“In spite of his challenges, Beau remains a happy, outgoing, and loving little boy. He explores the world with curiosity and wonder.”
A message from Beau’s family:
Beau is truly a superhero, and every superhero has a story! When Beau joined our family, he brought so much light – he was our rainbow baby, after trying for a long time to conceive. He was a perfect newborn, healthy and thriving. We started noticing around 10 months that he was a little delayed in crawling which led us to more delays in walking. We began noticing small communication delays and problems with his legs. At 15 months, we started physical therapy which led us down a path of diagnosing Beau when our pediatrician and physical therapist suspected Cerebral Palsy. It is a scary thing to be told that there is probably something “neurological” going on with your child with no indicators of anything wrong leading up to this point. He even had a sedated MRI done of his head, neck, and spine that showed no brain damage that would be indicative of Cerebral Palsy.
When Beau became mobile, he had MANY falls that have left two broken front teeth, multiple chin lacerations, a busted eyebrow, and countless bruises. We were told that “Beau Beau’s boo boos” were just a part of being a rough and tumble, rowdy boy. We always felt that something was going on, but it took about a year of searching to find a diagnosis.
With the help of a team of doctors at Valley Children’s Hospital, Beau was diagnosed on December 17, 2021 with KIF1A Associated Neurological Disorder (KAND) – just weeks after his second birthday. The scariest part of that day was Google searching KAND and seeing one article show a life expectancy of FIVE years old. Doctors at his hospital had never seen a child with KAND but lined him up with SEVERAL specialists.
Beau sees a Neurologist, a Physiatrist, an Ophthalmologist, a Neurological Surgeon, a Physical Therapist, an Orthopedist, a Nutrition Specialist, and a Developmental Behavioral Pediatrician. He attends 3-4 therapy appointments a week including physical therapy, speech therapy, early intervention, and occupational therapy. He wears AFO braces on his legs, a compression vest for sensory input, and we are exploring various walkers and gait trainers for assisted walking. KAND has given him hereditary spastic paraplegia – a tightening on the muscles in his legs that prevents him from using them correctly – and was also diagnosed with optic nerve atrophy. He has severe balance issues that also prevent him from walking. He has also been diagnosed with an intellectual disability which affects the development of his communication and understanding.
Before KAND, we used to hold out until the day he walked, but now we celebrate each and every milestone or measure of progress as a miracle. Every day tasks or movements take Beau three times as much energy as most kids, but let me tell you this – that does not stop him. He is motivated, determined and LOVES to move.
In spite of his challenges, Beau remains a happy, outgoing, and loving little boy. He explores the world with curiosity and wonder. He loves everything there is about being outside and gets everywhere he needs to go on his hands and knees (which makes for an expensive pants budget). He loves playing with his Goldendoodle, June, and anything that involves dirt, loud noises, and climbing. He loves water and will hopefully learn to swim this summer.
We pray every day for a cure or treatment for KAND so that Beau can live a life that never holds him back from his dreams. Beau is OUR superhero.