Fabry Australia’s Management Committee Chair; Sheridan Campbell shared her lived experience of Fabry Disease with Riverine Herald.
WHEN Echuca’s Sheridan Campbell was diagnosed with the potentially fatal Fabry disease as a teenager, her future seemed grim.
She had seen her father battle the rare genetic condition for years before it killed him at the age of 61.
Thankfully, life expectancy of sufferers has increased thanks to improvements in technology and treatment and Fabry is no longer considered a death sentence for everyone.
On November 1, Australians with Fabry disease received free access to a next-generation medication that usually costs hundreds of thousands of dollars a year.
Wonderful news not only for Sheridan, but for two of her three sons who also have the rare condition.
People with Fabry are missing, or do not have enough of, a specific enzyme 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.
Symptoms include severe pain, skin rashes, headaches, fatigue, fever, vomiting and diarrhoea and an inability to sweat.
Sheridan, 42, and her sons are among 300 Australians diagnosed with Fabry disease, but experts say milder cases are undiagnosed.
‘‘It was heartbreaking when the boys were diagnosed,’’ Sheridan said.
‘‘As a mother, you want to protect your children from harm, so it was hard to come to terms with the fact their lives would be more difficult.
‘‘However, their outlook is much better than my Dad’s ever was. They will learn to live with it and manage it.’’
Sheridan’s father had spent his whole life experiencing symptoms, but it wasn’t until he was in his 40s and his kidneys began failing that he was diagnosed.
At the time Sheridan was just a teenager and, soon after, she and several of her family members were tested and diagnosed.
‘‘At the time I had no idea what impact it would have on us,’’ she said.
Sheridan’s father went through several interventions including a kidney transplant and was in the first trials of the enzyme replacement therapy (ERT).
Unfortunately, his organs were severely damaged and while the trial therapy was helping, he died.
Initially, Sheridan was told females are only the carriers of Fabry disease.
However, after undertaking further research, she found out this wasn’t the case at all.
While the symptoms of Fabry disease are more severe in the males of her family, the females experience fatigue and pain but manage it relatively well.
‘‘I experience fatigue and burning pain in my hands and feet,’’ she said.
While Sheridan and her family members (apart from her aunt) are not receiving treatment, their doctors are monitoring them very closely.
‘‘Because treatment is expensive, they have to wait for a level of deterioration to be eligible for treatment,’’ she said.
However, Sheridan holds the most concern for her sons, Declan, 11, and Alec, 6, who were diagnosed as newborns.
Over the past few years, Declan has begun to show symptoms including hand and feet pain and gastrointestinal issues which sometimes force him to miss school.
Still, Sheridan holds hope as research uncovers more treatment options that may be suitable and less invasive for her sons.
The news that the drug Galafold was this month added to the Federal Government’s Life Saving Drugs Program for the treatment of Fabry disease was a ‘‘God-send’’, Sheridan said.
Until now, the current standard of care for most patients has been through fortnightly infusions of ERT.
Galafold is an oral medication that can be taken at home every second day and works by attaching to the mutant enzyme and stabilising it and partially restoring its function, allowing it to move to areas of the cell where it can breakdown the fatty build up.
‘‘It won’t be suitable for everyone and it probably won’t suit me but maybe it could treat my boys in the future,’’ Sheridan said.
Chair of Fabry Australia management committee for about five years, Sheridan said it was about giving patients a choice.
‘‘It’s just another tool in the tool kit and something to reach for in the cupboard,’’ she said.
‘‘I feel privileged for such a rare disease that we actually have options available for us.’’
Fabry Australia acts a support and advocacy group for patients and provides information and awareness to the broader public.
Initially, Sheridan became involved through what she thinks was the very first patient meeting as an 18-year-old, before the organisation became officially formed.
Now, it’s a priority as she believes it’s important to help others with the skills you have.
‘‘I am incredibly grateful for the active research going on in Australia, with patients gaining first access to many trials,’’ she said.
This story was originally published via RIVERINE HERALD on Nov 16 2018.