This week, a boy in Ottawa celebrated his 11th birthday. That may not be a remarkable achievement for most kids, but for Tyler Huneault, it was a huge milestone. Tyler is believed to be the only person in all of North America suffering from a rare disease that few children survive.
For 11 years now, Tyler has lived with sialidosis, a disease so rare, few in the medical community know about.
"Not only had I not heard of it, the person diagnosing it had not heard of it," says Tyler's mother, Ida Ryan.
It's a genetic disorder -- more specifically, a lysosomal storage disorder -- marked by the absence of a key digestive enzyme called sialidase. Without the enzyme, bones and muscles can't grow properly and organs such as the liver and brain grow abnormally large.
Before Tyler's first birthday, his parents saw the symptoms of the disease. His head had grown too large and his bones were weak. When his mother put him in a baby seat nine days after birth, he squeaked, probably from pain, she now says.
The disease has left Tyler much smaller than normal; he has fragile bones and problems with his liver and lungs. Most recently, his kidneys shut down and he now needs dialysis four times a week.
This past fall, Tyler even got sick with swine flu. He was on a respirator for 12 days and spent almost a month in hospital.
"That was a big battle. It was a year of big challenges," says his mom. "You take it one day at a time... one day at a time."
Tyler is feisty fighter, attending Grade 5 and playing video games like any boy his age.
"I'm like other kids except this disease is inside of me," he says.
He also has many of the same dreams as other kids.
"There are so many things I want to do when I grow up. Doctor is on the list, firefighter, prime minister..." he says.
Even among kids with sialidosis, Tyler is a rarity. With the type of sialidosis he has, many children die in utero before they are even born. Those who make it through infancy often survive only three or four years.
At 11, Tyler has defied the odds.
Many rare diseases like Tyler's have thin prospects for treatment, and are often dubbed "orphan diseases" since researchers who can't find funding are often forced to abandon research.
But in the lab of Prof. Suleiman Igdoura at McMaster University in Hamilton, Tyler's photos are on the bulletin board as inspiration.
Igdoura and his team of biologists study rare diseases like Tay-Sachs disease, Sandhoff disease and sialidosis. When members of his team met Tyler to learn more about his condition, they were inspired by his optimism.
"The impression we get -- not just myself but also my co-workers here and my students -- they feel that he has a great attitude, he loves life, he loves meeting people, he enjoys little things in spite of his medical difficulties," says Igdoura.
His team is now trying to better understand sialidosis and researchers have taken some of Tyler's cells to analyze their genetic defect.
"When we work on these disorders, we try to not only investigate what can be done, but also understand the biology behind it. And hopefully, that extends to other disorders of a similar origin," explains Igdoura.
His team is investigating a promising area of treatment called gene therapy. They have taken mice and replaced the defective gene with a healthy gene, using a virus. They've seen good success: after treatment, the mice regained weight and their organs began to work normally.
But the gene therapy is still far from being ready for use in people.
In the shorter term, researchers are looking at medications and treatment that would replace the enzyme that Tyler and others with his condition are missing. They hope to have a treatment available within five years.
It's expensive research, and the science moves slowly. But family and friends have been raising money for the lab.
"What's amazing is the community outreach and the help that they've seen from total strangers and through the church and through their family members," says Igdoura.
"They're raised money and they've worked hard to try to make this issue important and make people aware."
Igdoura says he hopes his team will be able to help Tyler and the other kids with the condition who come after him.
"I think Tyler has been an inspiration to us, there's no question," he says. "His fighting sprit lives on and allows us to keep going."
http://www.ctv.ca/servlet/ArticleNews/story/CTVNews/20100104/tyler_100103/201...
Loading...
1:07
Tyler Huneault and Fady the Boxer (Part 2)by GiovanniPublicist790 views
i am tylers cousin, and he is certainly a strong little man. I look up to him in so many ways. x - Rachel.
karchel97 3 weeks ago
Nasty man at McMaster and the worst researcher as well. I feel bad for this family giving this fool so much money and getting nothing in return. Everyone in the department hates him even his own students.....Check out his last publication its embarrassing......
burnit01 3 weeks ago
First
WaffleOnTheRun 3 months ago