I am Catherine Jenner. I have always been a very active person in general and currently, together with my husband run a successful manufacturing business. We have two children aged seventeen and eight years and a suburban house that is in the midst of renovations.
I also have an extremely rare, debilitating and life threatening disease – so rare only 30 Australians are currently diagnosed with it!
Those who know me will remember a very normal girl growing up, who like many others was not very good at sport, a little slow at running and maybe a little clumsy, but again that was ‘normal’.
During my pregnancy with my son in 2004 things slowly began to change. I started to ‘waddle’ and had trouble going up a flight of stairs but thought this would pass after childbirth.
After the birth of my son in 2005, I struggled to pick him up from the ground and then by November, I struggled to get out of a chair. It was time to get help.
After many tests from Neurologists, I was misdiagnosed with another similar, rare disease – which had no treatment and I was told to prepare myself for the worst.
In 2012 my neurologist asked me to take a test for Pompe disease, a simple blood spot test. I googled it first, found out that there was treatment to halt the progression and then prayed like mad in hope that I had it.
It seems strange to pray to have a disease that break downs your muscles, puts you in a wheelchair, causes respiratory failure and cuts lives short. But I had hope.
I have it! Then I find out treatment costs somewhere between $300,000 and $500,000 depending on weight. Even at just 50kgs it was simply unaffordable to me and my family and even if we fundraised and sold our business and house, was simply unsustainable for the duration of my lifetime.
This is where the fight for my life started.
Right away, I contacted the Australian Pompe’s Association (APA). The APA applied on my behalf to get approved for the compassionate access scheme funded by the drug manufacturer.
I now have fortnightly infusions of an Enzyme Replacement Therapy (ERT), but I was one of the last three Australians approved and now the company’s scheme has closed.
ERT has given me a new life. Already after 18 months, I have increased my walk tests, have had improvement in lung function and have much fewer falls than before. Doctors had told me from the start I would be wheelchair bound by now and at the rate I was deteriorating prior to treatment I knew they were right. Treatment saved me and it is as simple as that.