While it’s true that our KIF1A superheroes are relentlessness and heroic, many moments are raw, emotional, and challenging. Families don’t often have a platform to highlight daily KAND life. Each Sunday,
#ThisIsKIF1A is featured on social media for sharing stories of real battles experienced by our friends living with KAND. If you have a story to share, send an email to Charlotte@KIF1A.ORG.
“The pain of a spastic episode when her legs stiffen up like planks, and all we can do is massage her, hold her and tell her it’s going to be ok. But it’s not.”- Luke Rosen, KIF1A Superhero Susannah’s dad
After living with KAND for 25 years, Shaye knows all too well the many daily battles from this degenerative disease. At a young age, Shaye struggled with balance, strength, and other areas of development. After the age of 10, Shaye was diagnosed with epilepsy. No matter the number of appointments attended, therapies or medication concoctions, Shaye continued to experience new and significant complications. Shaye underwent a painful spinal surgery for scoliosis which caused significant problems and a staph infection in the spine. This forced her to spend 2 years in and out of the hospital and undergo multiple subsequent back surgeries. Despite Shaye’s determination and drive to maintain her health, her family must fight hard to navigate through a medical world lacking knowledge about KAND so she can be treated adequately as needs arise. Shaye’s twin sister, Gemma, also shares the same diagnosis, adding to the exhaustive schedule the family must adhere to in order to keep both Shaye and Gemma healthy.
“KIF1A is currently robbing Bryce of many things that most children do at two. If I could pick one thing out of those that would be most helpful right now, it would be the ability to sit unassisted. Bryce struggles with severe low muscle tone and balance issues because of KIF1A and he does not have a catch reflex to protect himself when he starts to fall over.” – Bryce’s Mom
This Is KIF1A from Cam’s mom: “Cam was misdiagnosed as a toddler with cerebral palsy after failing to meet milestones such as crawling and walking. When Cam was in middle school, his walking became unstable. Since we knew CP doesn’t worsen, we decided to have genetic testing done. Since his KIF1A diagnosis, he’s lost the ability to walk independently and uses a wheelchair to get around. That doesn’t stop our Cam! He’s full of determination with a side of stubbornness. He’s an amazing young man that we’re very proud of! He loves animals, tractors, firetrucks and playing games on his tablet.”
As Giulia struggles to breathe on her own, her parents struggle to find proper care for her. While she has frequent hospitalizations, her doctors are unfamiliar with KIF1A and overwhelmed by COVID. To add trauma on top of trauma, her mother can only spend 4 hours a day with her while she is hospitalized due to COVID restrictions. Giulia just returned home and her parents are hoping she stays stable. Every day without treatment, KIF1A puts Giulia’s life at risk. We need treatment NOW.
In the last few years Ellie has gone from being able to walk a good 100 yards or so holding your arm, walking up to a mile + on her frame, to a few steps on your arm and being mostly in her chair. Lockdown has only made her decline 10x faster. This is our reality. Yet she constantly adapts to whatever her legs are doing that day. If she has to crawl she will. If she has to bump up the stairs on her bottom she will. She never lets her legs stop her.
Today is Valentine’s Day. It’s a day we celebrate love, but it is forever remembered as a day of loss for Eleonora’s family. “Today, two years ago, on Valentine’s Day, our hearts were brutally broken – our beloved Eleonora took her last breath. Our daughter, our child left us. Eleonora’s life ended when she was three years old from KIF1A. Eleonora’s variant gave her extensive disabilities and enormous challenges in everyday life. She struggled every day with, among other things, severe epilepsy, severe muscle hypotonia and severe breathing difficulties. If Eleonora became infected with a virus, it could quickly lead to a serious condition. She overcame nine pneumonias during her lifetime, the tenth leading to her death. February 6, 2019, we went with Eleonora to the hospital after she had breathing difficulties, which turned out to be due to pneumonia caused by the flu. Eleonora’s condition worsened. Impotence. Pain. Surrealism. Horror. February 14, 2019, Eleonora died, her little body could no longer bear it. Our Princess and Superhero left us forever. The cause of death was ARDS – Acute Respiratory Distress Syndrome. Valentine’s Day will forever have a very special meaning for us. Eleonora – forever loved. Forever missing.” This video shared by Eleonora’s family was taken hours before Eleonora took her final breath.
Mason struggles with his vision and balance due to KIF1A-Associated Neurological Disorder (KAND). He has had some bumps and bruises from falling. His most recent injury was a broken nose.
“Turner is a fighter through and through. Because Turner lives with KAND, he developed scoliosis, requiring this significant surgery. This photo was taken in the PICU after Turner’s posterior spinal fusion and posterior column osteotomy to correct damage to his spine. This was the hardest surgery we’ve gone through, and the recovery was extensive. To see our son like this and feel so helpless is heart wrenching. Turner is our greatest blessing. His strength, light and love are a bright light in our KAND journey.” – Turner’s mom
Due to the loss of balance and vision with a delay in processing, one small misstep can cause this kind of damage. Rylan is no stranger to black eyes, missing teeth, and bruises from head to toe caused by the implications of KAND over the last 5 years. Even with 3 adults within 5 feet of him, Rylan fell off a stair and suffered these injuries to his face. He needs constant supervision and for someone to be within an arm’s reach of him to keep him safe. Despite efforts made, not all falls and injuries can be anticipated and prevented.
Rohan’s Mom shares their experience with the long and laborious casting routine: “Getting your feet into a neutral position is an essential part of being able to walk independently. Because of #KIF1A, Rohan’s brain basically tells his muscles to tighten up rather than relax, especially when he’s moving, which is why walking is such a challenge for him. Casting helps train his brain and forces his muscles to relax. Each week for 3 weeks, a therapist will place his feet into the ideal position and put on the casts. The following week, the casts come off and the therapist then measures his foot position to see if it can stay in a more neutral position. Then, they adjust the foot into a slightly different position for added stretch and recasts his legs. It’s all so so so much: the amount of appointments, the emotional toll on Rohan, and just the stress of hoping it’ll work and make a difference.”