She’s Racing To Save The Clinical Trial That Could Help Her Daughter In The Fight For Her Life Against An Ultra-Rare, Fatal Disease
Rebekah Lockard is a mom on a mission: she’s racing to save the clinic trial that could cure her toddler daughter of an ultra-rare, fatal disease.
Rebekah’s two children, Naomi and Jack, were both born with a neurological disorder called Spastic Paraplegia 50, or SPG50.
SPG50 is inherited and caused by mutations in the AP4M1 gene. It usually begins during infancy, impacts the central nervous system, and gets worse as children grow older.
Some of the first signs of SPG50 are seizures and developmental delays. Children can also exhibit impaired speech and intellectual disabilities.
As SPG50 progresses, it leaves children paralyzed. But the worst thing is anyone diagnosed with SPG50 has a lifespan of twenty to thirty years.
“Parenting any child with a disability is tough, but ultra-rare conditions are even more challenging and isolating,” Rebekah explained on a GoFundMe page created for her daughter Naomi.
“There are no annual walks to raise money for a cure, no local support groups, no symbols for awareness.”
“Affected families are spread far apart and left to learn to manage the disease mostly alone. Our children’s doctors learn about the disease alongside us, or, in some cases, from us.”
According to this study published on June 28th of this year, SPG50 is so exceptionally rare that it has been identified in less than 100 people so far.
GoFundMe – pictured above are Rebekah and Evan Lockard with their children Jack and Naomi
And Rebekah’s children, Naomi and Jack, are the youngest kids to ever be diagnosed with SPG50.
Rebekah gave birth to her daughter Naomi in July of 2021, and when Naomi was around two-months-old, Rebekah and her husband Evan realized she wasn’t on par with certain developmental milestones.
They voiced their concerns to their pediatrician, who brushed them off and figured they were being worry warts since Naomi was their first child.
At six-months-old, Naomi was so far behind other kids her own age that she began physical therapy in an effort to help.
Naomi did progress slowly but surely, then in December of 2022, Naomi’s therapists suggested that she undergo more testing to find the reason for her not catching up to her peers.
“On May 12, 2023, exactly four weeks before her brother was set to be born, the world fell out beneath our feet: Naomi was diagnosed with SPG50,” Rebekah wrote.
“It was caused by inheriting two mutated copies of the AP4M1 gene – one corrupted copy from each parent. And that meant that Jack had a 25% chance of being affected too.”
Jack entered the world in June of last year, and it wasn’t long before his genetic test came back positive for SPG50.
Now, there is an experimental therapy that seems to slow down the progression of the disease, developed by another parent whose child was diagnosed with SPG50 – Terry Pirovolakis.
In December of last year, Jack was able to receive this therapy, and now he’s doing extremely well. The treatment stops the progression of SPG50 and improves cognitive function.
However, the clinic trial that Jack participated in had another phase that was supposed to launch back in September, but due to lack of funding, it didn’t move forward, so Naomi has not been treated.
“The trial needs $1.5 million dollars in order to begin treating this fall,” Rebekah said. “The treatment is sitting in a refrigerator, ready to be dosed, but there isn’t enough money to make it happen.”
So, Rebekah created a GoFundMe page in the hopes of raising enough money to save the clinical trial that has the potential to cure Naomi.
Naomi started preschool this fall, and Rebekah describes her as hilarious and self-assured. Naomi is making progress and is learning how to walk and communicate with a device, sort of like a tablet.
“She learned to drink from a straw and is saying “mama” consistently,” Rebekah added. “If she doesn’t receive treatment, she will lose all of that and more.”
“Without treatment, she will slowly but steadily deteriorate until she becomes a quadriplegic and then passes away at the age of 20-30. As a mom, I beg of you – please help save our daughter’s life.”
You can view the website for Jack’s Corner, the 501(c)(3) Rebekah and Evan created here, and the GoFundMe for Naomi here.
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