- By Deanna Carpino (ANPDF), Tuesday October 15, 2024
Life has a way of surprising us when we least expect it. For one family, a pivotal moment came when their beloved son Greg was diagnosed with Niemann-Pick Type C (NPC) Disease at the age of 39. This rare and devastating genetic disorder drastically altered the course of their lives, but through the storm, they found something stronger than the challenges they faced—each other. The family had three children, two of whom were affected by NPC: Greg and his sister, who was also diagnosed at 39 in 2020.
A Diagnosis That Changed Everything
Greg’s journey began innocently, with small moments of forgetfulness. His family attributed his memory lapses to the hits he took during his rugby league days. But as these instances grew more frequent, concern deepened, and so began the long, arduous road to diagnosis. After seven months of tests (including a skin biopsy), setbacks, and endless waiting, their fears were confirmed—Greg had Niemann-Pick disease type C (NPC), a diagnosis that would forever change their lives.
“We noticed that Greg had difficulty remembering things and suspected that he had one too many knocks to the head when playing rugby league," recalls his mother, Maz.
As Greg’s mother reflects, her words carry the weight of love and sacrifice. She recalls those early days—how her heart ached with worry, how the paperwork and medical appointments seemed endless, and yet she pressed on, even as she faced her own battles. "During that time, I had gone through two bouts of cancer, a hip replacement, and chemotherapy. It left me with neuropathy in my hands and feet.”
Despite the diagnosis, Greg’s courage shone through. He continued working at The Star Casino, holding on to his independence for as long as he could. But by 2018, the disease’s cruel progression made it impossible for him to continue. His father, who had already retired, stepped in to care for Greg full-time, and by 2019, Maz too retired, dedicating every ounce of her energy to her son’s well-being.
A Daily Fight for Greg’s Quality of Life
Now in his late 40s, Greg’s battle with NPC has brought on symptoms of dementia, short-term memory loss, and ataxia, among other difficulties. Though unable to participate in drug trials, his family focused on making sure his life remained meaningful.
“We engaged a Support Coordinator, Occupational Therapist, Speech Pathologist and Support Workers who ensured that he was showered and got out into the community instead of being stuck in front of a TV all day,” his mother explains.
Healthcare providers have played a pivotal role in Greg’s care. From the initial diagnosis to ongoing support, the family’s interactions with doctors, neurologists, metabolic geneticists, and various therapists have been instrumental. The collaboration between healthcare professionals and the family has ensured that Greg receives comprehensive care tailored to his needs.
For Greg’s aging parents, caring for him has been an all-encompassing responsibility, one that challenges their strength each day. But despite their own limitations, they’ve navigated the complexities of the system, from NDIS to support coordinators, always with Greg’s best interests in mind. In July 2023, Greg moved into the Sunnyfield group home, and in May 2024, he transitioned to the Windgap group home closer to his parents, making it easier for the family to visit frequently. Each visit is a testament to their unwavering love.
A Future Reimagined
“When I retired, I envisaged going on holidays around Australia, joining a local sewing group and enjoying my passion for sewing and quilting, but this was not possible,” Greg’s mother reflects.
Retirement for Greg’s parents didn’t bring the adventures they had once envisioned. There were no trips around Australia or quiet afternoons spent pursuing hobbies. Instead, their lives revolved around Greg. Yet in their sacrifices, they found unexpected joy and purpose. Greg’s mother now uses her sewing skills to raise funds for the ANPDF and create dementia fidget mats for those in need.
A Community That Lifts Them Up
Through the toughest of times, Greg’s family found comfort in something they hadn’t anticipated—community. Connecting with other NPC families and meeting Professor Mark Walterfang in Melbourne opened doors to both knowledge and emotional support. The NPC Foundation became their lifeline, offering them solidarity and understanding. Now, Maz serves on the committee for the foundation, finding strength in helping others who walk the same path.
“What I do have is an incredible group of friends who are there to support me when needed,” she says.
“None of this is easy, but I have the most incredible friends and an NPC community that’s always there for me,” she says with gratitude. The monthly Zoom meetings have become a source of solace, a reminder that they are never alone in this fight.
Hope and Resilience: One Day at a Time
Though they cannot change Greg’s diagnosis, they can ensure his days are filled with care and love. Their hope lies in future treatments, not only for Greg but also for others like his sister, and for families just beginning their journeys with NPC. Maz knows that while the road is hard, they are making a difference—not just in Greg’s life, but in the lives of others facing similar battles.
“We can only be there for him and ensure he has everything he needs,” she says softly. “I am hopeful for the younger ones and the treatments available, but for us it is planning for the future and just taking it one day at a time.”
In the end, Greg’s story is not just one of struggle but of immense love, resilience, and the power of a family determined to stand together through it all. They continue to make a difference in Greg’s and his sister’s lives, as well as in the lives of others affected by NPC.