Facing the Unthinkable, Families of Children With Rare Diseases Build Their Own Community | KBIA

Facing the Unthinkable, Families of Children With Rare Diseases Build Their Own Community

Aug 1, 2018

Rebekah Hasty from Richland, Missouri, traveled nearly four hours to Pere Marquette state park outside Grafton, Illinois. She had brought her partner, Shane Worley, as well as their two grandchildren, Symphony and Jimi, to a regional family meetup for individuals affected by Zellweger Spectrum Disorder.

There were many activities planned that weekend including a river cruise, art projects and simply sitting around and talking about family members who are affected by this rare disorder.   

“My favorite thing probably to do with Jimi right now is peek-a-boo,” Hasty said. “And when you pull that blanket back his whole face just lights up and it’s just like a ray of sunshine in your day.”

Hasty is the primary caretaker for both her grandchildren, and she said that Jimi is an energetic, curious 18-month-old, but when he was born, he was “failing to thrive.”

Then after some genetic testing, he was diagnosed with Zellweger Spectrum Disorder.

“Which was completely – never heard of before,” Hasty said. “Actually, the geneticist called on the phone, gave us the name and her comment was, ‘I can’t handle this, I will refer you somewhere else.’”

There are an estimated 80 cases of Zellweger Spectrum Disorder in the U.S. – 190 in the world.

Zellweger Spectrum Disorder is also sometimes referred to as a peroxisomal biogenesis disorder. These peroxisomes are a part of every cell, sometimes called the “forgotten organelle,” and in these disorders, they’re missing or don’t work properly.

Melissa Bryce Gamble is the founder of the Global Foundation for Peroxisomal Disorders [GFPD] and the mother of Ginny, her daughter who was diagnosed and passed away at 6 ½ years old.

“She really was the love of my life. She was a bright, happy child,” Bryce Gamble said.

Melissa Bryce Gamble, left, is the founder and executive director of the Global Foundation for Peroxisomal Disorders. Mousumi Bose is the Chair of the organization's Scientific Advisory Board.
Credit Rebecca Smith / KBIA

She said Zellweger Spectrum Disorder is a multi-system disorder or, more simply, “everything goes wrong.”

Children with the disorder can have hearing problems, blindness, neurological issues, cognitive impairments, liver and kidney issues and, most of these children, do not live past the first few years of life.

Bryce Gamble said once her daughter was born she searched first for a diagnosis, but even after the diagnosis, information was limited and hard to find.

“I wanted to be the expert on my child, and I think we have to become the experts,” Bryce Gamble said. “If we’re not the experts, no one will be.”

To fill in this gap, she created the GFPD in 2010. They now host a regular bi-annual conference, created a Scientific Advisory Board and host regional meet-ups for families, like the one Hasty and her family were attending in Illinois.

“It’s really a good time of sharing, of parent to parent mentoring and just having the sense that you’re not alone for a weekend out of the year,” Bryce Gamble said.

The organization puts an emphasis on scientific research, spending more than than $370 thousand on research last year and giving parents access to the Scientific Advisory Board.

Mousumi Bose is the chair of the Scientific Advisory Board and the mother of Elon, who was born with Zellweger spectrum disorder and passed away just a few months after his first birthday.

“We spent a lot of time at home, so we danced a lot – to Queen,” Bose said. “He really loved ‘Under Pressure,’ and whenever I hear it, I think of him.”

She said she often felt helpless and that, after Elon passed away, she got involved in advocacy as a way to heal and help other families. Bose said she never looked back after joining the board, as it reinvigorated her love of research.

“It was him [Elon] that made me love research again,” Bose said.

Bose said that she now does research into Zellweger and other rare diseases – hoping to apply what she has learned across multiple disorders.

Bryce Gamble said simply because there are smaller numbers of people affected by these disorders, does not make research into them any less important, and added that research into this one rare disorder and peroxisomes could have further implications for other more common diseases, like Alzheimer’s.

The families of children diagnosed with Zellweger Spectrum Disorder gathered together to share stories and experiences.
Credit Rebecca Smith / KBIA

For Rebekah Hasty, this organization and its emotional support, the community and the research, all boil down to one thing – hope for her family and her grandson.

“When you Google this syndrome, the first sentence on most of them is, “these children live six months to a year,” Hasty said. “Since Jimi was already past that point, it was, “how many days do I have left? How many months or what am I looking at? So, by seeing their stuff and talking to them and getting some information, it gave us some relief that there are kids that are doing this and doing great.”

And as the day turned to night, the families started to gather in the large lobby of the hotel like a group circling the wagons, sharing stories and lived expertise.

Hasty’s partner and Jimi’s grandpa, Shane Worley, sat among them soothing his grandson with a simple song, and, for one moment, perhaps not thinking about the future.