A passion for living

12.02.2020
Patient stories
Annual Report 2019

Haemophilia 101

Approximately 400,000 people live with haemophilia around the world. Approximately 75% of them still have no access to adequate treatment.

However, today, with great strides in medicine, haemophilic patients can be more independent and infuse by themselves, in any type of environment.

Read more about it in Nick's story

Nicholas likes to go for long-distance hikes and enjoys fishing with his buddies. That is when this young sales representative can relax and let his mind wander after a week of hard work. He has lived with haemophilia his entire life and experienced all aspects of this extremely painful disease. Now he devotes his working hours to raising awareness about the illness, and helping other haemophiliacs in the USA live their best lives through his work and his different non-profit organisations.

His story did not begin so positively. At birth, due to complications, Nicholas was forcibly delivered, a procedure which punctured several blood vessels in his head. “I was bleeding – and because of that bleeding, my head went from 22 to 44 cm,” says Nicholas, adding after a long pause, “I had to have a double volume blood exchange through my umbilical cord.” A neurosurgeon explained to his parents, Hema and Michael, that their newborn son was a haemophiliac. Completely exhausted, they tried hard to process this devastating news.

Inspiring support

Over the years, the family learned how to live with haemophilia and, just like other kids, Nicholas spent most of his childhood outdoors, having on-demand treatments to stop his spontaneous bleeds when needed. The family’s life came to a near standstill again in 1998, this time when their son was diagnosed with cancer: non-Hodgkins Burkitt’s lymphoma.

Earlier that year, Nicholas had an inflammation of the appendix, which was removed in emergency surgery. His recovery was not going well and, some days after the surgery, a lymph node in his neck expanded to the size of a golf ball. Doctors at first suggested antibiotic treatment but the lymph node turned out to contain tumour cells. This was a hard situation to digest. “Within a week, I ended up having two surgeries and five tumours excised from my neck,” recalls Nicholas. It was a difficult time for everyone in the family but, thankfully, Nicholas recovered.

Besides depending on the love and support of his parents, Nicholas also became close to his haematologist, Dr Diane Nugent. Over the course of many years, Nicholas and Dr Nugent bonded through his history with cancer, and through her attention and expertise:

“Through the years of cancer I was able to connect and learn more about my haemophilia and about haematology in general.” Nicholas adds, “There is a special bond built with your haematologist at a young age and that is what inspired me then and continues to do so now.”

No limits

Nicholas is a very warm-hearted and curious person. He has a passion for exploring and trying out new things. As a child he wanted to do everything from rock climbing to riding a mountain bike – something so simple yet, for him as a haemophiliac, potentially very dangerous. But his parents fully supported him. “I’ve always been curious. And being curious for me means being adventurous, being able to continuously explore and be outdoors,” says the 28-year-old.

He still recalls his first rock-climbing team. “I joined a mountaineering club at college and climbed outdoors. I was totally taken by this fascinating sport.” Climbing is an endurance sport which needs physical and mental determination. Sadly, in the end, Nicholas had to give up active climbing when his joints and hands simply could not take the physical pressure any more.

However, despite his physical limitations and the damage caused to his joints, Nicholas has the same determination he always had whilst climbing. “No limits,” smiles Nicholas, as he continues, borrowing a quote from the Native American, Tecumseh: “I live my life that the fear of death can never enter my heart.”

“The drug changed my ability to do stuff in life.”

His desire to take on a challenge drove Nicholas to study developmental biology, virology and chemical engineering. After graduation Nicholas launched an exciting career, but life was not always easy for this Californian. At a certain point he had to reduce any physical activities because his joints were so bad. “I was taking about 400,000 units of factor VIII per month, which is a lot of units for a person of 230 pounds [about 104 kilos],” explains the young man. “And I had 72 bleeds in a single year!”

Haemophilia poses a significant lifetime burden in terms of quality of life. It is a bleeding disorder, meaning that the blood-clotting process in the patient does not work properly. Recurrent bleeding into joints is one of the most severe consequences of this incurable disease, as it reduces movement and causes both chronic pain and stiffness.

Nicholas was losing hope. This active young man, who spent his entire childhood outdoors, was now living with almost unbearable pain – or at least he was until one afternoon when he mentioned his pain to Paul Wilk, his current boss. “I remember very vividly when Paul told me about Octapharma's recombinant human coagulation factor VIII, simoctocog alpha (Hcl-rhFVIII).”

A short time later, after his next spontaneous bleed had lasted for about 45 days, Nicholas tried a single dose of the suggested medicine. “It resolved the bleed,” remembers Nicholas. “Now, I am down to just 94,000 units of factor VIII a month and I haven’t had a single spontaneous bleed since I started taking the recombinant clotting factor VIII concentrate, simoctocog alpha.”

Even better, Nicholas is now able to enjoy activities like white-water kayaking and has started hiking again, going to places he hasn’t seen, just to fish. As he puts it, “The new drug has changed my ability to do stuff in life!”

Haemophilia 101

Today has been another hard but rewarding day for Nicholas, who now works as a coagulation sales specialist for Octapharma in California. All day he has had meetings with doctors, pharmacists and patients, educating them on the company’s coagulation drugs.

Nicholas is happy and it goes without saying that he is well aware of the responsibilities he bears when interacting with his stakeholders.

“Being open and transparent is essential to build trust,” says Nicholas. “I help set up events where we talk to haemophilic patients, alongside nurses, and teach them haemophilia 101 – how to infuse in an outdoor environment.”

Like his favourite animal, the wolf, Nicholas loves being out in the wild, enjoying the independence. “I always tell patients, ‘Don’t be afraid to go outside into the wild. Don’t sit on your computer all the time – you can go outside and actually infuse in a non-sterile environment.’ ” With a wide smile he says, “My goal is to get them outside and show them that haemophilia doesn’t limit them but that they can limit haemophilia.” And that is a life lesson worth sharing.

Keywords

Annual report

Engaging with patients

Haematology

Haemophilia