Wearing her bruises with pride: Living with von Willebrand disease

Growing up, Debbie was told many times that she would never have children and was unlikely to live into her forties. Today, aged 59 and married with two children, she sometimes finds it difficult to believe just how far she has come and how much she has achieved.

Born in Johannesburg, South Africa, Debbie was about six weeks old when a mosquito bite on her lip would not stop bleeding. Her uncle, a paediatric neurologist, suggested running a test for a bleeding disorder which showed Debbie had type 3 von Willebrand disease (VWD). “This was back in 1962, and only one other woman in South Africa had been diagnosed with type 3 at that time,” explains Debbie.

Type 3 is the rarest and most severe type of VWD, occurring in just 3% of people diagnosed with the disease. A person with type 3 VWD has very little or no von Willebrand factor (VWF), and without VWF to act as a carrier, factor VIII levels in the blood also drop significantly. Type 3 patients usually show severe bleeding symptoms and benefit from prophylaxis with VWF concentrates. VWD is predominantly an inherited condition resulting from the affected gene being passed from the parents to the children, but in some cases a mutation in the VWD gene can occur spontaneously.

Growing up

During her early childhood, Debbie experienced many significant nosebleeds which landed her in hospital, where she was given plasma or whole blood as these were the only treatment options available to her. “The bleeds were torrential,” she recalls. “It could sometimes take hours for us to stop the bleeding.” Later, she had ankle bleeds at least once a week throughout high school. It was around 1972 when Debbie started using plasma cryoprecipitate (cryo), a frozen blood product prepared from blood plasma, as a treatment.

When she started to menstruate, she almost immediately developed severe menstrual bleeding, lasting up to 30 days. She was given full blood transfusions and recalls once, when her haemoglobin was particularly low, being sent home by a doctor who told her family: “We have done all that we can for her; I do not think she is going to make it.” Fortunately, a gynaecologist prescribed hormonal therapy which helped control her heavy menstrual bleeding.

Despite this difficult childhood, Debbie feels fortunate to have been diagnosed so early. “Men can be adults when they find out. Girls sometimes only find out when they start menstruating, and a lot of people do not ever find out that they have bleeding disorders,” notes Debbie. VWD is the most common hereditary bleeding disorder. It is estimated that up to 1% of the population is affected by VWD. It is estimated that 90% of those needing treatment are unaware they have the disease and are left untreated.

Living through the tragedy of the 1980s

People with bleeding disorders require regular infusions of clotting factors. In the early 1980s – with none of the sophisticated screening for transfusion-transmissible infections (TTIs) and the viral reduction steps used in today’s manufacturing processes – contaminated blood products reached the global haemophiliac population which imported USA-made concentrate, including people in South Africa. Infusions with infected concentrates led to a devastatingly high number of recipients being infected with blood-borne pathogens such as HIV and hepatitis C.

Debbie knew many haemophiliac boys using factor products at that time, though she could not access the products herself because they had not been licensed for people with VWD. Debbie lost many friends and loved ones to AIDs contracted via the contaminated concentrate: “Every single boy with whom I grew up in South Africa who had haemophilia died of AIDS,” she remembers with great sadness. She believes the doctor who refused to give her factor saved her life, though she was infected with hepatitis C (almost certainly from a contaminated blood product), which was to lie dormant for 25 years before being later cured in an early clinical trial.

Octapharma was the first company to apply solvent-detergent (S/D) virus inactivation in the routine production of plasma-derived products. The S/D process, in conjunction with other critical viral inactivation steps, has delivered a proven record of no known viral transmissions for three decades.

Starting a new life in the USA

In 1986, whilst still on cryo, Debbie moved to the USA, hoping to launch her acting career. Sadly, at that time, people with bleeding disorders could not get insurance to work on stage or screen. “I had spent years training to be an actor,” remembers Debbie. “But if I was not going to be able to act, then I had to find a new dream, so I went into working behind the scenes in a production company. I met Howie soon after, we got married, and I got pregnant very quickly.”

Debbie accepts that she has been very fortunate to have the best doctors around her, even when pregnant: “I always felt like I was in good hands.” Nevertheless, she faced enormous challenges. For the six months after she gave birth to her son, she had many bleeds and had to infuse every single day. “And then, just three months later I was pregnant with my second child. You would think you would not want to go through it again, but I did.”

Debbie has experienced all aspects of this painful disease: “I cannot describe to you how painful a bleed is. It is just off the charts painful. Imagine a tiny little joint has this fluid pumping into it, and it is just getting bigger and bigger, and it has no place to go, so it is sending these signals to your body,” explains Debbie. She is, occasionally, very depressed. “There are times where I just want to curl up and go to sleep and say, ‘Leave me alone, I do not want this’...”

Debbie has tried all sorts of treatments, but today she uses Octapharma's von Willebrand/coagulation factor VIII concentrate. She is confident about the safety of its manufacture and she is optimistic. “Now that I have learned how to infuse at home and I am doing regular prophylaxis, I have real hope for my future. Things feel more stable. There is still a part of me that is preparing for the point where I am not going to be able to infuse myself, but we will plan for that and I know we will get through.”

VWD made me who I am

Keen to see more people with bleeding problems get diagnosed and receive the treatment they need, she raises awareness of VWD in her free time and does a lot of work with the New York Blood Center. “I do motivational speaking for them, speaking to potential and actual donors, some of whom donate hundreds of units a year," explains Debbie. “Even though I am not necessarily getting their blood plasma, they love to meet me and have a face to put to their donations.”

Debbie admits there have been limitations in her life, but she has learned to adapt and believes VWD has made her who she is.

“I read about women saying they have terrible bruises and feel so embarrassed because people think that somebody is beating them," says Debbie. “I just say, wear your bruises with pride. They are part of you and part of your journey. If you wear them with confidence, if you own them, now that’s a thing…”