The journey to a rare disease diagnosis can be long and daunting – and, in some cases, may mean facing a few misdiagnoses first. According to KTVB7, this is what happened to the McCarty family when seeking a diagnosis for their son Killian. By the time Killian was two years old, his family noticed that he had missed some milestones. A doctor diagnosed him with cerebral palsy (CP), a neurological movement disorder. However, by the time Killian turned ten years old, his condition had worsened. After taking Killian to another doctor, his family learned that he had initially been misdiagnosed. Now, the doctor offered a new (and accurate) diagnosis: Tubb4a leukodystrophy.
About Tubb4a Leukodystrophy
Tubb4a leukodystrophy, which may also be described as Tubb4a-related leukodystrophy, is a rare and progressive neurological condition. Ultimately, Tubb4a leukodystrophy sits under the greater umbrella of leukodystrophies, or diseases affecting the central nervous system (CNS) by causing the abnormal development or destruction of the myelin sheath, which protects nerves from damage. There are around 52 different forms of leukodystrophy. In Killian’s case, Tubb4a leukodystrophy has only been described or diagnosed in around 200 individuals. TUBB4a gene mutations cause this condition.
Those with Tubb4a leukodystrophy have hypomyelination (a reduced ability to form myelin) and demyelination (the breakdown of myelin). Altogether, Tubb4a leukodystrophy is a variable disease. The mildest form is often referred to as isolated hypomyelination; it manifests between late childhood to adulthood. Symptoms include mild cerebellar atrophy, mild hypomyelination, slurred speech, learning disabilities, and movement problems. In the middle of the spectrum, patients may experience mild-to-moderate hypomyelination, cerebellar atrophy, and basal ganglia impairment. Symptoms can include muscle stiffness and paralysis, movement difficulties, and impaired coordination.
Finally, those with the most severe form of Tubb4a leukodystrophy are considered to have “hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC).” Symptoms manifest in infancy or early childhood. These can include hypomyelination, putamen atrophy, developmental regression, dystonia (involuntary muscle contractions), muscle rigidity, impaired coordination, slurred speech, difficulty swallowing, a weak voice, epilepsy, and learning difficulties. Learn more about Tubb4a leukodystrophy.
Killian never lets his condition get him down. So far, he has undergone multiple surgeries, participates in multiple weekly therapy sessions, and visits a specialist multiple times every month. Killian uses a feeding tube and requires mobility assistance to move around. That doesn’t stop him from staying active and playing sports! According to his family, Killian absolutely adores every sport from football and baseball to hockey and skateboarding. His mother is thankful for groups like Challenged Athletes Foundation (CAF), which help Killian play adaptive sports.
Outside of sports, Killian also loves spending time with his sister and brother, telling jokes and making people laugh, and starting his own hot sauce! Alongside his mother, Killian created a fermented hot sauce called Killian’s Wheely Hot Sauce. Sometimes his family even gives out the hot sauce as gifts.
Right now, Killian’s future is still somewhat uncertain. There are currently no cures for Tubb4a leukodystrophy. However, Killian’s mother, Tara, is committed to changing this. Alongside other mothers within the rare disease and leukodystrophy sphere, Tara has begun working to raise awareness of Tubb4a leukodystrophy – and start raising funds for research. She hopes that with enough advocacy and awareness, more research, and even clinical trials, can be done.
As we all fight towards that goal, let’s remember an important lesson from Killian himself:
“Just go do stuff! Live life to the fullest.”