My son Brayden was born in March 2010 at 41 weeks via csection. He was a very healthy baby boy. By the time he was about 2 years old, I knew something was different with him. He suffered from recurrent ear infections, was developmentally delayed, crawling at 1 year and walking at 16 months old. He was always a very happy child, made eye contact, played with kids at the babysitter, was very active and he suffered from sensory issues, more specific, loud noises. Brayden was diagnosed with ADHD at 4 ½ years old, with Autism in October 2016 and in July 2017, we found out he has a single gene mutation, KIF1A gene disorder. KIF1A Disorder is a very rare and degenerative neurological disease affecting children born with a mutation in the KIF1A gene. There are approximately 100 children worldwide reported to have KIF1A. There is no cure or treatment, YET! Researchers and physicians at Columbia University Medical Center, specifically Dr. Wendy Chung, is relentlessly working to discover treatment for every child living with KIF1A. There is an urgent need to accelerate this research, so families are relying on donations and fundraisers to raise money and drive them closer to finding a cure. Autosomal dominant KIF1A-related disorder is a genetic condition that is confirmed by genetic testing of the KIF1A gene. Autosomal dominant KIF1A-related disorder is a variable condition primarily characterized by global developmental delays (motor delays typically most severe) with onset in infancy, variable intellectual disability, and brain abnormalities that may worsen over time including hypoplastic corpus callosum and cerebellar and cerebral atrophy. Many affected individuals have subsequently developed issues with muscle tone (hypotonia and/or progressive spasticity), increased deep tendon reflexes, movement disorders, stiffened joints called contractures, and peripheral neuropathy. Unfortunately some affected individuals have been unable to walk. Affected individuals may develop vision problems which can include optic nerve atrophy, cortical visual impairment, and nystagmus, and less commonly affected people have developed seizures or microcephaly (small head size). The symptoms of this condition may worsen overtime. This diagnosis explains Brayden's history of autism, ADHD, developmental delays, cognitive delays, and vision issues. Based on this diagnosis, he is at risk for hypotonia, progressive spasticity, movement disorders that can cause limited ambulation, contractures, peripheral neuropathy, and seizures. Therapies are essential for Brayden to reach his full potential and he will likely continue to need assistance in school. Today, Brayden is a typical 7 year old boy. He has never met a stranger and is loved by everyone. His great sense of humor, baby blue eyes and his contagious smile always melt your heart. He loves his younger brother and his family, he is obsessed with the weather, loves cars and trucks, shooting basketball, playing on his iPad, WWE wrestling and Paw Patrol, swimming and being outdoors. He struggles with his school work, but has made great strides over the last year. He continues with PT/OT, ABA (Applied Behavior Analysis) and speech therapy in and out of school, has overcome some of his fears, his social skills have improved and he works very hard at all he does. He has proved that his limitations will not hold him back. To learn more about this genetic condition, visit www.KIF1A.org. This website was started by a family directly affected by this rare genetic disorder. You will find all the essential information about KIF1A, the families affected and you can also make donations from the site. All donations are tax deductible and go to KIF1A.ORG, a patient-led nonprofit 501c3 (Tax ID: 82-0714729) that supports KIF1A research at the Chung Laboratory at Columbia University Medical Center. 100% of the funds benefit this vital research needed to find treatment for children living with KIF1A. I plan to help continue to raise awareness and pray that one day Brayden's journey will inspire others and ultimately find a cure for this genetic disorder. Until then, we will continue to celebrate each milestone that he conquers and “just keep swimming!” Brayden has already touched the lives of many and is loved by everyone that comes in his path!