The day we received Fritz’s diagnosis, we immediately felt as if the tectonic plates below us began to shake. All of a sudden, we no longer felt like we were navigating life on a smooth, flat surface. The ground beneath us shook violently, and when it finally stopped, a mountain appeared. A huge, Everest-like mountain, with steep cliffs and unclear paths. When the doctor gave us a packet of “maps” to help us navigate this mountain that towered over us, phrases like “but we aren’t hikers, we don’t want to go hiking, we haven’t trained to hike something so difficult” circled in our heads. So first, we cried, a lot. But soon after we knew we had to start preparing, because our son’s life depended on it.
We started by familiarizing ourselves with the maps we were handed at diagnosis. We studied the legend, we googled terms and websites given. We did our best to become accustomed with the terrain of this mountain we now refer to as Mount Duchenne. And we tried to understand basic hiking lingo like; Fritz’s mutation, steroids, clinical trials, exons, and dystrophin.
Aware that it is never safe to hike alone, we also talked to close family and friends about this new journey before us. We showed them the maps, and we shared our fears. We recognized the need for support in an adventure like this, so we asked if they’d help carry a pack and join us.
And as much as we would’ve liked to prepare more, we really didn’t have much time, (isn’t that one of the harsh realities of Duchenne). So we put one foot in front of the other, gripping our maps in one hand, and holding onto the people we trusted with our other, and we started; nervous, fearful, but knowing we just needed to start.
We’ve been hiking Mount Duchenne for just over three years, and like any outdoor expedition, some days have been tougher than others. Some days the blisters and pain are just too much, and we wonder how much longer we can keep going. Some days it’s very obvious we’ve never trained for such a taxing quest. But in these early days, we’ve learned the importance of rest. We’ve learned that sometimes taking an extra day at camp to cry, to grieve, and to give our body what it needs, is just as important as the days we put in lots of miles. Resting, hydrating, refueling are crucial components to grueling hikes.
When it comes to hiking equipment, the tool we’ve utilized the most has been our voice (it’s very versatile and easy to carry 😉 ). We take time to talk to fellow hikers we meet along the way. We especially make sure to reach out to those we see further along the trail. We swallow our fear, and we yell up to them “Hey! What has your journey been like up to that point?” “Have you tried the clinical trial path?” “What route did you take to get to night splints?” “What Neurologist do you stop and see?” These fellow hikers, who also find themselves trudging up Mount Duchenne, have been more than helpful. We can’t always directly apply what they’ve learned to our own excursion, however their insight often sparks new ideas. These more experienced hikers regularly settle fears about what the path is like up ahead, and give us much needed tips on how to navigate it.
Lastly, we’ve come to realize that despite this being the most difficult hike we never planned to go on, there is still beauty. On many occasions we find ourselves second guessing our path, or wondering if we’re lost. However, we’ve learned you don’t have to get to the top of the mountain for breathtaking views. The most beautiful sunrises may happen just when you thought you were too tired to wake up and keep going. We are intentional about picking our head up every couple of steps. We take notice of how the sun lights various parts of the mountain, or we pause to give attention to the flowers that bloom alongside the trail. We are cognizant of the fact that within such a strenuous task, beauty is present, it just might not be how we imagined it. After all, we never imagined ourselves hiking this mountain in the first place.
My “quick tips” for Hiking Mount Duchenne:
- Search for someone in your own network…sometimes rare disease isn’t as rare as you think and you never know about someone who knows someone.
- Use social media
- You don’t need a large group, only a handful of moms/dads that you can relate to and trust.
Find a Neurologists
- start locally
- ask your Duchenne mentors who they might recommend
- Take note of the doctors Duchenne Organizations work with.
- It’s important you feel comfortable with this person
- Its important that you are confident about the work they are doing.
- Don’t be intimidated by doctors, part of their job is to answer your questions
- After establishing your mentor group, ask them questions.
- We keep an ongoing list of questions that come to our mind with an app on our phone for each doctor appt. I felt silly opening this up at our first couple appointments, but I always feel so much better when leaving knowing I didn’t forget something.
- Again ask questions! Ask your neuro & ask your mentors
- look over Duchenne organizations websites
- narrow down what you need to know by understanding your son’s mutation.
- rule out all clinical trials that don’t apply to you at first using your son’s age and mutation
- follow Duchenne Organizations on social media
- Bookmark articles you’ve read, and revisit them.
- create file or binder to store paperwork to help track what was done and when.
- Use a note taking app on your phone to record questions that come up
- Schedule a specific time (once every week/ once every month) to check in with your partner specifically about Duchenne related topics: challenges, medical bills, concerns, upcoming transitions, thoughts about a trial. Actively talk about what you’ve learned with your partner, or questions you have.
- Just as you have appointments for your son’s health, don’t be afraid to seek professional help for yourself or other members of your home in the form of a counselor or therapist. Many hikers don’t hike a mountain like this without some sort of guide.
Ultimately rare disease mountains are
- Massive, but know the bigger the mountain, the more plentiful the views
- Not popular hikes, and many paths are unclear; know there isn’t just one way up.
So do what you can to prepare. Start with small steps, knowing this type of hike is not one you will do in a day. Learn from a variety of sources, leaders in the field, online websites, social media, and fellow rare disease parents. Listen to or read many types of material. Be ok with not understanding all the science, but know the more exposure to Duchenne terms will only help you. Communicate with your partner, talk about how and what you are feeling. I’ve always believed that we as parents know what is best for our son, but I also have confidence in that belief, because we put in the time doing the things above. We spend lots of time asking lots of people lots of questions in efforts to make the best decisions for therapies and trials. Finally, know that you don’t have to hike such a mountain alone. Remember, that even though this massive, unpopular mountain is filled with unclear paths, steep cliffs and exhausting inclines, this same mountain holds a lot of undiscovered beauty and has the ability to transform you into the strongest most avid hiker, you never wanted to be.