Mason was just 2 months old when he was put on anti-seizure medication. It quickly became evident that he was unresponsive to the medication and only responded to the vitamin B-6 (pyridoxine) and folinic acid therapy. However, once diagnosed with pyridoxine dependent epilepsy (PDE), a metabolic form of epilepsy, Mason began treatment which changed the course of both his life and his mother’s.

Without realizing it, Mason has helped lead the way for other children suffering from the same inborn error of metabolism. His treatment -a lysine restricted diet- is a medical therapy pioneered though TIDE-BC. Mason was among the first patients with PDE worldwide to be successfully treated by by this medical diet in conjunction with vitamin B6, a therapy which has been developed and studied by the TIDE-BC team in collaboration with German neurologists.

While it’s true that having a child will change your life in ways you cannot possibly imagine, for Krystal Shipley this saying was to have a very special meaning. Her now 3-year old son, Azyac, is thought to be the only person alive with a rare genetic condition called RMND1 deficiency, which causes a type of fatal mitochondrial disease.

Diagnosed by the physicians at BC Children’s TIDE-BC program when he was two years old – Ayzac is also helping move medical science forward. “He’s my hero,” Krystal said.

Eight-year old Luke belongs to a very select group of children. Diagnosed at the age of 5 with alpha-mannosidosis—possibly one of the rarest genetic diseases in the world— he received the only available treatment just five months later. The decision to have their child undergo an invasive and risky bone marrow transplant (BMT), without hard scientific evidence for success in alpha-mannosidosis, was one of the toughest decisions Robin and Kevin Chaplin have ever made. But it turned out to be a great one because today, 2.5 years after his BMT, Luke, followed by the TIDE team on a regular basis, continues to improve intellectually and physically.

Alpha-mannosidosis is an extremely rare, inherited lysosomal storage disorder, characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual disability. It affects approximately 1 in 500,000 children. Finding information on the disease is a daunting task for parents, as Robin and Kevin Chaplin can testify. But having the diagnosis established in Luke proved equally challenging, precisely because it is such a rare disease.

Logan is an 18-year old who loves to play hockey, swim with dolphins and take the occasional spin around Orlando’s Nascar Speedway. As part of his recent graduation ceremonies he participated in a seven day hiking trip in the Rocky Mountains, in a trail rider with his classmates and father close by. The fact that Logan has a degenerative neurologic disease which severely restricts his independent mobility does not stop him. As his father says, “We just adapt and find a way to make it happen.”

Logan has a rare disease – which for the past 14 years has remained undiagnosed. Now, through his participation in TIDEX, researchers at TIDE believe they may be close to a diagnosis. In fact, the decision to enroll Logan in TIDEX has brought the family the closest they’ve been to understanding their son’s disease in 14 years, when it first became apparent that Logan was not developing at the same pace as his peers.

When Nolin was just three years old he became the first person in the world to be diagnosed with NANS deficiency, a genetic disorder that causes severe neonatal epilepsy, bone abnormalities, and developmental arrest. The problem lies in the body’s inability to make enough sialic acid, a sugar which provides building blocks for many processes in the body.

The diagnosis, made by the clinician-researchers at the Treatable Intellectual Disability Endeavour in British Columbia (TIDE-BC), a 5-year program at CFRI and BC Children’s Hospital, had a profound effect not only on Nolin’s access to care but also in providing support for his parents, Darlene and Frank.

When Jake was just eight months old he crawled off the blanket where his mother, Tanja, had put him and began rubbing his forehead on the carpet. He continued to rub his forehead even when it became raw and bloody. This was when Tanja first suspected something was wrong with her son. The self-injuring behaviour worsened so severely that by the age of seven years Jake went to live in a specially designed care home: he was self-injuring thousands of times a day.

Although Jake had been diagnosed with Autism at the age of eighteen months, his parents questioned the diagnosis - they didn’t see that type of behaviour in other autistic children. So they continued to search for answers. Their diagnostic odyssey would last over sixteen years, until clinician-researchers, using state-of-the-art genomic sequencing provided by the Treatable Intellectual Disability Endeavour in British Columbia (TIDE-BC), a 5-year program at CFRI and BC Children’s Hospital, funded by BC Children’s Hospital Foundation, determined that Jake has an extremely rare PAK3 genetic mutation.

Despite being born 10 days overdue, Joshua was a happy, healthy baby who appeared to be perfectly normal. He passed all the milestones until it came time to sit up. Unable to balance and hold himself upright, his mother, Michelle, became concerned and took him to their family doctor, who told them not to worry.

But the months passed and Josh just couldn’t sit up, so before he was one year old Michelle went to see a pediatrician who, despite stating nothing appeared to be wrong with her son, told her to self-refer to the infant development program and work with a physiotherapist. This was followed by a visit to a neurologist who did a CT scan. And so began their more than decade-long search for a diagnosis.