Surviving the unknown

09.02.2020
Patient stories
Annual Report 2019

Dealing with the diagnosis

As most von Willebrand disease (VWD) patients experience very mild symptoms, a certain lack of awareness surrounds the disease.

VWD is thought to be the most common inherited bleeding disorder: it is believed to affect 1% of the world’s population.

Read more in Sebaga's story below

Nelly, the mother of three children living in Botswana in southern Africa, knows only too well what a lack of access to medicine and medical capabilities can mean. Sebaga, aged 11, her youngest daughter, was born with von Willebrand disease (VWD) but was only diagnosed seven years later.

Most people thinking of the Sub-Saharan nation of Botswana picture its diverse animal population or its breathtaking landscape, including the timeless expanse of the great Kalahari Desert and the crystal-clear waters of the Okavango Delta. Yet there is another Botswana, a vibrant nation which has transformed itself in recent years from one of the world’s poorest countries to a middle-income one.

In Botswana, access to healthcare continues to be an enormous challenge. A lack of awareness, medical know-how and equipment to diagnose certain bleeding disorders, including VWD, represents a serious problem. This means that patients with bleeding disorders – like Sebaga – are very vulnerable. Currently, the number of patients diagnosed with VWD in Botswana is six, in a country of over two million people. Through its Continuing Medical Education (CME) initiatives, Octapharma is supporting doctors to improve their awareness of bleeding disorders, which helps more and more patients like Sebaga to be diagnosed.

A mother’s intuition

When Sebaga was born and the nurse gave her an immunisation injection, the prick from the needle didn’t stop bleeding for more than a day. Over the first months of Sebaga’s life, her mother noticed other instances of prolonged bleeding that resulted from even small scrapes. Nelly was scared. She hadn’t experienced this with either her elder son or daughter when they were babies. “Something was not OK, I told myself,” she recalls.

In her early childhood, Sebaga had recurrent bleeds requiring hospitalisation, with some of the internal bleeds being life-threatening to the little girl. Exhausted, she often had severe headaches and could not even walk because of the pain.

“Sebaga only got worse, and she fell into a coma twice,” her mother recalls. She was given a blood transfusion five times and yet nobody knew the cause of her problems.

Desperately wanting an answer, Nelly ran from paediatrician to oncologist. “After so many results, we were finally sent to a haematologist, who told us about the possibility of von Willebrand disease,” Nelly says.

Dealing with the diagnosis

Nelly now had an answer but it wasn’t one she fully understood yet. Worse still, following results from a blood test, it was confirmed that the little girl had Type 3 VWD – the rarest and most severe form of the disease. Sebaga was just seven and a half years old at that time.

Nelly felt overwhelmed and at a loss for information, remembering that “up until this point, I had heard about haemophilia but didn’t have any other knowledge about other bleeding disorders”.

VWD is the most common inherited bleeding disorder and affects the body’s blood-clotting process. There are several forms of the disease, known as Types 1, 2 and 3. In patients with VWD, a genetic mutation results in the absence or defective production of the critical blood-clotting protein called von Willebrand factor (VWF). As treatment, patients receive intravenous infusions of VWF concentrate.

Often underdiagnosed, VWD is believed to affect 1% of the world population, but the prevalence of those who have symptoms and need treatment is believed to be about 1 in 5,000. It is estimated that 90% of those needing treatment are unaware they have the disease and are left untreated.

Nelly was shocked to hear from a local bleeding disorders specialist that her daughter was the only person diagnosed with Type 3 VWD in the country at that time.

But, as Nelly explains, Sebaga’s diagnosis also brought other worries: “What kind of treatment would work? How would I pay for it, and how would I make up for missing time from work?” Nelly is a single parent supporting all three of her children. “I was dreaming up nightmarish scenarios, but I was also willing to fight for my little princess,” Nelly says.

Adjusting to a new life

In the bustling capital Gaborone, three years after Sebaga’s diagnosis, Nelly prepares dinner for her family. Tonight, she will serve homemade pasta, with a salad and baked tomatoes that she picked from her garden. “My little baby has been so weak,” Nelly explains, looking at Sebaga playing with the pasta dough. Instantly, the child looks up at her mother, holding a piece of dough in the shape of a heart, and laughs. “She loves to help me with the cooking and be creative with the dough.” Nelly smiles: “Life has become much better as we now know what we are dealing with.”

At the end of 2017, Sebaga started treatment with Octapharma's von Willebrand/coagulation factor VIII concentrate. Now, she is on weekly prophylaxis and has regular follow-ups with a paediatric haematologist every three months. Like many kids her age, Sebaga is very inquisitive and always on the go.

Now 10, she is not only beautiful and adventurous – like her cartoon hero Princess Sophia – but she is clearly involved in managing her condition and is learning how to adjust to life with VWD. She has an interest in science and understands her disease, learning some of the disease terminology and actively engaging in conversations when she visits the clinic.

Sitting in the family’s dining room, Nelly says, “Without access to her treatment, she would not be able to do the things she loves with the people she loves. Now, everything is much better! Gone are those long bleeds.”

Sebaga knows the story but, as her mother speaks, she leans against her. “Despite everything”, Nelly says firmly, “Sebaga inspires me to do more in life. We’ve been through a lot together – we have hope and love!”

Keywords

Annual report

Haematology

Engaging with patients

von Willebrand disease