or she doesn’t, I know we can have a full, thriving life with hemophilia.

from The Atlantic https://ift.tt/2wqvXZs