In honor of World Rare Disease day and the Global Genes Project, I’d like to repost a fascinating interview with a young man who has hemophilia…
Hemophilia A is a blood clotting disorder sometimes referred to as the “disease of kings” since it is a genetically inherited (X-linked) bleeding disorder that was introduced by Queen Victoria to the Russian royal family in the mid 1800’s. Women are carriers of the gene, while males express the signs of the disease, so only the “kings” display the trait.
Today there are fewer than 18,000 individuals with hemophilia A in the United States. Those with the most severe form of the disease make less than 1% of the regular amount of a certain blood clotting glycoprotein (known as factor VIII) and are often dependent on the regular intravenous administration of this expensive factor to keep them from bleeding to death. The cost of factor VIII and associated medical care and hospitalizations is estimated at $150,000/year.
How do people with hemophilia A manage to get their medical needs met in our current healthcare system? I spoke with a young man with hemophilia A (we’ll call him “J”) to find out.
Dr. Val: What was it like having hemophilia as a kid? Were you extra careful not to play sports or get hurt in a way that could trigger a bleeding episode?
J: Actually, it’s psychologically important for kids to feel as if they’re no different than their peers. So I probably over-compensated for my hemophilia by actively engaging in contact sports to prove that I could do it. I’m also somewhat physically small, so I had two reasons to be really aggressive in sports. I’m sure it worried my parents – though I was lucky not to have injured myself in any major way.
Dr. Val: How do you care for yourself now?
J: I am much more cautious now that I’m an adult, and I work in a white collar environment. I have to infuse myself with factor VIII about twice a month when I have a bleeding episode, and more frequently if I have an injury. I’m carefully followed at a local hemophilia clinic, and they do a fantastic job of keeping an eye on me. In fact, they have transferred my entire medical chart to all local Emergency Departments so they’ll have my records in case of an accident or if I arrive in an unconscious state.
Dr. Val: Do most people with hemophilia do their own factor VIII infusions?
J: Yes. Some of us have ports, but most just place an IV and self medicate. I keep fresh medication in powder form in my fridge and reconstitute it with sterile water just before I infuse it.
Dr. Val: Where do you get your supplies?
J: Interesting that you ask. Usually I have them delivered by Caremark (a mail-order pharmacy service). One time I actually ran out of needles and tubing and had to go to an ER in New York City to get my infusion started. You can imagine how that went over – they assumed I was a heroin user looking for a fix. They looked for track marks on my arms and legs and asked me detailed medical questions about my hemophilia, to see if I really knew about it. Then once they realized that I was legit – all the specialists in the hospital wanted to meet me because they’d learned about hemophilia in medical school but had never met someone with the disease. I spent a lot of time educating them about it.
Dr. Val: Did you ever have any life-threatening bleeds?
J: Not truly life-threatening, but I did fall on my knee once and it wouldn’t stop bleeding into the joint. It was the most incredibly painful thing ever. I eventually had to go the ER for extra infusions of factor VIII. At the time I was in NYC again, and they called around to all the hospitals and couldn’t scrounge up enough factor VIII to treat me. So they had to get it from New Jersey. I waited in the ER on a morphine drip from 7pm until 7am the next day before the factor VIII arrived.
Dr. Val: How do you pay for your treatment?
J: Factor VIII is incredibly expensive. It’s manufactured in the lab using a recombinant DNA technique where the factor is produced in a hamster cell culture. Then it’s purified, and freeze dried into a powder. I would guess that it costs my insurance company about $50,000 a year for the amount of product I use (though heavier users may run up a tab of $150,000 – $225,000). This is why I can never let my health insurance lapse because I would be uninsurable otherwise. In fact, I’ve saved up some special funds in an account in case of emergency – so I can afford COBRA coverage in the event that I lose my job and can’t find any work. Right now I’m on a pretty generous health plan through my employer. But I work for a fairly large company so the other employees aren’t hit with higher premiums because of me.
Dr. Val: Do you worry about working for a smaller company – that they might not hire you if they knew you had hemophilia?
J: Absolutely. Hiring someone with such an expensive disease would drive up health insurance premiums for the entire group. Of course, it’s illegal to discriminate against employees based on their “disability” – so they’d need to find a different rationale for either not hiring me in the first place, or laying me off later on. I don’t blame them, I suppose – it would really be tough to work at a small company where everyone’s health insurance premiums doubled because of me. It isn’t really fair to the other employees. So I try to work for larger companies who won’t feel that kind of pinch.
Dr. Val: Wow, so your condition dictates where you can work?
J: To some extent, yes. For those hemophiliacs who are self-employed or work part-time or in jobs that don’t offer health insurance – they have to rely on Medicare funding for their care. Medicare has reduced reimbursements for medical supplies and home health care, which negatively impacts people with hemophilia. This forces hemophiliacs to get their Factor VIII in the hospital setting, which drives up costs, and slows access to the life-saving medication. Hemophiliacs who rely on Medicare can’t keep their own medicine at home, so if they are injured they have to wait to get medication through the local ER or hospital. If you happen to suffer a bleed when traveling, and are not near an academic center that’s used to treating hemophilia, you could actually bleed to death waiting for medication. All because Medicare has applied a cross-the-board decrease in funding for home care products. So I’m really glad that I have private insurance.
Dr. Val: You were recently married. Have you discussed having children with your wife?
J: Yes. We’d like to have children, but I certainly wouldn’t want any of them to be hemophilia carriers. If I have a daughter, she will be a carrier and could have sons with hemophilia. However, if I have a son, he will not get the gene (since it’s on my X-chromosome). My wife and I are strongly considering “sperm sorting” which is a new in-vitro fertilization technique that guarantees that only Y-chromosome-bearing sperm fertilize the eggs. That means that we would only have sons, and could break the hemophilia cycle for my descendents.
Links to hemophilia A medication websites:
Baxter: Advate and Recombinate and Hemofil M:http://www.advate.com/hcp_index.html
Bayer: Kogenate FS: http://www.kogenatefs.com/
CSL Behring: Monoclate P and Helixate FS: http://www.helixatefs.com/
Novo Nordisk: NovoSeven: http://www.novoseven-us.com/patient/aboutN7_Overview.aspx
Wyeth: ReFacto: http://www.hemophiliavillage.com/refacto.asp