While it’s true that our KIF1A superheroes are relentless 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.
“We can’t die.” Rare disease parents are terrified of dying. What will happen to my child? Who will care for them? Who will fight to find them treatment? If you haven’t listened to this Once Upon A Gene podcast with KIF1A dad Luke Rosen and rare mom Effie Parks yet, here it is: https://effieparks.com/podcast/episode-116-luke-rosen
Grandparents cope with rare life too. Listen to a collection of stories from rare grandparents, including an incredible KIF1A poppy, on this @OnceUponAGene podcast. https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347?i=1000545164699
#ThisIsKIF1A from Rylan’s family: “Rylan recently started taking medicine for his seizures. Last night he asked if he could take medicine to make his eyes work better. Though we can’t prevent optic nerve atrophy with a pill, we are thankful for friends who take time to help guide and include Rylan.”
Ethan was diagnosed with KIF1A Associated Neurological Disorder (KAND) in April 2021. His family shares, “As we began to do research about the disease, the uncertainty of his future was devastating. After many tears shed, we began to realize that all we have is today. Epilepsy is actually the diagnosis that led us to get genetic testing done which led to finding out about his KIF1A variant. Ethan went 133 days seizure free, but sadly last week he had a small breakthrough seizure. It breaks our heart every time he has to experience a seizure. We would give anything to make sure he never has another seizure.”
KIF1A patients and families told us what matters most to them. Want to know what’s on their mind? Here are a just a few of the many things that matter most told directly from our KAND community’s perspective at the 2021 KAND Conference.
During our Patient Perspectives Activity at the KAND Conference, KAND families and patients were asked what worries them about this disorder. Here are a few responses shared within our community:
During our virtual 2021 KAND Family & Scientific Engagement Conference, we asked families and patients affected by KIF1A-Associated Neurological Disorder (KAND) to describe the most challenging aspect of living with KAND. Here are a few responses.
A mother’s relentless love. A daughter’s relentless spirit. This is KIF1A, by Colbie’s mom: “Colbie has to work exceptionally hard to learn to do what many consider simple tasks. Because of KIF1A-Associated Neurological Disorder, she struggles with balancing and coordination, low muscle tone, and other vision and sensory challenges, making any movement more of an effort. She is unable to stand or walk independently. At just two years old, Colbie has spent much of her life in therapies and doctor appointments. She averages five therapies a week including speech, feeding, occupational, physical, and aquatic or hippotherapy. Therapy can be a lot of fun for her at times, but it can be tough, too!” Colbie recently completed a 30-hour, 10-day intensive physical therapy. Check out the full video Colbie’s family shared of her experience and the ceaseless determination on her face throughout her intensive therapy.
This Is KIF1A shared by Myles’ mom: “These are Myles’ knees. They’re in a constant state of cuts, bumps, bruises, scabs & scars from endless falls. Myles had another injury to his knees a mere 24 hours after this photo of his injury was taken. Sometimes he comes down on them so hard I could cry for him. People flinch whenever they see them – imagining the pain sustained through each & every injury – which is rare because he can’t wear shorts. He’d rip his knees to shreds if he did, so he costs me a fortune ripping knees out of his trews! Having to wear trousers, orthotic footwear & a defo suit compound his inability to regulate his body temperature properly (fortunately Scotland never gets hot! :smirk:).”
“Danny has been having generalized tonic-clonic and atypical absence seizures since he was three years old. Every 2-3 years since then, Danny has experienced a tonic-clonic seizure. By the age of 11, Danny started to develop more frequent absence seizures which has significantly affected his daily life. Danny also started having atonic seizures 2 years ago, causing him to drop to the floor from the loss of muscle tone. He typically enjoys crawling through the house, working on tasks, opening and closing doors, playing with his bucket of toys. However, his whole routine and mood changes when he is experiencing seizures. He gets frustrated because he is not able to crawl as much as he wants, and he can hardly get to a kneeling position to open and close the door. When he plays with his toys, he gets tremors in his hands, and his whole upper body suddenly hits the floor. It’s so sad to see him so down, uncontrolled, and unbalanced trying hard to crawl and falling to the side. It is painful for us to think that he will not be able to crawl, play, see or enjoy his life in the near future the way he does now because of KIF1A-Associated Neurological Disorder.” – Danny’s mom
Amelia’s two beautiful front adult teeth were knocked out while simply trying to turn around in the bathtub. The bone was broken so badly that fake teeth will never be an option. As you can tell, Amelia’s smile is still as beautifully infectious as ever.
Even for the youngest warriors, occupational and physical therapy occur daily, sometimes multiple times, just to maintain the abilities and skills those with KIF1A have gained in order to fight against the loss of mobility.
“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
Eleonora’s impact lives on, and now, she is the guardian angel to her little brother, Emanuel. # Nu vill de ge andra stöd och hjälp – Limhamn/Bunkeflo (lokaltidningen.se)
“Being impacted by a rare disease can make you really, really lonely. Because complications, additional needs and medical procedures never stop, neither do our efforts to share updates, raise awareness and tell others about what our daughter lives through each day. We wish we didn’t have to. While we don’t expect our family and friends to be on standby for our everchanging needs, reaching out with a simple message like ‘I’m here if you need to talk,’ or ‘I am so sorry she is going through this,’ or ‘Is there anything I can do,’ can mean so much. Just knowing that others outside of our KIF1A community hear us, care, and are willing to support us when we are in the dark makes our world a little brighter.” – Emily’s mom
“I get frustrated with my friends who complain about their kids growing up too fast. That’s my dream. To see my child grow and become independent. That’s the way it’s supposed to be.” – A KIF1A Parent
#ThisIsKIF1A from a tired, but relentless KIF1A mom: “I’m tired. He’s tired. We’re tired. Life’s most-recent challenge has been balancing his appointments with quality of life. What’s fair? What’s too much? How do we do ‘let the kid be a kid’ with ‘as much intervention as possible so as he regresses, he has more to regress from’?”
Gunnar was diagnosed earlier this year with KIF1A-Associated Neurological Disorder (KAND) after several years of his family pushing medical professionals to take their concerns seriously. Because of this disease, Gunnar suffers from hereditary spastic paraplegia. He has spent several years in physical therapy, has underwent serial casting, wears splints at night and AFOs during the day, receives Botox injections and takes Baclofen daily, all to keep Gunnar as ambulatory as possible for as long as possible. Though he walks, he requires a stroller or wheelchair for longer distances. He also has trouble with balance and coordination, and he has had numerous trips to the emergency room for stitches. No matter how careful Gunnar’s family is, falls happen. He injures himself in ways that no one would expect like falling off a toilet and into a heavy bathroom garbage can. Though accidents can happen to typical children, this is a battle for Gunnar every day of his life.
This Is KIF1A shared by Emma’s mom: “Emma will be 2 in June. She is still not mobile and although she can independently put herself into sitting position, she often loses her balance even during simple activities like this one. We constantly worry for her safety and know that as she gets bigger, these falls will start having a much bigger impact on her. KIF1A has already put a huge strain on her development, and we fear it will only get worse.”
A mother’s relentless love. A daughter’s relentless spirit. This is KIF1A, by Colbie’s mom: “Colbie has to work exceptionally hard to learn to do what many consider simple tasks. Because of KIF1A-Associated Neurological Disorder, she struggles with balancing and coordination, low muscle tone, and other vision and sensory challenges, making any movement more of an effort. She is unable to stand or walk independently. At just two years old, Colbie has spent much of her life in therapies and doctor appointments. She averages five therapies a week including speech, feeding, occupational, physical, and aquatic or hippotherapy. Therapy can be a lot of fun for her at times, but it can be tough, too!” Colbie recently completed a 30-hour, 10-day intensive physical therapy. Check out the full video Colbie’s family shared of her experience and the ceaseless determination on her face throughout her intensive therapy: https://www.youtube.com/watch?v=tywvYryy0do
James dislocated his finger while simply turning around with his walker and tipping over sideways due to his ataxia. Because his legs have started giving out and buckling at his knees, falls are occurring on a daily basis. James also struggles with his balance and vision, and he is now having seizures more regularly. He experiences pain through his hands when using his walker, even short distances, and now primarily uses his wheelchair.
8-year-old Rafferty received his KIF1A diagnosis in 2019. He has also been diagnosed with autism, ADHD, and an intellectual disability. This photo was taken after his first seizure in February of this year. While he bounced back from it quite remarkably, his seizure disorder is another diagnosis that needs to be monitored regularly.
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.
#ThisIsKIF1A from Gia’s mom: “Gia’s big sister, Juliana, had to write a letter at school. They could write whatever they wanted to whomever they wanted. This letter is what she decided to write. Since Gia died, this is KIF1A for us now. It’s not the everyday struggles of having a medically fragile child in this COVID-filled world that we live in. It’s not about keeping our baby safe or seizure free or free from respiratory illness. It’s not the battle of fighting with insurance over medications and medical equipment. It’s not the revolving door of doctor appointments, PT, OT, eye therapy and feeding specialists, social workers and case managers. It’s the grief that we feel every second of every day and what we are doing to move through a universe without our sister, our daughter. It’s having a pain so deep that it physically hurts and aches for our loved one. It’s the fact that our 9-year-old is in school and the first person she thinks to write a letter to is Dr. Chung, who we all appreciate more than words can say. But I wish this wasn’t our life.”
Parents want to protect their children from harm. But KIF1A parents can’t stop the falls and injuries or vision loss or brain atrophy until we have treatment.
For some of us, holidays (or any other “normal” occasion of celebration) are really hard.
We asked families affected by KIF1A what matters most to them. Here are a few of their responses: “Keeping hope alive.” “My daughter is loved and connected.” “My child has a happy and full life.” “My child having genuine friends.”
This Is KIF1A shared by Hoyt’s mom: “At 2 years old, Hoyt lost his first tooth. Not because it was ready to come out, but because crawling without falling face-first into the floor is a daily struggle. Hoyt has severe balance and coordination issues because of KAND. He was playing with his cousins one day, lost his balance and chipped/damaged his front tooth so bad that there was no saving it. We will now have a gap there until his permanent tooth comes in years down the road. We’re praying the other front tooth doesn’t get knocked out as well, but the odds aren’t in our favor. Luckily, our little warrior is a champ and has smiled through all of it. Hoyt has a very high pain tolerance, which is another symptom of KAND, and sometimes doesn’t even recognize when he is injured.”
Until we find treatment, KIF1A Associated Neurological Disorder will rob children and adults of their ability to walk, talk and see—sometimes even eat or breathe. That’s why we’re working relentlessly to change the fate of KAND.
Families came together during the 2021 KAND Conference Patient Perspectives Activity to discuss what outcomes of future treatment would be most helpful for their loved ones. While every KAND patient experiences different symptoms and progression, the outcome of treatment for those that participated focused on quality of life. Here are just a few of many responses from families completing this sentence: “I hope treatment will help with…”
Being born with a neurodegenerative disorder means sometimes you have to spend your birthday in the hospital.
#ThisIsKIF1A from an anonymous parent: “Instead of planning our child’s playdates and outings into the community, we are scheduling appointments, tending to emergency situations, and trying to take another day off work because we can’t find a sitter who can care for our child’s needs. Because our needs and requests are so great, our village of supporters are fatigued, too.”
#ThisIsKIF1A from Kathryn Atchley, mom to Parker and President of KIF1A.ORG: “Imagine if the first 100 people diagnosed with COVID were told, ‘Wow, that’s unfortunate. Why don’t you come up with the money and convince enough scientists and pharmaceutical companies to study this unknown disease with no treatment? Make sure you work fast though, because millions of other lives now and in the future are counting on you.’ That’s what it’s like for KIF1A and rare disease families around the world. The emotional, physical and financial toll it takes on families to tackle rare disease is unimaginable to many. We do it anyway because if we don’t change the fate of KIF1A, who will? For every ‘This Is KIF1A’ story that details the horrors of this neurodegenerative disease, I think ‘Yes, but THIS is KIF1A.ORG.’ No single person will find treatment for KIF1A. But this community of families, scientists, doctors and all the people who support our mission will absolutely change the fate of KIF1A.”
One of Anderson’s greatest challenges is his stability. He has great difficulty navigating the environment and needs 1:1 close supervision so that he does not get hurt. He is eager to be independent, resulting in many injuries, one recently requiring 7 stitches after trying to get off of the toilet without help. His protective responses are delayed, and though he has a gait trainer, getting him to use it efficiently without running into things around him has its own struggles. Anderson tires easily and loses strength, thus dragging his feet and falling more often. As he gets older, he is becoming more active and trying to move faster, but most times is not fully aware of being cautious. Because of this and issues with his vision, he needs constant cues to look where he is going and to stop running/moving too fast. His hyperactivity also impacts his tolerance for many tasks, the ability to learn things that take more time, and making friends. The anxiety over his safety can be all consuming and hinders his family’s ability to allow Anderson to have the independence he is so desperately seeking.
Sadie’s family has filmed many of these unexplained episodes to review with her neurologist. She does not want to be held or even touched during the episodes. She tremors as she wails for what can be upwards of 30 minutes. Her family has learned to just sit in the moment with her and try to keep her safe. Despite testing done to determine a cause, doctors still don’t know what these episodes are and what triggers them. Whether they are muscle spasms, neuropathic pain, seizures, or something else, Sadie must sit through and endure each episode until they resolve on their own.
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.”