KIF1A Disorder

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    5 Things I Wish I Knew About Parenting a Child With a Rare Disease

    Last year, I found myself emotionally and physically isolated as the primary caretaker of my son. In caring for him, I lost track of the things I should have been doing to take myself. But, through enduring this, I gained some perspective and learned some lessons about what we can expect to go through as caretakers of children with a rare disease. I now have more experience with accepting uncertainty, dealing with difficult and emotional situations, and navigating the medical system than I ever could have imagined. I have used my experience to write this list of five things I wish I had known about parenting a child with a rare disease. I hope that in some small way it can alleviate the shock of coping with a rare disease diagnosis for parents and caretakers and help prepare them for some of the things they will experience. Stay hopeful! You will always have more questions than answers. I am a curious Type A personality. I thrive on facts, information, and plans. At any given time, I have contingency plans for my contingency plans. Navigating the world of rare disease is like playing Twenty Questions, except everyone’s guessing, and you’ll never win. Making peace with uncertainty, or at least attempting to, helps ease the burden of exploring the world of the unknown. Your child will have a care team, but you won’t. While you get a crash course in organizing information, dates, names, diagnoses, locations, prescriptions, and paperwork, you will have a team of doctors and medical staff rallying behind your child. But you won’t have a dedicated team to help you navigate this difficult journey. You will be left in charge of your own care. Your own mental and physical health. Your own marriage and friendships. To my complete surprise, I found myself isolated, both emotionally and physically, during 2021. I was swept up in caring for my son that I lost myself, my needs, my wants. Most painfully, I failed to recognize the toll taken on my body and mind. We as parents experience trauma through the ups and downs of caring for our loved ones. For our own well-being, we must address and seek help processing this trauma. You will somehow possess superhuman patience and strength … and still lose your cool. In the wake of the many stressful moments you’ll encounter, people will make comments such as “I don’t know how you do it” and “I could never do all the things you do.” The absolute truth is I don’t know how I do it either. But I do. We do. All of us parents who are raising children with exceptional hurdles. I can stand firm and cross-examine the medical biller on why we are paying for a service that should be completely covered, then find myself drowning my sorrows, fears, and frustrations in a McFlurry wondering why this is my life as I wait for my son’s therapies to finish up. Learn to accept extreme emotions, you will ride them like riding waves on a jetski. You WILL see the world differently. For better or worse, your view of society will permanently change. You will become very aware of the flaws in assistance systems and the lack of resources. You will learn how to navigate conversations about disability, health, time, money, and freedom differently. Conversely, you will see more families like yours, and with that, a certain unspoken understanding of the difficulties others face will emerge. The shock of living in the zebra/rare disease world will never wear off. Now hear me out. Yes, the pain of diagnosis day will eventually feel like an echo. However, if your child requires additional support in the form of therapies, services, medication, or devices, you’ll experience bouts of blinding rage at the glaring gaps in systems that are supposed to help. Programs that you think will cover medical needs will not, friends and family may think your child will simply outgrow their illness and/or disability, and many doctors won’t have heard of your child’s diagnosis. These abnormal experiences are all very normal in our world: the rare disease world.

    Luke Rosen

    COVID-19 and Its Impact on Rare Disease Treatments

    On February 28, I stood on a crowded line waiting to pass through the Canadian border checkpoint at Montreal’s Trudeau Airport. Ordinarily I would have balked when an agent stopped to spray sanitizer on the hands of every passing traveler. Any other day I probably would have paused with concern when I saw border agents wearing N95 masks. I certainly should have questioned more when the Canadian customs agent asked twice if I had recently traveled to China. Any other day, I would have identified the increased precaution people were taking and sensed the palpable panic about to erupt. But on this day, I absorbed nothing—certainly not the possibility that a virus was about to cripple civilization. On February 28, standing on a crowded line in a foreign country, I was numb and consumed with sadness. I was terrified the agent would ask me to remove my sunglasses only to reveal tears in my eyes. I was on my way to Lhassa’s funeral and thinking about what I would say to her father — a father who just lost his only daughter. Lhassa was a 5-year-old girl whose death was caused by KIF1A associated neurological disorder, the rare disease my daughter was diagnosed with in 2016. This would be the fourth funeral of a child with KIF1A I traveled to in as many years. Like every family in our rare disease community, Lhassa’s has become an extension of my own. This community is bonded by a love so clear that even a language barrier could not delay the most painful conversation my job calls for; a conversation I have had seven times since our KIF1A families and doctors joined in a mission to find treatment for children living with this rare neurological disease. Hours before Lhassa died, I spoke with her mother — a conversation far too regular in the past four years, and a conversation that kills part of my soul every time. I explained to my close friend, as she held Lhassa in the final hours of her life, that an organ donation team was on call and ready to make an unimaginable process as seamless as possible. I asked Lhassa’s mom to donate her dying daughter’s brain and spinal cord to researchers in New York. We talked about how Lhassa would live on in science as an ever-present facilitator for researchers to understand KIF1A. I explained that studying the pathology of her daughter’s brain would allow researchers to discover treatment — a treatment that did not come in time for her own little girl. Words on this page will never describe the unfair and horrific trauma that accompanies those unthinkable end-of-life conversations with parents about to lose their child. On February 28, I was standing on a crowded line at an international airport and thinking about my daughter, Susannah. I was thinking about Lhassa. I was thinking about children dying from rare neurological diseases. And I was crying. I did not notice that everybody around me was preparing for a catastrophic global pandemic. COVID-19 ravaged the world. The impact on rare disease communities is beyond measure. For many rare disease patients and families, the global response to this crisis feels paradoxical. On one hand, our rare disease community has been devastated by painful oversight, lack of care, and diminished quality of life. In parallel to this devastating impact on the rare disease community, in this pandemic, hope for faster discovery of cures has been dangled in front of us. Despite a president whose delay fueled fatality, the rare disease community has witnessed a swift industrial response and remarkable pace of research to develop COVID-19 treatments and diagnostics. The translational speed and medical blitz undertaken by industry to combat COVID- 19 is proof that treatments can get to patients much faster. COVID-19 proves that when innovators galvanize with focused resources and urgency, treatments are developed efficiently to save people who are dying of rare diseases. An abhorrent lack of leadership is responsible for regression in people affected by degenerative diseases like KIF1A. Children with complex medical needs were forgotten as governments closed public schools. Students with disabilities who rely on services like physical therapy, occupational therapy, speech therapy, and other crucial interventions were sent home to isolation with no emergency action plan. Without consistent services, our children lose words, steps disappear, and skills vanish—skills that parents, therapists, and educators fight relentlessly to preserve. These vital therapies do more than maintain and improve skills; they buy us time while we work to find treatments and cures. Critical medical appointments and medication changes are missed and standard of care has become an improvisation with little direction. If an emergency room visit is needed, lifesaving medical equipment is allocated elsewhere because our children are admitted alone, have cognitive delays, and are unable to communicate. People living with rare neurological diseases are suffering, and their lives have been de-prioritized because of this pandemic. Foundations and advocacy groups work tirelessly to fund, support and accelerate discovery of treatment for rare diseases. In many instances, advocacy and family funding are primary sources for early scientific discovery. This integral preclinical research has been derailed as government and academic initiatives pivot to COVID-19. According to a webinar presented in April by Research America, “This has stopped scientific investigations that are essential to understanding, treating and curing countless diseases. Those studies have just been stopped, abruptly terminated, labs closed.” Discovery of rare disease treatment is an afterthought as academic labs are locked down, animal models euthanized, and precious patient-derived cell lines rendered inaccessible or even destroyed. Amid this rare disease derailment, industry response to COVID-19 created a window of opportunity, and rare disease champions must act right now. This crisis triggered resources and workforce to spontaneously develop therapeutics for COVID-19. Biotech leaders executed in weeks what the rare disease community has been fighting for years to accomplish: diagnostics and therapeutics. Families living with rare diseases know time is as much our enemy as nature. Every second together is fleeting, and COVID-19 forced the whole world to feel an identical terror; a terror that rare disease families live with daily. The emergency of COVID-19 induced a unified commitment and work ethic that, if scaled, will bring treatment to rare disease patients before time runs out. The heroism of people on front lines define our society, and previously underappreciated workers are rightfully recognized as the engine that drives progress — and saves countless lives. Now more than ever, together we are strong. A newfound global empathy has emerged for people suffering from catastrophic diseases with no treatments or cures. Because of this global pandemic, humanity is teeming with science-driven empathy and commitment to every patient and family. My call to action for industry is clear: seize this opportunity. Do not abandon rare disease families. Attack rare disease therapeutics with the same relentless work ethic. Industry must act with continued vigor and utter urgency to accelerate treatments for rare diseases. Biotech response to COVID-19 proves that the burden to accelerate treatments and cures for rare disease no longer falls solely on shoulders of parents, families, and advocates. Industry response to this pandemic is evidence that we can harness existing science, execute innovation, and bring treatments to rare disease patients exponentially faster. COVID-19 is a model and roadmap for accelerated rare disease research, development, approval, and access — a pathway of hope forged from a devastating medical crisis. A moment in time that will reveal the character of industry leaders. To learn more about KIF1A, visit

    Community Voices

    Powerful representation on PBS

    I read The Gene as soon as it was published, desperate to understand how a single, random mutation could so cruelly limit my son’s life. Seeing the story of Susannah and her parents, Dr., and this community featured in the PBS documentary adaptation has been so powerful. We see our family in yours. Thank you for sharing your story.

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    Community Voices

    Evacuation Drills are Terrifying for Some Kids

    Our #KIF1ADisorder kindergartner has an evacuation drill in a new, crowded public school. Bright flashing lights cause seizures, loud noises and crowds terrify her, and high stress situations don’t work for her. She’s resilient though. #RareDisease families have enough to deal with without worrying about school shootings and evacuations.

    She’s gonna rock this.

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    Luke Rosen

    Fundraising Ideas for Rare Disease Research

    Before all this happened, I wrote plays. Before Susannah was diagnosed with a rare neurodegenerative disease; before we started the foundation; before I knew about motor proteins and phenotypes; before being thrown into the world of disability; before rare disease policy; before biotech. Before that moment in the hospital elevator when everything changed, one of my jobs was teaching high school and college students playwriting. Over the course of a semester we covered what I believe to be the 12 elements needed to write a good play. The first day of class focused on four key elements of playwriting: two questions and two directives. If a play is crafted around these four principals, it will be a strong story that impacts the audience and encourages bold thought and action. I have not written a play or walked onto a television or film set since just after our daughter’s diagnosis. I did return to the stage once to perform Love Letters as a benefit for the TREATMENT center for Rare Pediatric Genetic Diseases. Last week as I sat in a midtown boardroom, about to pitch one of three KIF1A research strategies and ask a company for 2.5 million dollars to help cure my kid, it struck me: the four key elements of playwriting I once preached to aspiring students on the first day of class could help me today. Perhaps if I take the structure used to craft a powerful play, people in the position to make KIF1A research and development possible will understand the importance of their role. Maybe the people I am about to ask to fund this urgent and innovative clinical program (a program designed by the most capable scientists and physicians to develop treatment for Susannah and kids like her) will dig deep, be bold and join our mission before it’s too late. (Pause) Two minutes before three people kind enough to take this meeting entered the room, I decided to test my hypothesis and thought hard to recall the last time I was in a classroom. Just over three years ago. Before all this happened. I’ll let you in on a little secret, a devastating fault I have – a weakness that prevents me from quickly funding critical research aimed at curing our daughter and kids like her – for all the noise I make as a rare disease advocate, I lack the most important skillset needed to run a rare disease foundation: fundraising. I fail at nonprofit 101. I get angry when people say no to our foundation because KIF1A Associated Neurological Disorder is “too rare.” I am devastated when funds are not allocated to research that will bring treatment to kids whose disease has no therapeutic options. I am baffled when philanthropists pass on donating to our robust clinical research program; a program that could prevent catastrophic seizures in the middle of the night and stop parents from walking into their child’s room in the morning only to find a lifeless body. The structure of rare disease fundraising lacks empathy and urgency, and the playing field is not level. Industrial, medical and scientific organizations with resources need to ask an important question: why does the burden to fund early research and even development fall on rare disease families? Why do parents of severely sick children have to sell their cars, pull kids from private school, mortgage houses, deplete saving accounts and (the most difficult), spend time away from our children with complex medical needs to go on a round of fundraising – precious time away from children who rely completely on our care? One shouldn’t need to be convinced that diseases without any treatment options need to be prioritized and funded, yet every rare disease foundation and so many families spend their days anxiously working to convince people to help before the toll of disease is beyond repair. Perhaps it’s because these very people I pitch to don’t understand the immediate impact their financial support will have. Too often those capable of saying yes need to be convinced when I ask for help. Because time is as much the enemy as nature, my iron fist lacks a velvet glove and my ask is never as nuanced as it should be. I don’t have time for tact, we need funds to access and apply existing science to KIF1A and save the lives of children living with rare disorders — children like Susannah. As I sat in that boardroom ready to ask for funds needed to hire a specific team to design a viral vector – a precision approach to deliver a healthy KIF1A gene (KIF1A is a problematically large gene) to our children’s failing central nervous system, it hit me: maybe I should apply those four key elements of playwriting from the first day of class to this “ask” for KIF1A funding. Two questions and two directives critical in crafting a powerful story and inspiring action. (Pause) So, I did. Of course, the stakes of our scientific and medical mission are exponentially higher than Hamlet’s plight against Claudius or the lost dreams and dead seagulls in a Chekhov play. As long as I don’t speak to these titans of industry in iambic pentameter, maybe the molecular biology will make sense. Maybe these potential donors will realize their return on investment is far greater than a downstream financial gain – maybe these people will understand the return on investment is seeing Susannah and kids like her walk. The key elements of playwriting I asked students to consider on the first day of class are: What do characters in your scene want and need from each other? What are your character’s secrets? Write an emergency: force characters to act with urgency. Write non-verbal dialogue. Two questions and two directives. If a playwright can answer those two questions and hit those two directives, he or she will inspire action with their words. (Pause) Worth a shot. Another fault of mine: I far prefer tactics over strategy, and wear everything on my sleeve. I usually end up with tears in my eyes and it’s certainly not by design. I’m not an entrepreneur and I only care about one thing: finding treatment for Susannah and kids like her with rare genetic diseases. So when three executives walked in, I told them about my former life as a playwright and employed a playwriting 101 lesson plan to accomplish what I went there to do: secure funds for the design of a viral vector, and to show them a thorough and robust proof of concept to support my ask. I wrote the four key elements of playwriting on a whiteboard and addressed each. The first two are questions. I answered each with complete candor, articulating very personal moments for the first time. Then I reinforced our urgent need to fund this project – a project crafted by the most capable, innovative and passionate scientists in the world. It went like this: What do characters in your scene want and need from each other? I want you to understand that you are in a position to save the lives of children who have no treatment options and who are losing the battle to a degenerative disease. You will be part of our community and the decision you make today will immediately impact patients and families. I need you to understand that the science to help children like Susannah already exists. There are two things standing in our way: a lack of money and a lack of time. You can solve both, and KIF1A is the tip of an iceberg that will lead to treatment for thousands of people with rare diseases. What are your character’s secrets? (Pause) I can’t remember the last time my wife and I slept in the same bed together. One of us sleeps next to Susannah every night because we’re afraid she might have a seizure in her sleep and die. When we started the foundation, I promised myself that every time tragedy strikes and a child with KIF1A dies, I will go to his or her funeral and hug the parents. In the last three years I have attended too many funerals of KIF1A children. (Pause) But I didn’t keep my promise to be at every funeral. We became very close with the family of a child in Sweden who had KIF1A, her name was Eleonora. When the family visited New York last year, my wife held Eleonora on her lap and sang “Wheels on the Bus” ever so softly. Eleonora smiled and her father told us it was very rare to see Eleonora respond with joy. I fell in love with this sweet girl. When Eleonora died in February, part of me died. I bought a plane ticket to Sweden to attend Eleonora’s funeral and had every intention of keeping that promise I made. When it was time to leave, I couldn’t stop crying and remembered my wife singing “Wheels on the Bus” and imagined Susannah playing with Eleonora. It hurts so much to think of Eleonora’s death and the emptiness her family must feel, an emptiness every mom and dad who lost a child must feel. (Pause) I didn’t go to the airport. I didn’t go to Eleonora’s funeral. I didn’t keep my promise. That’s a secret and something I will never forgive myself for. Write an emergency : force characters to act with urgency. This emergency was written for us. Susannah’s KIF1A gene has a complex, gain-of-function mutation that causes her brain and body to atrophy. Biotech and pharma have capabilities to develop therapies; the science exists. Pipelines are crowded, and our growing population is still too small to generate real interest from industry. Companies won’t prioritize a treatment for Susannah and KIF1A, so we are urgently raising money to do it ourselves. This is an emergency. Write non-verbal dialogue In playwriting, non-verbal dialogue is magic. It’s that quiet moment when people on stage truly connect. This happens when characters listen and react to each other – when a playwright creates present and human characters capable of love. The playwright accomplishes this by writing in the word pause or silence in parenthesis between lines. That is non-verbal dialogue in theater. (Pause) To rare disease families, non-verbal dialogue means something entirely different. Let me tell you a quick story: Like many kids with KIF1A, Susannah has trouble communicating, especially in the afternoon. As the disease progresses, KIF1A kids have more seizures and extreme fatigue becomes a constant challenge. By mid-day she is wiped out and our noisy little girl sits in silence, too sore to walk and too tired to use the words she knows. Susannah has an epic amount of feelings in her soul and words stuck at the tip of her tongue. She works relentlessly to power each past a foggy stutter. Our superhero wants desperately to run, talk, laugh and play with the other kids. Last week we were in Cape Cod with family and friends. The yard was teeming with cousins and neighbors. Susannah sat in her chair tired and sore, silent and having absent seizures. I sat beside her rambling about baseball and making silly faces – anything to keep her engaged and present. In front of us, five carefree children (some younger than Sus) skipped in the sprinklers shouting and laughing, savoring childhood in summertime. It’s excruciating to see our daughter watch other children play and laugh. Susannah looked at me and I knew how desperately she wanted to scream out, laugh, jump out of her chair and sprint into the water with her cousins and friends. But she can’t. KIF1A keeps her too tired, spastic and silent. I looked back at Susannah without saying a word and knew for a fleeting moment she saw how scared I was; how scared I always am. She burst into tears, unable to verbalize pain and frustration. It’s crushing to see fear and confusion in Susannah’s face because she knows what is happening to her own body. Susannah doesn’t know the bliss and freedom that every child is entitled to, the inalienable human right to be a carefree kid on Cape Cod in July. Those carefree childhood summers don’t exist for kids like Susannah. Yet. For KIF1A families, and so many others living with rare genetic diseases, that is what non-verbal dialogue truly is. A helpless interpretation of the pain our kids feel and the overwhelming emotions inside of them. Feelings trapped inside quite literally dying to come out. (Pause) All the while we do everything possible to raise funds needed to urgently execute this well constructed, scientifically sound plan to bring treatment to Susannah and children like her. The science exists. We need your help. We need 2.5 million dollars, and that’s just to get the work started – so I’ll be back after we finish the first act of this play, together. I thanked my hosts for their time and handed them a folder of relevant data and publications. On my way out the door I remembered the picture in my wallet – a picture I carry of Susannah and Eleonora taken the day our families met. A moment captured when I glanced across the room and saw Sally singing “Wheels on the Bus” to our girls. The moment Eleonora smiled. (Pause) I turned to the people in that boardroom and just as I was about to show them the picture, I stopped. Instead I just smiled and walked out of the room. That moment is all mine for now. (Pause) I thought of Eleonora, Evie, Ryan, Brayden, Gustav and all the kids we’ve lost in the last three years – and I raced home to hug Susannah with all my might. Learn more about the KIF1A community and our urgent mission to discover treatment by visiting .

    Sally Jackson

    Finding a Cure for Your Child With K1F1A Disorder

    I was recently asked if I was confident that a cure for KIF1A would be found — and the way in which I was asked was very nearly a rhetorical question. “And you believe that a cure will be found, yes?” My answer, though, was not automatic. An enthusiastic “Yes, of course!” did not spring to my lips. But how could it not? How, when my husband has made the fight for a cure his life’s mission, how could I not say yes? How, with active campaigns funding the search for that cure, campaigns for which we have gratefully asked and accepted the monetary help of our friends and family, how could I possibly pause? But pause I did, and when I was able to speak, my response was shocking even to myself. It was a “no.” No, I don’t believe in that cure. However, that admission — and I know it dismayed the questioner — is not one of defeat. I am not hopeless, nor do I consider myself a pessimist. I am so very thankful for each of those donations, as I am understanding (or I hope to be) of every minute Luke spends in communication with the clinical and research teams, and my goodness, yes, I know it all needs to happen. But I couldn’t and still can’t say I believe in a cure, because to say or feel that would mean I would have felt one was needed. I would have to say and believe that my sweet girl needed curing. And I don’t. I look at her and I just see my girl, our beautiful daughter, our son’s silly sister, the extra-loving friend and devoted granddaughter. I see and feel every bit of her, and all that love, and all the attention  her body and being needs — it keeps me in the here and now. And what’s here and now, to me, is just perfect. I couldn’t imagine needing to cure a thing for this perfect girl of mine. Is that denial? Probably. Yes, I know we need a cure.  I know we must fight for it; there is nothing more important. And I think we will find a cure, sure I do. If anyone can get us there, it’s our research team, physicians, and the strong KIF1A families. So do I think we will? Yes, yes, yes. That’s all brain. But to believe? I can’t do that, because believing in something — that’s all heart, in my opinion. And my heart tells me to accept and adore my child as she is, and I can’t bear to believe that she will ever be anything less. Can there be any teachable lesson in this admission? I’m not sure, except I will say that I don’t think denial (I’m definitely practiced in it) is always a bad thing. Maybe allow your heart a little space from your head, and stop the inevitable downhill spiral from playing out in front of you like a bad movie you can’t stop watching. Turn it off, and be in the now. Love that child, every last bit of them, and immerse yourself in the world of tooth brushing battles and bedtime snuggles — whatever your “now” is, and however much of it you can get. I can’t let myself stop.

    Luke Rosen

    Why Having the Right Doctor at Diagnosis Matters

    A few months ago I was invited to speak to a group of medical students about KIF1A and how our daughter was finally diagnosed with such a rare condition. We spoke about the difficulty of accessing appropriate genetic testing, and the delay in receiving results. A student asked me if we had a positive experience with our medical team. Just as I was about to answer, the phone rang and I had to run off, leaving the important question unanswered. Below is an email I sent to the student the next day. Hi Tom, Thanks for including me in your busy schedule yesterday. A phone call and my rambling distracted from a question you asked — what was the beginning of an important dialogue. Sorry to have cut it short. I just had a few thoughts that I wanted to relay. I talked a bit about the difficult experience we had in the very beginning with hospital administration and getting our test results. That was tough, but really not my concern; nobody had bad intentions. The problem wasn’t one person or a team of people — the problem was communication and policy, something I’m far less interested in. It’s a battle that won’t cure my daughter and a fight not worth picking. You see, at the end of the day, it’s one doctor who we call on. Our daughter has a fleet of specialists weighing ion on every aspect of her care, but ultimately it’s one physician who we trust emphatically, and who answers the phone when we call. Every patient relies on a physician’s advice in the most stressful moments, those seconds when stakes are so high and panic floods every ounce of our bodies. Every parent needs that rock, that reliable person with years of training in their corner — but few patients have a doctor with the human and clinical skill set that is so vital in delivering life-altering and devastating news to parents like Sally and me. And that doctor, that friend, is in it for the lifecycle of our daughter’s disease. She’s on a mission to help us, and it started with the elevator. I realized early that in order to facilitate the discovery of treatment for Susannah, we need to build a community and find more patients. Our priority became getting kids access to genetic testing, thereby accomplishing two goals: building the patient group for physicians and scientists to study Susannah’s disease, and ending a painful diagnostic odyssey for other families. So don’t be fooled, my advocacy has a selfish impetus — getting everybody access to unavailable genetic testing. This will eventually be the key to understanding this mysterious gene and developing a strategy to deal with the mutation that is causing progressive loss of brain function for Susannah. I mentioned that difficult morning and the experience we had — the elevator door opening at Columbia, and how my wife and I were immediately surrounded by supportive counselors, social workers and a doctor who changed our lives, a doctor who will find treatment for Susannah. I realized recently that it actually wasn’t just having those people waiting when the elevator door opened that saved Sally and me that morning. A few hours later after the doctor told us about Susannah’s disease and after our lives changed forever, I realized it was actually the elevator ride out of the hospital. Dr. Chung didn’t say goodbye in her office and send us on our way, a farewell so many devastated parents experience. She brought us through the lobby, rode the elevator down with us and walked us outside. That was a gift. Guiding us out of the hospital and into a taxi with a hug was beyond measure. Walking out of the hospital, unable to breathe because of the realization that I will never dance with my daughter at her wedding would have been even more shattering somehow if Susannah’s new champion wasn’t right next to us from day one. So my answer to your question is that it’s all about the elevator, I guess. Who is there when it opens on the hardest day of your life, and who takes it down with you a few hours later is what matters. We know our doctor will be there for us from the diagnosis all the way through clinical trial and treatment — whenever that might be, and I know it could be a long time from now. I guess I’m telling you all of this because in starting our foundation and seeking out other KIF1A families to grow our community, I hear stories about parents who don’t have the remarkable care we have — who didn’t have that elevator. These families are left alone with a phone call explaining a disease with no name and a website to reference. It took some of these families years to get a diagnosis, and when they finally did, they were left uninformed and unprepared. I’ve realized it’s not about the institutional review boards (IRBs) and debates about data ownership, it’s about getting kids access to the tests they need and having a clinical geneticist who rides the elevator with you. I’m far from a physician or a scientist, and I’m sure you’ve heard all this before, but I thought your question deserved a better answer than the one I gave you yesterday: yes, we had a positive experience with our medical team. The problem with healthcare today is that our diagnostic experience is an anomaly. It is so far from industry standard to care deeply for a patient, to transcend the clinic, into the elevator and onto the street. If more doctors rode the elevator with their patients, maybe walking out of the hospital on the worst day of your life, into a new world with an unthinkable reality might be a little easier. Thanks for reading, thanks for your time. As ever, Luke Rosen We want to hear your story. Become a Mighty contributor here . Getty Images photo via Wavebreakmedia

    Luke Rosen

    Learning to Keep My Child Safe With a KIF1A Mutation

    Keeping our kids safe is every parent’s number one job. Even as an adult I associate protection and safety with my childhood home and my loving parents. It’s a great relief when our children finally learn where to go and who to find when they’re in danger. More than a relief, it’s a proud parental achievement worth celebrating: “We’re super parents! Our kids know where to go when they sense danger!” Mission accomplished — big exhale. When your kid has a rare neurodegenerative disease causing her balance to worsen every day, the safety of your home is constantly being put to the test. There is no relief, there is no deep exhale. There is only constant heartache with every face-first fall into the brick wall that she once used to pull herself up. When Susannah was a baby she would flop onto my shoulder and rest quietly for minutes at a time – it was heaven. I live for those shoulder flops. Just after her second birthday we were told this spontaneous cuddling was a symptom of her genetic condition that would eventually cause her to fall – a lot. Around the time of her diagnosis, we learned that our daughter’s seemingly intentional maneuver of affection was just another implication of her increasingly low muscle tone, or hypotonia. As she grows taller and her gait becomes severely ataxic, constant tumbles are a regular part of our new normal. Her daily bumps and bruises resemble those of a hockey player. I’m the luckiest guy in the world, for so many reasons. I’m blessed to have a thoughtful, funny, intelligent and kind daughter. The progressive nature of Susannah’s disease might steal away her speech and steps, but she will never lose the sincere and purposeful kindness that is cause for those quiet shoulder flops. I have complete faith in science; however, there are two things I am certain medicine has wrong: that there is no cure for Susannah’s condition, and that those divine shoulder flops have a clinical explanation like “low muscle tone.” She flops onto my shoulder because she loves me. She’s safe there, and she knows it. This morning, one of Susannah’s daily acts of kindness warmed my soul to the core. I was about to walk out the front door when she extended her hand and led me into the bedroom. When we arrived at her bed, she flopped herself onto the mattress and said my favorite words, “Daddy cuddle me.” Before the tears made it from the pit of my stomach up to my eyes, she pulled me onto the bed and we cuddled. One of the best cuddles ever. After a few minutes Susannah rolled over and said “Daddy, I come to bed because it’s safe.” Crushing. The tears returned to the pit of my stomach and became a nauseating feeling of paternal helplessness. Is her bed the only place in our home where she won’t fall and get injured? We haven’t taught Susannah where to go when she feels danger, her disease has. Does she only feel safe in the bottom level of a New York City-sized bunk bed designed to keep her from falling out at night? There’s no great parental achievement here, no deep exhale celebrating the accomplishment of that essential hurdle: teaching our kids where to go when they’re scared. That badge of honor doesn’t belong to us because we didn’t earn it, her degenerative condition did. When she’s having an especially wobbly day, Susannah knows she immediately needs to return to her bed, or into my arms. The labyrinth of our living room and its old, uneven New York floors is overwhelming. No matter how relentless we are about making our home accessible, Susannah’s movement disorder is responsible for teaching her where to go when she feels the danger of her changing coordination. I’m thankful to her disease for that — for doing my job in some strange way. For somehow teaching her to be safe. But I’d like to meet KIF1A in a dark alley and destroy that monster for stealing away our daughter’s sense of independence. It’s natural, as kids get older, for those precious extended hugs to become less frequent. That’s one of the deliciously sad parts about watching our children grow up. Not with Susannah. Her rare disease is cause for one of my most coveted parts of the day. Selfish, for sure, but if Susannah flops into my arms and rests her head on my shoulder because of a rare genetic anomaly, I’ll accept that. But that’s not the reason. You see, my daughter is a trickster. The real reason she leads me into her bed for a safe cuddle is because she inherited her mother’s beautiful tenderness. She’s more generous than she is cautious. She knows how amazing it makes me feel when she flops on my shoulder. Susannah is a superhero who can fly around the room — and I thank her every single day for deciding to land on my shoulder. And for staying there. We want to hear your story. Become a Mighty contributor here .