My story begins with a routine blood test in 2007 before travelling to London on a work trip. When the results came back, my haemoglobin level was about 65 grams per litre (g/L). A healthy male adult’s haemoglobin level is typically anywhere between 125-150 g/L.
Initially, my general practitioner (GP) diagnosed me with nutritional anaemia and prescribed iron tablets. After returning from London, I had another blood test, and my haemoglobin level was the same. I then had daily iron injections for three months to see if that would improve the situation. After three months, my haemoglobin level hadn’t improved, which triggered a series of blood tests. My GP wanted to check my body’s iron binding capacity and if I had an autoimmune disease. None of the results showed any abnormalities.
Eventually, my GP referred me to a haematologist who suggested a bone marrow biopsy to get to the bottom of the issue. Finally, after 14 months and an initial diagnosis of nutritional anaemia, I was diagnosed with paroxysmal nocturnal haemoglobinuria (PNH) disease and myelodysplastic syndromes (MDS). I was 24 by the time I was diagnosed correctly.
PNH is a rare blood disorder that impairs the production of blood cells. It can occur at any age but is usually diagnosed in young adulthood. MDS are a group of diverse bone marrow disorders in which the bone marrow does not produce enough healthy blood cells. While MDS is mainly diagnosed in older people, it can affect younger people too.
Living with PNH and MDS impacts my life in a few different ways, which have changed over the last 15 years. My immunity is very low, and my neutrophils count ranges between 0.1-0.3, which makes me susceptible to infections and infection induced haemolysis. Due to MDS, a large portion of my red blood cells are dysplastic, so my stamina levels fluctuate significantly. Unfortunately, there is no permanent cure for PNH and MDS unless I choose to have a bone marrow transplant. However, with the help of a monoclonal antibody, my PNH is controlled. There aren’t any specific medications for MDS, unless it matures to full blown leukaemia.
My travels are restricted as I need to go to the hospital to check my blood counts regularly and have infusions once every eight weeks. Prior to the monoclonal antibody, my infusion frequency was once every 14 days, which significantly impacted my life and ability to travel. I have regular blood infusions due to the MDS to maintain my haemoglobin level at around 90, so that I can complete everyday activities like working and enjoying time with my family and friends. Over the last three years, I’ve noticed that the need for blood transfusions has significantly increased. I’m now taking an average of about 18-20 packed cells in a year. This makes travelling overseas extremely tricky at times and when I get sick, it takes much longer for me to recover and for my blood levels to increase again.
I am extremely grateful for the medications I have access to in Australia and the quality of doctors who spend a significant amount of time researching rare diseases, especially in the field of haematology.
I believe a rare disease medical register would be helpful for me in emergencies. If my details were on a rare disease medical register and linked to my Medicare number, that would help to facilitate easy information sharing in case of an emergency. I think this would also help medical professionals to treat patients more effectively.
Joining Rare Voices Australia as a Director
I joined the RVA Board in 2019 after researching PNH and MDS support groups more broadly and landing on RVA’s website. At the time, the RVA Board was looking for a financial advisor. When I looked at RVA’s profile as the national peak body for Australians living with a rare disease, I didn’t think twice about applying. I felt this was a great opportunity to share my skillset with an organisation working on behalf of Australia’s rare disease community. A few months later, I was inducted to the RVA Board and am extremely grateful for the opportunity to be of service to the rare disease sector.
I am privileged to chair the Finance and Risk Committee, which is a subcommittee of the RVA Board. I support the RVA Board in complying with the Australian Charities and Not-for-profits Commission’s (ACNC) requirements, the goods and services tax (GST) and other relevant tax compliances. Additionally, I assist RVA’s other Directors with providing a medium to long-term outlook for RVA’s financial position based on existing and upcoming projects. I also engage with RVA’s management team on a regular basis to review month-end accounts, prepare annual budgets and year-end financial reports.
Vishy is an RVA Director