Jack’s resilience shines through every step: Rare Disease Day

Jack is a bright, determined three-and-a-half-year-old whose smile and spirit often arrive before his words do. To those who know him, Jack is a fighter, a leader and a little light guiding everyone around him forward, one hard-earned step at a time. His parents, Olivia and Matt, and loving grandmothers, Julie and Michelle, work hard together to raise Jack, but truly believe that he is the one teaching them to grow in unimaginable ways.

At seven months old, Jack suffered damage after a viral illness (COVID-19), causing him to lose his ability to sit, army crawl, roll and grasp objects, essentially leaving him in paralysis for several months before he miraculously recovered. His muscle tone was affected, and his body seemed to shut down in ways no one could explain. For months, Jack and his family cycled through neurology, genetics and paediatric teams at The Hospital for Sick Children (SickKids) and Holland Bloorview Rehabilitation Centre, searching for answers. Without a diagnosis, his parents did what they could to support his gross motor skill development through physiotherapy, occupational therapy and constant advocacy, all the while grappling with the fear of not knowing what Jack truly needed.  

Just as Jack began home daycare when Olivia returned to work, his care provider noticed concerning symptoms. Jack began shaking and growing increasingly lethargic. What followed was lifesaving. Jack fainted at daycare and was rushed to the hospital. That moment led to the discovery that Jack had initially suffered a metabolic stroke and now had suffered a second. 

At 23 months old, after immense advocacy and support from his medical team at SickKids and Health Canada, Jack was diagnosed with Pyruvate Dehydrogenase Complex Deficiency (PDCD), a rare metabolic condition that prevents the body from properly converting carbohydrates or sugar into energy. The condition is so rare that most children, particularly boys, do not survive infancy. By the time of his diagnosis, Jack was severely hypotonic and required a ventilator and a gastrostomy tube (G-tube). His brain and organs were not receiving the energy they needed to properly function. The diagnosis was both devastating and relieving, terrifying in its implications, but lifesaving in its timing. 

Treatment began immediately. Jack was placed on a strict ketogenic diet, carefully measured down to every gram of fat, protein and carbohydrate. He takes over 20 supplements daily, including thiamine, and undergoes regular monitoring to ensure his body remains in balance. It’s a complex and demanding routine, but it gave Jack a chance. It did make it difficult to find a new daycare provider that was comfortable with Jack’s medical needs, interviewing about 12 different providers. This stress was alleviated when they met Angela, who reassured them of her involvement and care, treating Jack as one of her own and becoming part of their family.  

Today, after a year on the ketogenic diet, Jack is walking with a walker, communicating and engaging with the world in his own determined way. His fine motor skills are strong, his personality shines, and although every movement requires immense effort, Jack shows up ready to try.  

Throughout his recovery, Grandview Kids has been a cornerstone of support for Jack and his family.  

Referred through SickKids after his initial metabolic stroke, Jack began receiving physiotherapy, occupational therapy and speech-language pathology services at Grandview Kids, even before his diagnosis. His therapists stood beside the family at their lowest points, helping Jack relearn how to sit, crawl, stand, walk and communicate. 

“Grandview Kids was there before we had answers. They saw us at our worst, and they helped carry us through.” – Olivia, Jack’s mom 

Jack’s therapists also guided the family through equipment needs like standers and orthotics, supported transitions with daycare and connected them to vital resources when the path forward felt impossible to navigate. More than providers, they became trusted partners, a second family walking alongside them. 

Life with a rare disease means living without certainty. Jack’s future remains unknown, but his family takes it one day at a time. They advocate fiercely, lean on their village, including grandparents, medical teams, daycare providers and Grandview Kids, but ultimately follow Jack’s lead. 

“Jack has changed all of our lives for the better,” Olivia says. “He’s teaching us patience, compassion and strength. He works ten times harder than anyone else just to take a single step. And he keeps going.”