Gabby Gingras was about a day old when a nurse pricked her heel to draw blood — a sting that makes most newborns howl. Gabby slept through it.
What a good baby, her parents thought.
When Gabby teethed, she gnawed on her fingers until they were bloody. One day, as her father massaged her gums with his finger, she bit him, hard. When he reflexively yanked his finger back, one of Gabby’s teeth came with it. She didn’t cry.
When it comes to pain, she never does.
An extremely rare nerve disorder called hereditary sensory autonomic neuropathy Type 5 keeps pain sensations from reaching Gabby’s brain. Gabby, now 3, simply does not feel injuries that would make others cry out.
That might not sound so bad to anyone who has ever stubbed a toe. But it’s ruinous for Gabby’s health.
Pain is what keeps a child from poking her finger straight into her eye, as Gabby has done, repeatedly. Pain is why we limp to favor a twisted ankle, so it can heal. Pain teaches children to recoil from a hot stove.
When Gabby was teething, “she would chew on her fingers until they were bloody,” her father, Steve Gingras, recalled. “She would chew on her tongue like bubble gum.”
Without the pain that could prevent it, Gabby has injured herself over and over.
Injury after injury
She broke several teeth by chewing on plastic toys before her parents knew what her condition was. The ones that didn’t break were pulled or lost when doctors removed part of a broken jaw that had been weakened by a bacterial infection.
Gabby wears her “glasses” 24 hours a day, and her right eye has begun to heal now that she keeps her fingers out of it.
But the goggles were too late for her left eye. Cataracts ruined it, a side effect of medication Gabby took for the scratches on her cornea. It has swelled to about twice the size of her right eye, where her vision has been measured at 20-300.
Gabby’s condition baffled her doctors before it was diagnosed.
Parents search for answers
As she continued to hurt herself during her first year, her parents decided that they had just as good a chance of figuring out what was wrong with her as her doctors did. So while Gabby visited neurologists, Trish, an editor at a trade journal before she quit her job after Gabby’s birth, started her own Internet search for a name for her daughter’s condition.
She found an article in a dental journal about treating symptoms similar to Gabby’s. The children described in the article had bitten their fingers and tongue, just like Gabby. It described five types of hereditary sensory autonomic neuropathy. The first four included symptoms that Gabby didn’t have, such as mental retardation.
Type 5, however, blocked pain sensation, but didn’t cause mental retardation. Type 5 sufferers also retain their other nerve senses — heat, cold, vibration and the ability to perceive movement, which is how you know your foot just pressed on the gas pedal even though you can’t see it.
A nerve biopsy confirmed that Gabby, then just 12 months old, had HSAN Type 5. Steve and Trish finally knew why their daughter was hurting herself.
Very few have Type 5
The Type 5 variety is so rare that Dr. Peter Dyck, a neurologist at the Mayo Clinic, estimates that 25 people in the United States have HSAN Type 5 — taking into account those who have not been diagnosed. Steve and Trish know of only one other person in this country who has it.
There are no support groups, no how-to books for parents, little medical research. And no cure.
Keeping their children as healthy as possible is the only option for parents of children with HSAN, Dyck said.
He was part of a team that classified the five types of HSAN in 1983. One girl he studied held her hand on a hot stove until her mother smelled the burning flesh and removed it. The same girl poked a pencil through her cheek.
In other ways, Gabby is like any other 3-year-old. She hops out of a preschool minivan with purple paint smeared from her elbow to her wrist from a butterfly she painted. She loves the “Lion King” movie and books. On request she’ll roar like Mufasa, or mimic Simba’s soft growl.
While playing with her 7-year-old sister, Katie, behind their house in rural central Minnesota, she points out that the crossed chains of her swing look like the letter X.
Potential for gene therapy
Dyck said that perhaps someday HSAN can be cured through gene therapy, where healthy genes would replace the mutated ones that cause the disease. But a breakthrough, if there is one, could take decades.
So Steve and Trish rarely let Gabby out of their sight. Every fall brings a thorough check of her knees, or an inspection for a cut or break that they might not have noticed.
The Gingrases recently visited another American HSAN patient, a 24-year-old woman in Sioux Falls, S.D., who they said was the patient described by Dyck in the 1983 article.
The meeting finally allowed the Gingrases to compare notes with another parent who had a child with the disease. But the meeting was difficult, too.
The woman is in a wheelchair now, after losing both legs to knee infections because as a girl she had hurt her knees but didn’t know it. She lost her first leg at age 4.
“It’s discouraging,” Steve said. “It’s like seeing Gabby in a wheelchair.”