Celebrating 30 years of Fabry Australia with ‘30 Fabry Stories, from the Australian Fabry Community.’
Dianne Wallyn was diagnosed with Fabry in 2009. She volunteers her time to supporting Fabry Australia as a committee member.
“It helped me take the fear out of having an incurable disease and normalise it”
My sister had experienced significant health problems over many years and it took her eight years to get diagnosed. We’d never heard of Fabry back then.
Mum was tested after her diagnosis, but she was negative, so we knew it had to come from Dad. He’d suffered multiple health problems through his life and ultimately passed away in 1983. My sister also passed away last year due to complications from Fabry.
Prior to diagnosis I didn’t have a lot of symptoms. I would get shortness of breath and some gastrointestinal issues, but I’d never thought that it might be a serious life-threatening condition. It was frightening to hear I had an incurable disease. Someone put me in touch with Megan Fookes from this group helping Fabry patients, Fabry Australia. She helped to take the fear out of it and normalise the illness. I had so many questions and it was good to have someone to talk to who knew about Fabry.
I’m not on treatment as my husband and I travel full time so fortnightly infusions would be difficult. There is an oral treatment but unfortunately my genetic mutation isn’t suitable for this.
Being diagnosed means I’m cautious about exertion. I like bushwalking but I avoid mountains or long walks as it’s hard on my body as I get out of breath and my body doesn’t regulate its temperature very well, so I tend to overheat.
Fabry can affect all organs, so being diagnosed means I can now monitor the progression with various tests every 2 years. It gives me peace of mind to know my specialists are watching the progress.
I also have peace of mind knowing I have a Fabry community for moral support if I ever need it.