Joshua: Identifying A Rare Disease Makes Team Joshua The Winner


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.
It was a traumatic and arduous search, Michelle recalls, “It was awful. The unknown is the most difficult thing to deal with.” In an effort to find a diagnosis Michelle and Joshua even went to see a specialist at The Hospital for Sick Children, also known as SickKids, in Toronto. Joshua was about two years old at the time, and the doctors had discovered a problem with his cerebellum. “The specialist told me, ‘we don’t know what this is, you have to be prepared, this could be progressive, I’ve seen it go both ways and he may not make it to adulthood. So look out for regression.’”
“The unknown is the most difficult thing to deal with.”
Michelle
“The fear that was struck into my heart as a mother, I cannot tell you,” Michelle said. “I lived with that for probably three to four years.” It wasn’t until Josh was nearly eight that she was told her son had not regressed, so clinically they were getting closer to ruling out a progressive illness. However, in January 2006, when Josh was five, Michelle received a letter stating his illness might be progressive after all. “This set me right back,” she said.
Then, when Josh was 14 he was enrolled in the TIDEX genomics study at 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 and CIHR, MSFHR and Genome BC. Using state-of-the-art genomic sequencing, the principal investigator Dr. Clara Van Karnebeek, determined that Joshua has a TUBB4 deficiency – a genetic anomaly so rare there are less than 100 known cases worldwide.

Through TIDEX, Michelle learned that the TUBB4 genetic mutation occurred in the first week to 10 days of gestation, but wasn’t passed on by either parent. The diagnosis has proven life –changing in so many ways. “To meet Dr. Clara and the TIDEX team changed everything,” she said. “Now we have a known track to run on.”
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TUBB4 gene mutations have been found to underlie decreased white matter (‘hypomyelination’) with atrophy of particular brain structures responsible for movement and coordination, the basal ganglia and cerebellum. The acronym is H-ABC syndrome, and indeed fits with Josh’ symptoms. Although Josh is cognizant, his brain doesn’t communicate properly with his body, so he needs help with even the most basic daily tasks, he is wheelchair bound and non-verbal.
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“The diagnosis told us that Joshua is not cognitively impaired. He has a neuromotor deficit. I knew Josh is a very bright child and that he’s capable doing a great deal.”
Michelle
Notably, the single most important part of having the diagnosis was the educational doors it opened for Joshua. “When you have a child that’s non-verbal, your child is automatically considered cognitively impaired,” Michelle said. “The diagnosis told us that Joshua is not cognitively impaired. He has a neuromotor deficit,” she said. “I knew Josh is a very bright child and that he’s capable doing a great deal.”

Joshua, now fifteen, is in a school he likes, in grade nine and, remarkably, learning to read for the first time. “He’s in all the typical classes and being integrated,” Michelle said. “This changes the trajectory of his life in unspeakable ways.”

Although it’s still early days, and there’s a lot to learn, Michelle points out that they are now connected to a group of patients around the world. Also the genomic diagnosis allowed for the team at BC Children’s Hospital to start a treatment trial to improve the muscle stiffness and coordination issues, “We know, for example, that there are Parkinson’s medications that can help with muscle coordination. So that improves his quality of life.”
Josh also loves sports, and he runs marathons and skiis. This started early on, when Michelle began running as a way to keep herself healthy. In 2008, “Team Joshua” was born. They started running half marathons and marathons. “It has become a mission,” she said. The community helped them raise money for a racing wheelchair and they were able to run the Toronto marathon together. They also became the first mother and child wheelchair team to qualify for the Boston marathon. To keep active in the winter, Michelle, an ardent skier herself, became a certified disabled ski instructor so she could ski with her son. “It’s something we can do with able bodied friends,” she said. They have received grants from Canucks for Kids and Variety Club to help with the equipment. “We just got out there and did everything that we could,” Michelle said.

“My goal as a mother has always been to make Josh as independent as possible, and the possibilities have opened up significantly for him as a result of this diagnosis. He could work - he could be a productive member of society, rather than being a drain on the system.”
The diagnosis has also given Joshua confidence. “He’s a teenager now and he’s a rascal,” Michelle said. “He’s learning about himself for the first time, he’s in his power chair and going to classes with his peers. He wants to hang out with his friends.” Recently, Josh wrote a speech using a communication App. “This is all because we have a diagnosis that shows he’s not cognitively impaired,” Michelle said. So he is now expected to learn and step up.”

Learn more about Team Joshua, via this link.
“My goal as a mother has always been to make Josh as independent as possible, and the possibilities have opened up significantly for him as a result of this diagnosis. He could work - he could be a productive member of society, rather than being a drain on the system.”
Michelle

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TIDE BC / Biochemical Diseases Clinic
BC Children's Hospital
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4480 Oak Street
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