For the first 6 1/2 years of her life, Ruby Bond was like any other happy, healthy kid. Then one summer evening in 2014, Ruby’s mother noticed she was having trouble sounding out words in a homework assignment; her progress learning to read had stalled.
When her mother, Joy Raccagno-Bond, spelled a word aloud, however, Ruby was quick to pronounce it properly — indicating that she was struggling to see the letters.
Not long after, Ruby’s balance started to give way. At school, she had to lean on classmates to keep from toppling over. It was undeniable: Something was wrong.
“When you have a kid that every day is getting weaker and sicker, that’s tough,” Raccagno-Bond said.
Yet it would take a year and a half — and dozens of doctors’ visits — to figure out what was wrong.
‘Just a clumsy kid’
Doctors offered a handful of explanations for Ruby’s symptoms. More than one clinician, for example, suggested Ruby simply was pretending to have vision problems because she wanted glasses like her younger brother, Elio.
The Bonds kept searching, and seven months and a handful of doctors’ appointments later, Ruby had a diagnosis of optic nerve hypoplasia. One in 10,000 people is born with this condition, which causes poor vision due to underdevelopment of the eye’s main nerve.
Ruby’s vision continued to worsen, however. That didn’t jibe with the diagnosis, because the sight of people with optic nerve hypoplasia doesn’t deteriorate over time — in fact, vision sometimes improves during early childhood. She was also falling more and more.
The Bonds saw bone and brain specialists, but none offered a satisfying answer.
“They said she was just a clumsy kid,” Raccagno-Bond said.
Then a physical therapist at Ruby’s school noticed her balance was rapidly worsening, and the Bonds went straight to the emergency department near their home outside St. Louis. Ruby was admitted to the hospital’s neurology ward, where she underwent a battery of tests, from blood draws to imaging to an electroencephalogram, which detects the brain’s electrical activity.
Doctors thought that Friedrich’s ataxia, an inherited brain and nerve disorder that causes balance problems, might explain Ruby’s symptoms, but they weren’t sure; there is no cure for the disease.
Back at home, Ruby continued to struggle, her hands soon becoming “unusable,” Raccagno-Bond said. Ruby’s eyes also darted back and forth, an involuntary movement known as nystagmus.
“She couldn’t feed herself, buckle seat belts, or hold a pencil,” Ruby’s mother said. And with 20/500 vision, Ruby had become legally blind.
One last test, and an answer
The turning point came in January 2016, when Ruby saw Dr. Paul Golumbek, a pediatric neurologist at Washington University in St. Louis.
Golumbek was first struck by the progressive weakness of Ruby’s arms and legs. These symptoms suggested a so-called demyelinating disease — a condition in which the insulation around nerves is destroyed, slowing down electrical signals.
A nerve conduction study told a different story. The issue lay in the nerves themselves, it turned out, not in the lining. And the problems with nerve conduction were worse in Ruby’s arms than in her legs, which was “a funny pattern” that helped the doctor come up with a list of possibilities.
“The unusual clues are the ones that really help you make a diagnosis,” Golumbek said.
The day after the doctor met Ruby, he searched a colleague’s online database of neurologic conditions, perusing for diagnoses that might explain her test results and constellation of symptoms.
After only an hour on the website, at the top of Golumbek’s list was Brown-Vialetto-Van Laere syndrome (BVVL), an extremely rare genetic disorder the doctor had only read about. The disease affects the body’s transport of riboflavin, also known as vitamin B2, which is found in fish, dairy products, and leafy green vegetables.
In BVVL, “the brain is starving for this vitamin,” Golumbek said. Only about 100 cases of the disorder have ever been diagnosed.
BVVL was an exciting possibility, Golumbek said, because most other disorders that could cause Ruby’s vision and balance problems are untreatable. Yet with mega-doses of vitamin B2, it could be possible to slow Ruby’s decline or even stop it altogether. And the solution was simple: Riboflavin is available without a prescription, and it isn’t toxic in large quantities because the body excretes what it doesn’t use.
Golumbek called up the Bonds and told them about his suspicion, and about a simple solution that might help.
“I said, ‘This could be what it is,’” he said. “‘Go buy whopping doses of riboflavin and have her start taking it.’”
The next week, Ruby underwent genetic testing. The Bonds finally got their answer: Ruby had a mutation in a gene involved in riboflavin transport.
Grateful for an answer
After starting the vitamin, Ruby’s strength and eyesight leveled off, then began to improve. Remarkably, she’s regained 20/20 vision and can use her hands and arms to do more of the things she loves, thanks in no small part to a team of dedicated therapists.
“Little by little, I noticed her handwriting was improving,” said Raccagno-Bond. “She had loved to draw, but then stopped because she couldn’t use her hands. But soon I noticed her using coloring books more.”
It’s more than the Bonds or Ruby’s doctors ever could’ve expected. The nerve damage in BVVL is often permanent, and even among people with this extremely rare disorder, Ruby is unusual because her hearing has been unaffected. Many sufferers of the disease, which doesn’t affect intelligence or cognitive abilities, require a cochlear implant.
“Our story is not typical of kids that have this,” said Raccagno-Bond, who keeps in touch with other families worldwide with the condition via a Facebook group. “Her doctors would say it’s a miracle.”
Ruby’s younger brother, Elio, is 6 years old. After Ruby’s diagnosis, he, too, tested positive for a gene underlying the disorder. He takes a huge dose of B2 daily, and the Bonds hope that because he started the supplement earlier on, he’ll have less nerve damage than his sister.
As for Ruby, she’s not quite sure how she feels about having such a rare genetic disease.
“Sometimes I feel like I’m weird, and sometimes I feel upset, and sometimes I just feel special,” said Ruby, now 9 years old and entering fourth grade.
The Bonds are grateful that, at long last, they have an answer.
“We were in a pretty hopeless place,” Raccagno-Bond said. “It gave us hope.”
There’s no way to predict how Ruby will be a few years down the line; vitamin B2 isn’t a cure. So the Bonds try to focus on each day as it comes — and on the positive side of every situation. Ruby seems to embody this attitude most of all.
“I once was in the hospital for three days, and I got a lot of presents,” she said. “Except for the shots, it was the best day of my life.”
Allison Bond is a hospitalist at Massachusetts General Hospital. She’s not related to Ruby Bond’s family. If you have dealt with a diagnostic puzzle that has been solved, either as a caregiver or a patient, please email Allison at [email protected]