This article originally appeared in the Oct. 20, 2015 issue of The Press Enterprise. View clip online.
As far as medical experts know, 3-year-old Raelynn Hoffa of Temecula is unique in the world.
And it’s a lonely place to be.
A mutated gene is to blame for the seven strokes she has suffered since age 8 months. Not another person has been known to have the same issue.
“You don’t wish this on any child,” said Magon Hoffa, Raelynn’s mother. “But you do wish there was at least one other child out there to connect with.”
To raise money to pay medical bills, the family is holding a pancake breakfast on Oct. 24. They also host an online crowdfunding campaign.
Yet Hoffa said raising money is a secondary goal to finding doctors, researchers, families — anybody — who can help their youngest daughter regain her health.
When Raelynn Hoffa’s first stroke was diagnosed in April 2013 at Rady Children’s Hospital in San Diego, Magon and Cory Hoffa, Raelynn’s father, didn’t know children could have strokes.
Ischemic strokes such as Raelynn’s, caused when blood flow to the brain is obstructed, affect about 2,500 children annually in the United States. Raelynn is among the very few of these children whose strokes recur multiple times.
What makes her case unlike any other is the cause of her strokes: a mutated smooth muscle gene that affects, among other bodily processes, her blood vessels’ ability to maintain sufficient blood pressure.
It took over two years for Raelynn’s parents to learn this much. Doctors at Rady couldn’t explain why her blood vessels were too narrow, or why surgery to improve blood flow to her brain didn’t stop the strokes. Desperate, Magon Hoffa set out in early 2015 to find answers.
She found help in Dr. Heather Fullerton, a pediatric vascular neurologist at UC San Francisco Benioff Children’s Hospital. After assessing Raelynn in May, and following an emergency hospital stay through June during which Raelynn suffered two strokes simultaneously, Fullerton began to understand the little girl’s condition.
Fullerton noted Raelynn had symptoms like those in a handful of children with a smooth muscle gene mutation. Yet her blood vessels differed in structure. Sequencing Raelynn’s genome revealed a mutation in a separate, but related, gene. Sequencing her parents’ genomes ruled out heredity as a culprit.
“She’s the only kid that we know of who has this,” Fullerton said.
Fullerton now knew what was behind the toddler’s strokes, but had to devise treatment until further study. Based on what she knew about kids with similar gene mutations and about Raelynn’s stroke history, she saw to it that Raelynn’s blood pressure be maintained through a regimen of hydration and medication.
Under Fullerton’s regimen, Raelynn remains stable. The strokes in June have left her unable to control her neck or sit up by herself. She can’t eat, walk or talk, though her mother said her condition improves every day with therapy.
Meanwhile, researchers at UCSF, the University of Texas at Houston, and perhaps soon the National Institutes of Health are studying Raelynn’s case.
And her family fears that on any day at any time, another stroke could strike.
“It’s hard not having any other person in the world to talk to about this,” said Magon Hoffa.
That void inspired Magon Hoffa to look into establishing the Rae of Hope Foundation, so families like hers can support one another.