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Isolation to Activism

 A family finds community and meaning with the Rare Disease Foundation

 By Doug Ward

Imagine your child has a debilitating medical disorder so rare that physicians are unable to provide a diagnosis or give it a name.

Isabel and Tyler Jordan, a Squamish couple, spent several years asking physicians at BC Children’s Hospital what was wrong with their son Zachary, now 13.

Why at age four was Zachary the size of a 14-month-old? Why couldn’t he say “momma” until nearly age four? Why did he develop a tumour in his jaw that required a 14-hour surgical reconstruction of his face? Why does his unknown form of dwarfism give him chronic joint pain and migraines?

Medical science had no answers – nor could it predict how Zachary’s disease would progress. “Really we were kind of lost at sea,” says Isabel.

The Jordans tried to find other parents with children battling the same disorder. “I wanted someone to tell me that Zachary was going to be okay, and that this is how they dealt with challenges.”

They could find no one. Zachary’s affliction, the Jordans were told, was one-of-a-kind. Instead of solace, they found social isolation.

Both parents were familiar with success in their lives. Tyler Jordan is the former president and CEO of Arc’teryx Equipment, the outdoor apparel giant. These days he is founder and head of a fledgling cycling apparel company. Isabel Jordan has a biology degree and worked as a freelance writer prior to becoming a stay-at-home mother with the two children, Zachary and Evie.

“My husband and I are on paper the kind of people well equipped to deal with something like a rare disease,” says Isabel.

But eventually the Jordans would find purpose through activism. In 2008 they and other parents founded the Rare Disease Foundation, along with BC Children’s medical geneticists Dr. Millan Patel and Dr. Neal Boerkoel.

There are up to 7,000 diagnosed rare diseases and many more undiagnosed disorders. Rare diseases are disorders affecting fewer than one in 2,000 people. “In terms of patients, one in 12 people will have a rare disease in their lifetime,” says Dr. Patel. “So it’s not uncommon in aggregate. But each individual one is very uncommon.”

The Rare Disease Foundation was established to provide support for rare disease patients and family members, and to spur treatment-based research. Its Parent 2 Parent Support Networks hold regular meetings where parents act as touchstones for each other.

“We meet about once a month and I am continually amazed how at just about every meeting, I learn something that is useful to me now or is going to be useful to me in the future, or ‘geez, I wish I knew that before,’” says Isabel, who has been national chair of the foundation since its inception.

Dr. Patel says that a sense of isolation has been common for families of children with rare diseases. “But if you put 40 people who feel super-isolated in a room together, then you’ve solved that problem for them.”

The other key pillar of the Rare Disease Foundation is funding medical research into therapies for rare diseases. The challenge for rare disease research and treatment is that provincial health agencies and the pharmaceutical industry are geared toward dealing with identifiable and common diseases such as cancer or heart disease. People who do not have a specific diagnosis, such as Zachary, can be denied access to essential medical services.

“For these patients, research is care. But research agencies don’t fund care and provincial ministries of health don’t fund research. So when research is care it means that the needs of families with rare diseases are falling through the cracks. So we created the Rare Disease Foundation to plug those cracks.”

The foundation has developed a micro-grant program to stimulate research on patient-centred projects. Dr. Patel says the foundation-funded research has led to the development of therapies for nine rare diseases. Two annual fundraising events have also helped the Rare Disease Foundation disburse over $600,000 in grant increments of $3,500.

Zachary is now in Grade 8, loves the video game Minecraft, enjoys taekwondo and sailing, and has a close group of friends at school. He gets good marks and dreams of becoming a marine biologist. He has the height of an average eight-year-old because of his unidentified form of dwarfism, and he’s unable to smile on the right side of his face because of the earlier surgery.

His proud mother wishes that life had been easier for her son. But his struggles have meaning, she believes, because they helped create the Rare Disease Foundation.

“Zach suffers through pain and things I wouldn’t wish for him,” says Isabel. “But if we can take that and make something good out of it, then at least it’s not meaningless. I am not much for fate but I am for wrestling meaning from it if you have to.”

 


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