Colorado family raises awareness, funds for cure to their two children's rare genetic disease
Since the moment their daughter Naomi was born, the Lockard family has been on a mission to change the outcome of their children's lives.
"Naomi is your typical, two-year-old," said Rebekah and Evan Lockard. "She's sassy, she's very opinionated, she loves chicken nuggets and veggie straws. She likes to interact with people, and then Jack, he's a pretty happy and content baby."
However, it became clear pretty quickly for the Littleton family that there were other things that were not so typical for the young girl.
"We were pretty concerned about her right away. She was missing milestones as soon as her two-month appointment," said Rebekah Lockard. "Our pediatricians kind of wrote it off, they said milestones were kind of ranges, and we were just nervous first-time parents."
After putting their daughter through physical therapy and other forms of early intervention, Rebekah says they did genetic testing on Naomi while she was pregnant with Jack.
"Genetic testing was released to us and our provider at the same time and I opened it right away and remember looking at all these words that I didn't understand and trying to Google it," she said.
Naomi had developed Spastic Paraplegia 50, a rare neurodegenerative disease. Rebekah Lockard says doctors told her less than 50 people are known to have it in the country.
"Evan and I both have one healthy copy and one corrupted copy of the AP4-M1 gene," said Rebekah Lockard. "If you have one corrupted copy, you're fine, we don't have any symptoms at all. If you have two corrupted copies, you get SPG 50."
The disease starts out with delayed motor and cognitive milestones, but it can snowball into paralysis and potentially never being able to speak.
"Around elementary school age, kids start to develop paralysis, They go from being really floppy and having no tone to having really high tone and it starts in their feet and works their way up their body until most of the kids are fully quadriplegic by the time they're in high school age," said Rebekah Lockard. "The lifespan for kids who are untreated is 20 to 30 years max."
The parents were told there would be a 25% chance Jack could also develop the disease. When he was born, that fear became real.
"As soon as he was born, we did a DNA swab kit and sent it off and he was unfortunately positive too," said Rebekah Lockard.
"It was just overwhelming, you can't process really," said Evan Lockard. No one knows exactly what you're going through. There's no support groups and there's just not a lot out there about it."
It was not until a new clinical gene therapy trial was introduced in the last year to tackle SPG 50, that the Lockard's finally had hope.
"We're in Dallas right now, because Jack was able to be treated early in December with the drug, which inserts the healthy copy of the gene into his body so the protein can take over," said Rebekah Lockard.
Jack, Rebekah and Evan remain in Dallas for the next two weeks while he undergoes the beginning of a multi-year drug trial, Naomi remains back in Littleton with family members.
"[Doctors] use a virus to transmit the healthy gene, and so Jack has this virus, and the doctors want to preserve her ability to be treated and so they don't want her to catch the virus because they're afraid it'll make her ineligible to get her own dose one day," said Rebekah.
She says it's a sacrifice not spending Christmas with both her children, which she hopes will give them both a chance at a better future.
"At the very least the disease will stop progressing," said Rebekah Lockard. "It might mean they don't develop that paralysis, that they keep their cognition, that they're able to work towards speaking and walking and doing all the things that most of us take for granted."
The Lockards have been crowdfunding to make this clinical trial a reality for both of the kids, with the hope it will cover the expensive procedure, travel, and even future research on SPG 50.
"Each treatment costs $500,000," said Rebekah Lockard. "So, for each child to be treated it will be roughly half a million."
However, they don't want to stop at just helping their kids. They also hope they can raise awareness to fund for even more children to benefit from these trials and other solutions to treating SPG 50.
"We want to raise as much money as possible," said Rebekah Lockard. "Give every kid with the disease a chance."
The Lockards say they have been blown away by all of the support they have already received from friends, family and strangers, and hope others can help usher in an even greater chance for children with SPG 50 to succeed in the new year.
"That's what we hope and pray for every day, that both of our kids can get this gene and it can start working on their body," said Rebekah Lockard. "Even though this is really our darkest days, we've seen a lot of good and humanity in our community."
Jack's Corner is a 501(c)(3) nonprofit that has been dedicated to helping improve the lives of children with SPG 50 and help find a cure. There is more information on the disease and the Lockards' story on their website.
