Donald
Teuma-Castelletti
MANSFIELD ET PONTEFRACT
June 9, 2018
One family continued their fundraising efforts in support of the Cystinosis Research Foundation (CRF), as they see the good that their work helps with everyday.
For the Lepack family, every day they’re able to see MaryLynn Lepack succeed and smile, they know that fundraising events, like Saturday’s annual golf tournament at the Pontefract Golf Club, are well worth it.
“It’s been going great, the community has been awesome,” said MaryLynn’s mother, Marthe Drolet, of support received. “It’s a small town with a big heart.”
Nine-year-old MaryLynn was born with cystinosis, which is a genetic, metabolic disease that leads to a build-up of cystine in her cells. As cystine accumulates, the various cells die off early, which can lead to many greater health issues, including blindness, diabetes, organ failure and much more.
Drolet detailed how the last year has seen it’s ups and downs, but that through it all, the family has continued their fighting spirit as they look forward to advanced medicine and hope to see a cure.

While switching to a new schedule for her medication, MaryLynn has seen the benefit of less vomiting, which is a side effect of it.
“She’s been stable and I’m kind of happy where we’re at,” said Drolet, of this new schedule.
Her doctors are also happy with the overall effectiveness of the current medication, but it has been more difficult to constantly acquire it for families across the country.
Drolet explained that as a new drug entered testing for cystinosis treatment in Canada, the old drug, which had been both affordable and accessible to families, had become unavailable. The reason for this is because it was never formally licensed in Canada, but under a special access privilege granted by Health Canada, which is lost when they begin to test the new drug.
A fight ensued with Health Canada, and with the resources and guidance from the CRF, the family could enjoy access to the previous drug again, but there is a catch.
Now the family must reapply for the drug every two months. Previously, this application would only occur every six months.
Drolet said she is now forced to worry about whether it will be approved each time and what will happen if MaryLynn cannot access the drug because of a delay.
“We haven’t run out of the drugs so far,” said Drolet. “We’re just hoping that it will not happen.”
Still, there have been moments for MaryLynn over the past year that have helped her forget about her disease for a while. Soon, she’ll be starting a pen pal program, where she’ll write to others living with cystinosis, all the while learning about how they deal with certain aspects of it.
As well, in April 2017, she visited the CRF in California and the Lepacks joined other families there for a week of workshops and bonding amongst the children. Drolet said the trip was a great help for MaryLynn to see others living with cystinosis, all the while taking part in everyday activities.
MaryLynn highlighted working with a chef to make both pizza and cookies in their own fashion.
Drolet shared that the trip helped not only her daughter, but herself, too. While the kids could be occupied with all sorts of fun, the parents would attend workshops and share stories with each other. As well, specialists were always amongst the group, helping to breakdown the doctor-patient border and ease into casual conversation or answer questions as they popped up through the day.
As the disease is so rare, with roughly 2,000 cases reported worldwide, it is difficult to secure funding for research. Due to this, much of the fundraising falls on the shoulders of families, in order to support the CRF. Last year, the Lepack family raised nearly $5,500 with the tournament and donations from their church community.
This year’s tournament saw 36 participants and featured a slideshow of MaryLynn’s trip to California, as well as fun facts about her, as written by her.
“Of course, our main goal is to find a cure, but there’s still the day-to-day,” said Drolet, of the need for medication and equipment.
Drolet said that it was the continued support of not only the community, but her own family that makes the struggle every day possible, and that fundraising efforts like this would not happen without everyone’s involvement.
“I’m lucky to have my mother [Ghislaine Drolet], and she has her sister, so they help with the meal and selling tickets,” said Drolet. “It’s not easy to raise funds [for cystinosis research], people don’t know it like cancer. It’s harder to fundraise because you have to educate more, but they’ve been awesome here, not just in Fort Coulonge but all over the area.”