Parker Atchley is your typical four-year-old in many ways. He’s shy at first but usually opens up after he gets to know you, he loves anything with wheels, baseball and splashing in water, and he sticks pretty close to his mom, but a grandma will do if mom’s not available.
He’s an adorable, blonde boy with dark-rimmed glasses and a stare that makes you feel like he’s thoroughly assessing you but that also melts your heart.
He also is suffering from a rare disease—or at least a disease that only a few have been diagnosed with so far.
Sitting on the floor of her living room in southeast Springfield, Parker’s mom, Kathryn Atchley, said they got a diagnosis in January: KIF1A-related disorder. It was a long journey to get to that point.
"When he was around one, we realized that something was off. We weren't sure. The director of the day care he was going to actually called a meeting with us to talk about some concerns because he wasn't walking at that point. He had just started traversing around furniture," she said.
His balance was also off. Kathryn and her husband, Tyler, thought maybe it was an ear or eye problem. They took Parker to a pediatrician, an ear, nose and throat doctor and a neurologist. All tests came back normal. So they enrolled him in physical therapy. As he got older, they held onto hope that Parker would get better, but he didn’t and they grew more and more frustrated.
"It started getting really worrisome when we realized that he was losing skills. Two years ago he used to be able to stand up on his own, and he can't do that anymore. He was taking nine steps at a time, and he can't do that anymore," said Kathryn.
The Atchleys took Parker to a second neurologist who recommended genetic testing. They finally got the diagnosis that Kathryn said changed everything.
"Cause then we realized it wasn't just a rare disorder, it was neurodegenerative," she said.
They no longer clung to the hope that Parker was just delayed and that physical therapy could help him catch up.
Dr. Wendy Chung, a physician with Columbia University in New York, said KIF1A-related disorder is a genetic condition, caused by a mutation in the KIF1A gene, which was identified fairly recently—in the last 10 years or so. It affects the brain and nervous system and, while some with the disorder are affected mildly, others, including Parker, can have severe disabilities. Those include muscle tightening, spasticity and difficulty developing. The most disheartening thing about the condition, she said, is that it’s degenerative.
"That is that children take steps back. They lose abilities. They lose vision," said Dr. Chung
The first piece of advice given to the Atchleys by the neurologist was to go online and find other families affected by KIF1A. Kathryn said the doctor had never heard of the disorder before.
"He was very upfront and honest and said, you know, 'I'm learning this as you guys learn it,'" she said.
She found a Facebook support group for families with children who have KIF1A-related disorder, and, at the time, there were only 20 families in the group. It’s since grown some as more kids get diagnosed through whole genome testing.
Dr. Chung said she’d venture to guess that the vast majority of people with KIF1A-related disorder don’t even realize they have this condition.
"There are a lot of individuals out there that have symptoms who just don't know what they are. There's powerful new sequencing and genetic technology to figure that out, and, you know, I think that's what people like me are trying to do is make sure patients get access to that type of testing," said Dr. Chung.
Whole Exome Sequencing, a fairly expensive test that can be cost prohibitive, isn’t covered by all insurance companies.
But Dr. Chung said other tests on children to get a diagnosis, such as MRIs and brain scans, are also expensive and don’t always result in an answer. And she said having a diagnosis is valuable at many levels.
"Certainly I think for the families just having an answer about what this is and what to expect and what they can do to keep their child healthy and learning and, you know, improve their quality of life or maintain their quality of life, I think is huge if you ask any of the families. I think the other portion of this is that you don't waste your time doing things that are not necessary," she said.
According to Dr. Chung, more diagnoses of KIF1A-related disorder will hopefully lead to more research to find a cure.
Parents of kids with KIF1A-related disorder, including Kathryn Atchley, are working to raise awareness about the condition and money for research.
"You know, in connecting with other families I think there's a lot of us parents that, 'I don't want to sit by and do nothing and just kind of let the medical community figure it out,'" said Kathryn.
Dr. Chung has taken KIF1A parents under her wing and tells them she’s their Sherpa—their guide through a frightening diagnosis up what she calls a large mountain as they try to seek treatment for their children. Currently, treatment is supportive and consists of things like physical therapy, getting seizures under control and helping patients maintain their mobility.
Dr. Chung calls herself an optimistic person and is hopeful a cure will be found one day, but she doesn’t know if it will be five, ten or twenty years down the road. She also calls herself a realist and said scientists are just beginning to understand KIF1A-related disorder. But she knows that scientific knowledge, especially in neuroscience is growing much more rapidly than ever before.
"So I'm confident that treatments are going to be available in the future. The question though is, you know, how quickly can we accelerate that? You know...is the future going to be 20 years off? Can we accelerate it to be five years off? And that, I think, is still fundamentally unknown," said Dr. Chung.
After the diagnosis, Kathryn said they began adjusting their hopes and dreams for their son. She couldn’t look at Parker without crying.
"And one day I was sitting at the coffee table playing with him, and he trailed tears down my face, and I realized that I was really robbing us of our present with Parker," she said.
Kathryn, who calls herself “an optimist in training,” doesn’t want to stand by and let the disease take away the progress Parker has made. She wants to do all she can to help find a cure.
"I have to get people to care about Parker and the rest of these kids if they're going to have any hope of finding treatment or a cure," she said.
Dr. Chung said funding is needed to support research on genetic disorders like KIF1A. You can find out more and donate at kif1a.org. Read about the Atchley family's journey with KIF1A-related disorder on Kathryn's blog.