Gracelyn and Elisha Patey at the bake sale in Jubilee Park, Southampton, August 23, which raised $700 for the Loeys-Dietz Foundation.

Hub Staff

Three years ago, 10 year old Gracelyn Patey of Port Elgin was diagnosed with Loeys-Dietz Syndrome (LDS), a very rare genetic disease which affects the connective tissue throughout the body. LDS was only discovered in 2005 and features can occur in the heart, blood vessels, bones, joints, skin, and internal organs.

With no government funding for LDS, Gracelyn's family and friends are now raising awareness about the disease and fundraising for the Loeys-Dietz Syndrome Foundation.

At Jubilee Park in Southampton on August 23, Saugeen Shores' Kamp for Kids helped to kick off the local fundraising by hosting a by-donation bake sale and lemonade stand, raising $700 for Gracelyn to go towards the Loeys Dietz Foundation.

Kamp for Kids owner and family friend, Jodi Tomori, said that children at the summer camp had been baking all week in preparation for the fundraiser, which included sweet treats such as sugar cookies, rice crispy squares, brownies, and cake pops.

Gracelyn's mom, Elisha Patey, said that her daughter had also really wanted to find a way to bring awareness to the disease and help to raise money for the Loeys-Dietz Foundation. “She decided she was going to design a logo to show the characteristics you must have when living with Loeys-Dietz Syndrome,” explained Patey, adding that with Gracelyn's ideas they sat down together and designed a logo that represents bravery, courage, and strength.

“This is her Loeys Dietz warrior logo," said Patey.

The logo includes many different aspects, from the Loeys-Dietz colour of blue to the heart in the centre of the design to Gracelyn's initials within it. “She really wanted it to be hers,” said Patey.

After drawing up Gracelyn's ideas and creating the logo, Patey then took it to Gord's Imprints & Design in Port Elgin. “We created the whole thing and put it together and they brought it to life."

Patey added that there will soon be a LDS page on Gord's Imprints & Design website where merchandise, including shirts and sweaters with Gracelyn's Loeys-Dietz Warrior logo, can be purchased. “That way we have it available across Canada, so it's a huge step for us," said Patey.

The aim is to have the LDS page live prior to September 6 when the Heritable Aortic Disorders Symposium is set to get underway in Montreal. At the event, the Loeys-Dietz Warrior campaign is set to be launched and will feature a video showing Gracelyn helping Gord print a t-shirt and talking about the campaign. "They're also going to have iPads there that will direct to Gord's website so people can start ordering,” explained Patey.

Things have been tough for Gracelyn since she found out she had LDS. “She's very, very quiet since all this happened, so just being able to talk about it and this logo was just a lifesaver because it's something she's proud of," explained Patey.

Gracelyn was diagnosed following a visit to The Hospital for Sick Children in Toronto for a muscle issue in her neck. “She's hypermobile, she's literally like a contortionist,” said Patey. “She started showing the doctor how she could turn her feet backwards and all this stuff.” This prompted the doctor to send Elisha and her husband for genetic testing for connective tissue disorders. The results were negative for her parents but different for Gracelyn. "Hers is spontaneous mutation," explained Elisha. "We joke around and say you're pretty much like an X-Men.”

Gracelyn now sees 11 different specialists. “We were down at Sick Kids sixteen times last year,” said Patey. “She sees an ocular geneticist for her eyes, she sees a GI doctor, she has an allergist because there's a ton of allergies that go with it, she has a complex spinal clinic team for her bones and her neck instability, she has an orthopaedic surgeon because of all the bones and joints, she has a neurologist because she was getting severe headaches, it just goes on and on.”

Patey said that because connective tissues run throughout the entire body LDS people who have the disease are affected differently. “There's also things that go with it,” she said. “There's lots of kids with Loeys-Dietz that get scoliosis with it, now they have back surgeries then a lot of patients have to have open heart surgery because they have to have their aorta route replaced or they can have aneurysms.”

Eye issues are another concern with the disease, said Patey, explaining that Gracelyn has to wear safety glasses in case she gets knocked. “They can have their retinas come away from their eye,” she said.

Patey said that a lot of children with LDS have learning disabilities yet Gracelyn, who attends École Port Elgin Saugeen Central School, is actually more advanced in class. “It's crazy because having the syndrome means nobody is the same,” she said. “It's not like a text book where you can say you're going to get this and this is going to happen."

Gracelyn's friends are all aware that she is unable to do certain things, Patey explained, and added that an emergency plan is in place and accommodations are made at school. “She can't do any contact sports, no cartwheels, no diving, no trampolines, nothing because of the instability in her neck,” she said. “She also can't get her heart rate above 140 because it puts too much pressure on her heart.“

Gracelyn still participates in activities but in different ways. “So if they're playing soccer she helps out with coaching, stuff like that, so she can still be involved,” explained Patey.

Patey said that she now wants to focus on raising more awareness about the disease and fundraising for the Loeys-Dietz Foundation and is looking ahead to a possible fundraising event next year.

Ten year old Gracelyn Patey wears a t-shirt with the Loeys Dietz Warriors logo she designed with her mom. Photo submitted

There were plenty of tasty treats on offer at the bake sale fundraiser August 23 at Jubilee Park.

Sugar cookies, rice crispy squares, brownies and cake pops were just some of the treats that Kamp for Kids children had made.

The lemonade stand was a big hit on a warm sunny morning August 23. Manning the stand were, from left, Tatum (8), Lundyn (7), Ryleigh (7), and Cole (6), all from Kamp for Kids.

Face painting was a big hit at the bake sale August 23. From left, Aleigha (9), Eadin (8), Brynn (5), Ewan (6), and Gracelyn (10).

Kamp for Kids owners Jodi Tomori (left) and Stefanie Carr (right) with the help of Andria Culbert, had been busy all week baking with their summer campers.