B.C. family describes challenges with son who lives with extremely rare disorders

Click to play video: 'B.C. family shares experience with rare disease to spread awareness'
B.C. family shares experience with rare disease to spread awareness
Rare diseases affect one in every 25 children born in British Columbia. Two year old Easton from Vancouver Island is one of those little boys. On the back of Rare Disease Awareness Day earlier this week, his family spoke with Cassidy Mosconi. Hoping their experience can help another family in need. – Mar 3, 2024

A family on Vancouver Island is sharing their story after their lives were changed forever when their youngest son suddenly started experiencing seizures.

Mackenzie and Devon Jonson said their two-year-old son Easton suddenly started having seizures, losing mobility, and losing the ability to communicate last summer.

The family spent the next three months commuting to the hospital and their home, back and forth. They spent time at Victoria General Hospital, then went on to get treatment at BC Children’s Hospital.

Easton was diagnosed with a variant of SCN2A. According to doctors, Easton is the only person known in the world to have it.

“I remember the day that we were in the hospital and I was so excited to hear the results with them because they’re going to give us a plan,” Mackenzie said, Easton’s mother. “When you’re diagnosed with a rare disease — there is no plan, everybody’s different.”

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He is also diagnosed with a TBCD disorder, which is a severe progressive genetic neurological condition.

The family said doctors have told them most children who have these conditions do not see their fifth birthday.

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A team of doctors and health professionals began running tests and trialing medications, trying to figure out how best to treat Easton and mitigate his conditions.

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The family said it was the change to a medical ketogenic diet that has garnered the best results so far.

“In October 2023, we began the medical keto diet with BC Children’s Hospital and we have seen remarkable changes,” Mackenzie said. “Seizure reduction, clarity and mobility have gone from a paralyzed state to almost running. He has regained the ability to say a few words and his eye contact, and cognitive performance are quite remarkable. We still spend quite a lot of time in the hospital but we are now prepared.”

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The family said they created a cooler backpack that allowed them to essentially travel with a refrigerator, which became a huge tool for them to help with Easton’s diet. They said his keto diet reduced his seizures by upwards of 90 per cent.

The Jonsons’ dream is to have the bags rolled out to hospitals across North America.

Patient advocates calling for policy-makers to listen to families like the Jonson’s with lived experience.

“Some of the greatest innovations come from families, in terms of new ideas new concepts, that (provide) a better quality of life in terms of support,” said Rae Martens, a rare disease patient advocate. “Rare conditions are literally everywhere. They affect 2.25 million Canadians.”

The Jonson’s backpack can be purchased online.

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