When parents learn that their child has a rare, progressive disease without a treatment, a few common paths often get taken. They go home and love the remaining time with their child. Or they may pursue lofty dreams of finding a treatment as soon as possible. Or they may settle in for the long journey of finding a treatment that may get approved long after their own child has passed.
David and Lindey McIntyre, the parents of Bethany, look all three paths.
When Bethany was 2-years-old, she was diagnosed with metachromatic leukodystrophy (MLD), a rare genetic disorder in which a person is lacking an enzyme called arylsulfatase-A (ARSA) due to a mutation in the ARSA gene. That lack of the enzyme leads to a buildup of sulfatide that progressively destroys the white matter in the person’s brain.
There are different forms of MLD that are categorized by the time that symptoms first appear. Bethany had late-infantile MLD in which children develop normally for the first 6-18 months but then they begin to decline and seldom live to see their 7th or 8th birthday.
In an interview the Zeal Access, David McIntyre described the following years of her decline as physically, emotionally, and financially draining. But during that time, they continued to love their daughter but they also formed the Bethany’s Hope Foundation to fund research. McIntyre said, “At that time, we were racing against the clock. There was no research being done in Canada that we were aware of.” The only researcher they could find nearby was at the University of Pittsburgh. “We did a bunch of fundraisers. Selling hamburgers, hotdogs, Chili-days, golf tournaments, and that kind of stuff. And we raised our first $10,000 and went down to Pittsburgh,” continued McIntyre.
“The first thing he told us was ‘Mr. McIntyre, there is nothing you can do to save your daughter. Any research you fund will take too long to help her.’” With that sobering knowledge, the McIntyres returned to their home in London, Ontario and decided that they can still do something but they also soon learned that it had to be in Canada. Otherwise the Canada Revenue Agency would penalize them. So, they talked to the Dean of Medicine at Western University in London and asked him what was needed to start a research program there.
The dean said they would need to raise about $1 million to even consider the idea of starting a research program.
So that is what they did. “We did a presentation at a gala and asked if anyone knew how to do a home lottery because we need to raise a lot of money quickly,” said McIntyre. One generous builder agreed to supply a house and working with the home builders’ association, they were able to raise $1 million selling $100 lottery tickets for one lucky winner to get a new house.
And in 1999, a MLD research program began at Western University under the guidance of Tony Rupar, PhD, Associate Professor of Biochemistry and Paediatrics. And since 1999, Bethany’s Hope Foundation has continued to fund that program with over $4 million in funds.
Sadly, in the summer of 2000, Bethany passed away at the age of 7. But her legacy continues as the research in Dr. Rupar’s lab continues to show promise. The research team hopes to start large animal studies soon that will test a gene therapy that introduces a functional ARSA gene vector into the brain. The protocol for those studies is currently under review by Health Canada.
Finally, when asked if there is one trait that has helped them the most to raise over $4 million to advance research, McIntyre said it was the team of volunteers that motivate him to keep going.
“We have been blessed from day one with so many dedicated, hardworking compassionate Volunteers! Lindey and I receive many compliments about the various Projects we conduct in the community — but the truth is that we would not have raised the levels of funds we have and supported the research lab as long as we have without being shoulder to shoulder with these folks! Thousands and thousands of hours have been ‘donated’ to Bethany’s Hope over the last 22 years! They have been with us in the Park year in and year out, in the blazing July heat and the monsoon type rain for the children of leukodystrophy,” said McIntyre, adding, “Rare did not matter to these amazing people. In my opinion, cultivating and maintaining a core of volunteers is critical to the longevity of any small non-profit/advocacy group like ours.”
Some of those volunteers can be seen in the video here. vimeo.com/222800831
Moving forward, the McIntyres, with the help of their volunteers, are continuing their efforts to raise funds to keep the research going. Their next big event is Chef Michael Smith’s Feast with Friends on April 5, 2018.
For more information about MLD and Bethany’s Hope Foundation, visit http://bethanyshope.org/