Hustlin’ in the hospital to get her IVIG treatments for one of her rare disease diagnosis: mast cell activation syndrome

Tomorrow is Rare Disease Day and among the many (many) awareness days throughout the year, this has always been one of my favorites. Two years ago Adelaide and I spent Rare Disease Day in the hospital and I used it as an opportunity to share what the rare disease life can look like inpatient as an instastory which you can still view in my highlights. It has one of my all time fave videos of Adelaide in it so I strongly recommend checking it out. Last year I took the opportunity to chat about one of Adelaide’s many rare diagnosis in Mast Cell 101. If you haven’t read it, please do, I feel strongly that this condition is not as rare as we might think and is actually under or misdiagnosed. This week I’ve seriously struggled with what to focus on for this year’s Rare Disease Day. To be honest, focusing in general is a bit of a challenge right now: I have binged more Netflix this week than I have cumulatively this entire year. When I owned up to this in an instagram post on Tuesday and read the overwhelming response I was reminded what it is about this awareness day in particular that I love so much: the community.

Throughout the years of caring for Adelaide we never met another child just like her. Adelaide was the unlucky beneficiary of multiple rare and not-so-rare diagnosis but her over-arching diagnosis remained elusive. In the rare disease community, though, that never mattered. The similarities in our lives united us: doctors appointments, therapy visits, insurance negotiations, long hospital stays, medical professional after medical professional that left us with more questions than answers, and the ever changing medicine regimes. These are all common denominators in the rare disease community. Our conditions may present differently but our shared experience, fears and triumphs are similar.

The relationship between medical professionals and the rare disease community is also unique compared to more common conditions. When working in rare diseases that have little funding and, as a result, minimal research and available treatments, the clinicians are forced to rely more heavily on the patient and caregiver experience to navigate treatment plans. There is an appreciation and mutual respect on both sides that I never experienced with, say, Adelaide’s cardiologist. Sure, her cardiologist was great but we weren’t going to teach him anything he didn’t already know. The rare disease community is constantly challenging, teaching and working with their doctors and in turn the doctors are able to better treat the next patient.

To add another level of total bad assery, (spell check is telling me thats not a word but I’m going with it), the rare disease community is forced to hustle in a way that makes Bill Gates look lazy. Whether they are networking with similar rare disease patients/caregivers, teaching themselves how to read medical research papers, or just connecting with other folks online to learn what treatments have or haven’t worked, rare disease fighters can’t stop. Imagine having a disease so rare that you have to get your insurance company to create a classification code for the diagnosis just so you can get a treatment covered. Or how about hunting down the one specialist in the country who might have some leads or new ideas on your specific condition then fighting the wait list to get into to see them. Oh yeah, and they’re doing all of this while living with or caring for someone with a complicated medical condition. But it doesn’t stop with doctors and pharmaceuticals. Had Adelaide required additional therapy hours we were going to have to have her diagnosed with autism. Was she autistic? No. She had a rare undiagnosed neurological disorder but rare undiagnosed neurological disorders don’t have an established bureaucratic system to qualify them for much needed therapies. Could she communicate? No. Did she make eye contact? No. Could she follow instructions? No. We could have easily gotten an autism diagnosis had we needed it but thats not the point. As rare disease caregivers we are constantly having to find loopholes to get our children the treatment they need. As an aside, I would like to send a special thank you out to the autism parents who fought for their kiddos to get these much needed therapies. There is an entire rare disease community that is benefitting from their incredibly hard work.

Rare Disease Day 2019, wearing our jeans to support all those with rare genes

Basically what I’m saying in this slightly rambling post is that the best thing about Rare Disease Day is the community itself. So thank you to all of you for lifting each other up and fighting like hell. Thank you for sharing information about your rare diseases so that we can all learn from each other. If you have a moment search the tag #rarediseaseday on your favorite social media platform and learn a little bit more about the incredible bad assery in your midst. Alone we are rare but together we are 25-30 million hustling and strong.