Huntsville Doppler is sharing Avery Aubin’s story to highlight Rare Disease Awareness Day. We are also featuring this courageous, young boy as our weekly extraordinary person profile.
Three-year-old Avery Aubin has a smile that could light up the darkest room.
In fact, that’s what’s so remarkable about this boy. He smiles a lot. He giggles and runs around and he loves to scribble and draw in his notebook. He goes to pre-school and plays with his friends. He has a blankie and his favourite food is cheese and crackers.
But despite his zest for life and the happiness he exudes, Avery is facing a grim future. He suffers from Hunter syndrome, a rare, genetic disorder caused by a missing enzyme that is essential for breaking down complex sugars in the body. There isn’t one part of his little body that hasn’t been affected by the disease: his brain, his heart, his liver and spleen, his bones and joints and even his skin. Avery just got hearing aids back in October and only time will tell when he will lose his hearing completely. He can only say a few words and he may never have a full vocabulary. If he’s lucky, he will live to be a young teenager, but that won’t be without a cost. The highly progressive disease, which requires the second most expensive medicine in the world to treat, usually sees its victims in a palliative state by the age of six. It’s every parent’s worst nightmare.
“Avery’s medical history was a mystery,” explains his mom, Leslie. At four months his nose started running and wouldn’t stop, he had frequent urinary tract infections, he kept failing hearing tests and his stomach was extended. “He had a lot of illnesses for one little boy, so we were kind of investigating and solving those problems as they came up. He had his first surgery at 14 months old and he still hadn’t been diagnosed.”
On March 30, 2015, Avery became the second person in Canada in two years to be diagnosed with Hunter syndrome. And ever since that first surgery to remove a hernia from his groin, he has had six others. He’s been under anesthesia eight times, had 100 body infusions and 12 on his brain. He has his own team of doctors and nurses, specialists and therapists. He’s become accustomed to long car rides. He spends a lot of time at SickKids Hospital in Toronto and he’s treated so well there, he never seems to mind the frequent visits. It’s his home away from home.
“He’s the happiest, healthy-looking dying kid you’ve ever seen,” says his mom. You can detect the despair. Avery is clinically ill and his condition is terminal. She and her husband Geoff are watching their only child die.
The only saving grace that is slowing down the progression of the disease is the enzyme replacement therapy he is currently receiving. Almost a year after his diagnosis, the Aubin’s agreed for Avery to be enrolled in a clinical trial at SickKids Hospital in Toronto where an experimental drug is injected into his brain once a month. While this form of ground-breaking enzyme therapy had already been going on in the States for more than five years, Avery became the first person in the Canadian portion of the clinical trial to receive the treatment.
We are so gracious that we were able to access the enzyme gene therapy because it’s making Avery’s life better. The science is already there now. They [doctors and experts]have what they feel is the cure and the solution to Avery’s disease, but they don’t have the funds to start up the clinical trial to confirm what they already know to be true.
Once a week, a specially trained nurse comes to his Huntsville home where she administers a $6,000 vial of powerful medicine that acts as an artificial enzyme to slow down the symptoms associated with Hunters syndrome. Soon, though, he will be needing a $9,000 injection. The amount he needs is based on his weight. Avery has no idea that his parents have to restrain him while he gets jammed in the chest once a week.
“We’re relying on these two drugs to keep him stable and as damage-free as possible for when this cure comes down the line.”
It was upon learning that there was no government funding available for the costly enzyme replacement therapy that Leslie’s mother began doing her own research. She came across the Isaac Foundation, an organization that provides support and advocacy to patients and families who are faced with the various forms of this type of disease. Within a week of Leslie’s mom contacting the director, he drove to Huntsville to meet the Aubin family. He also advocated with the drug company that produces the medicine for the enzyme replacement therapy to put the Aubin’s on the compassionate use program.
Every time something goes wrong or he needs another surgery it reminds you that he’s dying. It’s not stopping, it’s not getting any better.
Knowing that a cure is there but that money is standing in the way is prompting the Aubin family to do everything they can to help raise awareness and funds for the cause. The science is promising. The more awareness that is put out into the world, the better the chance of the cure becoming a reality. Anyone who wishes to support this amazing, little boy and his family’s ongoing battle for a cure can do so in his name by visiting theisaacfoundation.com.
Avery has been responding well to the injections. For the moment, anyway. But things can take a turn for the worse at any given time. The doctors who treat this life-taking disease told the Aubin’s to expect one horrendous happening with his health every year. They have been told many times that the road ahead of them is going to be a rough one.
Clearly, Avery is a fighter. He’s been poked and prodded hundreds of times and undergone more surgeries than most people have in a lifetime. But somehow, through it all, he still manages to smile. Every single day. The strength of the human spirit is indeed a miraculous thing. He isn’t like other kids his age, but that doesn’t seem to bother him. Like his loving parents, he seems to be taking it one day at a time.
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