RIVERTON, Utah (KUTV) — A Utah six-year-old is fighting a battle few others in the entire world can understand. Tori Gardner has an extremely rare condition called reducing body myopathy, or RBM.
Only a handful of people across the globe have had RBM. It is a rapidly progressive condition that starts in young children, usually before they are two years old.
There is no treatment for RBM. Children with the condition deteriorate rapidly as all of their muscles weaken, leaving them immobile and eventually with respiratory failure.
There is little research being done about the condition or to find a cure, because most people, even most doctors, have never heard of it.
Tori’s mom, Liz Gardner, is doing all she can to bring more attention to RBM, hoping to save her daughter's life.
"She is sassy, she is smart, she is stubborn,” said Gardner.
Tori cannot move, talk, eat or breathe on her own.
"But in her mind, she is very much a six-year-old,” said Gardner.
Just before Tori turned one year old, she moved into a skilled nursing facility in Riverton called NeuroRestorative. There, she has a team of medical professionals working to care for her. They said they also had never heard of RBM before they met Tori.
"It doesn't affect your mind. You know that you can't move, and you might be frustrated and want to have the channel changed or want to be shifted in your bed, and you can't tell anyone that,” said NeuroRestorative pediatrician, Dr. Jennifer Brinton.
She said it can be tough knowing that they can only offer Tori supportive care.
“We can give you a ventilator if you can’t breathe. We can give you a chair if you can’t move. But I can’t fix the reason that you can’t do those things,” said Dr. Brinton.
Gardner said Tori's health problems started early. She was born more than four weeks early, needed oxygen and had low muscle tone. But doctors weren’t concerned because that wasn’t unusual for a baby born prematurely.
Gardner was told her daughter would grow out of it, but four and a half months later she still wasn't trying to roll over or hold up her head. They started physical therapy, but weren’t seeing any improvements.
Eventually, just before Thanksgiving, Tori got a cold. The cold grew worse, and Tori’s breathing was very labored.
“She was going shades of, kind of a pale gray color. And I knew something was wrong,” said Gardner.
She took her baby to the emergency room, where they discovered that her entire left lung had collapsed. Tori was intubated and put on a ventilator for the first time. As time went on her breathing didn’t improve.
"They gave us an option to take her home on hospice and enjoy the time that we would have with her which would have been days."
Tori’s family chose option two, a tracheostomy, which allows a machine to breathe for her. This was all happening while Tori still did not have a diagnosis for what was causing it.
Doctors went through an extensive list, checking for muscular dystrophies, as well as other gene mutation, but it all came back negative
"Her geneticist fought like a crazy man to get the insurance to cover what's called 'whole exome sequencing,'" said Gardner.
That test would check all of Tori’s genes and compare them to the mom and the dad's genes. Insurance wouldn’t cover it, but they were able to get the test done when Tori was hospitalized.
Finally, after months of negative tests and misdiagnoses, Tori's family learned she had reducing body myopathy. A rare condition caused by a single mutation of the FHL1 gene. They also learned it has no cure.
At the time the geneticist told Liz, that only six other people worldwide had that condition.
"And he handed me a packet of six or seven pages and said, 'this is what we know about her condition,” she said.
Since then, Liz has made it her mission to find others with this RBM.
"Hopefully find more kids. Because we quickly learned that with a condition this rare, research isn't put into it."
Liz was able to find five other girls in the United States with RBM, click here to read more about those girls. Their ages range from three to 22-years-old. Liz said the 22-year-old’s name is Nicole, and until COVID-19 hit, she was a college student thriving on campus, studying to be a writer.
Tori’s case of RMB is the most severe on record. Gardner said most kids with the condition start to crawl, walk, and talk like a typical toddler before they start regressing. For Tori, her condition presented so early that she never really started moving. But that hasn’t stopped her from achieving.
"She's in first grade which is crazy,” said Gardner.
Because of the pandemic, it’s too dangerous for Tori to go to school, so school goes to her. To communicate, Tori mainly uses her hands and her eyes.
"Tori has good head control. She can give us big no's, really good at no's. Yes's when she's feeling up to it,” said Gardner.
She also has a device that uses the gaze of her eyes to communicate, though she mostly likes to use that for games and music.
Liz thinks there are likely even more families out there who were misdiagnosed like Tori was.
“Her geneticist had never heard of it. So, if the doctors don't know about it, how are they supposed to diagnose it?"
Liz said now she is working to get loud about RBM, to gain more attention, research, and hopefully find a cure.
Gardner supports the Aubrey O’Sullivan Foundation, a group dedicated to funding RBM research. It was started by the family of Aubrey O’Sullivan when they found out she had the condition at three years old.
Click here to make a donation to the foundation. You can also support Tori at a carwash fundraiser on January 31st. The fundraiser will be held at the new Quick Quack car wash in West Valley City, from 3 to 6 p.m. The address is 2663 S Anna Caroline Dr. West Valley City, UT 84128.
You can also follow along Tori's journey on her Facebook page, "VicTORIous The Rare: Our Journey with Reducing Body Myopathy"