Rare Disease Day was on 28th February 2019. It commemorates those living with rare illnesses and disorders. Simran Borges spoke to four patients who described their challenges and experiences.
“I was told it was all in my head… everyone said, ‘you’re crazy,” Kathleen Macdonald, a patient suffering from the rare disease, Fabry, said.
Rare diseases are defined as disorders that affect less than 1 in 2000 people. They are often hereditary and have no cure.
In Australia, around 1.2 million people suffer from rare diseases, with 400 000 of those being children. Some examples include cystic fibrosis, haemophilia and muscular dystrophy.
Diagnostic delay, misdiagnosis, difficult symptoms and, a lack of awareness, are common challenges of rare diseases, patients say.
“You’ll get a lot of ‘you’ve got symptoms that can’t be explained’, so you go to the GP, but they don’t understand it. It wouldn’t be uncommon for patients with late onset disease to go years, they’re talking 5-10 years, without a diagnosis,” rare disease patient, Raymond Saich said.
“I’ve been lucky to hunt out some decent doctors who know a lot about it. But again, that takes a long time, 20 odd years it’s taken to hunt down some decent [specialists],” Ross Clark, another patient said.
Kathleen described some symptoms as “an electric shock hitting your body that pulls out all your energy.”
“You’re left like a rag doll. If you lie down for 10 minutes it might go away, or it could be that it’s 24 hours before it goes away. You just don’t know,” Kathleen said.
“Your fatigue levels are just extreme. You can’t even get out of bed some days and it’s just horrible,” Ross said.
Often, for rare disease patients, symptoms present themselves as early as childhood however, they are not always taken seriously, patient and managing director of Fabry Australia, Megan Fookes says.
“When you talk to a lot of people they say, ‘our childhood was a lot of pain’…but they were just fobbed off as having growing pains, you know, ‘you’re just growing’.
“My dad was told he had growing pains and he was really suffering quite badly but after he had his diagnosis he went ‘oh for God’s sake that’s why all my childhood I was in agony’”, Megan said.
For these 4 sufferers, they are all diagnosed with the same disease – Fabry.
Fabry is a rare genetic disease that affects fewer than 5 in 10 000 people. Currently in Australia, there are only 300 patients who visit Fabry specialist clinics.
Fabry patients lack a specific substance in the body. This causes the build up of fat around vital organs, like your kidney and heart, until “it finally strangles you”, Kathleen says.
Similar to most rare diseases, diagnostic delay, a lack of awareness and ‘invisible symptoms’ are the major challenges of Fabry, patients say.
For Kathleen Macdonald, who is now over sixty, her symptoms started affecting her when she was 7 years old however, she was only formally diagnosed with Fabry, a couple years ago.
“As a little girl, I can remember seven years old, going to the doctor with my mum about the pains in my hands and feet, and my rib area.”
“I remember the doctor saying, “it’s just growing pains…because they’d never heard of Fabry back then… So I’ve only known about it, probably since about 2015,” Kathleen said.
The only way Kathleen was able to get this diagnosis, was because of a referral letter from her cousin, who was diagnosed with Fabry, and shared the same symptoms as her.
“Because there’s only one doctor in every state, without that letter from my cousin, my waiting period would be one year to see him,” Kathleen said.
Diagnostic delay with Fabry is because of the lack of awareness around the disease, in both the general public and medical community, patients say.
“With my work, it was a real battle to get them to understand, because they had no real understanding of what you go through,” Ross Clark said.
“[In terms of medical awareness] I mean … we’ve done letters to doctors, we’ve done letters to GP’s, all sorts of things to raise awareness. But you know there’s so many rare diseases that I can understand it from their side, you can’t keep track of everything,” Ross said.
The ‘invisible symptoms’ that present themselves with Fabry, have contributed largely to this lack of awareness, Kathleen says.
“One of the hardest things, is trying to convince people that you’re not well, when you look well,” Kathleen said.
“People with Fabry’s don’t look sick. I mean even when I see friends it’s like, “oh yea, you’re looking well”, and you know yourself you’re not feeling particularly great.
“It’s things they’re not aware of. I have a lot of edema in the legs (leg swelling), so the bottoms of my legs are swollen all the time, and I would wear shorts and that, but they wouldn’t really notice,” Ross added.
Dr. Kathy Nicholls says that the ‘invisibility’ of Fabry often affects children the most.
“Children can’t express quality of pain. They’re just miserable and that really affects their lives, they miss school and people think they’re wimps.”
“It really affects their education and their whole options in life,” Dr. Nicholls said
Organisations, like Fabry
Australia, who participate in Rare Disease Day each year, advocate for more
awareness and support of the disease.
“It’s really about trying to get it out of the closed quarters of ourselves and our own families and friends and take it out more widely. And Rare Disease Day is such a big day now. It’s over 90 countries that participate,” managing director of Fabry Australia, Megan Fookes said.
One of the most important things that Australia needs to know about rare diseases is tolerance, Raymond Saich says, who suffers from Pompe, which is a disease in the same family as Fabry.
“We are a special community…we’re a small community,” Raymond said.
Although rare diseases, like Fabry, only impact a small part of the population, there are many ways for the general public to help, through education and a greater understanding.
Fabry Australia aim to bring patients together so that they have a wider support network, Megan says.
“The support group brings us together, unites us to make sure that we are speaking from the same pin book, that if we need to influence something, we can do it.”