The Other Shoe

Being a caregiver is hard. It can be emotionally and physically draining. It can also be confusing. For me, not only am I mom to my boys, I am also their nurse, physical therapist, respiratory therapist, dietician, mental health specialist, and CEO of their complicated health. This year we’ve added teacher (of all subjects) to the list. Normally we rely heavily on our village to parent and care for our boys because we know we cannot do this alone. However, in this pandemic year, we have had to keep the boys away from most people in order to keep them healthy and safe. We are grateful for the help we have received from others in the past year when they were able. We are thankful that many people have been careful and stayed away without us asking. The result, though, is that all of the boys’ needs are being met by my husband and I. It’s exhausting and, frankly, lonely.

In this state of mind, even more challenges were presented to our family.

Last fall, I wrote a piece on this blog called Holding Our Breath in which I describe the dread we feel every time we go to a check up with the orthopedic doctor. Well, in February, the dreaded words “It is time” were spoken. Our older son’s scoliosis curve changed from 35 degrees to 52 degrees between visits. The curve is now affecting his mobility and his ability to breathe. It is time for spinal fusion surgery.

We were devastated, and our son was terrified. It took me a good week to work through the reality that, with so little in my tank, we would have to face a major surgery with several months of recovery. I couldn’t talk about it with anyone but my husband and two other SEPN1 mama bears. Though we always knew this day would come, I couldn’t help but ask, “why now?” I mean, how much more can we take?

Then I did what I always do. I went into “go mode”. My husband and I set up a follow up video visit with the surgeon to understand what exactly the surgery would entail. I consulted with our patient organization, Cure CMD, and asked for advice. I emailed the boys’ pulmonologist. We had long conversations about it with both of our sons. We slowly started telling our immediate families.

After a lot of consideration, we scheduled the surgery for June. Fifty-two degrees is bad but doesn’t make the surgery urgent. However our son wants to be healed so he can start high school in the fall. He’s still doing school virtually which makes the many pre-op appointments easier. He’s the healthiest he’s been in years because he has been away from all the germs this year (COVID and otherwise).

So here we are. Preparing for what will most likely be the biggest surgery of our son’s life. While still in (though slowly creeping out of) a pandemic. While feeling depleted. While dealing with other treatable but not insignificant family health issues, including my ongoing anxiety and depression. But that’s the thing about rare disease. It doesn’t care about your timelines or hopes or plans. It will drop that other shoe whenever it damn well feels like it.

Text says "She's standing on a line between giving up and seeing how much more she can take. - John Mayer"

A few people have already asked how they can help us during this time. We will definitely need help but I’m just not sure what help we will need. I do know that we will take all the prayers, thoughts, good vibes, love and light, and positive energy you can offer. I will give updates on this blog and on the Our SEPN1 Life Facebook page. Thanks for being our village.

Resocialization

A path leads away toward the mountains in the distance. The sky is cloudy and a fog covers the mountains. An old wooden fence is in the foreground.

A couple weeks ago, we took a trip to the Great Smoky Mountains in Tennessee during the boys’ Spring Break. Goodness, did we debate if we should travel or not. Tim and I are fully vaccinated (yay, science!), but obviously the boys are not. We all continue to work and do school from home because we believe it is the best decision for our family. We are still hyper vigilant about masks, handwashing, and not going out, so taking a trip seemed to be counterintuitive. In the end, our mental health won out. We are so sick of being at home. I mean, we love our house and yard and neighborhood but we were done after a long winter at home.

More than other trips, this one required a lot of prep. We booked a cabin so we would be staying in a building by ourselves and did some cleaning when we arrived. We spent most of our time outside hiking or taking scenic drives in the National Park. We researched which restaurants were taking COVID seriously and ordered takeout from them. Thankfully, the restaurants we found served some good southern BBQ and fried chicken. Also, I am now a sweet tea convert. In a normal year, we would skip all the tourist attractions outside of the National Park. They really aren’t our style. We DEFINITELY skipped them in the middle of a pandemic with their huge crowds and 30% mask wearing.

In the end, we were glad we made the effort and took the risk. The change in scenery was just what we needed to get our minds off of our not so awesome reality at home. Time in nature refreshed us, and the sunshine lifted our spirits. The beauty of those mountains renewed our spirits.

Tim, Peter, and Michael stand on a wooden bridge with a stream rushing below them.

We did have a few moments of COVID panic and it was obvious that we had not been around people much in the past year.

I forced my younger son to pack pants for the trip and not just the pajama pants he has been living in this winter. We discovered that one pair should have been discarded long ago when one morning he got dressed and found they were about four inches too short. He simply hadn’t worn them in a year. Clearly we need to remember how to dress ourselves to be in public.

Our older son had a lot of anxiety about being around people even if we were outside and masked. A few times we had to skip a hike or activity because there were a lot of people there and Peter wouldn’t get out of the car. Clearly we need to remember that many people do care for us and want to protect us. We’ll have to start with familiar people when we begin going out into crowds again.

I was on high alert whenever we were around other people. I was constantly navigating the boys away from crowds and people without masks. I tried to be friendly with those who wanted to talk but kept my distance from them. Clearly I need to remember how to trust people.

When we re-enter our more usual life, I do hope you will be patient with us. We will need some space for mental health recovery. We will need to dust off our social skills. We will be real awkward. We will need to find pants that fit.

The four of us taking a selfie in front of a rushing river. Trees line to opposite bank.

Kind

Sometimes it takes only one act of kindness and caring to change a person's life. - Jackie Chan

The line was seven cars deep when I arrived but I didn’t care. I welcomed the time to sit in silence by myself and breathe, even if it was interrupted every few minutes with the need to inch the car forward. The house had seemed very small that morning. The preceding week had been rainy, making it hard to get outside for fresh air and a break from the people at my house. Virtual school had been rocky at best that week, and I was drained. Though the few bags of too small clothes didn’t urgently need to be taken to the thrift store, it made a good excuse to drive away for an hour.

The man receiving the donation was working fast to clear the Saturday line of donors. Each time a new car pulled under the covered awning, he rolled an orange cone behind the car which instructed the next driver to remain in their car when it was their turn. The man briefly spoke to the driver and offered a receipt. He then unloaded the bags, boxes, and items from the truck or back seat of the car. 

When I was next in line, I put on my mask and turned down the radio. I pulled up as instructed and rolled down my window. I declined a receipt. I popped open the trunk expecting the man to bustle to the back of my car as he had done with the others. But instead he paused, looked me in the eyes, and said with generosity, “Thank you for wearing a mask.”

“Of course!”, I replied exuberantly. “Have a great day!”

“You too.”

Then he pulled the few measly bags from my trunk and slammed it shut. I pulled away from the donation area as tears welled up in my eyes.

The short exchange with the stranger had felt so profound, so full of meaning. An acknowledgement that we are looking out for each other during this hard year. His kindness was meaningful because I had interacted with so few people in person that week. I’m grateful to him for that simple moment of humanity. He gave me energy to keep fighting and keep moving forward. 

On the way home from the thrift store, I went through a Starbucks drive through for a Caramel Macchiato just to do something that felt “normal”. Armed with caffeine, a clear head, and a full heart, I returned to my home that felt bigger somehow. 

Six Things

Six Things I Have Learned While Raising Two Boys with SEPN1 Related Myopathy

  1. The questions “Why?” and “Why me?” cannot be answered. Some people might try to explain our situation away with religion, karma, or luck, but I find those answers to be trite and insufficient. The chances of two people with the same rare mutated gene falling in love, getting married, and having children is hard to calculate. Sometimes life just is.
  1. There are a lot of wonderful, good hearted people in this world. Our family has received irreplaceable support from family, church family, friends, doctors, researchers, and caregivers who only want the best for our boys. These people have opened their hearts to us, listened to us, rooted for us, and continue to stand by our side. 
  1. There are a lot of jerks in this world. Sometimes people don’t mean to be jerks nor act maliciously. They simply don’t know what to say or do when faced with our hard reality. But sometimes people don’t care about anyone but themselves. They will do anything in the name of self preservation, and they don’t care who they hurt in the process.
  1. Doctors don’t know everything. I routinely have to explain our sons’ disease to medical professionals who are not on our regular team of doctors. They have never heard of SEPN1 related myopathy. Early on I thought they were bad doctors, but this isn’t the case. They’ve never heard of it, because it is ultra rare. With over 7,000 rare diseases, no one could possibly know about every single one. Plus this disease (like much of science and medicine) is constantly unfolding. We are all learning as we go as genetic technology changes and advances. As long as we have doctors who are willing to learn, we are on a good path.
  1. I will never know what it is like to have SEPN1 related myopathy. Like all parents, I cannot walk the road my children must walk. They will face many obstacles and life events that I will never face. My experiences will not be their experiences and vice versa. This fact is devastating to me because of course I want do the hard stuff for them. I’m learning to accept my limitations. 
  1. I am one bad ass mother. I have summoned strength I never thought I had. I have lived through situations that I thought were impossible. I’ve had a tremendous amount of help and support, but when it comes down to it I’m their mother and the only one who can do certain things for them. So, watch out. This momma bear is always on the prowl.
Drawing of the side view of a bear.

A Very Short Story

A few years ago, I was asked to join a writing circle. I was just starting my blog at the time and thought it would be a great way to hone my writing skills. Our group affectionately named Bird by Bird (inspired by the incomparable Anne Lamott) consists of six women who are brilliant writers, editors, and cheerleaders. This month we challenged ourselves to write 50 word stories inspired by 50 Give or Take. I thought I’d share one of them here. Enjoy!


Glances

I realize we are quite the sight but I could do without the double take, the surprised stare. Or worse the look of pity. When they see the Make-A-Wish button, they smile knowingly and take it as an invitation to talk.

I just want to enjoy my vacation.

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 she 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.

A drawing of a woman who is slumped over looking exhausted with a power icon next to her showing low battery.

Rare Disease Day

rarediseaseday.org

In the Congenital Muscular Dystrophy (CMD) world, we know our disease is rare. And if you look at the numbers in each subtype such as SEPN1/SELENON related myopathy, the groups become even more rare. Living with a rare disease such as CMD can be challenging and isolating when you are the only person in your city, area, state, or even country affected by CMD. 

Fortunately we are not alone.

Rare Disease Day was created by EURORDIS (The European Organization for Rare Disorders) and was first launched in 2008 with the Council of National Alliances. The National Organization for Rare Disorders (NORD) organized the first Rare Disease Day events in the US a year later. The objective was to build a global awareness campaign to help bring rare diseases to the spotlight. The date February 29 was chosen because, as Leap Day, it’s rare! In non-leap years, Rare Disease Day is celebrated on February 28.

With an estimated 350 million people worldwide and 25-30 million Americans affected by a rare disease, the message of Rare Disease Day is that rare isn’t rare. Despite the differences among each unique disease, many in the rare disease community share similar diagnostic journeys, limited access to information and treatment, and so much more. Rare Disease Day is a chance for us in the rare disease community to shine a light on our unique struggles and the work that needs to be done to find treatments and cures for rare disease. There are over 7,000 identified rare diseases and counting, but less than 10% of them have FDA approved treatments or cures. And because of their rarity, medical research can be difficult.

Think of it this way. A vaccine for COVID-19 was developed in less than a year because

  • Vaccines have been around for hundreds of year.
  • Doctors and researchers have known about and worked with similar respiratory diseases for several centuries.
  • The world’s best researchers were all working on a vaccine.
  • Everyone can be affected by COVID so a trial can include a lot of people.
  • Huge amounts of money were invested to develop the vaccine.

Conversely, for SEPN1/SELENON related myopathy,

  • Treatments for similar neuromuscular diseases do not exist or are just being developed.
  • The mutated gene for SEPN1 related myopathy was discovered less than 10 years ago.
  • Only a handful of researchers are working on SEPN1 specifically.
  • A SEPN1 study can only include a small amount of test subjects because it is an Ultra Rare Disease.
  • Limited amounts of money are being invested.

That’s a pretty steep hill to climb but there is hope! This short video created by another Rare Disease community sums it up nicely. Join our family in celebrating Rare Disease Day today and show that you Care about Rare!

Just Breathe

I had the great honor to be a guest blogger on Paint Her in Color, a website dedicated to supporting parent of children with special health care needs. Taking care of yourself when you are a caregiver is so important. In the post, I shared one technique I’ve added to my self care routine this past year. Check it out!

My Journey

I never intended to get involved in politics or to become an advocate.

But then . . .

  • My children were born with a rare form of Congenital Muscular Dystrophy for which there are no treatments and no cure.
  • Our family experienced ableism for the first time when my youngest son was dismissed from a private school because of his disability.
  • We had to fight to have genetic testing covered by our health insurance, and I routinely watch other families fight to have their insurance pay for medically necessary and doctor prescribed equipment.
  • I heard the stories of other families affected by rare disease and related to their stories of long and expensive diagnostic journeys. 
  • I listened as the lives of my children were disregarded in the midst of a global pandemic.

And then . . .

  • I realized that most of my elected officials didn’t represent my views or the needs of my family. . . at all. In some cases, they were working against us.
  • A group of neighborhood moms started meeting at Walter’s, the local dive bar, on Sunday nights to discuss politics and how we can work to have our voices heard. 
  • I struggled with mental illness, but was finally able to shake the shame of it.

And especially when . . .

  • My eyes were opened to the horrors and injustice of racism, including in my own city.

I was raised in and continue to practice a faith that instructs me to care for “the least of these.” How can I be silent?

What’s Next?

Maybe it’s the turn of the calendar or maybe it’s the roll out of the vaccine, but I’ve started letting myself think about what life might be like after the pandemic. These past months our family has trimmed our life down to the bare essentials: work, school, sleep, eat, and play. Most of this activity has occurred with just the four of us within the four walls of our home. This new daily routine has been hard, very hard, but in some ways it has been freeing. I’ve been given the time to ponder my life and our world, to process past trauma, and to forge new ideas for the future. Now, before life fills up again, I have the luxury of thinking deeply about what I want to allow back into my (and our) life and what I want to discard for now or maybe even forever. I’ve chosen to view this time of quiet, solitude, and growth as an opportunity to be intentional – to meditate on what deserves my “yes” and my “no.”

I began to learn how to live in the present when my children were born with a rare and life threatening neuromuscular disease. To maintain my sanity, I needed to realize that when the future is unknown and uncertain, you only have today. You will drive yourself crazy if you constantly think about tomorrow and what might happen, especially when facing a rare disease with little research and data to rely on. Now, during this time of pandemic, planning a week in advance seems extravagant when plans can change in an instant with a positive test or a possible exposure. We, like everyone else, have had to live with extreme flexibility which can be unsettling but also an invitation to go with the flow.

Here are a few of the lessons I’ve been learning during this most unusual of times.

  1. Self care: This fall I started to doing yoga regularly. I’ve read a lot more books than I usually do. Just a few weeks ago I started meditating on the advice of my therapist. I rest more when my body and/or brain is tired. I judge my day less on productivity and more on the satisfaction I felt in the activities I engaged in. Don’t worry. I don’t always get it right. There are plenty of nights when I binge watch Netflix and eat a bag of potato chips to assuage my anxiety.
  2. Real conversations: My tolerance for bullshit has decreased significantly this past year. I’m not interested in small talk most days, and I’m not going to let your comfort get in the way of me telling my truth (or even THE truth). I’m definitely not proposing unkindness or a refusal to listen to others. I need to hear your stories too. However I am trying hard to be my true and authentic self with everyone, a skill that has taken me a lifetime to develop.
  3. Relationships: If we have learned anything this past year, it’s that one’s true colors are revealed in a crisis. I have been shocked, dismayed, befuddled, and hurt by what I have seen in people I have know for many years and who I believed cared for me and my family. I’m not going to cancel you just because we disagree. That’s not helpful. However if your actions and words are consistently hurtful, I’m going to say buh-bye. I don’t care if you are related to me. Conversely, I will reach out more to those people who fill my cup, who show their care and love through actions and not empty words, and who believe together we can create a loving and hopeful future.
  4. Busyness: Oh, boy. This is a hard one for me. I spent a lot of my life striving. . . to have a significant and meaningful career, to be a perfect mother, to be all things to all people. It was and is exhausting. Over the past few years, I’ve slowly learned to reframe my thinking about my commitments and what gets my time and energy. The pandemic has accelerated this lesson and has put me to the ultimate test. I’ll never put this struggle to rest but I’m learning.
  5. Advocate: I am compelled by my life experiences, my care for others, and my Christian faith to fight against injustice in all forms. A few years ago, I started advocating more for my family and for families like mine who are affected by a rare disease. I feel a renewed call to continue this advocacy and to widen my efforts to other marginalized people.
  6. Control: Another big challenge and lifelong struggle for me. To learn, that I can only control what I can control. Every day I will do my best to bring light to the world around me, but I can’t change everything, all the time.

Like with any new year resolution or decision to do better, I will not live up to these aspirations every day or even at all. However I think it is easier to approach life with purpose and intention when you have a clear idea of the direction you want to go.

When Tim and I got married, Tim was the director of a camp on the border of Minnesota and Ontario, near(ish) the town of Grand Marais. We loved stopping by a small gallery in town that sold art from local artists. One piece by Ahnisnabae artist Roy Thomas caught Tim’s eye, so I bought it and had it framed as a gift for him. This piece of art hangs above our fireplace as a constant reminder that was are in a continual state of becoming. Each new day presents us with an opportunity to do better and to be better.

In the artwork, the drawing of a man is slowly transformed into a bird over 4 separate drawings. The man is clothed in brightly colored garments.
Better Than Myself from Yesterday – Roy Thomas

Though the immediate future is uncertain, I’m excited for the new possibilities that lie ahead this year. I look forward to new lessons to learn and new opportunities to change and grow. Our family will need to make a slow slide out of our pandemic life. That’s just fine with me. I’m going to seize this moment to make calculated decisions about our future.

What are you learning? What changes are you making as a result of the pandemic. I’d love to hear from you! Send me a note or leave a comment below.

Happy New Year!