Stephanie Mose says despite countless doctors saying otherwise, she knew her son Mark wasn’t “normal.”
Mark and his brother Ben are twins. But at 10 days old Mark was taken to Sick Kids hospital in Toronto but his mother says all test results failed to find anything irregular.
“It was the story of his life for the first four years,” said Stephanie. “Every single test, every single talk the doctors had with him, (all) came back negative or normal.”
At four-and-a-half-months old, a Code Blue was ordered for Mark — issued for emergencies such as cardiac arrest.
At age 5, the Ennismore, Ont., boy finally received a formal diagnosis after “countless” medical tests and “many’ misdiagnoses, said Stephanie. Ennismore is a community just north of Peterborough.
Mark has a genetic condition known as infantile hypotonia with psychomotor retardation and characteristic facies one — or IHPRF1.
“They showed us a video and it was exactly like Mark acted. I was blown away,” said Stephanie. “It’s so rare they don’t have a name, but they join all the symptoms.”
Doctors informed the family IHPRF1 is a severe autosomal recessive neurologic disorder that begins at birth or in early infancy. Individuals display poor — if any — normal cognitive development and most don’t learn to walk or sit.
Stephanie and her husband Shawn says doctors told her there are “less than 100” record cases of IHPRF1 worldwide.
“So when we say rare, they actually call it ‘ultra rare,'” she said.
In January 2022 he was admitted again to Sick Kids and Stephanie says he wasn’t expected to return home. However, he returned home in April as an “Easter Miracle.”
“I find we notice it (disorder) the most when we are in hospital because we’re like, ‘This is his condition,’ and every doctor literally goes, ‘I don’t know’,” said Stephanie.
Mark’s bedroom is filled with an array of medical equipment including ventilators.
“We brought the hospital home with us,” said Stephanie. “It was very overwhelming at first.”
That’s where local community group Ennismore Cares stepped in. This month they launched a fundraiser to support the Mose family which includes the now six-year-old Mark and his siblings Ben, Chelsey, 9, and Evan, 8. To date, $16,000 of a $20,000 goal was raised in just one week.
The funds were enough to purchase a hospital bed and a lift system to make the home more accessible, said chairperson Marcy D’Alessandro.
“It is incredibly heartwarming, yet not surprising, to see that our community has shown up for this beautiful boy and his family,” said D’Alessandro.
“We’d like to thank the community coming together for us during that time was enormous,” said Stephanie. “We couldn’t’ have done it without everyone.”
#wheelingformark.
But the fundraising support hasn’t ended. Ennismore Cares has launched the second phase of the campaign — a cartwheel challenge called “Cartwheels for Mark Campaign” and utilizing the social media hashtag #wheelingformark.
Community members are challenged to film themselves on social media, complete a cartwheel, donate $25 to the campaign and challenge three other community members to do the same.
On Tuesday, more than 400 students at Mark’s school, St. Martin Catholic Elementary School in Ennismore, kicked off the challenge and challenged other schools in the Peterborough region to do the same.
“We decided on the cartwheel because the students at St. Martin love to do cartwheels and we love the Mose Family, so we tied it together,” D’Alessandro told Global News Peterborough on Tuesday afternoon.
“We wanted to raise money for this incredible family and thought the cartwheel challenge would be a fun way to help us reach our goal of $20,000.”
D’Alessandro says sister companies Park Place Financial, Peak Benefit Solutions and Farm Life Financial are matching dollar-for-dollar funds raised (up to $3,000) for the Cartwheels for Mark Campaign with a goal of raising $6,000.
She says the funds will help cover medical expenses, trips to Toronto for Mark’s appointments and accessibility issues.
“We are about $5,000 away from our goal so this is a great way to push us over the top,” she said.
To support the campaign, visit the campaign’s new GoFundMe page. Ennismore Cares will provide updates on its Facebook page.