Every breath that Martie takes is a miracle

Just before her 40th birthday Martie finds out she has a terminal disease – PAH

A teacher-trainer by profession, Martie has a master's degree in adult literacy and educational leadership. She's also travelled the world, living in Britain, Turkey and Australia for most of her adult life before her diagnosis prompted her to return home to her parents in Potchefstroom. Some five years ago, while living in Australia she felt so run down that she became worried, and went to see a doctor who suspected her fatigue was linked to her thyroid or an iron deficiency.

"He played around a lot with those two things and ultimately I was hospitalised with a blood clot, which I later discovered was a natural complication of PAH," she explains. She got to the point where she just wanted to be left alone in her bed. A sleep study revealed she didn't have sleep apnea. But, the sleep specialist also said that her oxygen levels fell to alarming levels at night, which explained her lack of Rapid Eye Movement sleep -  because her heart was pumping at double the normal rate.

One month before her 40^th birthday she was told she had a terminal disease - PAH. It had apparently started in her 20s but she became so conditioned to the insidious lung deterioration that she hardly noticed. "It creeps up on you so slowly that it becomes your normal. You don't go from being well to being sick in 48 hours," she says. "Also, there's an element of not wanting to admit you're feeling challenged - but it's hard not to because the arteries in your lungs harden, close and die."

Returning home to her parents and five adults siblings, she had to comply with the standard medical aid 12-month waiting period (overseas medical aids aren't taken into account). Joining Discovery Health Medical Scheme simply blew her mind, as access that the scheme provided to her triple drug therapy changed everything. She went from sheer exhaustion to being able to get out of bed, shower and wash and dry her hair. Later she could attend the annual local Aardklop Festival and dine out at restaurants - for the first time in three years. "It's phenomenal. I cannot explain it. Before it wasn't feeling a sort of sleep-deprivation tired - it's a tiredness in your bones. Only now am I able to distinguish between sleepy-tired and pure fatigue' she adds.

Martie's heart shows signs of improvement - despite the odds

Going out is a bit of a logistical nightmare. She has to pull the 3kg OxyDaisy around on wheels behind her and carry her intravenous pump in what looks like a computer laptop bag. While delighted at being able to travel around, there are other challenges. She has to mix a fresh bag of intravenous medicine every 20 hours and the pump for her trusty Oxydaisy needs recharging every two hours. With her characteristic dark humour she adds, "I really hope I don’t get my handbag snatched with my IV pump in it!"

From about May 2017 her heart function had already improved by 27%. Before her diagnosis, her resting heart rate was double the normal rate. "That means that when I was resting my body thought I was running a marathon," she adds. Yet she's aware that as time goes on, the drug dose will have to increase to slow the inevitable progression of the disease, as will the pay-in costs, already nearing R30 000 per month. Her pulmonologist recently told her she'll probably have to double her dosage. "I told him, that there's no way I can pay that!," she recalls.

"I never really believed in God and miracles but admit I am a living a miracle," she says. Asked about her crowd funding initiative, Martie says the reaction has been phenomenal. It seemed impossible for her to have funded the drug co-payments for the 20 months, yet she has. "Yes, I have some contacts abroad, but complete strangers are opening their hearts and their pockets to me. There are even some small R100 donations, but from the same people every month. It blows my mind," she says. She fears that crowd-funding is not sustainable but tries not to think about what will happen if people stop giving. "I don't think I'm brave enough to look too deeply into it,"she adds. She tries not to think about the future because she has no idea of what it holds. It's hard to get used to the idea of a heart/lung transplant, a highly risky measure of last resort.

Changing the prospects for fellow PAH sufferers

There are 35 PAH patients registered with the Pulmonary Hypertension Association and conservative estimates say around 100 South Africans have the disease.

Turning predictably to her advocacy role, she also says that PAH is a common co-morbidity of HIV/AIDS and that the estimated 100 PAH sufferers in South Africa is a gross underestimation. The Ilprost regimen she's on is the treatment drug of choice in Europe, yet Iloprost still has to be imported to South Africa. She completely understands that other diseases are far more prevalent and deserving of new drug registration priority. Yet, without proper treatment the average life expectancy for PAH sufferers is 2,8 years. To secure special permission from the Medicines Control Council to import any drugs unregistered in South Africa can be a six-month process. Then one has to secure financing.

Most PAH sufferers simply die first - that's because few have the money or expertise to secure compassionate use of locally unregistered drugs in the first place. Martie hopes her remarkable return to functionality will show decision makers that the combination of drugs work phenomenally well - if you can overcome the financial barrier to access.

Martie and the Rare Diseases South Africa organisation are looking at ways of funding more PAH sufferers' medication. "It's quite a position to be in. It's not like a pace-maker which is a one-off expense to keep you alive. It's not a nice feeling knowing that if you can't make the next payment you’re going to die,” she adds

She'd like to return to her chosen profession but it's simply not viable. She either has to deal with the side effects of the medicines, such as nausea and diarrhoea, or with the PAH symptoms themselves. Neither are predictable. "It's very difficult to say I'll commit to teaching a class at 9am on a Tuesday morning and then find myself stuck in the loo,' she quips. It's high stakes stuff, but she has a hugely supportive family with siblings who visit her whenever they can.