Unsung Superheroes
It takes on average of over seven years for rare disease patients to find the right practitioner and receive their diagnosis. I know many, including myself who have waited decades. I realize now that just like by definition a rare disease means fewer patients with a disease - there are similarly fewer physicians treating rare diseases. Unsurprisingly, treating the rare is not the easy path- but I have never met more inspiring and motivated people than those physicians that choose rare.
From the moment I met my mast cell physician I could tell she was different. The way she listened and asked questions and almost immediately could not only explain to me what was happening in my body but also have ideas on treatment. I could not have anticipated in that moment how important she would become to my life and my family. Our bond was immediate as she without hesitation wholeheartedly took on my mom, myself and my soon to be born son. Her style is unlike any other physician I've worked with - her clinic hours run to her own beat. Most appointments in full take two to three hours with her coming in and out as we work through the list of issues. The times she is with me she listens - intently- she thinks deeply- she responds with wisdom and care. You can see her mind spinning as she asks why and doesn't want to just treat symptoms. In the appointments she weaves her medical expertise with her own personal stories of lessons learned along the way. And she has a unique ability to make you feel heard and valued - not just recognizing the challenges that I live with daily but also finding her own drive and strength in our shared struggles. Because as she reminds me often, we are a team- grounded in the utmost trust and respect for each other.
Being a physician to the rare community is not easy, in fact it is heroic. These physicians have a practice made up of complicated very sick patients who regularly have life threatening emergencies, who are more likely to fail the multiple treatments being prescribed and who have spent years searching for a diagnosis and who are both mentally and physically traumatized by being told it is all in our head. Rare disease physicians fight alongside their patients and on behalf of their patients as they challenge their colleagues to understand the disease they treat. Rare disease physicians spend hours trying to help us navigate a complicated and broken health care system that does not support the rare patient who does not easily fit in a diagnosis box.
As I have seen in my own doctor, being a physician to the rare disease community extends far beyond the walls of the clinic room. It is every middle of the night phone call during a reaction, every email exchanging ideas of new treatment options, it is holding my hand when I am scared and cheering me on for every victory no matter how small. It is constantly reminding me to take it a day at a time and to believe in my better future. It is crying together after a loss so large it has forever changed both our worlds but still finding ways to lift each other up proving that even in the darkest moments there must still be light.
March 30th is National Doctor’s Day and this year more than ever we have seen the heroic efforts of all physicians during this pandemic. I celebrate all physicians who are on the front lines battling COVID-19 each day. And I celebrate all the physicians who dedicate their lives to working with the complicated and most vulnerable- the rarest of rare- as it is their daily fight with us and for us that give us all hope for a brighter future.
“Quietly moving through the world making windows for the light to come in before there was none” ~ Brian Andreas
