Five members of a Calgary family are among the estimated 30 confirmed cases of a rare form of genetic diabetes worldwide and a relative with a gift for baking is taking it upon herself to raise funds to assist with research into their disease.
Gayle Paolini was diagnosed in the 1950s with diabetes when she was an infant. Decades later, her two daughters were both diagnosed with the same disease.
“(Chelsea) was two-and-a-half when we first found out and when Ash was born 11 months later, she had whooping cough at two weeks, developed diabetes at 9 months,” recalled Gayle. “We found out the same week. They went on insulin immediately.”
Chelsea Paolini says the family doctor could tell from a young age that she and her sister did not have a typical case of Type 1 diabetes.
“We had a really good doctor that knew something was off but, back then, there was no genetic testing, there was no way to tell,” said Chelsea. “It wasn’t until I was pregnant with Logan that we really found out what it was.”
Gayle Paolini and her two adult daughters were found to have a rare genetic mutation that mimics Type 1 diabetes.
“Typical type 1 is an auto-immune disease,” explained Chelsea. “Your pancreas just sort of shuts down, stops working, stops producing the cells to create insulin. Ours is genetic in that we create insulin, our pancreas isn’t broken per se, but the insulin we produce is mutated. It’s basically rendered useless by the body.”
“We function like type 1 diabetics,” said Gayle. “My daughters and I are on insulin pumps. You still check your blood sugars.”
“We can’t get into any studies because we’re not the typical type 1 diabetes.”
Gayle says she was the first of her family to have the genetic mutation as her parents, siblings, aunts and uncles did not have it. Her grandchildren, Chelsea’s five-year-old son Logan and two-year-old daughter Neely, have both been diagnosed with the condition.
“We are a family of five of possibly 20 to 30 people in the world, that we know of right now, that have this genetic mutation,” said Gayle of her, her daughters and her grandchildren.
Medical researchers in the United Kingdom are exploring genetic diabetic mutations but funding for the rare condition is limited.
“I don’t think anything will be done in my lifetime,” said Gayle. “What I would hope for is that for my grandkids that there is a cure, that they find a way to stop this mutation.”
“It’s nice to know that they are there and that they’re doing some research into it,” said Chelsea. “There’s different kinds of genetic diabetes. It’s not just what we have. There’s a lot of different kinds and they’re studying all of them.”
In an effort to help the cause, Gayle’s sister Millie Krenzel, a baker who recently published her family favourite recipes in a cookbook, told her family she would be donating the proceeds.
“Everywhere I go, I take a cookbook always in my purse and I’m liable to sell two or three a day,” said Millie with a laugh. The baker, who is a regular contributor on CTV Morning Live on Calgary, says she hopes to raise $5,000 for research.
“I was really quite blown away that she would want to donate it,” said Chelsea of her aunt’s plan to drum up support. “For something that she’s worked on for that long, you want to see her reap some rewards of it. But she said ‘No, not a chance this is all going to go to help you guys and help the team over in the UK’. (The researchers) were so delighted when I talked to them about it. They couldn’t believe that we would to do something like that to help them.”
“And she’s a good baker, a good cook so all the recipes are quite good.”
To purchase a copy of Millie's cookbook, visit Treasures from Nana - The Holiday Baker
With files from CTV's Kevin Fleming
