Progress in haemophilia: a personal perspective

For a disorder with such a long history, treatment for haemophilia wasn’t discovered and available to patients until relatively recently. Imagine being a young boy, playing in the school-yard with your friends, and living in fear of a bleed because the only treatment option available to you is rest and an icepack. For Brian O’Mahony, Chief Executive of the Irish Haemophilia Society and President of the European Haemophilia Consortium, this was the reality of childhood.

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Brian O'Mahony, Chief Executive, Irish Haemophilia Society; President, European Haemophilia Consortium

“There was literally no treatment for haemophilia when I was born. Bleeds were common and they would take a long time to resolve”, says Brian, who lives with haemophilia B. “My mother lost two sons to haemophilia before I was born, so you can imagine that the greatest fear was that you would get a bleed and die.”

While treatment options were limited in his younger years, Brian has witnessed first-hand the strides that have been made in the treatment of haemophilia and has seen quality of life vastly improve for patients over the years. By the time he was a teenager, factor concentrates (in which the missing clotting factor is taken from human plasma, a component of the blood, and concentrated) had been discovered. This treatment became readily available in Ireland as he embarked on his academic career in Dublin, allowing him greater freedom and enabling him to treat bleeds at home, should they arise.  “Growing up with haemophilia, you don’t know anything different – it’s your norm. For me, it’s still not routine to give myself an IV injection a few times a week, but having that be an option meant I could pursue my dreams and worried less if I did experience a bleed because I knew I didn’t have to deal with the complications of going to the hospital for treatment.”

Engaging with the community

In 1982, after completing his education in biochemistry, Brian’s uncle encouraged him to give back to the community by joining the board of the Irish Haemophilia Society for a one-year assignment. That proved to be the mere beginning of his longstanding engagement with, and advocacy for, the haemophilia community. Through participation on the board, Brian was introduced to many men with haemophilia and their families who, like him, were living with haemophilia and he became intimately aware of the challenges they faced and the needs of the community both at home and abroad.

In addition to the everyday challenges of living with the disorder, HIV hit the haemophilia community in the early 1980s, particularly those living with haemophilia A, due to contaminated clotting factor concentrates. The devastation caused by this epidemic, as well as an insight into the needs of patients in developing countries following attendance at the 1984 World Federation of Hemophilia congress, solidified for Brian the need to continue advocating for the community. “It was a tough time for the community – no one wanted to speak publically about what was going on and how people were affected. By the mid to late 80s, the impact of HIV on our community had become quite noticeable and that really spurred me to get even more involved. I was fortunate to escape infection with HIV but I felt a strong obligation to help my friends and colleagues who had not been as fortunate”. Since that time, he has been heavily involved not only in Ireland but also globally, playing an instrumental role in helping underserved countries develop and implement strategic plans for better treatment and access.

Brian notes that the haemophilia community at large has always been tight-knit and very active, but he has also seen changes in their approach to treatment and management of haemophilia over time. “This generation in particular wants to be included in decision making around their healthcare – they aren’t willing to just take a directive from their doctor. Today, patients and their families engage in dialogue with their doctor around treatment options, how they best suit their needs and lifestyle, and take care to adapt this over time to ensure their needs in managing their condition are being met.”

Advancements in haemophilia

When it comes to treatment and meeting patient needs, Brian says that from his point of view the biggest advancement in the field of haemophilia to date has been the availability of at-home treatment. For many, this means the ability to treat a bleed as soon as it happens instead of having to travel to a clinic or hospital, as was the case in past years. Rapid treatment of a bleed allows the patient to prevent the bleeding from progressing into a joint or muscle and minimises the potential for long-term damage. In addition to being a large improvement from a medical standpoint, this has also significantly improved quality of life for patients and their families.

While there have been improvements in quality of life and the potential for more rapid treatment of bleeds, Brian says that treatment is different for each patient and hurdles remain. In countries where treatment regimens are more readily available, venous access can be a challenge for some patients and the need to infuse medicine intravenously, sometimes multiple times a week, can be a daunting task for both children and adults. Furthermore, access to treatment is variable, particularly in emerging countries where even a standard treatment like factor concentrates that could help patients to manage their disorder are not readily available. It is estimated that 70% of people with haemophilia globally have little or no access to treatment.

Despite these challenges, Brian holds great hope for the future of haemophilia. To-date, he notes that advancements in the field have been incremental in nature, and that innovation over the last two and a half decades has been moderate.

“What’s promising is that with the products coming in the pipeline now and in the next five years, we’ll see more change in the haemophilia landscape than in the last 25 to 30 years,” says Brian when talking about the future of haemophilia. “We’ve had practically no new innovative treatments in this time, and it’s exciting that new options might provide better care and quality of life for patients.”

When asked what his overarching advice is to the haemophilia community, Brian says that it’s important that patients and family members continue to educate themselves and constantly strive for improvement, while setting realistic goals. With proper planning and treatment, he notes that living with haemophilia can be manageable, and the disorder doesn’t have to limit daily life.

As a leader in the community and one with a strong voice, Brian O’Mahony has great hopes for the future of haemophilia treatment as well as the younger generation of people with the disorder, who will become the future leaders in this community.

To learn more about the haemophilia organisations Brian is involved with, please visit:http://www.haemophilia.ie/ or http://www.ehc.eu/.

Learn more about the history of haemophilia in the timeline below.

Haemophilia care through the ages

Haemophilia is a relatively uncommon disorder, but it has a long history dating back at least 2,000 years. In this timeline we explore some of the key milestones and treatment advances to date.

  • ~100 AD: Excessive or abnormal bleeding was first recorded in the Jewish Talmud, when a ruling exempted a woman’s third son from being circumcised if his two elder brothers had died from bleeding following the procedure.
    ~100 AD: Excessive or abnormal bleeding was first recorded in the Jewish Talmud, when a ruling exempted a woman’s third son from being circumcised if his two elder brothers had died from bleeding following the procedure.
  • 1828: Disorder officially named “haemorrhaphilia”, meaning ‘love of blood’. It was later shortened to haemophilia.
    1828: Disorder officially named “haemorrhaphilia”, meaning ‘love of blood’. It was later shortened to haemophilia.
  • 1904: Haemophilia becomes prominently associated with the royal family. Alexei, Queen Victoria’s great-grandson and son of Tsar Nicholas II, is born in Russia and becomes the most well-known haemophilia patient.
    1904: Haemophilia becomes prominently associated with the royal family. Alexei, Queen Victoria’s great-grandson and son of Tsar Nicholas II, is born in Russia and becomes the most well-known haemophilia patient.
  • 1947: Discovery of two most common types of haemophilia – factor VIII deficiency (haemophilia A), and factor IX deficiency (haemophilia B).
    1947: Discovery of two most common types of haemophilia – factor VIII deficiency (haemophilia A), and factor IX deficiency (haemophilia B).
  • 1960s: First treatment for haemophilia discovered. Separation of factor VIII from blood plasma allowed for outpatient treatment of bleeds and enabled patients to have surgery, neither of which were previously possible for people with haemophilia A.
    1960s: First treatment for haemophilia discovered. Separation of factor VIII from blood plasma allowed for outpatient treatment of bleeds and enabled patients to have surgery, neither of which were previously possible for people with haemophilia A.
  • 1970s: Availability of frozen, concentrated plasma-derived factor allows for home treatment. This important discovery meant more immediate treatment of bleeding episodes, greatly enhancing the quality of life for people with haemophilia.
    1970s: Availability of frozen, concentrated plasma-derived factor allows for home treatment. This important discovery meant more immediate treatment of bleeding episodes, greatly enhancing the quality of life for people with haemophilia.
  • 1984: Factor VIII gene successfully cloned by Genentech scientists allowing for production of recombinant (genetically engineered) factor VIII and an improvement in the safety, effectiveness and availability of treatment.
    1984: Factor VIII gene successfully cloned by Genentech scientists allowing for production of recombinant (genetically engineered) factor VIII and an improvement in the safety, effectiveness and availability of treatment.
  • 1990s: First recombinant factor VIII and IX products approved by health authorities making treatment more widely available to patients. Recombinant factor VIII products remain the mainstay of treatment today.
    1990s: First recombinant factor VIII and IX products approved by health authorities making treatment more widely available to patients. Recombinant factor VIII products remain the mainstay of treatment today.
  • Present Day: Advances in treatment to date have dramatically improved survival and quality of life for people with haemophilia. Children diagnosed today can look forward to a normal life expectancy, as compared to a life expectancy of only 11 years in the early 1900s.
    Present Day: Advances in treatment to date have dramatically improved survival and quality of life for people with haemophilia. Children diagnosed today can look forward to a normal life expectancy, as compared to a life expectancy of only 11 years in the early 1900s.