A pair of siblings from Okotoks have been diagnosed with an extremely rare metabolic disorder.

Back in May of 2022, Brittny Etheredge noticed that her 4-year-old daughter's chest was protruding out and not looking normal, so she arranged for a doctor's visit.

After doing a set of tests to determine whether or not it was Scoliosis, the results came back indicating something even more rare.

In September of 2022, 4-year-old Stella Beet was diagnosed with Mucopolysaccharidoses type IV (MPS IV), otherwise known as Morquio syndrome.

"This is a very rare genetic disease that is found just in families," explained Stella's aunt Brodi Etheredge. "So, after Stella was diagnosed, they of course had [Stella's younger brother] Max diagnosed as well, and it came back that, he too, has Marquio syndrome."

Max was only 22 months old at the time.

Marquio Syndrome can be found in between 1 in 200,000 and 1 and 300,000 births, with only an estimated 75 cases in Canada.

People with Morquio syndrome do not produce enough certain enzymes that are used by the body to break down keratan sulphate.

This allows for the keratan sulphate to build up to toxic levels and can cause problems in people's bones, arteries, eyes, joints, ears, skin, and teeth, causing physical deformities.

"So, it leads progressively to them having to be wheelchair-bound by their teen years, it reduces their quality of life significantly," Etheredge says. "And for a lot of these children who don't have any medical help with it, a lot of them don't live past the age of 30."

Etheredge adds that what typically happens to people with this syndrome is that their skeletal system can't develop enough for their organs to expand, causing many to aspirate and pass away from suffocation.

People are generally diagnosed with Marquioa syndrome between the ages of 3 and 5, because that's when the deformities caused by Morquio syndrome become more obvious, and there are two types of Morquio syndrome.

Both Stella and Max have Type A, which means they are missing the Galactosamine-6 sulfatase enzyme, and is generally severe.

"Having a life expectancy put on your children is a nightmare I wish on no parent," said Brittny Etheredge in a YouTube video explaining what they are going through. "So, when they were first diagnosed, we were told that there is no cure. There is one drug on the market that is advertised as trying to help slow down the progression of the disease. Its efficacy is questionable. 'Cause Morquio syndrome is rare and there's not a lot of data. They're hopeful that this drug is helping slow stuff down, but it is not guaranteed."

If they decided to try that medication, both children would be required to have permanent ports placed in their chests so they could receive a once-a-week, five-hour-long IV fusion of the drug for life.

"The drug's also extremely expensive, and Alberta is currently one of the only provinces left that has no government funding for it. So, that poses a big problem," explained Brittny.

Even if they wanted to try the drug, there were big hurdles to get over to make it possible.

After reading everything they could find, and contacting everyone they could find who had information and knowledge about Morquio syndrome, it became clear that Stem Cell Therapy may be an option to help.

"We had to go through a lot of hoops, but we finally did get in with the transplant team at the Alberta Children's Hospital and they listened to us," said Brittny. "They read our research. They contacted the doctors we contacted and decided to hold a physicians' forum and discuss our kids' case and agreed that Stem Cell was an option for them. If we wanted to go that route, try and get their bodies to produce this enzyme on their own."

They have already found donors for their children, and they are expecting to begin treatment this summer, making them the first people in Canada to receive Stem Cell Therapy for Morquio syndrome.

Stella will receive treatment at the beginning of May, while Max will start treatment later in the summer.

While it was scary to receive that diagnosis about their children, Brittny and her partner Aubrey Beet both found a lot of faith and hope and encouragement from people in their lives.

In order for both Brittny and Aubrey to be able to afford to stay home with their children while they go through all of these medical procedures, they are hoping for the community to help pitch in towards their GoFundMe.

"We are very hopeful for what's to come. We have faith in the Alberta Children's Hospital and the treatments we are about to go through with the kids," said Brittny.