FAIR FOR RARE: Doug’s Story
Part One: the diagnosis told by Deb (Doug’s mum)
Most children with Duchenne muscular dystrophy are diagnosed around three years of age, with the disease affecting 1 in 5,000 people in the developed world.
This is Doug’s diagnosis story. At the age of six Doug was now in school and while taking part in his school’s physical education program, he was asked to run a non-stop lap of the school oval. After completing the track, he became very weak for many hours afterwards. We could see that something was seriously wrong.
After a referral to a paediatrician, Doug’s CPK (muscle debris) was tested. Most levels sit at around 22 but Doug's was around 30,000! We were asked if we could stay on two more days in hospital, as the surgeon wanted to take a biopsy of his thigh.
Doug's paediatrician who assisted with the biopsy, informed me when the procedure was finished that the test results would be mailed out in six weeks. Not waiting for the results to be delivered he told me then that the necrosis was too severe to be anything but Duchenne, the most severe kind of muscular dystrophy. He began to apologise saying "I'm so very sorry," He must have felt that was inadequate because he repeated it over and over again. The kind doctor knew what lay ahead, was going to be challenging. Numb, I cast around for something to say that might comfort the doctor! We are all paradoxes, but those surreal moments surrounding the diagnosis of a rare disease are always are so clearly remembered by every parent.
Part Two: living with a rare disease told by Doug
Daily life with a rare disease is slow going at 29. With limited strength, one relies on others for assistance or uses strategies to help yourself. Using a laptop trackpad might be doable but I have to rely on someone to turn the power button on. I am reliant on a carer for intimate personal care and there is a high social cost for the available care you can afford.
Using a ventilator day and night, eating and risking viruses, infections and injury; requires constant planning due to extreme and prolonged weakness associated with degenerative disorders. Living in a goldfish bowl and being so dependent through the night as well as daytime, is hard on family and carers who often lack sleep and respite.
There are improvements that need to be made within the rare disease space in Australia, such as the lack of focus on the patient globally, means that experimental treatments are usually optimistic and expensive. Less emphasis is given to a meaningful outcome by stakeholders in all domains - medical and social.
Housing is also very hard to find for people living with disabilities. Services, equipment, insurances etc are highly priced and have rarely represented value for money. So many living expenses are not covered by the NDIS like rent, medications etc; yet the NDIS does not focus on employment and small business opportunities for PWD (People with Disabilities) so that they can cover the costs of living independently.
Society needs to see us as potential employees capable of contributing, with support. By employing PWD in areas of policy, administrative and rank and file activities, the attitudes to PWD and PWRD (People with Recovery and Disabilities) will begin to be improved.