It’s a disease most people have never heard of. It’s difficult to pronounce and impossible to predict.
It’s a disease so rare, medical professionals don’t even know the cause, even though they’ve been studying it for decades.
It’s a disease Kaitlyn Seykora deals with every day. Rhombencephalosynapsis.
From her Eaton Rapids, Michigan, home south of Lansing, the 24-year-old said so little is known about her condition, it’s difficult to even discuss.
“From what I can remember, it’s when one part of your cerebellum is not fused properly where it should be,” Kaitlyn said. “The biggest problem I have with it is my head is constantly moving from side to side.”
It never stops.
“It’s been happening all my life,” she said. “There’s not really anything anyone can do. It’s normal for me now because it’s what I’m used to. For me, the main symptom is the head moving. I’m also finding I don’t have much of a filter. Whatever comes to mind, I say.”
Kaitlyn said she had visited many medical professionals in her life, but no one could find a reason behind her symptoms. She Googled her symptoms. She wandered the Internet far and wide. She suspected rhombencephalosynapsis.
Because the condition is so rare, it’s also rare to find medical professionals able to diagnose and treat the disease.
After enrolling in a research study through the University of Washington, leaders of that group suggested she contact Caleb Bupp, MD, a Spectrum Health Helen DeVos Children’s Hospital geneticist. Fortunately, this expert practiced in her home state. Less than two hours from her home.
“Before I saw Dr. Bupp, no one wanted to take me on,” Kaitlyn said.
Finally, an answer
On Jan. 20, 2020, Dr. Bupp officially diagnosed her with rhombencephalosynapsis.
“She has a very rare brain difference that she was born with,” Dr. Bupp said. “Essentially, parts of the brain that typically connect during brain development did not. This condition has long been a mystery to medical professionals as to what causes it. In fact, it is one of the top ‘most wanted’ conditions genetically where there sure seems like there should be a cause to be found, but nothing has come yet.”
Dr. Bupp and Kaitlyn both remain hopeful more answers will come as genetic studies continue to unravel mysteries.
“As the world has gotten smaller and patients, physicians and scientists can connect more easily, we can gather groups of patients with rare conditions unlike ever before,” Dr. Bupp said. “That allows for a better chance to discover things—a cause, an explanation, a treatment, a cure. Rare disease will never go away, but there is more hope than ever.”
Dr. Bupp said the first known genetic cause of rhombencephalosynapsis was recently discovered, but it only pertains to 5% of patients with the rare disease. And not Kaitlyn.
“However, that’s 5% better than before,” he said, sharing how at least 5% of patients with this condition now have an answer. “And that is cause for optimism for the other 95%.”
He praised Kaitlyn and others who perhaps someday will help medical professionals unveil the secrets of mysterious diseases.
“With time, more and more answers will be found,” Dr. Bupp said. “Patients like Kaitlyn are really the brave pioneers of medical science right now—triumphing in uncertainty and providing encouragement and support for others with rare conditions as the future becomes reality.”
In the meantime, Kaitlyn is forging her own reality. She graduated from Grand Valley State University in December, majoring in health communications.
It’s her quest in life, it seems. To understand. And to work through this reality that is her own.
She works in the mail room for the Michigan Department of Treasury. She started as a temp employee there last tax season, and is now full-time.
“It’s crazy,” she said of the tax returns rolling into the mail room during income tax season. Mounds of them. Mountains maybe.
She’s climbed them. Not the mounds of tax returns, but the proverbial mountains.
Speaking of numbers, according to Dr. Bupp, best estimates are that 1 in 250,000 people suffer from rhombencephalosynapsis.
“Symptoms vary wildly, which is not uncommon in rare diseases,” Dr. Bupp said. “That’s part of what makes it so hard—you don’t always know what to expect. In general, the findings you see with this include hair loss, learning difficulties, facial numbness, vision concerns and seizures. However, these are extrapolated from what’s known about this condition, which is not a lot, because of rarity.”
Kaitlyn’s head movement is an “unusual” presentation he said, but not unheard of.
“Perhaps it’s because of the area of the brain that is affected,” he said. “For now, she is doing as well as most patients with rare disease are—there are challenges, but she’s getting along. She is working to build a medical team that can work with her and help her as things move along. Her prognosis is good—she appears to be on the minimally affected side. There is uncertainty though, which is common in rare disease.”
‘People don’t understand’
Sitting in an Eaton Rapids coffee shop, Kaitlyn’s mom, Ann, said symptoms surfaced when Kaitlyn turned 3, although looking back there were a few early indicators.
“At 9 months old, she couldn’t lift her head,” Ann said. “It was always off to the side. She couldn’t walk at 2. At 3, she’d drop to the ground. When she would turn her head too far, she would just fall. She listed to the side. She could almost walk in circles if she didn’t pay attention. She had to keep readjusting her gait.”
Also around age 3, Kaitlyn started moving her head side-to-side. Non-stop. Like a pilot scanning for aircraft under visual flight conditions, or a lifeguard scanning a pool.
Ann begged doctors in Iowa, where the family lived at the time, to find a reason for this. They couldn’t.
Just shy of Kaitlyn’s 5th birthday, after a spinal MRI, Iowa doctors told Ann her daughter suffered from Chiari malformation, a condition in which brain tissue extends into the spinal canal.
“We’ve been asking for years why her head turns,” Ann said. “We were just told it’s nerve damage because she should have had surgery before she was a year old. The head turning didn’t start until age 3.”
The family recently learned that’s a symptom of rhombencephalosynapsis.
“Her fine motor skills have always been an issue,” Ann said, sharing additional symptoms such as throat clearing and anxiety.
Sitting on a black leather couch next to her mom, sunshine streaming through the coffee shop windows, Kaitlyn chimed in: “And a lot of teeth issues. I have horrible teeth. Last year alone I had 15 or more fillings.”
Despite the head turning, Kaitlyn is able to drive. And despite her rare disease, she leads a normal life—playing with her rescue dog, Dice, watching TV and sipping lemonade at the coffee shop.
“People don’t understand rare disease,” her mom said. “They’re afraid they can catch it when they hear the word ‘disease.’ Because of the head turning, a lot of people labeled her as special needs.”
Kaitlyn, however, excelled in school.
“Anything we handed to her she passed with flying colors,” Ann said. “But we would have to fight in school to keep her out of special ed because of the head turning.”
Dice greeted the family when they returned home from the coffee shop on a sunny mid-winter day.
They both pet the pup and fed him chicken treats in front of a sign on the wall that reads: “Be stronger than your strongest excuse.”
That’s what the family believes. It’s what they live. Every day.
“We never let her use (her disease) as an excuse,” Ann said. “Everyone has something. In some people, you can see it. In some people, you can’t. She’s actually lucky she has it on the outside. The people that have it on the inside, people don’t know.”
Kaitlyn is smart. She’s capable. And her family knows it.
“Don’t let people tell you you’re disabled,” Ann said. “You’re only disabled if you believe you are. She’s always found a way to do things. She’s tenacious.”
Ann said there’s no magic pill to change her daughter’s life situation.
“Some of it we have to accept… it is what it is,” she said. “Somebody once asked me if I was mad at God that he gave me a kid with a rare disease. I said, ‘Are you kidding me? I’m fortunate. He trusted me with her.'”