Mark Skinner, President of the World Federation of Hemophilia (WFH) from 2004-2012, is a Washington-based Attorney with an extensive background in public policy. He was chair of the NHF Advocacy Committee responsible for successfully championing funding for compensation of people with haemophilia who were infected with HIV by blood products in the US.
What was your experience of growing up with haemophilia?
I was born in 1960 and diagnosed with severe haemophilia A at birth. My older brother had been diagnosed when he was two so they knew to test me as a newborn. We grew up in a small town in rural Kansas. Apart from my brother, I didn’t meet anyone with haemophilia until I was a teenager.
When I was born, the prognosis was not good. My parents were told there was a strong likelihood we could die young or would grow up severely disabled. As children we were never told this. However, around the age of 6, I was fitted for a leg brace due to significant joint damage. I was then told that I would likely never walk again without assistance or would need a wheelchair.
It felt isolating at times. I remember sitting on the swings watching my classmates jumping on the trampoline, or playing baseball and soccer. But looking back, I can say I had a relatively normal childhood, largely due to the support of my family and friends, especially my mother who was a very strong, practical and matter-of-fact person.
Can you tell me about your treatment growing up?
The nearest treatment centre, the University of Kansas Medical Center, was four hours away. Cryoprecipitate was discovered in 1965 and our local physician learnt to make cryo for us. The first clotting factor concentrates came in the 1970s, although not highly purified they certainly were the next step up from cryo. They started producing lyophilized products, which we kept locally, but we were still reliant on replacement donations.
Had it not been for my parents, it would have been easy to fall behind in school due to the time spent in bed or hospital. The importance of education was highly stressed. As children we were taught the importance of our minds over our bodies. Don’t plan a physical career, we were told. I had three uncles who were lawyers. They were great role models. I always had an interest in government and public policy. By the 1980s I was in law school and working for the state legislature.
Can you tell me about your experience of the HIV/AIDS crisis?
When factor concentrates were introduced commercially there was a golden era when quality of life improved and a more normal life seemed possible. Then in the early 1980s it became obvious that there was a problem with the blood supply. As we were the canary in the mine shaft, it showed up first in the haemophilia community. Developed countries were hit the hardest because of the wide use of factor concentrates. I was one of the 10,000 people with haemophilia in the US who contracted HIV. I was told not to disclose my HIV status. I told my parents, but no one else; I didn’t tell my friends not even my brother. There was a huge stigma and fear. There was a lot of discrimination at this time. The famous example is Ricky Ray and his brothers who were kicked out of school; out of fear hundreds of parents had petitioned against them being allowed to attend. Their house was burnt down and they were forced to leave town. Ricky Ray died in 1992, but his story came to represent the injustices of that time and in 1998 Congress passed the Hemophilia Relief Fund Act, making a compassionate payment to those who contracted HIV from tainted blood supplies.
How did this crisis change treatment?
I am a perpetual optimist. What happened to the Haemophilia community in the 1980s and early 1990s was tragic, but what is remarkable is the strength of the national network built upon this tragedy; the collation and advocacy in communication it inspired. It propelled forward the need for research for safer products. So many diseases do not have the excitement that still goes on today, for a rare disease group there is so much going on in research and development.
How has treatment changed in your lifetime and what is treatment like today?
Treatment has evolved considerably in my lifetime. Firstly, the discovery of Cryoprecipitate in 1965 by Judith Pool, and then in the 1970s the arrival of the first commercially available FVIII. After the terrible events of the 1980s, the introduction of virus inactivation and new technologies was an enormous step forward in treatment.
However, treatment is expensive and thus access remains a significant global challenge. In the US, health insurance coverage has been a significant problem. Pre-existing conditions such as haemophilia have been very difficult to cover and until recently many policies had lifetime limits on coverage.
The WFH has achieved significant progress toward achieving its vision of “Treatment for All” people living with bleeding disorders, regardless of where they live. The WFH is working to close the gap between the estimated and the actual number of people living with bleeding disorders, the gap between the amount of products needed and those available, and the gap between those born with haemophilia and those who reach adulthood.
What do you hope to see in the future of treatment?
While access to prophylaxis is life changing, it presents health economic challenges. Every patient dreams of, if not a genetic cure, then a therapeutic cure. Until then, what is important today is optimising and personalising care. Today, the risk of inhibitor development is the most significant adverse event, far eclipsing the risk of viral infection. We need to continue the efforts to reduce and eliminate this risk.