Five-year-old with rare disease gets provincial approval for much needed drug

Steinbach’s Dupont family received some very good news on Tuesday when they learned that a much needed drug for their son’s rare illness was approved by the province.

Five-year-old Leo Dupont was diagnosed with Niemann-Pick disease type C in June. The rare neurological disease, which affects one in 150,000 people, results in the body’s lack of the protein it needs to process cholesterol properly. The buildup of cholesterol in the body’s cells leads to cognitive problems, as well as difficulty walking, swallowing, and hearing, ultimately leading to death, usually by age 13.

There are two drugs that can slow the disease’s progression, Miglustat and Miplyffa. Miglustat is approved by the federal government, but the Duponts had to get provincial approval for the drug through the exceptional drug status program. Miplyffa is not approved by Health Canada and is not authorized to be sold in the country.

“We’re thrilled. I think there’s a little bit of a situation of it being surreal right now. Cause it’s just been a real change of events in the last 48 hours,” said Kayla Krentz Dupont, Leo’s mother.

“We’re no longer facing this disease without medication and we’re now able to begin facing this disease and have some medication working with us and we haven’t had that. We haven’t had that for the last three-and-a-half years since he’s been showing symptoms and characteristics of this disease, and since the diagnosis at the end of June of this year. So, this changes things for us.”

Krentz Dupont and her husband began noticing something was wrong with Leo when he was two years old.

“We started to raise flags when he had a lot of abdominal extension; that’s when (we) found he had an enlarged liver and spleen,” she told the Winnipeg Free Press.

“The liver specialist diagnosed him as maybe not digesting sugar, or (irritable bowel syndrome), but it was when he turned four that he started having tremors, and that’s when we also noticed his gait had changed.”

The Duponts started lobbying different levels of government in mid-September and at that point they were asking for help with Miplyffa as they knew Miglustat was approved by Health Canada and they thought it would be easier to get Miglustat.

In mid-October, the Duponts checked the status of their Miglustat application with the province and realized that it had not progressed since mid-August. When they got no response, they went to the media to plead their case.

“Where it was a decision going to media wasn’t an easy decision but…we didn’t feel like we had more time to wait, right? That nothing had been changing for months, and it was, we felt the only way to make a change was to do something different. So, we made the decision to go to media, and was hoping that people would rally around us and see the urgency and the cause.”

Media attention garnered 1,700 emails that were sent to Minister of Health Uzoma Asagwara’s office within the first 24 hours of the family going public.

The cost for Miglustat is $8,500 a month which Krentz Dupont said will be covered largely by pharmacare. Krentz Dupont said Asagwara has sent a letter to federal Minister of Health Marjorie Michel to approve Miplyffa.

“That continues to be our goal is to also gain access to Miplyffa now that we gotten access to Miglustat,” said Krentz Dupont.

“We just extend so much gratitude to the community, to the people around us, to anyone who jumped on board sharing the emails, praying for us, and we also really are appreciative of Minister Asagwara and the work that has been done in the last 24 hours.”

-With files from the Winniepg Free Press