In 2022, Rare Voices Australia (RVA) is celebrating 10 years of rare disease advocacy. RVA’s 10th Anniversary Ambassador Program (the Ambassador Program) is one of several initiatives we are unveiling in 2022 to celebrate 10 years of rare disease advocacy. The overarching theme of the Ambassador Program is, Illuminating People Living with a Rare Disease.
We are thrilled to welcome our first group of official 2022 RVA Ambassadors and thank them for being involved in this new initiative. Each ambassador brings their own unique lived experience of rare disease. We will be sharing more about our RVA Ambassadors over the course of 2022 so be sure to follow RVA’s social media channels and sign up to receive our monthly eNewsletter.
RVA is currently seeking expressions of interest from Aboriginal and Torres Strait Islander people and people from culturally and linguistically diverse (CALD) backgrounds who are interested in becoming a 2022 RVA Ambassador (see the ambassador requirements). Those interested are encouraged to reach out to RVA: firstname.lastname@example.org
Introducing our 2022 RVA Ambassadors
Frequent falls, extreme fatigue and pain led to Katie’s diagnosis of Dermatomyositis. The rare disease destroys skin, muscles, tendons and organs reducing strength, dexterity and mobility. It can present with cancer, cardiac and auto-immune conditions. Myositis is fatal when inflammation scars the heart (Cardiomyopathy) and lungs (Interstitial Lung Disease). Katie’s Myositis symptoms were untreated for nearly 40 years until advanced disease prevented her from climbing stairs and rising from chairs. By then her muscles were wasting, dying and shortening. Katie had problems chewing, swallowing and speaking. Significant hair loss, skin rashes, peeling, lumps and blood spots changed her appearance. The aggressive disease was resistant to pharmacological treatment (steroids, chemotherapy, immunotherapy) until a kinase (JAK) inhibitor was trialled in 2021. Katie is very grateful for this respite and now shares her experiences of rare disease, disability and family violence through advocacy roles with the National Disability Insurance Agency (NDIA), Safe Steps, Peter MacCallum Cancer Hospital, Monash University and RMIT University.
Andrew was born with three rare brain malformations – Periventricular Nodular Heterotopia (PVNH), Polymicrogyria and Cerebella Hypoplasia – as well as two other congenital malformations. His cerebellum is a quarter of the average size. These rare malformations have not stopped him achieving many things even though he has an intellectual and physical disability. Andrew’s determination to overcome the obstacles in his life inspires people, yet it is he who wants to help others by raising awareness about rare diseases. Among others, Andrew played a key role in the formation of the first Parliamentary Friends of People with Rare and Undiagnosed Diseases in Western Australia in 2021. Additionally, since 2020, Andrew has played a pivotal role in organising illuminations for Rare Disease Day in Australia.
Lachy was diagnosed with a rare disease called Juvenile Dermatomyositis (JDM) when he was three years old. JDM is a form of Myositis affecting children. Myositis is a group of rare autoimmune diseases affecting the muscles. Lachy has been active as a volunteer in raising awareness for people with rare diseases for the past 10 years. He is currently involved in a business start-up with his family and in his spare time, loves playing guitar, reading and playing chess.
Ebony is 24 years old, lives with Intestinal Failure and requires Home Parenteral Nutrition. For the first few years of her life, no one noticed anything unusual apart from severe reflux and moderate constipation. At 11 she became unwell with what was thought to be a simple gastro bug, but after a week or two, she wasn’t better and was admitted to hospital for investigation. At 17 she was eventually diagnosed with Superior Mesenteric Artery Syndrome (SMAS), a very rare and life-threatening digestive system disorder that occurs when the duodenum (the first part of the small intestine) is compressed between two arteries (the aorta and superior mesenteric artery). Ebony feels incredibly lucky to have been chosen to be an RVA Ambassador and looks forward to sharing more of her story and lived experience.
At three months of age, Nathan was diagnosed with Cystic Fibrosis (CF) and his parents were told he may not make it to his 10th birthday. Nathan’s resolve never faltered despite a future that was likely to be filled with challenges. His passion for rugby eventually saw him living out his childhood dream of playing for Australia in the Wallabies’ second test against France at the age of 25. Throughout his career and life, Nathan has been adamant not to be defined by CF and has never viewed his condition as an obstacle to success in any facet of life. Today, Nathan is the Chief Executive Officer of Rugby WA.
Tim was formally diagnosed with Adult-onset Still’s disease (Still’s disease) in 2016 at the age of 22. Still’s disease is a rare systemic, auto-inflammatory condition that affects between one in 100,000 to one in 1,000,000 people globally. In August 2020, to stay on top of his mental health, combat the effects of calcium leaching from medication and driven by his desire to encourage people, in particular the rare disease community, Tim set himself the goal of running 100km before Rare Disease Day — a big audacious goal given his health! He began the Instagram page Running Rare to document his progress and this has evolved to the development of an accompanying website to encourage and uplift the rare disease community. Tim is a big believer of living with a ‘it is possible’ attitude. This doesn’t mean you’re naive to the reality of your circumstances, but it does encourage and motivate you to think about what might make something possible — and that is such an important first step.
Tammie is the mother of two children and lives in regional Victoria. Her youngest is 5 years old next and was born and diagnosed in 2017 with Maple Syrup Urine Disease. Tammie says it’s been a very big learning journey but one in which her family has managed to find their feet and now are ready to have their voices heard on important issues such as inclusion, research, cures and anything else they can do to help. She is excited to see what we can achieve together. When Tammie is not busy working and with family life, she enjoys running.
In 2014, Beck noticed small micro changes in the way her body operated, which was noted in her medical files. On Christmas night in 2017, she fell down a flight of 11 stairs after losing her feet on the top step. This resulted in her spending the next 12 months with a crushed disc and surgery to replace the disc and rods in her back. In 2020, Beck noticed she was becoming highly fatigued, sleeping all day and her legs either felt like jelly or stiff as a board. After a blood test was sent to the United States of America for genetic testing, she was eventually diagnosed with Spinocerebellar ataxia type 36 (SCA36). Beck is looking forward to ‘illuminating’ the rare disease cohort in a more public manner and sharing her experiences as a para equestrian athlete.
Renae is 27 and is based in Brisbane, Queensland. She was born with a rare disease called Epidermolysis Bullosa (EB), which is a condition that causes fragile, blistering skin that also tears easily and scars. The gene fault that caused Renae’s EB is rare and is also responsible for her diagnoses of alopecia and dilated cardiomyopathy. Living with rare disease can feel isolating and can make life unpredictable, which is why Renae feels it’s important for those living with a rare disease to share their experiences. Renae’s hope is to empower people to share their stories, so that we are reminded that we’re not alone but are part of one brave community!