Desperate Steinbach family awaits provincial drug approval to slow young son’s fatal disease

Five-year-old Leo Dupont’s health deteriorates a little bit each day, and his family is pleading with the province to approve a drug he needs to slow his fatal disease.

Leo, who lives in Steinbach with his parents and two older siblings, was diagnosed with Niemann-Pick disease type C in June. It is a rare neurological disease — only one in 150,000 people are diagnosed with it annually.

The Mayo Clinic’s website says the genetic disease involves the body not having the protein it needs to process cholesterol properly. The resulting buildup of cholesterol in the body’s cells leads to cognitive problems, as well as difficulty walking, swallowing and hearing, and ultimately results in death, usually by age 13.

There are two drugs that can slow the disease’s progression — Miglustat and Miplyffa — to give families more precious time with their children, but they have to be approved by the provincial and federal governments.

Leo’s mom, Kayla Krentz Dupont, said the family has already been rejected for Miplyffa by Health Canada’s special access programs. They are hopeful the provincial government will approve their use of Miglustat through the exceptional drug status program because it is already approved in Canada. Miplyffa is not approved by Health Canada and is not authorized for sale here.

“He was diagnosed in June, and it is now November, and he is still without medication,” Krentz Dupont said Monday.

“It was a long road just to get a diagnosis — we did not anticipate we would have to go to the media to get this medication. The doctor applied for Miglustat in August, and we have heard nothing since Aug. 21.

“Since then, we have continued to see changes in him.”

Health Minister Uzoma Asagwara confirmed the province has received the request for coverage of Miglustat and is aware the family has also “expressed interest” in Miplyffa.

Asagwara, who said it is a “deeply emotional situation,” noted the drug is currently being reviewed by the province but didn’t indicate how long it would be before the family gets word on approval.

Krentz Dupont said she appreciates that Asagwara is talking about the drug needed, but, “I don’t hear any urgency here.”

The mom said she and her husband began getting concerned something was happening to their youngest son when Leo was two.

“We started to raise flags when he had a lot of abdominal extension; that’s when they found he had an enlarged liver and spleen,” she said.

“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.”

Krentz Dupont said her son is a happy child who went trick-or-treating in a Hulk costume Friday and dotes on his siblings.

“He is the biggest supporter of his brother and sister,” she said. “He is a sports enthusiast — he loves our Winnipeg Jets, and the Bombers and the Blue Jays. He has a really good sense of humour, and he is pretty clever with his tricks and jokes.”

While Leo has been attending kindergarten for only two months, “He adores school.”

Krentz Dupont is encouraging people who support her request to contact the health minister. She said 400 people had done so between noon and late afternoon Monday, when the family decided to go public with the issue.

kevin.rollason@freepress.mb.ca