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A mother’s greatest hopes and fears – living life with a rare disease.

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Tarryn and her daughter Dia Mae.

 

By TARRYN HOLLAND

My name is Tarryn Holland. I’m 32 years old, have a lovely partner and a gorgeous 18-month-old daughter, Dia Mae. I work in early childhood education and am one of less than 30 people in Australia with rare and life threatening Pompe Disease.

I will never forget the day I was diagnosed. After 13 years of searching for what was wrong with me, with a lot of painful testing along the way, I finally had the answer.  My first feeling was relief: relief at finally knowing what was wrong.

But the relief soon turned to disbelief.  I had always thought that when I did find out what was wrong with me it would be treatable – after all, incurable diseases are the stuff of heart-break movies.

But even though nobody knows much about Pompe Disease, I can tell you about a few of its characteristics: it’s rare, it’s life-threatening, there’s no cure and the only treatment costs around $400,000 a year and unlike hundreds of other life-saving treatments, it is not funded by the government under the Pharmaceutical Benefits Scheme or the Life Saving Drugs Program, which was set up for these situations.  It’s particularly hard when I hear that treatment is funded by governments in around 50 other countries, but not in Australia.

So I face life as it comes. I can’t walk up stairs or for long distances. It’s hard to get out of chairs. I fall a fair bit, because my balance and strength is badly affected.

I’m an early childcare worker but I’ve had to move into administration and the centre because I can’t pick the kids up if they need a cuddle, but luckily I’m still able to keep in touch with my passion.

In 2011, our baby brought us so much delight but oh so many unexpected challenges. Through the joy, there was also a profound sense of sadness, fear, frustration and guilt. Sadness, frustration and guilt at the things I could not easily do with her, such as walk to the local shops for fear of yet another fall, but this time when I was holding her. I remember going to my first mother’s group and being nervous and embarrassed because I could not sit holding her, as the rest of the mothers were doing, as I need my arms to push myself back up again and did not know anyone well enough to ask them to hold her for me whilst I got back up. Instead, she was the only baby left in the pram for the entire meeting.

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baby feetBut no matter the challenges I view myself as one of the lucky ones. Firstly, in late 2011 I was granted treatment through a compassionate access program by the pharmaceutical company that makes myozyme, my enzyme replacement therapy. The benefits of this treatment have been amazing: the progression of my disease has completely halted and the strength in my arms has actually slightly increased. Secondly, in 2012 I met Catherine Jenner, another Pompe patient. Catherine is around my age, a mother of two and lives close by. When you are one of just a handful of people with a rare disease, to have someone close to you who understands what you are going through is life changing.  Together we are fighting for ourselves, and for the others like us.

My greatest fear is if the government does not start funding my treatment soon then it will be stopped. For me this means my disease progressing until I am in a wheelchair, on a respirator and eventually dead.

Governments spend lots of money on lots of deserving projects. I’ll leave it to others to consider whether I’m a deserving project, but I do believe my friend Catherine and the other families hit by Pompe Disease are deserving of a chance at a better and longer life.

Click onto our Facebook page and see whether you can help us petition the government to get the treatment funded. Who knows, with your help Catherine and I might be around to see our grandkids.

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