Accidental Researchers

I’m sitting here with my coffee, trying to wake up after a night of not sleeping well. Five tabs of medical publications and one tab for “dictionary.com”. This morning, I’m working on several different writing projects, the most difficult being the simplified-language medical research paper I’ve been pondering for several weeks, the easiest being Melora’s intro letter to the preschool teachers and therapists for this school year. And there’s this blog post, obviously!

We never wanted to be medical researchers. As children, “advocate” was never on our lists of future careers (not that it’s actually a paid career!) Yet, poring over medical journals and understanding terminology we’d never seen before is becoming the new normal. Learning the science of genetics, neurodevelopment, and futuristic medical treatments is what we do now. Our cause is “cutting-edge” and “groundbreaking”, terms we used to be impressed by, but are now disappointed by. It would be so much more comforting to just be able to get all the info and support we need from the nurse at the doctor’s office.

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But, when all you can find is techno-babble and you know there must be others like you, there is no choice but to “trail-blaze”. Our search for families of people diagnosed with Wieacker-Wolff Syndrome has taken us from the United States to Europe. This being the case, we are considering learning languages other than the one we already know. That is, in addition to the languages of genetic medicine, internet navigation, data compilation/distribution, advocacy, corporate communication, blog-writing, etc etc, I could go on for days.

In becoming accidental researchers, we’ve learned a few things. For one, medical providers are great (usually. Ours have all been pretty great, anyway), but they don’t know everything. With Melora, we have to be prepared to share our knowledge with them. All patients should try to be knowledgeable about their own health. Any good provider will want to be as informed as possible and will want to know everything they can about your medical condition. Although it is a bit unexpected to have a healthcare professional say they’ve never heard of your illness, it is reassuring when they admit it and ask for more info. There’s nothing like a specialist telling you, “I have more studying to do”!

In addition to our evolving relationships with doctors, we’ve learned that even though there are 7,000 different diseases that are classified as rare, all the people with rare disease have certain things in common. They, and their families and caregivers, must become experts on their condition. They will likely become researchers themselves and develop a sense of community in their support groups. Even in a single rare disease, any two people with the same diagnosis can have similarities that define their situation, but also differences that make their experience unique.

Furthermore, gathering, compiling, and providing data to the public in a reader-friendly manner is a job that is quite underrated. Non-fiction and technical writing require educating oneself on the subject, and related topics, completely. Between that and the actual writing, it’s a lot of work!

In the long run, we’re glad for the technology available to us that makes all our research possible. We value the opportunity to share what we learn. We appreciate the futuristic devices that will make our child’s life easier as she gets older and the possibility that scientific advances could greatly improve her outcomes. Then there’s the increasing public acceptance of individuals with differences and disabilities. Enlightenment and compassion are what drive us to unearth and disseminate every tiny piece of attainable data. The more we, as parents, know, the better our child’s quality of life. And if we can assist others by sharing, well, that’s a pretty fantastic bonus.

Thank you so much for reading.

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What Melora Can’t Do (And What She Can)

There are a lot of things Melora can’t do on her own. She can’t walk or even put weight on her feet. She can’t crawl or even get to a hands-and-knees position. She can’t roll around to get to a toy she wants.

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Melora has muscle weakness all over, from her large muscles to her tiny ones. She can’t coordinate her eye movements very well. She can’t talk or even make consonant sounds. She can’t chew or swallow foods that take too much work

Melora has autistic behavior. She can’t communicate with words. She can’t make consistent eye contact. It can be a lot of work to make her smile or even laugh.

Melora is a sweet little girl who loves her family. She can cuddle better than most people. She loves to laugh when people dance or act silly for her. She can work very hard practicing with communication devices to make herself understood.

Melora loves life and reminds us to live in the moment. She can appreciate the beauty of the trees when we take her for walks on the trails. She can enjoy her foods and try news ones quite willingly.

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Melora is enthusiastic about movement. She can rock on her rocking horse and go really fast. In the pool, she can have a blast floating, splashing, kicking. She can view the world in a different way when we hold her upside-down.

There are a lot of essential things Melora can’t do, which causes us to worry about her future. But there are a lot of very important things she CAN do. She can make strangers smile uncontrollably as they walk by. She can keep us on our toes and prevent us getting stuck in a routine. She can make us laugh with her adorable sneeze and baby-doll expression.

When you do the math, the things Melora can do tower over the things she can’t. Of course, the hardest thing is to not hear her words, but we know they’re there. We just need to learn her language. And we’re getting there. One day at a time, one hour at a time, sometimes one minute at a time.