By Jessica Belzycki
Global Rare Disease Day is an annual awareness event, so why don’t we hear more about it? Rare disease patients want Australians to know that even though they “suffer in silence”, they are here and they are hurting.
“It’s like an electric shock hitting your body that pulls out all your energy, and you’re left like a rag doll. If you lie down for 10 minutes it might go away, or it could be 24 hours before it goes away. You just don’t know.”
The unpredictable bouts of debilitating pain are a lifelong battle for rare disease patient, Kathleen MacDonald who was diagnosed with Fabry disease in 2015. Suffering from extreme muscle spasms in either her head or neck, Kathleen says that she regularly thinks to herself, “Am I going to die with this?”
Fabry Disease is a rare genetic condition where patients are deficient in an enzyme that breaks down waste products in the body. This results in a build up of harmful fats that can affect the nervous system and vital organs, such as the kidneys, and the heart.
Despite the life-threatening symptoms of many rare diseases, patients feel that their experiences mostly go unheard, unseen, and unknown. According to MacDonald, having an invisible condition means convincing people that you are not well when you look well.
“It’s very hard to explain to somebody that you’re exhausted, they think in their own terms of exhaustion, they think, ‘well why didn’t you go to bed earlier?’,” she says.
Megan Fookes, managing director of the non-profit patient organisation, Fabry Australia and who is also a Fabry patient, says it is upsetting when people think chronic disease sufferers can “just get better”.
“I went to a conference once and I remember one of the head researchers said, ‘you look fine’. I felt like saying, ‘have you got x-ray vision into my kidneys?’,” Fookes says. “They do not realise that patients suffer in silence.”
Some patients have difficultly maintaining employment because employers have not understood their symptoms or their condition has worsened. Ross Clark has Fabry disease and suffered a kidney failure in 2010 and received a kidney transplant in 2015.
From 2010 to 2015 Clark says that he had dialysis three – four times a week and that this impacted his work life. “They decided that I wasn’t going to fulfil my full time role anymore. It was a real battle to get them to understand because they had no real understanding of what you go through. I saw a lot of colleagues get promoted instead of me,” he says.
Living with a rare disease impairs everyday function and activities that many people do not have to think about. A common symptom of Fabry disease is gastro-intestinal problems and bowel irregularities. MacDonald says that these issues have been a source of embarrassment for her in public settings.
She says, “I won’t take public transport – it’s out of the question for me because if I have to go to the bathroom quick, there’s nothing on public transport.”
Raymond Saich is the president of Australian Pompe Association and has Pompe disease, which is a rare enzyme deficiency disorder like Fabry. Saich, who requires a wheelchair, says you don’t realise when mundane activities become impossible. He says, “I realised that I hadn’t been to the supermarket in six months. It just got too difficult.”
While navigating social barriers, rare disease patients have to face the gaps in medical knowledge and resources. According to Orphanet Journal of Rare Disease over 30% of Australian adults waited 5 or more years for a diagnosis for their rare disease.
Fookes describes late diagnosis as a catch 22, “Late diagnosis means that by the time they are getting treatment those deteriorating symptoms can’t be reversed.”
Diagnosis delay also affects the mental health of patients as they believe that they are imagining their symptoms. Fookes’ father had Fabry disease and prior to his diagnosis in adulthood, he self-medicated with alcohol. She said that as a child he was told he just had growing pains and when he was diagnosed it was a huge relief.
MacDonald has a similar diagnosis story. She recalled when she was 7 years old going to the doctor with pain in her hands and feet and the doctor saying, “there’s nothing wrong with her” and telling her “it’s all in your head”. MacDonald says the widespread delay in diagnosis is because of limited informed doctors and specialised Fabry clinics.
Dr Kathy Nicholls, a nephrologist and the Fabry specialist at the Royal Melbourne Hospital, says that it’s impossible for every doctor to know of every rare disease but that there should be a better system where general practitioners should refer rare disease patients onto more specialised clinics.
Nicholls says that it is harmful to a child’s wellbeing when their rare disease goes undiagnosed. “They’re just miserable. It really affects their education and their whole options in life,” she says.
Early diagnosis seems like a simple solution but many find even armed with this knowledge they still can’t get access to expensive treatment under government subsidies. Fookes says, while today government policies and subsidies have improved due to advocacy groups, before, “rare diseases were not even mentioned in policy. It was like those people don’t exist.”
While Fookes, Saich and Clark have access to necessary treatment, MacDonald says under the government’s criteria she is ineligible for government subsidies for enzyme replacement therapy, the main treatment offered to Fabry patients, because her symptoms aren’t bad enough.
“We go untreated, until you’re basically at death’s door,” she says. MacDonald estimates that the treatment costs $200,000 year without subsidies, although Fookes believes it’s probably closer to $450,000.
Nicholls, however, says that the government isn’t overtly restricting money but at the moment there are ambiguities over who needs treatment and who doesn’t. Fookes says, that while the guidelines for adults might be sufficient, there is currently no guidelines for children and treatment.
Fookes is very involved in advocacy for rare diseases and she believes this is the only way for people to take you seriously. As the managing director of Fabry Australia and the co-founder of Rare Voices Australia, she says that awareness is promoted by teaching people with rare diseases to become active advocates.
She says it’s all about working with the rare disease. “It’s about self-awareness, a self-help approach,” she said. “Not focusing on the negative but more, I’m rare but I’m me.”
MacDonald says she noticed that rare disease organisations struggle to reach the wider public as they cater to a small, niche group of people.
Fookes, however, says there is strength in numbers and while each rare disease separately doesn’t hold a lot of power, together they are influential. She says, “When you put us together with all the rare diseases there are a lot of us.”
“We become 1 in 12 Australians who have a rare disease, that speaks more loudly doesn’t it? They have to listen to you,” Fookes says.