COLUMBUS, Ohio (WCMH) — A Columbus family is increasing awareness and raising money, hoping to help find a cure for a rare genetic disorder.
Lola is like a lot of three year olds. She loves dancing, playing with her toys, and books. Her parents, Sara Kear and Jake Kaufman, call her Lo. They want her to live just like any other kid as much as possible.
“She’s just such a joyful child that it was like this light in our life that really shone through even those really dark times,” Kear said.
When Lo was about nine months old, they found out she had Zellweger’s Spectrum Disorder, a rare genetic disorder. It affects development. Those with the disorder often have issues with sight, hearing and several health challenges inside the body. It’s usually terminal in childhood.
“It’s so difficult to navigate when you’re a parent and your child is turning one you’re thinking about all the milestones you’re going to celebrate from that one to two year mark and just realizing so suddenly that Lo’s milestones will be different,” Kaufman said.
Sara and Jake have come to realize that’s ok. Sometimes they call them “inchstones.” No matter what they call them, they love them.
“She brings a light into this world for sure that so many people recognize,” Kear said.
There is not a cure for the disorder. Sara and Jake want to change that. They started Hope with Lo and are having a 5k and inclusive fun run and walk on Oct. 29. All money raised will be going to research at the Global Foundation For Peroxisomal Disorders (GFPD).
“There are a lot of systems that are affected by these peroxisomal disorders and so there is a real real urgent need for a treatment that is going to directly address peroxisomal disorders as a whole, not just these individual symptoms,” said Dr. Mousumi Bose, a researcher with the GFPD.
Sara and Jake set a six month fundraising goal of $40,000 dollars. It was surpassed in less than 20 days.
“It’s such a hard and heavy topic but for us the day to day experience of parenting Lo is joyous and magical so we wanted this fundraiser to be something that carried that same hope and light,” Kear said. “This is about more than just Lo, this is about all of the kiddos with peroxisomal disorders and even bigger than that, all of the kiddos with rare disorders.”
Since the initial fundraising goal has already been met, Sara and Jake said they will likely be increasing it.
“The urgency for a cure doesn’t stop just because we hit our $40,000 dollar goal, so we feel really strongly that there’s a movement around this, people are passionate about it, let’s keep it going and let’s see what we can accomplish,” Kaufman said.