On 28 February, the world observes Rare Disease Day – an opportunity to raise awareness and generate change for the 300 million people worldwide living with a rare disease, their families, and carers.
While these diseases are rare, many of us will know someone directly affected by one of these conditions, whether it impacts themselves or their loved ones. We know there are people throughout our Programmed community who are dealing, or have dealt, with the impact of these conditions.
On this day, Facility Management’s Andrew Taylor is taking a brave step forward to raise awareness for his young daughter, recently diagnosed with the extremely rare genetic disease Infantile Neuroaxonal Dystrophy (INAD) at just 2 years old.
INAD is a devastating paediatric neurological disease that affects the nervous system, leading to the gradual loss of motor skills, vision, cognitive function, and the ability to swallow. Sadly, there is currently no cure for the disease, with the life expectancy of children with INAD just 5 - 10 years.
Mila was born a healthy, happy little girl, with her proud parents so excited for what her future held. After a long diagnostic journey and the shattering confirmation of Mila’s condition, Andrew and his family have stepped up to raise awareness and funds, desperately fighting for a future for Mila and kids just like her.
Fighting for a future for Mila
Andrew and his family are currently raising funds to both support their daughter and to support the limited research on INAD currently underway in the UK and USA. Particularly, there’s a focus on the research trials being done through INADCure Foundation to develop gene therapy treatment for INAD. You can view their GoFundMe page and donate via the link below.
Andrew’s admirable efforts to raise awareness and funds in response to this heartbreaking news means that kids across the world afflicted with INAD may make an extra step towards their own futures.
Taking action in memory of Tyson
Rare disease is a phenomenon that has touched many in our Programmed community. Tyson Stanley, son of Programmed Operations Manager, Dan Petrovic and Talia Wilson, bravely battled a rare strain of Fibrodysplasia Ossificans Progressiva (FOP), one of the rarest and most disabling genetic conditions known to medicine. It occurs when bone forms in muscles, tendons, ligaments, and other connective tissues, affecting roughly only 1,000 people globally.
Tyson was an inspirational young man, having worked hard at raising awareness of FOP, changing society’s perception of physical disability, and fundraising for future generations so that others may not have to go through what he experienced.
Sadly, Tyson’s journey with FOP has come to an end, and his family laid him to rest in 2024. His family continue to advocate for the FOP community so that future families will get the support they need.
Globally, fundamental issues remain around raising awareness of FOP among healthcare professionals, identifying individuals with FOP, reducing time to diagnosis, and ensuring access to best practices in care, support, and clinical research.
In a promising development, FOP patients have recently had the first ever drug for their condition approved for use in Australia, which has been recommended for inclusion on the PBS. FOP Australia is currently helping with the work required for the paperwork to be processed, demonstrating the tangible impact that your support and donations can have.
You can help to support the continuing work of Tyson and his family by donating to FOP Australia, which helps to support others affected by FOP and the fight to find a cure.
As we pull together and support Andrew and his family through their incredibly difficult journey, our heart goes out to everyone in our Programmed community and their families impacted by a rare disease.
Our EAP is here to help
Remember that Programmed’s Employee Assistance Program (EAP) is always available to support you, and your immediate family should you be facing difficult circumstances. The EAP provides confidential counselling and support services conducted by qualified and experienced professionals by phone, live chat, video conferencing or face to face across Australia and New Zealand. Click below for more information.
