Only 30 Australians are diagnosed with this debilitating disease.

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.

Well, I wish it was as simple of that!

Treatment is only government funded in Australia for those diagnosed in infancy.  Those of us lucky enough to get onto the company’s compassionate access scheme rely on charity.

There are currently SIX Australians with no access to treatment at all – their lives will not only be cut short, but they are deteriorating as we speak.

They are faced with life changing decisions and choices for their futures. I can only imagine what it’s like for the parents of Christian, a 12 year old Melbourne boy who has no access to treatment.

It has become a second job to me and many APA members to beg the government to save our lives.  Some of our members have been fighting this battle for years.

From the view of a patient support group, our focus should be on supporting our members with the struggles that they are faced with in living with Pompe disease.

From a personal perspective, I should be spending time with and focusing on my family, putting all of my efforts into running a very successful family business and focusing on my health and wellbeing.

It is International Pompe Day on 15 April – a day of international support which is bitter sweet for Australians as we are one of the last countries to access treatment.

There are only 30 of us, so we’re asking the community to add their voices to our call for government action by joining our Thunderclap on Facebook or twitter and sending a message to Health Minister Peter Dutton.  Just visit this link. 

Catherine Jenner is a mother of two and runs Uncle John’s Licorice in Melbourne with her husband. Since her diagnosis with rare and life threatening Pompe Disease in 2012 she has become an active campaigner for access to treatment and support for the 30 Australians diagnosed with the condition as an executive team member of patient support group Australian Pompe’s Association.  Catherine has travelled to Canberra advocating and petitioning for government action and change for rare diseases treatment.

About International Pompe Day

15 April 2014 will be the inaugural International Pompe Day, established by the International Pompe Association to foster worldwide awareness of the rare condition.  This year’s theme is ‘Together we are strong,’ and the Australian Pompe’s Association is hoping that the whole international and Australian community will help make their voices strong and heard advocating for the Australian Government to fund treatment for Pompe disease.

Please lend your voice and join Australian Pompe’s Association’s thunderclap ahead of International Pompe Day – click here.

You can follow the Australian Pompe’s Association on Facebook and Twitter and @AustralianPompe.

For more information about the International Pompe Association and the international day visit World Pompe Day.