Rare Parenting: Do Good Rare Disease Doctors Exist?

By Elizabeth Paddock

People with rare diseases are often called zebras. The old medical adage “When you hear hoof beats, think of horses not zebras,” has been used to train decades worth of medical students and doctors since the phrase was coined in the late 1940’s by University of Maryland School of Medicine professor Dr. Theodore Woodward. (Yeah, thanks a lot, Woodward.)

There are now dozens of different diagnoses that are considered zebra diseases but there are still so few of us that we tend to band together not by disease but by the unifying zebra stripe ribbon. Our illnesses may have nothing in common, but we all share one common and powerful experience: We are rare.

Through my journey into zebra-land, I learned– the hard way– that there is one thing in the medical community even more rare than the zebra patient. The zebra doctor. Rare diseases often take years to identify and diagnose. Why? Because decades of doctors have been trained to ignore us. No matter how loudly we stomp into their offices, their clinics, their emergency rooms or intensive care units– most doctors will do what they were trained to do and that is to hear horses.

Having been trained to diagnose and treat literally hundreds of illnesses and diseases– a superhuman feat indeed– many doctors simply stop here. Whether they fail to, or downright refuse to acknowledge that there may be something out there they weren’t trained in or don’t know is where most zebra patients hit the notorious brick wall: Doctors who refuse to admit that maybe they have been graced with the presence of a zebra.

Personally, I spent nearly six years prancing in and out of doctor’s offices and hospitals, proudly displaying my beautiful black and white stripes for all to see. It was clear I was no ordinary horse, for no matter how many labs they ran or scans they scanned, I appeared— on paper– to be totally normal. Save for the fact that my resting heart rate lingered near 150 beats per minute, that I got dizzy and nearly fainted every time I stood up, that my volcanic-like gastrointestinal tract turned itself inside out on a near daily basis, or that my lips would puff up so big they’d crack open and swell shut. But on paper– everything looked fine. Because they relied only on what they had learned in medical school and their tests cleared me of any easily identifiable disease, most doctors quickly tossed me to the side. A majority told me it must all be in my head. Go see a psychiatrist, they’d say. Per the orders of at least two dozen doctors, I reluctantly shuffled into the office of a psychiatrist. Surely they were right. Surely I must be crazy. Except I wasn’t. It was my psychiatrist who first recognized my glaring black and white stripes. While she had no name for me, she sent me to doctor she knew. A doctor who specialized in hearing zebras, not horses.

And this is where I learned what the rare and elusive zebra doctor looked like. After a three hour intake evaluation that covered me from head to toe and from birth to the present, my zebra doctor said these magical words: “There is very clearly something wrong with you but I have absolutely no idea what it is. Together, we’ll figure it out.” What. What? We’ll what? Together? Had I been strong enough to stand, I would have stumbled backwards from the shock. Perhaps it would have entirely knocked me off my feet. I had never heard such words before.

We did figure it out eventually. Together. She viewed me as an expert on my own body and viewed herself as a detective, not an egotistical expert who knew everything. In fact, she knew very little about my disorder. But she wasn’t embarrassed or ashamed to admit that. It didn’t threaten her intelligence or experience. She viewed me as a learning opportunity and embraced the chance to expand her knowledge and experience. When she finally identified my condition, she didn’t send me on my way because it didn’t fall within her scope of practice. Instead she sent me to a specialist five states over and agreed to stay on as my local doctor, with both of us following the guidance of the specialist. She consults with my specialist every few months and together they have helped me gain some semblance of my old life back. She continues to research my condition and learn from my specialist and has since diagnosed two other patients with the same rare disease. When I thank her for all she does for me, as I do after every appointment, she tells me it’s no big deal. But it is a big deal. It’s a huge deal. A game changer. A life saver. Because a good zebra doctor is truly more rare than a zebra itself.

So when our youngest son first started exhibiting symptoms that were possibly related to my condition, I panicked at the thought of watching him suffer while we spent years searching for a pediatric zebra doctor. After his first ER visit we landed in the office of a random pediatric gastroenterologist. She ran through a series of tests and excluded a handful of common conditions- and even a few rare ones. When everything came back normal, she took my breath away with these words: “I’m not sure what we’re dealing with here, but I’m going to help you figure it out.” I breathed a huge sigh of relief, for I knew right then and there we had found a very special doctor. We haven’t quite figured it out yet but she has kept true to her word. She has consulted with specialists from Iowa City to Boston and arrived in the office at 6:00am to scour research articles regarding lab results and biopsy stains. When we landed in the office of a hematologist who wasted three months of our time, she was there to listen to me cry before she gently reminded me that we are not alone. She is going to see us through this. She may not have all the answers. At this point, she has none. But what makes a true zebra doctor is not necessarily having all the answers. A true zebra doctor is willing to admit what they don’t know- and willing to stick by your side while you both figure it out. Together.

So to all of the zebra doctors out there- to all of you who take the time to truly listen, to care, to think outside the box, to research, to learn, to check your ego at the exam room door and to take these wild and unknown journeys with us- thank you. Thank you for being you. You are rare indeed, and for that our herd is forever grateful!

Author Bio: Elizabeth Paddock is a mother, wife, and writer from southeast Michigan. With a master’s degree in clinical social work, Elizabeth has been a stay-at-home mother of identical twin boys for the last six years which has allowed her to focus on her family and her health. Elizabeth has a primary diagnosis of Mast Cell Activation Disorder along with secondary diagnoses of Postural Orthostatic Tachycardia Syndrome and Joint Hypermobility Syndrome. For more information on mast cell disorders, please visit The Mastocytosis Society at www.tmsforacure.org.