CARSTAIRS - Anyone who raises a family knows it is very rewarding but can also be challenging in many ways including financially.
For those living with a child with a rare disease those challenges are magnified many times.
The Holland family from Carstairs wants people to know that Feb. 29, 2020 is Rare Disease Day in Canada; a day to bring awareness for diseases that are not as familiar as others.
Dustin Holland and Ashleigh Aikman-Holland's five-year-old son Austin has an extremely rare genetic disease called KIF1A associated neurological disorder (KAND).
He is one of only 26 people in the world diagnosed with KAND and one of only 10 in the world with his particular mutation.
The disease leaves Austin severely disabled, unable to walk, talk, sit or feed himself. He is also blind and suffers from a form of epilepsy – Lennox Gastaut syndrome – that does not respond to treatment, resulting in frequent seizures.
Austin is on a restricted and strict ketogenic diet to try and help control his seizures.
“We tried three different medications and they all failed,” said Aikman-Holland. “They were not working and his seizures were getting longer. It was anywhere from five- to 20-minute seizures upwards of 10 times a day.”
With the ketogenic diet, Austin has seen a 50 per cent reduction in the number of seizures, said Aikman-Holland.
He also stopped drinking and eating in the past year and has to be fed through a gastrostomy tube.
KIF1A is a regressive disease meaning over time Austin and others with the disease will lose whatever gains they may have made.
The Hollands are hopeful that with more awareness around KIF1A and other rare diseases will come more funding and more research.
“We have a lead researcher who is working on trying to get a treatment or some kind of plan in place,” she said. “She thinks there are tens of thousands of people out there who don’t know they have it.”
Aikman-Holland said the first case was only tested for in 2015.
“Anyone who is like Austin, they diagnosed him with cerebral palsy, which is sort of an umbrella term, not an actual diagnosis,” she said.
“So we like to bring attention to that and get people to get tested if they hadn’t been tested in awhile if they have similar symptoms.”
The family takes Austin to Alberta Children’s Hospital at least twice a month for various tests and procedures.
“He’s had five surgeries, three sedated MRIs, tons of EEGs (electroencephalogram),” she said. “So yeah, that gets expensive. And then all the equipment and medication costs.”
The Hollands were hoping to modify the minivan they currently own but quickly realized they needed a full-sized van.
“We realized we have no room in a minivan,” she said. “So we have to go up to a full-size van so we have room for the two girls because we take out the entire back row for Austin.”
The family is fundraising hoping to raise the estimated $100,000 it would cost for a modified wheelchair accessible full-size van.
“We can’t go anywhere in a minivan,” she said. “So we’re looking at a full-size van so we have enough room.”
The family recently purchased a bungalow after they found their two-storey house inadequate for Austin’s needs.
“We had a house built because we had stairs, narrow hallways, and a bathroom that was not functional,” she said. “So we built a bungalow with a ramp to the garage.”
Despite all the setbacks, it’s very clear that Austin is a charming young fellow and much loved by his family and others he’s met.
“He’s sweet and he has the best smile in the world,” she said. “He lets you know when he likes something and he lets you know when he doesn’t.”
In order to provide for his family, husband and father Dustin spends a lot of time away from the house working and taking extra shifts as much as he can.
Aikman-Holland’s mother, Deb Porath, helps the family as much as possible, as do other relatives who live nearby. She is also hoping to see more awareness around rare diseases.
“Because it’s so rare there is just no funding out there for it,” said Porath. “So you have to do things to elevate the disease in the eyes of the general public who haven’t heard of it.”
It’s usually the adults that have difficulty discussing tough subjects such as disease, she said.
“Kids are pretty comfortable with Austin but I think the parents don’t tend to ask questions whereas kids ask tons of questions,” she said.
Porath said she and her daughter have done a lot of research on their own about the disease and also belong to a few groups on social media.
“We’ve just been doing our own research on the website and sharing it with the other parents and grandparents,” she said.
Dr. Diane Smith, a Didsbury physician and chief of staff at the Didsbury hospital, said that it’s difficult to get funding for certain diseases simply because they are so rare.
“It definitely makes it more difficult to get any research funding allocated because there is such a small pool of people that that is going to benefit,” said Smith.
“Even if the benefit to those patients can be huge, when there are diseases that you can impact hundreds and thousands of lives per year a person can make the argument a lot easier and find the funding easier and get a lot more research done.
“It’s not always about how important it is to the families and the patients. It’s about statistics, unfortunately.”
Smith said that being in a rural area outside of a big centre can present extra challenges such as transportation.
“But then when you’re in a smaller community you may have better community support because people know each other and it’s a different atmosphere in a small town,” she said.
Smith said she is familiar with how expensive it can be to retrofit a van for a wheelchair.
“I don’t think there is as much funding out there for that as people assume,” she said. “There are big costs there.”
The family is hosting a Mexican inspired meal and fundraiser on April 10 at the Carstairs Community Hall.
“It’s going to be a traditional Mexican feast with carnitas (pork) and carne asada (beef) tacos with rice and beans,” Aikman-Holland said. “There will be a silent auction and 50/50 raffle as well.”
People can purchase tickets or get more information by calling Aikman-Holland at 403-999-9239 or Porath at 403-969-7470. People can also check out the special Facebook page at Austin’s Wheelchair Accessible Van.
