Diagnosed with KCNA2 gain and loss of function epileptic encephalopathy at age 7
Matthew Harrison … Born October 5, 2010 in Helena Montana. Matthew’s story mirrors several others who are living with KCNA2. At birth it was known to us almost immediately that Matthew was suffering from an unknown medical condition. However nothing could really ever prepare us for the unpredictable medical journey we were about to embark on.
Matthew is now an energetic, vivacious, funny and determined 12 year old boy. He enjoys Trains, dinosaurs, cars, trucks and being outside at the lake or on a mountain to ski. He has an adventurous spirit and an unwavering determination to try new things and keep up with his friends and siblings. Matthew’s approach to life has always been to try anything and everything at least once and keep on trying, never giving up.
Matthew was diagnosed at age 7 after a very precarious beginning which started with the presence of infantile spasms at birth and the Tonic Clonic and focal seizures that appeared at age 4 months. After 3 rounds of genetic testing and years of many
other types of medical tests we were given the lengthy diagnosis of KCNA2 potassium Channel gain and loss of function epileptic encephalopathy. A real mouthful huh? Matthew was unstoppable, always on the go, ready to play and interact with others until seizures would break through. Years of seizures, movement difficulties, developmental delays, sleep issues, injuries from poor mobility, managing side effects from many medications and seizure recovery have been some of life’s challenges for our son.
With Much perseverance and determination, Matthew was able to stand and walk for several years. Unlike some children born with KCNA2, Matthew was able to figure out his own way of walking. At certain stages he has needed help from a walker and early on only needed a wheelchair for longer distances and difficult tourane. As Matthew has gotten older he has lost his abilities to walk and stand on his own and he has found his mobility scooting, crawling around and in a wheelchair.
Despite a steady decline since the age of 9, Matthew continues to smile brightly and attend school and take part in adaptive outdoor activities. Managing seizure activity and medication management is a constant shuffle. attending and managing frequent doctor’s appointments and countless therapies has been part of Matthew’s everyday life since birth.
How He’s doing now
Matthew is now 12 years old: energetic, vivacious, funny, and determined. He’s always had an adventurous soul… eager to try new things, explore the outdoors, and keep up with his friends and siblings.
In his early years, he found his own unique way of walking. At different times, he used a walker, and for longer distances, a wheelchair. As he grew older, however, he gradually lost the ability to walk and stand independently.
These days, Matthew moves around by scooting, crawling, and using his wheelchair. His mobility may look different now, but his enthusiasm hasn’t faded.
He attends school and participates in adaptive outdoor activities. He continues to manage seizure control and medication balancing, alongside many doctor visits and therapies; all part of the life he’s known since birth.