Rare Disease: Feelings Versus Facts

November 29, 2018

 

I've lost track of how many times people have told me or my wife Nikki "you're doing an amazing job with Carson and Chase" or something similar. At a surface level I certainly appreciate the words of support and encouragement, but seldom do I stop to internalize those compliments, because I deal mostly in facts versus feelings. As the designated "medical researcher" in our family, it's my job to learn as much as I can about MEPAN, connect with researchers that can help find treatments, talk with our doctors about the boys' symptoms and what we are doing to support (there are no proven MEPAN treatments) their condition, and connect with other advocacy groups that can help create more awareness for MEPAN or send me onto the next person or group that might have ideas or resources that can help.

 

It's an ongoing process, and I've become somewhat conversant in speaking the lingo of all these different groups. I use clinical terminology and language that can be devoid of feeling, and terms like dystonia, dysarthria and reactive oxygen species have become part of my linguistic playbook. I throw them around in the various conversations I have with these groups, and in most cases it's a transactional exchange of information. I explain what MEPAN is, what I am looking for, and they (when they respond - most do, but some don't) reply with insights or data from their area of expertise.  I'm not doing anything special, really - uncovering and assimilating information that can help improve the lives of Carson and Chase. It's estimated that there are more than 7,000 rare diseases known today, and with about 400 new ones being added to medical literature every year thanks to advances in genetic testing, there are very likely thousands of other parents like me around the world doing exactly the same thing.

 

What I don't often convey to the experts that I connect with are the FEELINGS I have about being the father of a child (two!) with a rare disease. It's one thing to talk about alleviating dystonic symptoms, and quite another to talk about the fact that Carson has told me he wants to ride a two-wheeled bike like other kids, or that he used his eye gaze communication device to tell his speech therapist that he hated his wheelchair. His aide at school helps him play tag with the other kids in his wheelchair at recess, but imagine how he would feel if he could run? Nearly every day our younger son Chase points to the door - his way of telling us he wants to go outside (rain or shine). He's in his happy place when I take he and his brother out for a walk in our double stroller. I have no doubt if Chase could walk we would be on the trails near our house several times a week exploring the outdoors. The facts are that neither of the boys can walk right now, but the feelings I have are complex and deep. I'm frustrated that I can't can't find answers for them fast enough. Am I doing the right things? At times I am very fearful for what the future may hold. What if their symptoms worsen? Other times it's simply sadness. Driving by the park and seeing kids playing soccer. Why can't my kids do that?

 

But despite those feelings of frustration, fear, and sadness, what I also feel very often is gratitude and pride. I feel very grateful to have an awesome "mama bear" wife who makes sure the boys have all the resources available to them for school, therapy, and daily living. Nikki is relentless, and advocates for their needs in ways that aren't always my strong suit. I feel extremely proud of Carson and Chase. They nearly always have smiles on their faces, and despite not being able to talk can connect with parents and peers in ways that I'll never be able to. This was the update we received on Carson's most recent report card:

 

Carson is truly a special child! Sweet and kind, he arrives each day with a joyful smile, and a wonderful attitude towards and learning. Our resident celebrity, he revels in his friendships with his classmates and he’s at his happiest when he’s laughing, playing, building, and interacting with them. Watching the sweet ways the class takes care of Carson, and the joy I see in his face each day has been one of the most rewarding things I’ve witnessed in my teaching. Simply put, Carson is the glue which holds our class together, and we all wait eagerly for his arrival each day. He is a gentle, loving friend with a kind heart. It is a pleasure having Carson in class!

 

Those are words that would make any parent feel proud. And if the boys never utter another word or take an independent step, that's ok. I will still think that I have the best boys in the world. And I will always be proud.

 

 

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