A Plea From the Rare Disease Community
Did you know that rare illnesses aren’t as rare as we think?
A “one in a million” diagnosis should not be out of the differential simply because a physician has never seen it or deems it unlikely. I would still have much more limited mobility, potentially long gone, had I been satisfied with “horse” diagnoses (which were wrong).
This is why we call ourselves zebras in the rare disease community — instead of thinking horse when you hear hoof beats, there are 300 million plus people for whom you needed to think zebra. There are likely so many more that go undiagnosed…
This is life or death.
Even after diagnosis, failure to think zebra can endanger our lives. As an example, I was told in 2021 that I didn’t need my emergency injection, while descending quickly into adrenal crisis in the hospital post surgery. My neuroendocrinologist (from the same health system) was on my cell phone instructing the RN to inject the life-saving solucortef immediately. They continued to wait until the offsite hospitalist and my neuroendocrinologist could speak directly at 11 pm.
Why?
Even though I had a confirmed diagnosis, treatment protocol and emergency plan in place (along with an injection that I self-administer at home, emergency bracelet, and letter from my doctor), I was repeatedly told that I was not in crisis.
This medical gaslighting is a common zebra problem — I presented atypically, which I always do as a result of co-occurring illnesses. Ultimately, it took two hours to get an injection that I should have had immediately. People die of adrenal crisis — this is unacceptable.
What’s more heartbreaking is that it’s not just adults facing the brutal diagnostic odyssey and medical gaslighting; children cope with the same stress and struggle.
I have been a part of the healthcare community for my entire career. Balancing all of the competing variables is incredibly challenging, and I don’t believe organizations are trying to cause harm; however, it doesn’t need to be intentional to bring great damage into the life of a zebra. It might cost us our “one precious life” (poem by Mary Oliver).
Recently, I revisited a question asked I periodically ask within the rare disease community. The message — when I asked others with rare illnesses what they wanted to say most on rare disease day 2023, the answer was… “PLEASE BELIEVE US.” The bar is set extremely low. We’re asking to be believed and provided humane treatment. Even more important, we’re asking: please listen when we tell you what we need in an emergency… for many of us, these lifesaving instructions come directly from our medical team.
The very humble but firm request — we ask that you please take our rare lives seriously.
Follow this journey on Blue Phoenix Art
There are terms to describe my creativity…words like “Synesthesia, Acquired Savantism and Accidental Genius” are all thrown about among experts talking about how I suddenly discovered the ability to paint in 2011 after a Traumatic Brain Injury. But this isn’t just a story of painting; it is my experience of transformation. I was an award-winning entrepreneur and nationally recognized business strategist in home health and hospice before the “mild” traumatic brain injury that changed my life. I was married at the time, at the pinnacle of my career, with a 2 year old daughter. In between business trips, I went to Costco to get a bag of cat food. While loading groceries, the hatch/tailgate of my SUV suddenly dropped on my head. Although I never lost consciousness, my life changed in an instant. Immediately, my career ended and I began a walk into the unknown. Shortly thereafter, I discovered that I could paint. I was not an artist before the accident; but suddenly, painting was as easy as breathing. With a new language – that of color – I transformed into an insatiable artist overnight. This is what it means to be an Acquired Savant. I am self-taught, and I have never taken an art class. I simply sat on the floor of the art store and allowed my hands to explore what felt right. That was the Summer of 2011. I am very fortunate that I do not have many of the tradeoffs that go with Acquired Savantism; Dr. Treffert calls this scenario “Accidental Genius.” My journey through art heals me, even as I continue to discover new health conditions as a result of the injury. I have Dysautonomia (POTS), Pituitary Dysfunction, Adrenal Insufficiency, Migraines, and other issues that impact day to day living. Still, I feel called to help others. Today, I am the same person that I always was; I have simply deepened in ways I never could have imagined. With my CEO days in the rear view mirror, I now study Theology – I’m getting my Masters of Divinity. I spend time with people that live outside – they are my teachers. I have a little menagerie of animals including goats, bulldog, cats, fish and horse – my horse is my physical therapist. I paint constantly in order to express the inexpressible. And…I am a single parent to a beautiful daughter – she is my greatest gift.
novelorica