Rare Disease Day 2023

 

There was a time when I heard the word rare, and my mind immediately thought of something beautiful, special, and unique. Anytime I look at my brave daughter, I know I am not wrong. However, when it comes to a rare illness, rare is also complex and frustrating; beating your head against a proverbial wall and shouting until your voice is hoarse–to bring attention to the medical community about something invisible to the even trained eye battle. Rare is understanding for every good day. There is a slew of bad ones waiting to wreak havoc. Rare is the nurse who is a caregiver, therapist, friend, and family all in one beautiful person. Rare is the husband and father who struggles with his own pain every day yet still takes care of his girls. Rare is our way of life.

Today, across the world, is Rare Disease Day. In medical school, doctors are taught when they hear hoofbeats, they should look for horses, not zebras. This analogy refers to horses being common while zebras are rare. This line of thinking has always frustrated me. While I grasp doctors will naturally see more of the common in their practice, more often than the rare illness, this ideology does not facilitate a hospitable environment when a zebra walks through their door. Their training innately makes the zebra invisible. 

Together, Jayde and I have decades of experience with doctors not thinking, looking, or practicing outside the box. A perfect example of this, Jayde's SMAS was overlooked for sixteen years. I don't think I will ever forget the conversation between me and Jayde's surgeon the first time we met. "She is exhausted...we are exhausted. You have been taught when you hear hoofbeats to look for zebras, not horses. I know you are an expert in your field of study, just as I am an expert in this little girl right here. If you can understand and respect these facts, great, we will get along just fine. If not, there is no need to waste each other's time." The biggest smile came across his face, "That is perfect because almost all my patients are zebras." As I stated, I was exhausted, and when the words came out of my mouth, I knew I reversed zebra and horse, but he did not care. He understood my heart and mind. 

Superior Mesenteric Artery Syndrome, Nutcracker Syndrome, Chiari Malformation, Craniocervical Instability, Mast Cell Activation Syndrome, Ehlers-Danlos Syndrome, and Tarlov Cyst Disease. I had never heard of these illnesses until we were diagnosed. Each of my and Jayde's illnesses was consistently overlooked. Imagine growing up being told it's all in your head; your pain is just growing pains. Now, imagine your child begins exhibiting those same symptoms. You find a determination as fierce as your love. While some of Jayde's illnesses are rare, our journey and her story are anything but rare. Jayde's health was not taken seriously until she began seeing doctors at Johns Hopkins Children's Center. We are fortunate to have Hopkins in our backyard. Now, think of the 300 million people worldwide who don't have the luxury of quality healthcare. I don't know how to solve the problems of inadequate healthcare and uneducated or egotistical doctors, but I know it begins with awareness. The purpose of this day is to globally achieve equitable access to diagnosis, treatment, and care for individuals whose lives are affected by a rare disease. Today, we raise awareness, while the rest of the year, we fiercely fight.

Rare is many, rare is proud, rare is strong. 🦓

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