Liam’s favorite subject in school is science.
The bright and smiley 14-year-old said he loves the idea that, “you can combine different elements and create a new one.” Born with a rare genetic disorder, Liam’s progress in life has required the perfect combination of necessary elements to help him be successful too. His mom, Melissa, said one of those elements was finding Shriners Children’s.
Looking for Answers
From the time he was an infant, Liam’s parents noticed physical differences, especially around the time he started to walk. “He would fall every five minutes or so,” Melissa said. “The disorder robs him of his balance. His muscles are very stiff, so he couldn’t move his legs correctly. He began toe-walking. He wasn’t able to dress himself because of his limited mobility.”
It wasn’t until Liam was 5 when his parents were able to get answers about his condition. They took him to Shriners Children’s Boston, which specializes in burn care. Although the hospital could not treat Liam’s condition, they were able to help make connections for his care at Massachusetts General Hospital in Boston.
“The team at Shriners in Boston sent Liam to Mass Gen to see an orthopedic doctor,” Melissa said. “They saw Liam’s symptoms, but weren’t sure what was causing it. We were able to work with a panel of 12 neurologists and get genetic testing.”
The testing uncovered that Liam has KIF1A associated neurological disorder (KIF1A), a rare neurodevelopmental and neurodegenerative disease caused by mutations in the KIF1A gene. Symptoms of KIF1A often appear at birth or in early childhood, but the rarity of the disorder makes diagnosis difficult.
What is KIF1A?
KIF1A is so rare that there are only about 550 confirmed cases in the world, and of those cases, there are more than 100 different mutations of the gene. As of now, Liam is the only person in the world identified with the type of mutation he has. Because of the various mutations, KIF1A affects each person differently. For Liam, the disorder causes stiffness and atrophy of his muscles. He deals with some cognitive impairment and is monitored for atrophy of his optic nerves.
If it weren’t for Shriners Children’s, we may have never gotten the answers we needed about Liam’s condition.
Staying Connected with Shriners Children’s
Thankfully, when the family needed to move, they were able to stay connected to Shriners Children’s for Liam’s care. “Three days after we got the results of our genetic testing, we moved to North Carolina and were able to establish care at Shriners Children’s Greenville,” Melissa said. “Liam was still toe-walking and falling all the time. We were worried about him getting hurt. [Lauren Hyer, M.D.], in Greenville said she didn’t know about KIF1A, but she could treat the orthopedic issues Liam was having.”
After his family moved to Ohio, Liam began having physical therapy appointments at Shriners Children’s Lexington. He also sees the Pediatric Orthotic and Prosthetic Services department for custom ankle-foot orthoses to help stabilize his ankles and feet, improving his ability to walk.
Liam has required half a dozen surgeries over his lifetime to help improve his mobility and relieve some of the stiffness in his muscles. Most recently, Liam had surgery to remove hardware that had been previously installed. After many of his surgeries, Liam has needed to relearn to walk.
“Shriners is keeping him active and loose and limber, and moving correctly,” Melissa said. “They have given him the opportunity to be a 14-year-old, to provide for himself and have some independence. It’s given him a lot of confidence.”
A Positive Outlook
Even during recovery from surgery and other challenges, Liam remains positive and optimistic. “Shriners has also given Liam a different outlook on life,” Melissa said. “It has given him more confidence. Working with Shriners has completely changed his quality of life in many ways – not just surgically, not just physically, but mentally too.”
Liam agreed. “Being at Shriners means I get a better life,” Liam said. Despite the daily hurdles of living with a rare disease like KIF1A, Liam is a funny, outgoing, friendly and optimistic teen.
“Everything is difficult in Liam’s day-to-day life,” Melissa said. “But he just has a great insight and positivity about him and life. He just keeps going, telling jokes and making people laugh. He may have had the most difficult day physically, but he’ll sing you a silly song and make you laugh. He’s a happy kid who just wants a chance at a neurotypical kind of life.”
Liam wants people to know that he does not let his disorder hold him back. “I’m still capable in life and I can still do things,” he said. Some of those things include archery and fishing. Liam also loves his family and has an affinity for superheroes.
“Shriners has been a key element in Liam’s success,” Melissa said. “Shriners, for Liam, just equals life. For us, it’s such a blessing. They have given him the opportunity to learn and relearn to walk and to take care of himself. Having access to care at Shriners has taken such a burden off our shoulders, and we’re able to focus on Liam and the care he needs; not on pushing hard, just getting the treatment he requires. It’s very nice not to have to worry about roadblocks to getting him the care he needs.
