Dialog Box

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FAIR FOR RARE: Stephen’S STORY

Like many of the few hundred Erdheim-Chester disease or ECD cases globally I was diagnosed in 2009 by accident, when investigations were made as a result of a torn knee cartilage. Thankfully the progression was slow but after six years I had to start a Dabrafenib / Mekinest chemotherapy combination to shut down the faulty gene.

 

 In spite of helpful Australian specialists my lifesaver was volunteering as part of the first and largest ECD study at the National Institutes for Health in Bethesda USA. They have guided me on appropriate drugs, hormone treatments and physiotherapy. My Australian oncologist has also been lucky in obtaining the drugs on compassionate grounds. Otherwise I would have to pay AUD$12,000 per month, as the PBS does not currently cover these medications. What happens to me if the pharmaceutical company stops supporting me? I worry constantly about the future. Living with a rare disease there is often not an available treatment or cure, making the future uncertain and dependent on a medical breakthrough. Even where a rare disease treatment exists, they are often excessively expensive to the ordinary Australian and there is no certainty the Government will fund them

 

Currently I am still working full time, but I am not my old active self. My mood has been affected by pituitary damage. Which in turn has badly affected my relationship with my sons. Since being diagnosis my quality of life has declined

 

What is important to ECD patients like myself is that we have access to the optimal hormone treatment and medical professionals have an understanding of the complexities of rare diseases. Closer connections need to be made with the 10 or so ECD patients in Australia, but unfortunately we have such a diverse range of symptoms, meaning it is hard to exchange relevant experiences