In 1991, a life-saving treatment was introduced to sufferers of Gaucher Disease, a hereditary disease that bloats the liver and spleen and causes premature osteoporosis. Helen Grange caught up with one of its first patients, Jacolene Fourie, 23 years later
Jacolene Fourie, 30, was four years old when she was hospitalised for tick bite fever. She was prescribed antibiotics, but after two weeks there was no improvement. Doctors were baffled, thinking she may have a serious underlying illness like leukaemia.
After extensive blood testing, it was found that Fourie had Gaucher Disease, a rare inherited condition that causes fat deposits to accumulate in the liver, spleen, bone marrow, lungs and sometimes, the brain.
People with Gaucher’s do not have enough of an important enzyme (glucocerebrosidase) required to break down a certain type of fat molecule (glucocerebroside).
“One of the symptoms is bleeding and bruising (due to reduced blood platelets), and I remember my parents being very protective over me, doing everything to stop me from falling or cutting myself,” recalls Fourie, today a confident and upbeat young graphic designer in Paarl.
More serious symptoms of Gaucher’s are swelling of the liver and spleen, bone pain and early osteoporosis, due to a general demineralisation of the bones. Fourie suffered all of these symptoms growing up. “My spleen and liver were enlarged so I had a big belly. And I’d get bone and back pain, sometimes extending to the legs. That was the osteoporosis,” she says.
Yet she was lucky, because at seven years old, Fourie became part of the first group of patients with Gaucher Disease in South Africa to receive treatment, which became available in 1991 thanks to the late Dr Rene Heitner, a paediatrician specialising in rare diseases.
Fourie flew to Johannesburg twice a month to receive enzyme replacement therapy at the Johannesburg General hospital (now Charlotte Maxeke).
“If it weren’t for those two monthly visits, I wouldn’t have been able to cope so well with my disease. And I met other Gaucher patients, so we shared our difficulties with each other. I’m still in contact with some of them,” she says.
The twice monthly IV infusions are a lifelong commitment for Fourie. The infusions contain Cerezyme, a modified form of the natural lysosomal enzyme glucocerebrosidase, which has been shown to help reduce, relieve or reverse many of the signs and symptoms of Type 1 Gaucher Disease.
“The treatment takes about two hours, and, at first, I felt impatient and couldn’t sit still. Now I just regard it as ‘me’ time,” Fourie smiles.
The boost to her system is remarkable but brief.
“We Gaucher patients refer to our seven-day cycle. After the infusion, you feel great, then by the seventh day you start feeling awful again, and it’s downwards until the next infusion.”
Fourie says that as a youngster, she found it difficult explaining that she couldn’t do what her peers could do. “I was scared to talk about it because people think that if they touch you, they’ll get a disease. As a teenager, I had my few selected friends who knew my condition and why I got so tired sometimes. I’d explain that we are all the same, only I ache inside sometimes,” she says.
About two years ago, she decided she would explain upfront to people she meets that she has Gaucher’s, what it is and its symptoms. “It takes the pressure off me. And when I go home after a braai and don’t join my friends going dancing, they know why,” she says.
Not that it has stopped Fourie living a full life. She completed primary and high school normally, flying from Cape Town to Joburg every two weeks to receive her treatment. In Grade 8 she played for the under-16 hockey team, going on to play for the under-18 B-team and ultimately being chosen as captain. “I was a normal, active teen,” she says.
After school she went to the UK for a year, working as a caregiver to the elderly. “It was an amazing time, even though I had to continue with my IV infusions.”
While it is a rare genetic disorder affecting one in 100 000 worldwide, Gaucher Disease is more prevalent among Ashkenazi Jews (of eastern European descent), where the incidence is one in 1 000.
In India, more than 5 000 babies are born with the condition every year and last month sufferers marched to the prime minister’s house to demand free treatment.
According to Dr Hylton Sevitz, chairman of the Gaucher Society of SA, there are about 80 known Gaucher sufferers in South Africa, “but we believe there are a lot more people out there who are undiagnosed”, he says.
“Over 60 South Africans are on treatment – not every sufferer requires treatment – and 90 percent of medical aids pay, although it’s very expensive, at around R70 000 per month,” he says.
On a recent visit to South Africa, Dr Hanna Rosenbaum, head of the haematology unit at the Rambam Medical Centre in Haifa, Israel, explained that one of the first signs of Gaucher Disease is unexplained bleeding, typically nosebleeds, as well as fatigue. “Children with it are lethargic and may fail to thrive. They may have abdominal or bone pain, which sometimes gets passed off as ‘growing pains’,” she says.
A simple blood test to look at the activity of the glucocerebrosidase enzyme is all it takes to diagnose Gaucher’s, but due to its rarity doctors often overlook this test.
Gaucher’s Disease Type 2 and 3 is much rarer than Type 1, and more severe, affecting the brain (central nervous system) as well as the spleen, liver, lungs and bones. Type 2 is almost always diagnosed in infants by the time they are six months old, and most of these children die by the age of two. While enzyme substitution treatment appears to slow the progression of the neurological symptoms in Type 3, there is no treatment for Type 2.
Because the symptoms of Gaucher Disease vary widely in type and severity, both among the different types and among people with the same type, the prognosis is similarly varied. People with a milder form of Type 1 are expected to have a normal lifespan, while people with severe cases of Type 1 may have debilitating symptoms that are more difficult to manage.
Fourie’s symptoms were quite severe, and she still suffers some of them. “I’m still a bleeder, and I get easily tired. My spleen and liver are still enlarged. Two years ago, I went on a higher dosage of Cerezyme and my red and white blood cell counts are improving. I take calcium supplements every day to fortify my bones,” says Fourie.
Dr Rosenbaum says that her Gaucher patients have occasionally had to have a hip or shoulder replaced due to the onset of osteoporosis, and some patients get addicted to the medication (primarily morphine) to treat bone pain.
“But the IV treatments can reverse the symptoms, and patients often tell me they feel it working in their bones almost immediately. The blood normalises, and six weeks later they feel much better,” she says.
Fourie refuses to let her condition hamper her life, and she has become a rare disease representative working closely with the Rare Disease Society of SA to help others with the same struggles. “These days, I don’t have to sit for two hours in the clinic for the IV treatment. I just take my drip along with me. And with the right treatment, you can live a full life. I’m a positive person. I only look forward,” she says.
She admits, however, that she’s thought long and hard about having children, who would be carriers of Gaucher Disease even if they never manifested symptoms. Her own resolute diagnosis is a little saddening: “No children. It stops with me. When the time comes, I will adopt.”
l For more information, visit the Gaucher Society of SA at www.gaucherssa.co.za