"Smart thinker: Creating community while in search of a cure" - By Elli Jacobs (MiNDFOOD), Sunday March 17, 2022. Read the full article here.
The article from MiNDFOOD, titled "In Search of a Cure," tells the heart-wrenching story of Mandy Whitechurch and her two sons, who were diagnosed with Niemann-Pick Type C disease (NPC), a rare and fatal genetic disorder. The narrative unfolds with Whitechurch's journey as she navigates the challenges of her sons' condition, from the initial symptoms and misdiagnoses to the eventual discovery of NPC through the help of neurologist Professor Elsdon Storey and neuropsychiatrist Professor Mark Walterfang.
The article highlights the lack of a cure for NPC and the limited relief available through the FDA-approved drug miglustat, which only stabilizes certain symptoms. Despite the grim prognosis and a 10-year life expectancy for her sons, Whitechurch refuses to give up hope. She channels her despair into action by founding the Australian NPC Disease Foundation to support affected families and fund research.
“The doctors handed me a 10-year life expectancy for both my sons and told me to go home and make memories, which left me feeling distraught,” says Whitechurch. “I decided I wasn’t going to take the diagnosis sitting down. I wanted to fight for my boys’ lives, to give them extra time with me, to give them hope.”
Her efforts lead to significant advancements, including the introduction of a promising treatment trial in Melbourne hospitals with a spinal infusion drug called VTS-270, which showed improvement in cognitive and motor symptoms in other countries. Whitechurch's story is one of resilience and determination, as she fights for her sons' lives and works tirelessly to create a community of support and hope for those affected by NPC.
To help families like Mandy's around Australia, as well as fund vital research for a cure, support the Australian NPC Disease Foundation in its goals of "Research. Cure. Persevere."
Ways to support NP-C in Australia:
Join us at our Annual Charity Gala in Melbourne
Shop at our online NPC store
Fundraise your way! Check our free resources and inspo online