At first, seven-year-old Isabel Kerr’s problems seemed a small thing. Wasilla parents Gordon and Tara Kerr thought maybe their child was just a little clumsy. Gordon remembers wondering years ago if maybe it was “a vision thing” that caused his daughter to sometimes inexplicably stumble.
Only later would the Kerrs start to put to the pieces of Isabel’s symptoms together. Only later would they learn of the rare, degenerative, genetic disorder with which Isabel had been born. Only later would they discover their daughter was one a handful of children living with among the worst of rare childhood diseases in a country where an estimated 25- to 30-million people live with rare diseases.
“This estimate has been used by the rare disease community for several decades to highlight that while individual diseases may be rare, the total number of people with a rare disease is large,” according to the Genetic and Rare Diseases Information Center.
Many of these diseases are manageable. Cindy Abbott from Willow, a community just up the George Parks Highway from Isabel’s home, suffers from Wegener’s Disease and yet managed to summit 29,029-foot Mount Everest, the world’s tallest mountain, and complete the 1,000-mile Iditarod Trail Sled Dog Race, a statistically even harder challenge.
Wegener’s is estimated to affect 8 to 10 of every million people, according to a study published in 2014 in the journal of Intractable & Rare Disease Research, and the onset of symptoms doesn’t usually began until midlife or later. The disease is deadly, but treatments are steadily improving.
Isabel, unfortunately, has a disease far more rare and even more deadly: giant axonal neuropathy or GAN is it simply known. First identified in 1972, the disease remains so seldom diagnosed its rate of incidence is unknown. The Rare Disease Report could in 2016 find only about 50 children worldwide suffering from GAN.
Sadly better documented is the prognosis. The disease causes neurons to die and neurological functions to begin to decay.
“Most children have problems with walking in the early stages of the disorder,” according to the National Institute of Neurological Disorders and Stroke. “Later they may lose sensation, coordination, strength, and reflexes in their arms and legs. As time goes on, the brain and spinal cord may become involved, causing a gradual decline in mental function, loss of control of body movement, and seizures. Most children become wheelchair dependent in the second decade of life. Some children may survive into early adulthood.”
Isabel is, at this time, coping well, her father said. Children are blessed with a worldview that doesn’t extend much beyond today and tomorrow.
For her parents, it is harder.
“For us,” Gordon confessed Monday, “it’s, it’s tough. It’s weird. It’s a fatal disease. We just keep trying to focus on what we can do. We’re trying not to focus on thing that make you want to shut down.”
As with many rare diseases, Isabel’s dragged on for a some time before it was finally identified. Now 8, she was five when the Kerr’s first noticed something wrong.
“We were trying to get her to wear flip-flops,” Gordon remembered, “and she wasn’t able to keep the flip-flops on.”
She tried hard, he said, but just couldn’t do it.
“Then we realized over time that she really didn’t have any feeling in her feet,” he said.
That began what would become a long round of visits to doctors and hospitals. Isabel’s pediatrician could find nothing wrong. A neurologist was consulted. More testing was done. There was nothing definitive.
The eventual conclusion, Gordon said, was that “we’ll kind of keep an eye on it.
“Our doctors here had no idea.”
Isabel started physical therapy to strengthen her feet. The physical therapist noted some lack of reflexes in her legs, but “at that point, we weren’t really worried about it,” Gordon said. “There were never any alarms.”
But the PT didn’t seem to be helping Isabel, either. She wasn’t getting better. She was ever so slowly getting worse. More testing followed. Eventually a genetic screening was suggested.
“We decided to do that,” Gordon said.
The first report came back concluding Isabel was suffering from “chronic mucocutaneous candidiasis” or CDC, a rare but treatable immune disorder. But the diagnosis was promptly changed.
Gordon remembers the date well. It was Oct. 13, 2017, when the doctors told the family that “it’s actually GAN.
“At the end of every sentence after that it was, ‘I’m sorry. I’m sorry.”
The world turned suddenly upside down for the Kerrs. They struggled. For the first two months, Gordon admitted, he could barely function.
“I was trying to stay active and productive,” he said. “I kept working, but I couldn’t smile. It was hard to relate.
“It’s such an interesting thing. Everything changed overnight, but noting changed.”
Isabel was still Isabel, a healthy and still active girl trying to stay healthy and active. She went on being a kid. The dance and gymnastics lesson continued. The Kerrs are committed to helping her stick with them as long as they can.
But they see the future, too.
The Kerrs are now focused on seeing to it the family dog, Leonidas, is trained as a service dog to render support for Isabel as her coordination deteriorates. Leo appears the closest thing to a miracle the family has encountered up to this point.
He entered the lives of Isabel and her sister, Lily, long before Isabel was diagnosed.
“His breeder said he was very calm as a puppy and that she thought he would be a good fit for two little girls,” the family wrote on a GoFundMe page. “She couldn’t have been more right! As he’s grown, Leo has shown amazing maturity and empathy towards Isabel’s needs. He has been very calm, eager to learn and makes a quick study of any new tricks or tasks he’s taught.
“He was recently evaluated by a trainer and deemed a good candidate to learn how to be a service dog for Isabel. We couldn’t be more excited! Isabel is still walking – largely unassisted – but it can be tricky for her to run outside like her friends do or to walk in the ice and snow that covers the ground in her home state for 6-8 months of the year.
“It is these challenges that make a service dog seem like a good option, but unfortunately, that process typically takes a couple of years and requires funding in the neighborhood of $30,000 or more. If Leo can be trained to do the things Isabel will need, she’ll have a service dog much sooner and less expensively than would have been possible otherwise.”
The family is hoping Leo can be trained at a cost of less than $8,000. Over the past month, they’ve been able to raise $2,225 of a hoped for $7,600 at GoFundMe.
The family’s biggest struggle is to stay hopeful, Gordon said, but they feel in some ways blessed. As they note on the GoFundMe page, “Isabel is a happy, spunky, spirited, 8 year old who doesn’t let anything slow her down. The fact that she can still walk is a blessing that has given us so much hope. Hope that she has a milder case of the disease. Hope that her progression will be very slow. Hope that she will continue to be able to ride her bike for years, to walk to the podium at her graduation, and even down the aisle at her wedding. Hope that a treatment, or even a cure will be found before she loses her mobility.”
In March, when the family traveled to Maryland to consult with experts on GAN, they met another girl Isabel’s age far worse off.
“She can’t really stand for more than three or four steps,” Gordon said. “It was both wonderful and disheartening at the same time to see these other kids.”
It was a reminder that kids don’t really worry about the future. They just charge ahead into it, taking every day as it comes and doing their best. They avoid the curse of maturity warning them to beware of trouble on the horizon.
Gordon and Tara can see what’s coming. Gordon admits his reaction was visceral on meeting other children with GAN.
“Oh crap,” he said. “This is real. This is what’s coming. It’s not something I talk about a lot. We’re in a fight here, but we’re also trying to figure out what that fight is.”
He clings to the knowledge that there is always hope. Medicine advances daily. Fate takes strange turns. People get lucky. A prognosis is a forecast, not a guarantee. Forecasts are sometimes wrong. Other families of GANs children have been experimental gene therapy treatments.
“There’s so many miracles out there that have happened with so many people,” Gordon said.
He hangs on to the idea that maybe there is one more coming with Isabel’s name on it.