Lani Knutson

@laniknutson | contributor
Mom to two wonderful sons who have a rare form of Congenital Muscular Dystrophy (CMD) called SEPN1/SELENON related myopathy.
Lani Knutson

Feeling 'Othered' as the Family of Kids With a Rare Disease

Over the summer, I contacted the boys’ pediatrician to get her advice about sending them back to school this fall since our youngest was not old enough to be vaccinated. Her nurse responded that they recommend all kids to attend school in person this fall unless they are high risk. Since our boys fall into the high-risk category, she told me to contact their specialists. This past spring, an acquaintance (and pediatrician) ranted on social media that all kids should be back in school immediately since they were less affected by COVID-19 (this was before the Delta variant) and their mental health was suffering. I pointed out to him that we had chosen to keep our boys home for the entire year, because though their mental health was suffering, we didn’t feel we could risk their physical health. He told me we were in a unique situation and he was speaking for the majority of children. Early in the pandemic, when many states had enforced lockdowns, someone posted a meme on social media that said people who wanted to could stay home to protect themselves from the virus. It’s a free country, it said, and we have the right to choose self-quarantine. I explained that it didn’t feel like a choice or freedom to stay home for us. I didn’t get a response. The pandemic has made our family and others like us feel like a constant exception. The asterisk to the general rule. One of the things that’s not like the others. A small minority. This feeling isn’t new for us. Rare disease families and people with disabilities have experienced this “otherness” for a long time, way before the global pandemic. It’s felt when a highly-rated restaurant isn’t accessible so a person who uses a wheelchair can’t enjoy a nice dinner with friends. It’s felt when parents are told their child isn’t welcome at a school, because they couldn’t possibly provide for the child’s needs. It’s felt when an employer won’t hire a qualified, talented, and hard-working person who happens to have a disability because they think the person will be a liability. It’s felt when a church refuses to enforce any precautions against COVID-19 and doesn’t offer a virtual option so the family whose child recently had a kidney transplant can’t participate in a faith community that is important to them. I understand the inclination to make decisions based on the majority. But consider this: One in 10 Americans is affected by a rare disease. That’s about 30 million Americans. In the U.S., 61 million (one in four) adults live with a disability. In 2019, it was recorded that over three million children (4.3% of the under-18 population) in the United States had a disability. In addition, the U.S. has long been plagued with unequal access to health care, especially among people of color and people with a disability. Add people who are affected to common diseases such as heart disease or certain types of cancer and the group of people who can be considered “high risk” doesn’t seem so small anymore. Perhaps we need to stop thinking about these groups as anomalies and recognize their needs are greater than we can see from our limited view. Ultimately I hope you remember that these “exceptions” are people, families, human beings who are worthy of everything life has to offer. They don’t need or want to be pitied. They just want an opportunity to participate as a full member of society. Our family has decided to venture out into the world again. The boys will be attending in-person school. My husband and I are going back to the office. Not because the boys are no longer at risk for COVID, but because we cannot lock ourselves in our house forever. We are, of course, nervous about this decision but we will do our best to mitigate their risk of infection. If I’ve learned anything in the past year and a half, it is this: I cannot depend on other people to protect the health and well-being of my children. It’s a horribly cynical way to live, but here we are.

Tamara Cullere

The Loneliness I Feel as the Parent of a Child With a Rare Disease

Having a child with a rare disease like Hurler’s syndrome, we are extremely lucky as we have a huge network of support. We have had a ton of family, friends and even strangers surround us with prayers, support and positive energy when we face various complications and issues with our son. Additionally, I am part of the MPS community both in real life and on social media which provides me with a network of people who “get it” and understand the ins and outs of this journey on a deeper level because they live it too. I also have a large family and friends both in the MPS world and not in that world who I can reach out to when I need it. I am so grateful for the number of people I have supporting my son, myself and my family.  There are many avenues of support I can reach out to when I need it, yet I am still struck by how lonely I still sometimes feel on this journey. Loneliness is a funny thing — one day it slowly creeps over you and another day it just slaps you in the face. When your child is being diagnosed with something you have never heard of and cannot pronounce, it is hard not to feel alone. You are overwhelmed by the information coming at you from doctors and specialists. Being fully invested in learning about the disease, you do your research and then become the source of information for family and friends about the disease and your son’s journey. You try to share as much information as you can and try to stay positive for them, but at the same time, you want to be held up by someone who has walked the path before you.  You want to feel like you have someone to help guide you and even if you find people who have gone through this diagnosis, sometimes it still doesn’t help you feel less alone in the journey.  The downside to everyone having a different journey with the disease is that there are some surgeries/complications/issues that you might not be able to find someone else who has gone through it to guide you. There will be some cases where you are the first to cope with the issue in the unique way you do. There were many days/nights sitting in the hospital with my son while he was in pain or struggling that I felt alone. He needed and wanted me and I was trying to give him as much strength and support as I could but I felt so depleted myself.  I would update family and friends and try to keep things more upbeat and positive even if I was not feeling it. At times I felt like it was my job to protect everyone from the daily harsh realities of what we were going through. By doing that I found myself stuck with the bad thoughts, feelings and fears and felt even more isolated and alone. I am one of those people who is very bad at self-care, and even when family would come to give me a break, I did not always know what to do for myself. I knew how to care for my son, how to worry, how to plan, how to ask questions, but I did not know how to lean on others, ask for help, or sometimes even accept the help that was given. Even now asking for and accepting help and support is hard for me. Years after his transplant, I can still say there are times I feel alone. No one else is in the exact same position I am in when it comes to my son, his diagnosis and my other children. I feel like the responsibility of getting and processing new information, scheduling and planning appointments and a majority of the major decisions fall on my shoulders. Not to say my husband does not help, but I tend to be the one that carries most of the responsibility for my son’s rare disease care. This is on top of my roles as a mother, spouse, daughter, sister, employee and friend. I am grateful that I have gotten a little better at self-care and at sharing what I am going through, but in my experience, loneliness while coping with your child’s disease never really leaves you. You can be surrounded by tons of family and friends all wanting to support you and yet still feel like you alone are the one coping with the disease and dealing with the ramifications of the journey. I am grateful for my network and my support system, and it is no fault of theirs that this journey still has me feeling like I am fighting a battle by myself.

Community Voices

Be Careful What You Ask For

I realize that in American culture, the question is meant as a greeting and an in-depth answer isn’t expected. In the “before times”, I would have answered, “Great! How are you?” and probably not even waited for an answer. However, over the last year and a half it has become a loaded question.

In April 2020, I changed my answer to “Living the dream!” because we all were most certainly NOT living the dream. Also, this humorous answer preserved my ability to avoid giving a truthful answer. Lately my answer has depended largely on how much I trust the questioner, how much time I have, and/or how much energy I have to explain. Sometimes I just sigh and say, “OK”. Or I might say, “Just taking one day at a time.” If I’m really having a hard day or feeling snarky, you might catch me saying, “It’s a real s*@#show at our house right now.”

One of the nice things about the year of COVID is I haven’t had to answer the question “how are you doing?” very often on a daily basis. I generally only interacted with family, close friends, or colleagues-- all who have seen us through a truly terrible year and know the challenges we have been facing. On the occasional trip to the grocery store or pharmacy, I could hide behind my mask and avoid people I didn’t want to talk to.

I’m a little worried how I will respond to this question once I go back out into the world, and I am required to make small talk. Will I be able to simply respond “fine”? I suspect I might not be able to. A superficial answer just doesn’t seem adequate any more. A few years ago a friend introduced me to a podcast called Terrible, Thanks for Asking. (You should totally check it out. Amazing!) I’d like to be brave enough to adopt this answer because many days it explains precisely what I am feeling. I may also just “word vomit” a lot of thoughts and emotions onto the person posing the question. The result will probably be some truly awkward moments. I’m not sure I care all that much.

Consider yourself warned.

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Lani Knutson

When Doctors Dismiss Your Child's Symptoms as 'New Parent Anxiety'

At our older son’s 4-month check-up, we mentioned to his pediatrician that we noticed he only turned his head to the left when he laid on his back. We felt something was going on, but his pediatrician dismissed us saying that he was fine and he would grow out of it. She probably thought we were merely first-time parents with overactive imaginations. At his 6-month checkup, she finally acquiesced and referred us to a cranial facial specialist — but only because our son was developing a flat spot on his head from always laying on that side of his head. The visit to this specialist diagnosed him with torticollis, his first diagnosis, and prescribed physical therapy. After a year of physical therapy and little to no change in his neck muscle strength, we returned to the cranial facial specialist wanting to know why we weren’t seeing an improvement. He felt we needed to give it more time and that sometimes torticollis took a while to resolve itself. Nothing seemed out of the ordinary to him. Because of these experiences and so many more like it, I am so grateful for the doctors and therapists who did listen to us over the years. The physical therapist who, unlike the cranial facial specialist, agreed that we should be seeing more progress in therapy. Her referral to an orthopedic specialist eventually led to our son’s clinical diagnosis of congenital fiber-type disproportion myopathy. I’m appreciative of the pulmonologist who listened to us after we received the boys’ genetic diagnosis and ordered a sleep study, despite it going against her standard protocol. Even she, the best pediatric pulmonologist in the state with decades of experience, was shocked when the results came back and it became clear that both boys’ CO2 levels were dangerously high when they slept. I used to get upset when we met a doctor or medical professional who had never heard of SEPN1-related myopathy, but not anymore. It is an extremely rare disease. Now I’m thrilled when they realize I’m the expert in the room, and they need to listen to my opinions and ideas on care and treatment for the boys. We still need the doctors and their expertise. No question about that. But I have learned that in the world of rare disease, nothing beats a Mama Bear’s gut feeling.

Lani Knutson

Families of Kids With Rare Diseases on Surviving a Pandemic

On a normal day, I struggle with anxiety and depression. Now add a global pandemic with two sons who have a weakened respiratory system, and my anxiety gets turned up to 11 (any Spinal Tap fans out there?). Then a week or so ago (who knows when, time has no meaning anymore), I listened to a webinar put on by the National Organization for Rare Disorders (NORD) that helped me relax a little. One of the experts on the webinar reminded me that families of kids with rare diseases already have the tools to survive this pandemic. The more I reflected on this comment, I realized he was right. Hell, yeah! We got this! While our family hasn’t had to do all of these things, we know people in the rare disease and medically fragile community who have. Let me share their wisdom. When people were buying all the toilet paper and hand sanitizer, we didn’t run to the store. We already had a stockpile of hand sanitizer, disinfectant wipes, gloves and masks. In our normal life, we are always on the lookout for infection and ways to prevent it. We are the weird people who wipe the booth down when we go out to eat. Our children have hand sanitizer in their lunchboxes. We are always asking people to wash their hands. It’s just a way of life for us. We’ve already been given a shocking diagnosis and had our world turned upside down. With a chronic disease, you never know what is around the corner so we prepare for the worst. The other shoe could drop at any time. We have experienced long illnesses or long recoveries from surgery that require us to be in the hospital or to stay home for extended periods of time. We have had to make major adjustments to our lives for long periods of time. The minute our providers had telemedicine up and running, we were on it. Before COVID-19, we were using it to avoid germy doctors’ offices already. We have coping skills in place to deal with major crises, and we have a therapist on speed dial. Dealing with a chronic disease takes a toll on one’s mental health even if you don’t already have a diagnosed mental illness. We’ve probably already quarantined at least once before, and we definitely avoid crowds all the time. Some children can’t go to school during the flu season every single year. Some families choose homeschooling to avoid illnesses that most people don’t think twice about. Some parents take jobs so they can work from home to take care of their child who can’t go to school. We know how to give things up and adjust to new realities. We’ve given up careers, jobs, vacations, birthday parties, family gatherings — you name it, we’ve had to give it up and grieve the loss. We know how to navigate the health system. True, the health system right now is operating differently than usual. But we are experts at working with nurses, doctors, insurance companies, pharmacies and know how to fight for what we need. We know the questions to ask and where to look for answers. We are used to barring people from our homes. One mom in our community has had a sign on her front door for years that asks visitors to make it known if they are sick before entering the house. A sign like that doesn’t seem so weird anymore, does it? We already have a sick plan in place. If our boys get a cold or the flu, we mobilize. Inhalers come out of the cabinet, the Cough Assist gets fired up, the BiPap gets used more than just at night, and we have at least three specialists plus a pediatrician we can call for advice. For COVID-19, we can rely on Cure CMD and their cadre of experts from around the world if one of the boys should catch it. We understand how research works and why it takes so long to find a solution. We play the long game and have learned patience in the process. We are familiar with a world that doesn’t understand what our daily life is like and does not adjust to our needs. Some people just don’t know. Some are willfully ignorant. Many people are willing to put their needs above ours every time. If you think I’m making that up, you need to learn about ableism. We already have a support network in place. We can’t navigate this rare disease world by ourselves. We tried and it didn’t work. We have formed a village around us and can rely on them in a tough spot. While on a walk with our dog recently, I ran into a friend also walking her dog. From across the street, I casually mentioned that we were having a hard time getting distilled water for the boys’ BiPaps because the grocery stores were only allowing us to purchase one gallon at a time. A few days later, two gallons of distilled water were on our doorstep. Our team is already assembled. I’m sure the rare community could add more to this list but I think it’s already a pretty impressive list. For another perspective, I recommend this mom’s blog post “All alone. . . and finally included!” Writing this list hasn’t cured all my anxiety, but it’s a good start and it helps me remember the power I already have within me. I’ve been at this long enough to know I’m going to have my good days and my bad days. I’ll get through it as I always do. I mean, do I really have a choice?

Community Voices

Impossible Choices

We live in a place that tends to be cold, snowy, and dark in the first months of the year. I had been fearing the toll this might take on us as we continue to do school and work at home and limit our social interactions. This January was snowy but not terribly cold which allowed us to invite a few friends to sled on our backyard hill every weekend. This helped us avoid the inevitable post-holidays blues.

Then February came.

We hit a cold snap (think below zero) for several weeks, so going for our daily walks was not safe for our boys. Since we really had no where to go except doctor appointments and the grocery story, our house felt VERY small and everyone was annoyed. On top of that, we had to put down our beloved family dog, not because was old but because she was sick. She was only six years old.

A bright spot came when we had an excellent check up with the boys’ Pulmonologist, and they had their best Pulmonary Function Tests (PFTs) in a long time. But then, we had a hard check up with the Orthopedic doctor and were faced with some difficult realities and choices to make.

Now we mark the one year anniversary of the pandemic, and we are weary. I have decision fatigue because it seems we have to create a risk/benefit analysis for everything our family does. Mostly, I’m tired of being forced to make a choice between my sons’ physical health and mental health.

They miss their friends. They are sick of doing school at home, especially now as their classmates return to full time in person school. They are bored because they aren’t participating in many of their usual activities. They wish they could play with their cousins and see grandparents.

We’ve tried everything to make being home fun. I’ve consulted with doctors and therapists. I read anything I can get my hands on that addresses mental wellness in kids, especially during this time. We practice coping skills and regularly talk about our mood. We have a mental health check in board in the kitchen. We are doing ALL THE THINGS.

Yet everything continues to be hard, and my heart breaks to see them struggle.

So do we send them back to school and risk COVID to possibly improve their mental health? The choice is impossible to make and yet we are continually faced to make it.

This year has been full of impossible choices. I’m exhausted.

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Lani Knutson

The 'Holland Moments' of Parenting a Child With a Rare Condition

If you are a parent of a child with a disability or a rare disease, you’ve probably heard the poem Welcome to Holland. By the 10th time someone read it or mentioned it to me, I probably rolled my eyes. I’ve never been much for the schmaltzy and possess a healthy level of cynicism. Plus Welcome to Holland is a bit dated as our views on disability have changed since it was written in 1987. Nevertheless, I’ve been thinking about Welcome to Holland a lot lately, because it examines an experience I have had many times since our boys were born. In Welcome to Holland, the arrival of a child with a disability is equated with a trip you plan to take to Italy. You make all the travel plans, learn a few words of Italian, research where you want to visit, and get excited to see a new place. Then when you step off the plane, you find you have landed in Holland and going to Italy is not an option. You are not in the place you expected to be, and you can’t go back to where you came from. Rare disease, cancer, dementia. Anyone who has received an unexpected diagnosis for themselves or for their child can vividly recall that defining moment when the world turned upside down. First, there is shock, then there is grief, and then every emotion under the sun on repeat. Often, when the diagnostic process is long and circuitous, you are treated to several Holland moments. We’ve definitely faced many of them in the long eight years it took to receive a genetic diagnosis for our boys. The first one occurred when our oldest was 2-and-a-half years old, and I was pregnant with our youngest. Our doctors confirmed that he had a genetic muscle disease, and it was possible our unborn child also had it. Another came five years later when we received a genetic diagnosis through a research study we had enrolled in years before. The researchers had identified the mutated gene that caused their disease and were able to label their genetic disease. The Holland moments didn’t stop with their diagnosis though. I distinctly remember when our pulmonologist (a well-seasoned doctor) called somewhat panicked with the results of our oldest son’s first sleep study. Turns out he hadn’t been breathing well while sleeping his entire life, and his CO2 levels were way too high at night. He was 8 years old by this time. Holland moments come in other ways too. For me, it came when I realized I was not going to be able to raise my sons, attend to all of their needs, and excel in my music and teaching career. That moment wasn’t a moment though. It was a long, drawn-out process of realizing, learning and deciding. And now, here we are. We have all arrived in Holland. Our school life, work life, social life, hobbies, and activities have all changed forever. Like many of you, I have experienced grief, anxiety, disillusionment, loneliness, and despair at times. However, I’ve been at this long enough now to know that it’s not all bad news. Holland moments offer opportunity and growth. New life can spring forth — a new friend, a new truth about yourself, a realization about your family, a new appreciation for your abundance. I still struggle when I encounter a Holland moment, but I’m getting better at moving through the grief and looking for the next right step. I’m helped with the knowledge that no matter what happens, I can never go back to “normal” and I will never go to the place I thought I would go to. The best I can do is put on fresh eyes and put one foot in front of the other. If you have never encountered a moment like this in your life, let me be the first to say, “Welcome to Holland.” I know it’s hard. It will not stop being hard. I promise, though, it will be a lot easier if you keep looking forward and open yourself up to new possibilities. Holland is a beautiful place too.

Lani Knutson

To Parents Whose Child Was Just Diagnosed With Muscular Dystrophy

Dear parent of a newly diagnosed child, When our oldest son was 5 years old, we attended a Muscular Dystrophy Association (MDA) fundraising event. There we met a mother whose 17-year-old son has muscular dystrophy. We chatted during dinner, and as we were leaving to go home she said, “I know you don’t want to be here, but welcome to the family.” So now as the (somewhat) experienced mother of children with congenital muscular dystrophy (CMD), I say to you: Welcome. I know you didn’t plan to be here, but we are your new family. We will love you and your child! I know how overwhelming a diagnosis can be. We struggled for years to find one for our sons. Then when we found it, it felt simultaneously like a blessing and a curse. We were relieved of the uncertainty we had felt for years, but we were faced with a diagnosis that had huge implications for our daily life as well as our future. So much new information to take in. And if you are like me and don’t have a degree in medicine, you are faced with the task of learning a new vocabulary, a new set of ideas, and basic genetics. Give yourself time. Be gentle with yourself. I think that as a parent you have to take in the information that will help your child and process your own feelings about it. These tasks are two completely separate things. I definitely went into “go” mode with my boys after their diagnosis, focusing on appointments, figuring out how the medical equipment worked, researching anything I could find on SEPN1, dealing with insurance. You don’t have a choice with this step. You have to do it. And then when you have a moment, think about yourself and how you feel about the situation. When I stepped back to think about the diagnosis, I fell into the cycle of grief. Acceptance did not come quickly and some days I fall out of that place easily. It’s OK to feel what you are feeling. You are not being selfish if you feel angry or not eternally grateful for the diagnosis and modern medicine. You may ask why and that is normal too. However, I can tell you right now that there is no good answer to this question. When you are ready, please connect with others affected with the same disease. If it’s SEPN1, you can find us on Facebook. We may be a small group of people but we are mighty. We come from all over the world with so many different SEPN1 stories. We can truly say, “We get it.” No explanation necessary. Doctors are essential and many are a huge blessing to us, but they do not live with your diagnosis every day. We know the tricks and tips of using a Bipap and a Cough Assist. We can give recommendations on which wheelchair to purchase. We can send you pictures of our kids with their Bipap on when your kid feels like she is the only one who has to wear it. We can send you encouraging messages when your child has spinal fusion surgery. We will support you. I don’t know what the future will hold for your family. You may have many shitty days ahead of you. You can also look forward to days filled with joy and hope. Most days will be a combination of both shitty and joyful. I do know that you will find strength you never thought you had. You will dig deep, put one foot in front of the other, and face another day even when you think you can’t. You will find your tribe who will support you, encourage you, and show up for you when it all becomes too much to handle. So take a deep breath. Stop Googling. Give your child a hug. Cry. Go for a walk. Grieve. Pray. Find what peace you can. Again I will say, Welcome. I am so glad to meet you. I am rooting for you.

Community Voices

Tricky Questions

One evening about a year ago, my husband and I sat down to watch the movie www.imdb.com/title/tt2543164, based on the short story “Story of Your Life” by Ted Chiang. I had heard a little about the movie and knew it was about aliens. I don’t usually get into alien movies, but Tim had seen the movie already and thought I would like it. I indulged.

By the end of the movie, I was sobbing. I almost never cry at movies.

The main question posed in the movie, figuratively and literally by the main female character (played by Amy Adams), was “If you knew what was going to happen in the future, would you go through with it?” Because of the powers that the aliens show her, Adam’s character is able to see both the past and the future simultaneously in an unending loop. I know, a little meta, but I promise it makes sense in the context of the story.

The reason this question is difficult for Adam’s character is because she has a daughter who falls terminally ill as a teenager and dies. The part that reduced me to a blubbering mess was her answer. Her answer was “yes”. Even though she knows how the story will end, she still wants to fall in love, get married, and give birth to her child she knows will die less than 2 decades later. Hits a little close to home.

This is a question I think about frequently. If I knew what was going to happen with my sons, would I continue down the same path? Would I marry my husband who has the same mutated gene as me? Would we still decide to have children?

Tricky questions.

Happily our society is beginning to view differences in ability as providing a more rich and diverse collection of people. I wholeheartedly agree. Life is richer surrounded by people of all kinds. In so many ways, SEPN1 related myopathy is shaping my sons into who they are and who they will become. So, would I take their disease from them if I could? Tricky question.

I’m in good company in asking these questions. A friend of mine has a son who is autistic, and sheautismic9.blogspot.comchronicling their life with him and autism.autismic9.blogspot.com/2015/03/vaccine-against-autism.html, she wrestles with the question, “If there was a vaccine for autism, would she give it to her son?” She explains that she is hesitant to say yes because autism is a part of what makes her son his lovable self. Obviously autism is different for everyone, but for her son he isn’t in pain and leads a generally “normal” life. Is autism a problem that needs to be fixed? Tricky question.

Recently a high school friend who has a child with Down Syndrome www.youtube.com/watch. In the video a father, who also has a child with Down Syndrome, responds to comments he overheard while shopping. The most troubling comment to him was that Down Syndrome is an illness. The father in the video responded “Down Syndrome is literally the most beautiful thing that has happened in my life. It is not an illness. Or even a disability.” Would this father take away his son’s Down Syndrome? Doesn’t sound like it. But Down Syndrome can bring complicated medical issues. Every case is different. Would another parent respond differently? Tricky question.

As I consider these questions, I admit that I am not the same person I was 20 years ago. The essence of who I am has been shaken to the core. I am a type A personality that needs to control everything. Now, I’ve learned I just don’t have the energy to care. oursepn1life.wordpress.com/2018/03/20/giving-up I have developed a deepening level of compassion, because I have been shown compassion by so many amazing people we have met on our journey.

Our family has been on two once-in-a-lifetime trips because of Make-A-Wish. We’ve gotten to know people from all over the world because of SEPN1 related myopathy. We’ve met with extremely smart doctors, researchers, and clinicians who want to hear from us and to learn from our experience.

Each year we hold a fundraiser to raise money to support research for SEPN1 related myopathy. In 7 years, we have raised almost $100,000. Every year I am blown away by the generosity of people. Even if they don’t have a lot to give, they give any way. I am a richer and more complex person because of SEPN1 related myopathy. So for me, the questions boil down to this.

If I had known then what I know now,

Would I have refused to marry my husband?
Would I have decided not to have children?
Would I be OK living without ever having met my sons?

Those questions get a hard no.

But . . .

Would I give up all the wonderful experiences we have had as a family?
Would I give up on the amazing trips we have taken?
Would I give up the new friendships we have made?
Would I change the core of who my children are?
Would I deprive our community the opportunity to learn about disability and diversity?
Would I walk away from all of that so that my sons could have been born without SEPN1 related myopathy?

This answer, without a moment’s hesitation, is yes. A thousand times yes!

The reality is that SEPN1 related myopathy is a life threatening condition. Both of my sons regularly deal with physical pain. They endure endless doctors appointments in which many times there are no real answers, just band-aids on symptoms. They face realities that no child should have to face. They are wise beyond their years. Maybe you don’t feel the same way. And that’s OK.

Tricky questions don’t have easy answers.

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Lani Knutson

X-Ray Results: Child With SEPN1/SELENON-Related Myopathy

We wind our way up the parking ramp at Children’s every six months. After parking, we make the long trek on foot through the skywalk, through the clinics building and to the farthest end of the hospital. Trepidation builds with each footstep. They may as well pipe in Berlioz’s “March to the Scaffold” from Symphonie fantastique to accompany our walk to the Orthopedic department. When we arrive we start with X-rays which only take a few moments because we are now pros. We wait to be called back to a room where we see a nurse, a PA and the doctor separately in that order. Sometimes a medical student or a resident tags along as well. The PA pulls up the X-rays on the computer screen, opens up the measuring tool and clicks in rapid fire while plotting points on the photo of their spines. We all hold our breath and think, “Does it look the same as the X-rays taken six months previous? It looks a little worse, but how much worse?” She turns, smiles and says the doctor will be right with us without commenting about the X-ray. The doctor arrives with smiles and handshakes for everyone (pre-COVID, of course). He settles into his seat and begins clicking furiously as he adjusts the measuring tool. Our anxiety surges. He announces the verdict. My younger son’s curve is still very mild, less than 10 degrees. My older son’s is over 30 degrees as before but not much worse. Only a few degrees worse. We exhale in unison. We have been granted a stay. We have a little bit longer until we face the thing we fear the most. We hold it together until the doctor leaves. Then, sometimes, my older son starts to cry. Usually when the curve has gotten more than 5 degrees worse. He knows what’s coming. We all do. And we all dread that day more than anything else. The day the doctor decides it’s time. Time to schedule the surgery. It’s not a matter of if but of when. The statistic is indisputable — the majority of those affected by SEPN1/SELENON-related myopathy have spinal fusion surgery at some point in their life. A surgery so complex that it will require consulting doctors from other states, a long hospital stay, a leave of absence from work and school, and long arduous days and months of healing. We will return to this place again, hoping for another extension. All the while knowing, inevitably, the other shoe will drop. There is very little we can do to stop it. Follow this journey on Our SEPN1 Life.