“You don’t realise how good something is until it’s taken away from you.”
Those are the words from Halls Head mother Tania Macdonald, who has been living with Fabry disease her whole life.
Those with the lysomal storage disorder are missing, or do not have enough of, a specific enzyme that is responsible for helping the body to break down fatty substances.
This can cause the build up of these fatty substances in the body and impact key organs, such as the kidneys and heart, potentially leading to multi-organ failure including kidney failure, heart attack and stroke.
It is estimated to affect between one in 40,000 to one in 117,000 live births.
The 57-year-old has suffered terribly from the rare genetic disease since before she was diagnosed 25 years ago.
“My whole life, and even as a child, I was sickly,” she said.
“My parents used to have me at the doctors all the time, it must’ve cost them a small fortune.”
Ms Macdonald said she had been managing her symptoms for the last seven years with the clinical trial of a new treatment, until circumstances beyond her control recently changed.
“Unfortunately I was taken off the drug three months ago because my results had gone outside the criteria boundaries so that took me off the trial,” she said.
“You just go along every day thinking things are going fine but you don’t realise how much something is helping you until you don’t have it.
“The pain level has just been dreadful and the amount of painkillers I have to take now – it’s back with a vengence.”
New treatment available
But things are looking up for Ms Macdonald with the Australian government listing a new, oral medicine on the Life Saving Drugs Program (LSDP) for Australian patients with Fabry disease.
Federal health minister Greg Hunt made the announcement on November 1 that Galafold (migalastat) will be reimbursed through the LSDP for patients aged over 16 years, who have an amenable mutation.
The drug is a genetically targeted medicine and the first new therapy to be approved in Australia for treatment of the potentially life-threatening disease in over a decade.
It provides greater treatment choice for Fabry patients, reduces disease symptoms and dramatically improves quality of life, whilst also allowing patients to manage their own treatment at home without the need to have painful injections or infusions with enzyme replacement therapy.
Without subsidy, patients would pay hundreds of thousands of dollars for this treatment, putting them beyond the reach of most families.
It is expected that 35-50 per cent of diagnosed patients will be eligible for the new treatment.
Ms Macdonald has been granted ‘compassionate use’ of migalastat but is awaiting to hear if her daughter Cara Lawrence, who also suffers from Fabry disease, has been approved to take the drug.
Cara’s experience
“It was awful when I found out Cara had Fabry disease – I didn’t know I had it, nobody else in my family has it,” Ms Macdonald said.
“She had turned 12 and I had just turned 32 and the doctor had just sent her to have this rash tested – they did a biopsy on it because they couldn’t figure out what it was.
“I felt dreadful for having given it to her, Cara has never ever blamed me but I have always felt so guilty.
“When you see your child suffering, it breaks your heart.
“My family were all tested and none of them had it, we just got the short end of the stick.”
After a lifetime of being impacted by Fabry, Ms Lawrence recently underwent IVF and genetic testing to ensure a child of her own would not have the disease.
“Her and I had no choice because we didn’t know we had it but she knows she has it and she was not going to pass it on,” Ms Macdonald said.
“She always said to me that it started with me but it would end with her because she wouldn’t have a Fabry’s child.”
In the first round of IVF, only one out of 22 eggs did not have Fabry disease and the single egg used failed to implant after the embryo transfer. Her healthy daughter Luna, was born after the second round and is now four months old.
“She has a beautiful baby girl now and she’s such a pleasure to be around, such a happy baby,” Ms Macdonald said.
“Cara hasn’t needed treatment but after her pregnancy, she’s been having definite kidney problems so she has to get onto treatment as soon as possible.”
Related content: The invisible disease: Fibromyalgia sufferers speak out
Hard-hitting reality
“There’s no cure for it, which is a hard truth to hear,” she said.
“You can’t be told how long you’ve got.
“I try and ignore it because I just think that it is what it is and I’ll be here for as long as I’m allowed to.”
Ms Macdonald suffers from heart and kidney problems among other issues and symptoms.
“My body doesn’t sweat, only my head sweats so that makes it really difficult for temperature control,” she said.
“I’ve got arthritis in my feet so that slows me down as well.
“I get breathless and don’t have much energy.
“My skin hurts... and I bruise really badly.
“There’s so many things but everybody looks at you and says ‘you look so well’.”
The mother said the secret is to continue to smile and laugh every day.
“I’ve never spoken out about Fabry’s before – some of my friends know I’ve got it but they don’t really know what it means and that’s not their fault but… I don’t want them to look at me differently,” she said.
“I don’t want pity from people and I don’t want people feeling sorry for me.
“I don’t want that to change, I just want them to see me as they’ve always seen me.”