Read Andrew’s story, written by Andrew and his mum, Anne.
Andrew was formally diagnosed with a complex cortical brain malformation when he was 17 called periventricular nodular heterotopia (PVNH) with overlaying polymicrogyria (posterior subtype) and cerebellar hypoplasia. It is a mouthful to say but after so many years, it was a relief to have a formal diagnosis. He was also born with two other malformations, one being club feet.
PVNH means there are nodules of neurons in the wrong place around the ventricles as the neurons did not migrate correctly. Polymicrogyria means many small folds – Andrew has more brain folds than what is normal. His cerebellum is a quarter of the size of a normal cerebellum, and this affects his speech, balance and movement. Andrew is extremely fortunate that he has no health issues and that he has had no seizures. The occurrence of epilepsy for people who have PVNH and/or polymicrogyria is very high.
Andrew did not walk until he was three and a half and did not speak until he was six and a half. When you have a child who has no known syndrome it is very hard. There is no support group – it is just the child and the family working at every issue that arises, hoping that what they are doing is the best thing for their child. We made the decision to give Andrew as much help as possible to ensure he reached his full potential. By the time he was 15, he’d already had 20 operations. His life growing up was constant doctor and therapy appointments, hospital visits as well as many other appointments with various health and education professionals.
It wasn’t until another appointment with a geneticist when Andrew was 15 that he was referred for another MRI. The results for this MRI were sent to a neurologist in Melbourne, and the neurologist finally gave us a formal diagnosis. There are a small number of people in Australia who have similar brain changes and with club feet but there is no one exactly like Andrew.
Andrew started playing sport at about seven-years-old. He enjoyed Little Athletics and Cross Country and competed at many Australian junior and senior championships. He has always been interested in cycling, so we purchased a folding trike, and Andrew rode it constantly but as he grew taller it became too small. It was also unsuitable to ride at high speed. We looked for alternatives and eventually, in January 2014, we managed to borrow an old racing trike. Andrew loved it and we applied for a grant and in November 2014, Andrew’s racing trike finally arrived.
Andrew has won many Australian paracycling titles for his classification (T2) since 2015. He was awarded a West Australian Institute of Sport cycling training agreement and was asked to apply for the Australian Paracycling team. It is very competitive to secure a position, and Andrew was not chosen for the World Road Paracycling Championships, but he was very proud to be asked to apply for the team. Andrew loves cycling and thinks nothing of going on a 100km ride. Sport has been the best thing for Andrew and by the time 2025 ends, it will be his biggest cycling year yet.
Andrew works part-time and volunteers at the Perth Children’s Hospital, which he loves. He is also an ambassador for the Rare Care Centre at Perth Children’s Hospital. Andrew enjoys giving back to the community and in 2024, completed a Certificate III in Allied Health Assistance at TAFE.
In August 2019, for PVNH Day, Andrew organised for six landmarks and buildings in Australia and around the world to be illuminated. He got the idea from the Canadian lady who runs PVNH Awareness Day – she had organised a local landmark to light up in 2018, so Andrew decided to help in 2019.
Rare Disease Day
Alongside a small group of volunteers, Andrew continues to lead the landmark illumination efforts in Australia for Rare Disease Day. Landmark illuminations are part of the global Rare Disease Day campaign, and Andrew presented at a webinar held by EURORDIS-Rare Diseases Europe to share his learnings in 2020.
In late 2023 while on holiday in South America, Andrew took the Rare Disease Day banner he designed with a friend to the End of the World Sign in Ushuaia in Argentina where the above photo was taken. He also visited the first Latin America Centre dedicated to rare disease in Brazil called Casa Dos Raros (House of Rare).
