You Can Never Go Back

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If you are a parent of a child with special needs, 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 the poem is a bit dated as our views on disability have changed since the poem was written in 1987. Nevertheless, I’ve been thinking about this poem a lot lately, because it examines an experience I have had many times since our boys were born.

In the poem, 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 a shocking 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 8 years it took to receive a genetic diagnosis for our boys.

The first one occurred when our oldest was 2 1/2 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 5 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 that 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 been disrupted. Like you, I have been feeling grief, anxiety, disillusionment, loneliness, and despair. 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.

Am I My Brother’s Keeper?

Then the Lord said to Cain, “Where is your brother Abel?”

“I don’t know,” he replied. “Am I my brother’s keeper?”

Genesis 4:9

I don’t talk about my faith much on my blog, but I am a Christian and have been my whole life.  I don’t avoid this part of my story because I’m trying to hide my faith. I just know that not everyone has had a positive experience with Christianity, and I don’t want that getting in the way of you hearing our family’s story.   

I am proud of my faith lineage handed down by my parents, grandparents, and great-grandparents. As a child, my parents took me and my brothers to church every Sunday, and now Tim and I do the same with our children. I’ve been singing Jesus Loves Me since before I can remember. I grew up memorizing verses like Matthew 22:37-39.

Jesus replied: “Love the Lord your God with all your heart and with all your soul and with all your mind. This is the first and greatest commandment. And the second is like it: Love your neighbor as yourself.”

So you can imagine my confusion when a self confessed Christian recently told me that she has great compassion for people at high risk during our current global pandemic crisis, but that she is not responsible for my family’s health and safety. Her only responsibility, she claimed, was for her own family. Her long diatribe, which included many assumptions about me that are not true, felt less than compassionate and left me feeling hurt and attacked.

Of course this dialogue occurred on Facebook, where all good debates occur (note: sarcasm), after I expressed frustration over the uncertainty of when our family will be able to end our quarantine. I won’t go into details here, but you are welcome to read the dumpster fire that was on my Facebook page. 

I was pretty upset about the exchange for a lot of reasons, but my husband Tim helped me see the bigger picture. His response was to quote the Genesis verse above. He, having a degree from a seminary and generally being a smarty about theology and churchy stuff, said, “This has been the question for all of time, hasn’t it?” Though I don’t often admit it, he was right. Cain was only the first story in the Bible to ask, “Am I responsible for other people?” Also Cain was trying to hide the fact that he had just killed his brother Abel, but that’s a whole other ball of wax. Many of the Biblical stories that followed the story of Cain and Abel also pose this question, and God is pretty clear in His answer to it. 

As I processed my thoughts and feelings about the Facebook “friend’s” words, I started thinking about love, community, and responsibility in today’s terms. These concepts, while always important, seem even more urgent right now. 

Our family is fortunate to be surrounded physically (well, not right now of course), emotionally, and spiritually by people who DO think they are responsible for other people. Recently, we have been blessed by people checking in on us, making sure we have the supplies we need, sending cards and notes of encouragement, sending flowers, dropping off gifts, and so much more. We are of course not the only family experiencing this great love and care. There are endless stories of people struggling right now who have been blessed by someone else’s kindness.

So whether you are motivated to love your neighbor by your faith, your values, or you simply want to be a good person, I encourage you to look around and ask, “How can I care for others?” I know I’m struggling to see outside of my own needs, anxieties, and duties right now so I get it if you are too. You have to take care of yourself. But if you have extra energy, the people around you need you. Caring for others doesn’t need to be expensive or time consuming. It can be as simple as a friendly smile.

These are complex times that require complex solutions. I have no delusions that we have an easy, clear cut path to follow. Sometimes the needs of one group are in direct opposition to the needs of another group. It’s hard to know whose needs are more important. I asked that question just over a month ago on this blog, and I still don’t have an answer. 

I also want to say that I don’t tell my story because I think it is the most important story or that it is more important than yours. I tell it because it’s the only one I have to tell, and I think my boys’ rare disease story offers a unique perspective that you may not have encountered before.

Maybe though if we listen to others’ stories and believe their need is real, we can start our interactions in a place of love. The “other” is less demonized when we do that, and the world becomes a lot more grey. We find out that people are just people even if we disagree with them.

I’m sure some of you think I’m naive or that I live in la la land. The truth is I simply believe that love, more specifically God’s love working through us, is truly that big and powerful.

I’m realizing that people’s true colors are difficult to hide during a crisis. Well, these are mine, and my faith has played an prominent role in shaping me and my view on the world. Because of it, I’m choosing to care for others when and where I can. I hope you will join me.

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Learn from the Experts

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 Rare Disease and Medically Fragile families 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 acting like crazy people and buying stores out of 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 look out 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 anytime.  
  • 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 doctor’s office 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 home schooling 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 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 3 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 Rare 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?

 

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It’s not about you.

As a music teacher, I’ve encountered a lot of microphones and sound systems. Concerts, musicals, plays, recitals . . . they usually require some sort of amplification. Also, I’m a firm believer that, regardless of the room size or the audience size, a microphone is a good idea so everyone can hear. And every time I use a sound system or am in an audience where one is being used, I can count on someone standing up to speak, being given the mic, and saying, “Oh, I don’t need that. I have a loud voice.”

I work for an organization that employs people who are blind or visually impaired. Once a month we all get together to eat lunch and hear updates from leadership. Recently we invited a guest to this meeting to share about the braille services organization she leads. She, a person who is blind, stood up and declined the microphone because “she has a loud mom voice.” True, the room was small, and I didn’t have a hard time hearing and understanding her. However several of my coworkers have a hearing disability and rely on the sound system to hear what the speakers have to say at these meetings. They don’t hear the message if the mic is not used.

I don’t tell this story to pass judgement, but to illustrate how we sometimes forget to consider a perspective other than our own. This woman would not hesitate to ask for assistance due to her visual disability, but she didn’t consider that maybe the microphone was to help others with a different disability. A few months ago, I read an opinion piece by a woman with hearing loss who wrote about this very situation. I encourage you to read her story.

Because of our laws in the US, accommodations must be made to help disabled people live their lives as independently as they can. For example, accessible parking spots have a “white space” to accommodate vans that need space to unload a person in a wheelchair. Recently I took Peter to an appointment at Children’s of Wisconsin. The parking ramp was quite full and the open spots were a long walk from the entrance. In this type of situation, we use our accessible parking tag (which we have legally) so we can park closer to the entrance and save Peter’s energy. Though we don’t need it, I happened to find a spot next to the white space (not all accessible parking spots have a white space).

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We returned to the car after the appointment to find that someone had parked in the white space. Luckily we didn’t need the white space that day, but some day we might. Then we would be stuck with no way to load the wheelchair into the van. A fellow CMD mom spoke about the white space in a recent Two Rare Mama Bears podcast that was both informative and infuriating. You should listen.

I understand that sometimes the reasoning behind accommodations made for people with disability isn’t obvious, but unfortunately people in the disability community encounter disregard for their needs all the time.  Our family has experienced it. We know lots of others who have experienced it. Some times other people’s actions are ignorant. Sometimes illegal. Sometimes just downright rude.

I’ve been thinking about this a lot lately in the context of the pandemic that we are currently experiencing all over the world. And I’m having hard time with it.

I mean, there are LOTS of reasons I’m having a hard time. My sons fall into the high risk category because of their weakened respiratory systems. If they should catch COVID-19,  their likelihood of surviving is slim. We are now on day 17 of complete lock down. We are adjusting to working from home, doing school at home, and only leaving the house to get supplies. We only see other people through video calls or while out for a walk in the neighborhood. To top it off, the weather has been cloudy and dreary. I waver between panic, determination, sadness, resolve, anxiety, and comfort every day like many of you.

The part that is really hard to comprehend is other people’s complete disregard for the precautions that health officials are requiring of us to protect others, especially those at high risk. Americans do love their Rugged Individualism. I’m proud of my American rights just as much as the next person but I also understand that I live in a community that relies on me to do the right thing. I, in turn, rely on others to do the right thing as well. As we experience this unprecedented time, I keep coming back to this question:

Who’s rights are more important? Your right to do whatever you want or my children’s right to be protected and healthy?

So, because I can’t trust others to do the right thing right now, you won’t be seeing us in person for quite awhile. Regardless of whether school resumes this year, the boys will not be returning until the fall (or later). We will be cooking all of our food at home and thoroughly sanitizing our groceries when we bring them home. Tim and I will work from home as long as we possibly can. Our family will decline invitations to your parties, and you will not be invited over to our house. We will keep our home a safe place for our boys for as long as it takes. 

More than ever, we appreciate the people in our lives who understand our need for stringent precaution. We thank you for doing your part (whatever that might be) to prevent the spread of COVID-19 and to save the lives of so many people. 

I know these are hard days. I’m right there with you. But maybe, if life feels too much, you can remember these two boys who just want an equal shot at life.

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Oh, and if anyone offers you a microphone to speak to a group of people, just use the damn microphone. 

 

 

Begin Again

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When the calendar turns to a new year, people often think about what is ahead and what the new year might bring. I can’t help but stop to think on the year that has just passed. I reflect on what I have accomplished, but mostly on what I would have changed. 

I’ve always been good at obsessively thinking about all the mistakes I’ve made, and how I could have handled a situation differently. My perfectionism, fed by anxiety, results in obsessive thinking that can be crippling. Sometimes I just stare into space or stand in the shower longer than necessary reliving an event or a conversation from a few days ago, a year ago, or even a decade ago. Thoughts looping over and over until I’m distracted enough to snap out of it. Many times this looping occurs in the middle of the night. I wake up needing to go to the bathroom (yep, I’m that age), and when I return to bed my mind is already spinning, spinning, spinning. Sleep does not return for at least an hour and when it does it’s not restful sleep.

Having children with a rare and life threatening disease only adds fuel to my constant second guessing. Did we make the right decision about a treatment? How could we have found a diagnosis sooner? Should we have pushed harder with the doctor about something we knew wasn’t right?  Should we have used a wheelchair for that field trip? Should we move to a more accessible house? The questions just keep coming. 

I think this is why I’ve always return to this quote by Emerson and cling to it in those moments of looping thoughts. I can’t change what has happened in the past so I need to be done with it. I did my best and now it is time to look forward to the new day. Easier said than done. . . 

My husband can attest that I have chilled out a bit over the years. Having children with a potentially fatal disease has also sharpened my focus on what is important in life. Unfortunately my anxiety won’t let go of my looping thoughts completely. Some days are better than others. Thankfully there are medications to help you sleep.

So as we begin a new year, I will attempt to begin afresh with each new day. I will try to forgive myself of my failings and put away my “old nonsense.” I will strive to realize that I have done what I could. 

Tricky Questions

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One evening about a year ago, Tim and I sat down to watch the movie Arrival, 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 Tim 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 Peter and Michael 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. 

Friends of ours has a son, Matthew, who is autistic. Matthew’s mom keeps a blog chronicling their life with him and autism. In one of her posts, 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 Matthew his lovable self. Obviously autism is different for everyone, but for Matthew 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 posted a video on his Facebook page. 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. I used to think I would be a music professor someday, but that probably won’t happen. 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 Tim?
  • Would I have decided not to have children?
  • Would I be OK living without ever having met Peter and Michael?

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 Peter and Michael 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.  

Overwhelmed

We just came back from a week of traveling, all related to Congenital Muscular Dystrophy (CMD) and SEPN1. Our first stop was Chicago for a conference called SciFam sponsored by Cure CMD and two other patient organizations closely related to CMD. Then we hopped on a plane to Washington D.C. for a week long trip to the National Institutes of Health (NIH) where the boys were enrolled in a natural history study on CMD. We are exhausted but had invaluable experiences in both places.

I’m still wrapping my brain around all the information we encountered and sorting through the emotions of our experience. In our daily life, I don’t think about CMD all that much. Sure, there are things we do every day related to the boys’ disease that make our life different from other families. But it’s our routine. Most days I don’t dwell on those differences.

This past week was a concentrated dose of thinking about CMD and asking a million questions about the boys’ care and their future. Should the boys be having sleep studies more frequently? What more can we be doing for Peter’s scoliosis? Should he be wearing his brace more or not at all? Are we connecting with other families as much as we should? What more can we do to support research?

By the time we got home from the airport, I was overwhelmed with gratefulness, worry, uncertainty, joy, pain, and so many other emotions. I wanted to write something here to sort through all of it, but I’m not sure how coherent I can be right now. I’m going to resort to making a list of some thoughts from the past week. Here they are, in no particular order.

  • There are some really smart people working on treatments for Congenital Muscular Dystrophy but not a lot of them. At the conference, we heard from 4 research teams from around the world (Boston, NIH, Paris, and Italy) who are working specifically on SEPN1. They are experts in SEPN1, and they have a lot of great ideas on what the next steps in research should be. I feel so much hope that these wonderful people are working so hard to help us and other families affected by SEPN1 related myopathy.
  • SEPN1 related myopathy is ultra rare. I knew this but then researchers at the conference shared this slide.

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  • SEPN1 related myopathy is severely mis-diagnosed or undiagnosed. In part, this can be attributed to the fact that we have only known about this mutated gene for about 10 years. Also rare diseases are just that: rare. Medical schools have so much to teach future doctors that they start with the most common diseases. I get it. It makes sense. But that won’t stop me from making sure every med student, urgent care doctor, emergency doctor, nurse, and health care professional I encounter knows about CMD when I leave their office. Hopefully they will then be prepared when and if they met a person with CMD who is desperately looking for a diagnosis.
  • Research requires patient data and with a rare disease there isn’t much data to work with. For this reason, it is crucial that individuals with a rare disease register in patient registries and in research labs. For SEPN1, that means registering in Congenital Muscle Disease International Registry (CMDIR) AND the Beggs Lab at Boston Children’s. Each additional entry in these registries provides a wealth of information for these researchers and helps them create studies and research that is well founded in data.
  • The NIH is sometimes the ONLY place in the WORLD that is able to diagnosis, treat, and/or cure rare diseases. It may also be the only place that is conducting research on a rare disease. We met many families at NIH for which this is the only source of hope they have for the diagnosis and treatment of their child’s rare disease. I cannot overstate that the NIH is doing important work.
  • Research needs money. It’s why we hold a fundraiser each year to support research. It’s why I decided to get involved in legislative advocacy. Research receives public and private funding, and it needs every dollar. The NIH conducts research for all types of diseases (cancer, rare disease, transplants, etc.) and needs to be funded fully every time a new federal budget is passed by our legislature. It doesn’t matter what political party you ascribe to. Anyone can be affected by disease that will be or has been cured because of NIH research.
  • The human spirit is resilient. We met families whose stories of illness and disease are unbelievable. Families who traveled from other countries to seek treatment at NIH after years of uncertainty and doctors who couldn’t provide answers. Sometimes people will say to me, “I don’t know how you do it.” First of all, don’t say that. Secondly, you just do. There is no other choice.
  • Taking care of the caregivers is important. While we are at NIH, we stayed at the Children’s Inn which is a place for families to stay while their child(ren) are receiving treatment or participating in research at the NIH. We had a cozy room to stay in, three meals a day, endless entertainment for the boys, transportation to places on and off campus, access to spiritual support and a patient advocate, and staff and volunteers that were warm and welcoming. We felt well taken care of which was one less worry for us. We could concentrate on our many appointments, the well being of our boys, and our own self care.

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  • There are so many kind and wonderful people in the world. I could share countless stories of generosity we experienced this past week, but I will simply say, despite how the world may feel some days, there are many people who truly care for others and gladly offer kindness to strangers.
  • We’re all in this together. I said it before and I’ll say it again. We will not conquer this or any rare disease without the collaboration of affected individuals, clinicians, researchers, patient organizations, families, and financial backers. We just won’t. I’m grateful to be able to participate in conferences such as SciFam where we have a place at the table to discuss what’s next. For SEPN1, this is what’s next:

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How can you help? Want to come along on the journey with us? We would love to have you along for the ride!

The Toddler Years Were Not My Favorite.

Both boys have summer birthdays. As I like to joke, I am a teacher. We shot for the summer.

A week ago Peter turned 12. Michael turns 9 in July. Every year when their birthdays roll around, Tim and I get nostalgic and pull out photos from when they were babies and toddlers. And by pull out photos, I mean fire up the computer and look at digital photos. Here are two of my favorites from each birth.

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Looking at these photos brings feelings of joy as they would for any parent who welcomed a precious little one into their family. However as I delve deeper into the photos I find ones like this.

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This is Peter’s first birthday party, and he is shoving birthday cake in his face. Just like every kid, right? I also see his head tilted to the left because his neck muscles aren’t strong enough to hold his head up. I see a bruise on his forehead because he fell the day before and when he did his head inevitably hit the ground hard because his neck muscles couldn’t stop his head from hitting the floor.

And this one. . .

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Peter being a silly toddler, but also wearing a neck brace because the physical therapist thought we could strengthen his neck muscles this way. Except that every time we took it off of him, there was no change. This picture reminds me of how frustrated we were not knowing what was wrong with our baby and no one listening to us when we shared our concerns with doctors and therapists.

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Peter having his first of many X-rays before he was even 2 years old. This was the start of a year long diagnostic process that eventually led us to a clinical diagnosis when Peter was 2 1/2.

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Here’s Michael at his 1st birthday party. Same head tilt. Same weak neck muscles. Same diagnosis.

Most of my teaching career has been in middle school music. I love teaching that age though I know many people think I’m crazy for it. Toddlers were never my favorite and it definitely wasn’t my favorite stage with our boys. However my dislike of the baby and toddler years goes much deeper than sleepless nights, tantrums, and picky eating.

I see these photos and can’t help but remember the fear, anxiety, panic, frustration, and so many other emotions I felt as we finally received a diagnosis and then tried to make sense of it. I will forever associate each developmental stage of the boys’ lives with what was going on in our diagnostic journey. The happy memories of these sweet toddlers will always mingle with the roller coaster of emotions we were feeling at that time.

The problem with a chronic rare disease is that we can never look at these photos and say, “Whew. We made it. I’m so glad that is over with.” Unless a miraculously a cure is found, we will never be done with it.

I hope that some day I can look at photos of the boys now and feel good about where we were at this moment in time. We have a genetic diagnosis, the boys’ symptoms are being managed well, and they are fairly stable. I hope some day I can say, “The elementary years were my favorite.”

I hope so. I truly do.

I’ve Got a Feeling . . .

At our older son Peter’s 4-month check up, we mentioned to his pediatrician that we noticed that he only turned his head to the left when he laid on his back. We felt something was wrong, 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 check up she finally acquiesced and referred us to a cranial facial specialist but only because Peter was developing a flat spot on his head from always laying on that side of his head. The visit to this specialist diagnosed Peter with torticollis, his first diagnosis, and prescribed physical therapy.

After a year of physical therapy and little to no change in Peter’s 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 awhile 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 Peter’s clinical diagnosis of Congential 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 it doesn’t anymore. It is an extremely rare disease. Now I’m thrilled when they realize that 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.

 

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Light

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I live in a place where it is dark a lot in the winter. As I leave for work on cold December mornings, the day is just beginning to fully brighten. Later in the day, the sun has almost completely gone to sleep when I step out of my office building to go home for the day. Of course this is only on the days the sun decides to make an appearance. Some days I doubt the existence of the sun or any natural source of light.

Perhaps it is because of this dark backdrop that my favorite holiday image is that of lights shining brightly in the darkness. No matter what holiday you celebrate in December, the element of light plays a role in its observance. Hanukkah candles are lit one by one each night. Houses emit a cheery glow from strands of white hung on their peaks and from the Christmas trees peeking out of front bay windows. In many Christian traditions, a new Advent candle is lit every Sunday to prepare for Christmas and the birth of Jesus. The new year is welcomed with fireworks, shiny decorations, and bright possibility.

Unfortunately, the holiday season can bring darkness to our hearts or make existing darkness feel more acute. For me, the literal darkness of the winter often makes me feel figurative darkness that equals sadness, depression, hurt, and anger. Like many, I’ve felt my share of darkness during my almost 40 years on this planet. Some days I have to work hard to prevent it from consuming me whole.

Once again this year, our family will celebrate Christmas without my beloved mother-in-law who loved nothing more than to be with family at the holidays. Recently I heard a wind band perform at a concert and could only think of my friend and colleague who died two years ago in December at age 40 from cancer. My dear neighbor is marking one year without her mother this month– a lovely albeit spunky woman whom I miss as well. I am reminded of my childhood friend who loved the Christmas Eve candlelight service so much that we lit candles at his funeral 7 years ago after he died by suicide. All of these precious lights eaten up by the darkness.

That’s why I need the light of the holidays. I need a reminder that there can be hope, joy, and peace. That despite my dark world, I am surrounded by light.

Recently Tim and I attended a Christmas concert at the college where he works. The theme of the concert was There Shall Be Peace, and each musical piece gave me a moment to meditate on that elusive state of peacefulness. The concert ended with a candle lit rendition of Silent Night, sung by everyone in the hall. The candle lighting began with a single flame and grew to a roar with hundreds of individual flares. The beauty of that shining moment made me truly believe that there can be peace. Peace in myself, peace in my world.

Being of the Christian faith, the radiance of Christmas most brilliantly shines in the celebration of Jesus’ birth, but I also see brightness in the kindness of others, the love of family and friends, and sometimes from places that surprise me. Some days those lights are so easy to see. Other days I can barely make out a flicker. I will keep looking, though, because the light gives me hope, and when I see it I wrap my arms and legs around it and hold it as long as I can.

Maybe this holiday season is devoid of light for you. If so, I’m sorry that you have to go through this hard thing. My hope for you is a glimmer will come to you somehow and you can grab a moment of peace from it.  

If you see a blaze of light today, I rejoice with you and hope that it continues to burn brightly for you.

Wherever you are this December , I wish you a very Happy Holidays and a bright New Year. 

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