A mother and son are both diagnosed with a rare disease – his, a severe form. They face years of hospital admissions every two weeks for life-saving infusions to treat the disease. Discovery Home Care brings this treatment to the comfort of their home.
Since infancy, 27-year-old Etienne Nortjé suffered from bronchitis, gastrointestinal disturbances, recurrent nausea, vomiting, headaches and fever. He was finally diagnosed with Fabry disease in Grade 11, at the age of 16, in 2009. This diagnosis didn’t come as much of a surprise to his mother, 62-year-old Magriet Nortjé, who also has Fabry disease.
In fact, Etienne’s symptoms corresponded with those experienced by his late uncle, Magriet’s brother, when he was in his early teens. Fabry disease is also apparent in other members of their extended family. Compared to his mother, the disease has manifested far more severely in Etienne. He continually experiences significant muscular and joint pain along with the debilitating burning and sharp pain sensations in his hands and feet.
Etienne’s Fabrazyme treatment began in 2010 and Magriet’s in 2014. At first, receiving the life-saving Farbazyme on a regular basis meant seven years of admissions to hospital every two weeks. The medicine stops the progression of the disease, but cannot reverse it.
“We’d arrive at hospital at 06:45. Even with pre-admission in place, we would wait for doctors and nurses to become available, our medicine to be prepared, endure what sometimes became various attempts by caring nurses to find a workable vein and only start the drip around 10:00. It would then have to run for two hours,” says Etienne. “You organise your existence around your admissions. Your life depends on it. Without the medicine, I would only live to about 40 years old, and likely have a stroke or heart attack. We never dreamed we would be able to receive the same, if not better care, in the comfort of our home.”
A mother and son are diagnosed with Fabry
At the age of 13, Etienne experienced a first bout of intense pain in his feet and legs, hands and forearms. Unable to walk, he was hospitalised with a high fever, diarrhoea and heart palpitations. Doctors did numerous blood tests, but there was no clear diagnosis. After four days, the symptoms cleared up – a cycle that would repeat every six months, with-pain free episodes in between.
Etienne would not receive a diagnosis for another four years, until April 2009, when he was 17. And that was only because his paediatrician attended a seminar abroad where Fabry disease was a topic of discussion. On her return, she contacted Etienne’s physician (an endocrinologist) who arranged for a blood sample to be tested for Fabry disease. Etienne’s came back positive.
Magriet continues: “Suddenly, we looked back at deaths in the family and realised that my mom (who died at age 56), a brother (who died at age 41) and a cousin, had all died of kidney failure, and likely had undiagnosed Fabry. We made it a priority to find out all we could about the condition, particularly as the disease is so rare.” For Etienne, the impact of Fabry disease has been wide-ranging, including that he has not been able to find stable employment. Despite this, Etienne has worked hard at becoming the representative for Fabry under Rare Diseases South Africa and attends international events aimed at connecting people who have this condition or are researching it.
Magriet’s diagnosis came years after her son’s: “Men develop Fabry in their teens, often with very severe symptoms, but many women only start to experience symptoms later in life. One day in 2013, while sweeping our gutters at home and picking up the leaves, I suddenly experienced a terrible pain under my breastbone. I thought I was having a heart attack. I was 55 years old. An angiogram showed thickening in the bottom part of my heart muscle. My treatment included various medicines and we thought I also had late-onset asthma. Etienne had already been diagnosed with Fabry, so I asked whether I might also have it; however, the doctors said it was unlikely. I then saw Etienne’s doctor and, as of September 2013, officially received the diagnosis that I too had Fabry. I started treatment in January 2014.”
Discovery Home Care ends years of hospital admissions for mother and son
In September 2015, Magriet attended a presentation on Fabry disease at the Life Vincent Pallotti Hospital. There she was introduced to Discovery Home Care for the first time. “I could not have foreseen the life-changing impact of this programme, offered through our Discovery Health Medical Scheme (DHMS) membership,” says Magriet.
“We are treated by Discovery Home Care professional nurse, Lexi Johnson,” says Magriet. “She is extremely efficient and professional. She has become a part of the family. We laugh, chat and have a cup of coffee while the infusions take place, and we discuss medical matters with her. She also keeps in touch with us between infusion days to see how we are. As our dedicated professional nurse, she knows which veins to use for our infusions – that means that the needle is inserted once and the infusion starts. In hospital, where various nurses attended to us, finding a good vein would require up to eight attempts, especially for Etienne. He now has a port under his right collar bone to make the infusions easier to administer.”
Home Care professional nurse dedicated to the Nortjés
Professional nurse Lexi - Alexcia - Johnson explains, “When we join the Home Care team, we receive thorough training in the administration of enzyme-based medicine such as Fabrazyme. We also receive training in the pathophysiology of each illness that we treat, and in alleviating side effects of the medicine that we give. We may not have encountered these illnesses in our previous work, even when working in an intensive-care unit.” She cares very much for the Nortjés, adding: “As with all my patients, I take time to talk about what they are experiencing and to establish their needs with each visit. Understanding each patient’s unique journey is fundamental to our work as Home Care nurses.”
Discovery Home Care – a seamless process
The Nortjés receive their Fabrazyme by delivery before infusion day, and they have to keep it refrigerated. Sister Johnson arrives at their home at 08:00 and brings all the medical equipment she needs. “We sit in the lounge, or Etienne lies on his bed, and Sister Lexi keeps track of our vitals, sending a report to Discovery Health at the end of the day. Each of our infusions takes two hours. For the rest of the day, we both rest,” says Magriet.
Etienne still experiences the painful effects of Fabry. Yet, the progression of his disease has slowed. “All things considered, the benefits of being treated at home are significant in bringing a degree of quality of life back for us. We’re in a familiar environment, relaxed, and away from other sick people. If we have to reschedule an infusion day, it isn’t a problem. Sister Lexi really understands us as patients. She recommended that I get a port and because of this, it’s far easier to insert my infusions. We are free to chat, move around, and feel at ease,” says Etienne. “In addition, the cost saving of home treatment compared to hospital treatment is significant.”
Magriet adds, “Our Fabrazyme is very costly and once mixed up, Sister Lexi needs to start administering it within a short time frame to prevent it from losing its efficacy. There are never delays when we receive our treatment at home. Even if Sister Lexi is on leave, Home Care makes sure that we receive our infusions on time. We don’t have to worry. We would definitely recommend Home Care to others in situations like ours.”
DISCOVERY HEALTH MEDICAL SCHEME IS AN INDEPENDENT NON-PROFIT ENTITY GOVERNED BY THE MEDICAL SCHEMES ACT, AND REGULATED BY THE COUNCIL FOR MEDICAL SCHEMES. IT IS ADMINISTERED BY A SEPARATE COMPANY, DISCOVERY HEALTH (PTY) LTD, AN AUTHORISED FINANCIAL SERVICES PROVIDER.
Discovery Home Care
Discovery Home Care is a unique home-based service that offers you quality care in the comfort of your own home when recommended by your doctor as an alternative to a hospital stay if appropriate. With Home Care, there is minimum disruption to your normal routine and family life. Cover includes postnatal care, end-of-life care, IV infusions (drips) and wound care. We pay for these services from the Hospital Benefit as long as you get approval beforehand. Find out more about Discovery Home Care or call 0860 46 22 73.
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