HERMISTON — The hazel eyes of Providence Grace Rector dart back and forth behind thick lenses in round red frames. Her face constantly twitches, but otherwise it is without expression. Her arms are constantly moving, unintentionally. Her little legs are strapped at the ankle to the footrests on her wheelchair.
Providence means “protective care of God,” which is reflected in the strong faith of her parents, Miranda and Jason Rector, but they know a contribution from science will be needed to find the medical miracle their daughter needs.
And now, two-and-half years after their daughter was diagnosed with Early Infantile Epileptic Encephalopathy-37 (EIEE-37), the Rectors and other parents like them are hopeful — and optimistic — that a potential study of gene replacement therapy could one day lead to a better quality of life for their children.
In August, with the help of Rare Village Foundation, a fundraising platform for families of children with rare diseases, three mothers — one from Croatia, one living in the United Kingdom and one in Colorado — established a nonprofit called “Finding Hope for FRRS1L” (pronounced “frizzle”). In less than 24 hours more than $100,000 was raised, and within five days the total had doubled.
Miranda, who is enrolled Chippewa from the Turtle Mountain Band of Chippewa Indians of North Dakota and also Puerto Rican. People in Puerto Rico, where several children with EIEE-37 live, have given more than $50,000.
What FRRS1L is
FRRS1L is the name of a protein-coding gene contained in all cells of the brain. It helps send messages between cells. The gene disorder, which results in loss of function for that gene, is a mutation triggered by the combination of each parent’s damaged DNA. The disorder produces epilepsy, progressive dyskinesis (abnormal movements), developmental delay, poor muscle tone, brain volume loss, and gradual loss of responsiveness to the environment.
Children with this gene disorder develop, albeit with delays, until about ages 1-2 when they begin having seizures that cause regression. Within months, or even weeks, children lose their ability to move, speak, eat orally, and control their head and their body. Babies with the FRRS1L gene disorder grow up to be wheelchair bound, non-verbal, tube-fed and in need of constant care.
For Providence, it took just three months to go from a crawling baby to one that is trapped in a body overtaken by seizures and involuntary movements.
In August, the three women helped create the fundraising page www.FRRS1L.ORG and mobilized other families. The exact number of children in the world living with FRRS1L gene disorder is unknown, but in a Facebook support group, parents of 14 FRRS1L children have started to raise funds. Miranda Rector is helping the group with public relations.
The initial goal was $100,000 in the first month, the amount needed by Dr. Berge Minassian, a gene therapist at the University of Texas-Southwestern, to compose a team of researchers.
Minassian told parents he would investigate possible treatments, but he advised them that it would require at least $400,000 to fund the project up to clinical trials.
The campaign was launched at 6 a.m. Aug. 22. By 6 a.m. the next day, less than 24 hours after the fundraiser began, that first $100,000 had been committed. Within five days, on Aug. 27, donations totaled more than $200,000 and as of Sept.1, some 649 donations totaled more than $281,000.
Miranda said that one of the first contributions was a $10,000 pledge, but every “$20 donation” is appreciated. The largest donation has been $20,000.
“All we want to do is find a cure for these babies,” she said.
Meanwhile, Minassian has contacted a group of scientists in Germany who recently completed a promising study specifically on FRRS1L gene replacement therapy in mice. Minassian was optimistic and the parents were ecstatic.
Providence turned 4 on Aug. 4. Born without complications, at 6 months old she was unable to sit on her own or hold her head up. She was considered developmentally delayed.
Miranda started a Facebook album and Instagram account for Providence to track her medical journey, which has included eight hospital stays. Twice this spring she spent 16 and then 17 days at Oregon Health & Sciences University in Portland.
The infant was improving, albeit slowly, and by the time she was 1 year old, Providence was supporting herself sitting, her head control improved, she was eating softer foods like steamed veggies and she was army crawling around the Rector’s home in Hermiston.
“That first year she was crawling, eating toast, blowing raspberries. She laughed and would grab and pull herself up,” Jason said.
During a month-long trip to Colorado just after Providence turned 1, her aunt, a former special needs and preschool teacher, noticed the baby staring off into the distance. She suggested Miranda and Jason get her tested.
At Sacred Heart Children’s Hospital in Spokane, an MRI came back normal, but an EEG showed Providence was having “absence seizures,” which cause lapses in awareness. They are a type of generalized onset seizure, once referred to as petit mal seizures, meaning they begin in both sides of the brain at the same time. They begin and end abruptly but can last up to 30 seconds — so brief they sometimes are mistaken for daydreaming and may not be detected for months. An epilepsy medication, Keppra, was prescribed with hope to help, but after a few weeks seizures progressed.
Doctors ran another EEG, did a lumbar puncture and more MRIs. They poked and prodded Providence. They did what seemed to be an inordinate amount of bloodwork.
With a second medication, ONFI (a benzodiazepine used along with other medicines to treat seizures), Providence showed improvements.
“I thought we were on the right track,” Jason said. “Then the seizures happened again, and it all went downhill from there.”
Providence started struggling to drink from a bottle. Doctors — and the Rectors — realized even higher doses of ONFI weren’t working.
“If anything, Providence started becoming more lethargic, sleepy and like she was in a haze,” her mother said.
The parents consulted a feeding therapist at Kadlec Medical Center in Richland, Washington, and in December, just before Christmas, Providence was admitted to OHSU for a gastrostomy-jejunostomy tube, which passes through the abdominal surface, into the stomach and down into the second part of the small intestine.
The family returned home, but on Christmas Day, Providence was readmitted to OHSU with more seizures and respiratory distress. Over the next four months, she returned to OHSU four more times for the same issues.
On Feb. 19, 2019, Providence was diagnosed with EEIE-37. By March, she had totally regressed. She had lost all physical abilities.
Providence no longer could play with her toys, move her arms or legs on purpose, and she had no head control. She was eating only through the J-G tube. She also developed strider and laryngomalacia, essentially losing muscle tone in her throat.
Medical equipment started stacking up. She was prescribed a Nebulizer, electric suction machine, ventilator for CPAP use, medical chairs, oxygen tanks and more.
In May 2019 she had surgery for a gastrostomy tube, a more permanent feeding tube that connects directly to her stomach, and a supragottoplasty to remove tissue from her throat to help reverse the strider and laryngomalacia.
After the surgeries, Providence further regressed. Among other things, she has cortical vision impairment, meaning she has difficulty controlling her eyes. Her vision is currently around -15 corrected to a -12. She has been on seven different anti-epileptic medications; none have completely stopped the seizures from breaking through.
So now Providence relies on her parents for everything.
Miranda and Jason, both 33, didn’t know what normal was when Providence was born.
“We heard comments … ‘she’s not holding her head up; you might want to get her checked out,’” Miranda said. “We took her to a pediatrician who told us some kids take longer than others. ‘Give it six months,’ and that’s what we did.”
Miranda and Jason questioned their parenting skills.
“We thought it was our fault … we didn’t put her on her tummy early enough or get early intervention soon enough,” she said. “Now four years into this, there’s nothing we could have done that would change where she is right now.”
“I specifically remember doctors telling us, ‘Her condition is progressive. The studies say that quality of life is unknown but not good,’” Miranda said,noting that most children with EEIE, also known as Otahara Syndrome, don’t live past the age of 2.
The chance that gene replacement could change Providence’s quality of life is what her parents hope for.
“There are no words,” Miranda said. “To even dare fathom the idea that our daughter might have somewhat of a normal life. The possibility of her walking, even holding her head up on her own. Even a fraction … that would be a huge blessing that could expand her quality of life. That’s been the prayer since she started regressing.”
“This new gene therapy could be the light at the end of tunnel,” Jason said, “even if it could just stop the seizures and let her smile.”
Successful gene therapy could also save their marriage.
“It’s been rough on our family,” Miranda said.
For the last six months, Miranda and Jason have seen each other as little as 15 minutes a day — from the time she returned home from work at 1:30 p.m. to when he had to leave at 1:45 p.m.
“We literally live on a schedule, her schedule,” Miranda said.
Miranda doesn’t hide the fact the relationship between she and Jason has been strained. She noted there are 84% more divorces for parents of special-needs children.
Jason agreed with Miranda’s assessment that their marriage is “on a thread.”
“I don’t know the future,” he said, “but it’s not uncommon.”
If gene therapy works, that would be fantastic. If it doesn’t, the Rectors know Providence’s future – maybe not their own.
“We love Provi exactly where she’s at right now. Our love is vast. If this is how it will be for the rest of her life, we’ll love her no matter what,” Miranda said.
In the meantime, with funds being raised and a doctor eager to find a cure, Miranda and Jason Rector will be hopeful. “I know there’s a child in there who knows what’s going on,” Miranda said.
“She’s just stuck in a body that doesn’t respond.”