Rare Diseases Week

Since it’s rare diseases week (yes a whole week, we deserve it y’all), I figured it was time to post some thoughts.

Having a Rare disease (or a few in my case) means doctor shopping isn’t just looking for someone to take your insurance. It’s finding a doctor whose even heard of your conditions and then might be willing to take on the chronic challenge. It’s lots of no’s, and “this should be working but not on you I guess”. It’s guinea pig testing and deciding between living and being miserable or living with dozens of side effects from medications and then choosing if you need more medications to fix the damage from the medicines keeping you alive and sort of functional. It’s realizing that you’ve never felt so alone and trying to decide if it’s worth the expenditure to try and reach out only to be too exhausted to follow through. It’s slogging through a decades worth of medical files to find a diagnosis and then not even being sure it’s right. It’s spending night and days endlessly searching through every article or paper ever published even mentioning your diseases for hope and treatments. It’s people giving you strange looks and not really understanding what’s wrong. Or even doctors just not believing you and claiming it’s in your head. It’s a lot of well meaning but ultimately useless advice (sometimes unsolicited and sometimes out of the love of those around you) regarding magic juice cleanses, herbal supplements, special oils, and miraculously “healing” yoga. It’s really, really wishing that those options were both feasible and workable. It’s being driven crazy because you’re not quite sick enough for the interventions you need but not healthy enough for the alternative options. It’s a lot of balance.

But what about getting one later in life? It’s so different to be born with something that effects you from day one and thus you grow and adapt and adjust your entire life than being born with a problem that only manifested when something specific triggered it and suddenly having to erase your entire normal and watch the basics you took for granted as normal things fade away. Driving, a grocery store trip, a job, all of it. It’s looking ahead and realizing there isn’t a clear path or even a road map to help you get back to where you want to be. It’s mourning a loss you never through existed and realizing that now spending a day actually alert and aware is the primary goal. It’s seeking support from those who were born with it and impacted from day one and just hoping you can be as adaptable as they are. It’s desperately trying to not show your fear of decline and putting on a brave face for everyone around you. It’s making concessions, adaptions, and sacrifices in the name of safety, ease, and hopefully comfort. It’s also heart wrenching. It’s watching someone you love be forced to walk this journey with you and witness your declines. It’s hoping you can have one day where it’s just not as bad and that they too can rest.

Rare diseases also drive you. They make you want to fight for a better tomorrow. They drive you, define you, but don’t defeat you. By defining I mean determining certain aspects of your life but not who you are. It means you must be aware of your surroundings, your interactions, your lifestyle, food intake, locations, and other needs. It means you must always be fully prepared, carry information, and understand the risks no one else must think of. But it also means you are an educator, and advocate by nature. You have to fight for yourself to receive the right care and inadvertently you are educating others so that they might use your experience to help someone else.

Rare diseases shouldn’t limit you, shouldn’t define what you can and cannot do, but they like to get in the way. As horrible as it sounds, I almost wish more people had it so it wasn’t rare anymore and more people understood. But unless someone with money or who is famous gets or has it, no one really ever hears about a rare disease. I want to change that. I want to search for information about a rare disease and see others stories who have it. I want to be able to remove the notion that rare means incurable, untreatable, or unacknowledged. Instead it should be understood, respected, and well cared for. I want it to be about success over lack of information, hope over despair, and most of all, open mindedness. I can only hope that one day we no longer have a need to advocate for rare diseases and instead can just share all our successes. That rare no longer means a lack of information, instead it means unusual but manageable.