I'm Not a Doctor, but That Doesn't Mean I'm Not an Expert on My Child's Condition

I was three years old when my father pleaded with doctors: “My daughter’s bones are bending.” His words were ignored. After years of living in the dark and countless misdiagnoses, including polio and rickets, my parents had no choice but to problem-solve on their own. 

I have a vague memory of being strapped to the ironing board in a desperate attempt to keep my bones straight.

It was the 80s, and the Middle East was not the best place to have a child with a rare disease. There was no “Dr. Google” and the physician in the room was the oracle of all sagely wisdom and medical expertise – even if the rare disease was something they had never seen before.

Thirty-two years later, with dozens of surgeries chalked up as failures and fruitless consultations with experts all over the world, my father became the expert in the room by sheer default.

Today, as I parent my own children with a rare bone disease, my father is the first person I call when I encounter medical advice that sounds a little “too textbook.”

Mine is not an uncommon story in the world of rare disease. Rare patients or the parents/caregiver often become experts on their disease when communicating with their general practitioners, or even medical experts who may have never treated their disease before.

My father, with absolutely no prior medical training, often came up with solutions to mind-boggling problems that medical experts wrestled with. As a child, I would watch with fascination as my father excitedly took out his fountain pen and drew my anatomy for the doctor who stood wide-eyed in wonder. Despite the sketch being way more informative than the X-ray the doctor held limply in hand, my father’s efforts were met with rigid disapproval and consternation. 

Years later, I had to piece together parts of the puzzle in figuring out a diagnosis for my boys. My father’s little sketches and summation notes were a guiding light through some of my darkest days searching for a name for the rare demon that wreaked havoc in our lives.

Despite the contentious relationship with doctors and medical professionals in general, I have always been taught to respect the person in the white coat. My father served as the perfect example, always bowing, shaking hands and showing gratitude, even when things didn’t quite go the way he would have liked.

Lately I have come to realize that many patients with serious illnesses prefer the physician to dominate the decision processes and provide the information needed. However, in rare diseases, due to the low prevalence and lack of expertise, the patient is forced to become knowledgeable about their own disease. It forces the experts in the room to come to a shared understanding that this is a zebra we are dealing with and not a horse! 

No doubt a significant role-reversal has begun to occur, as rare patients bring valuable lived experiences to their doctor visits, and the encounter between the informed patient and collaborative physician breaks tradition. Often patients come with experience not only about their disease, but also knowledge of treatments that doctors are often unaware of.

With 7,000 rare diseases and new ones discovered each day, the doctor is sometimes running over countless learned facts in a brief, 20 minute consultation. So it behooves the doctor to seek patient input when faced with “things that don’t make sense.”

However, finding the right diagnosis, let alone a treatment, is often compounded by some or all of the following biases rare patients are up against:

Confirmation Bias

• The tendency to seek only as much information as necessary to form an initial clinical impression.

When doctors told my father his daughter had polio, even though subsequent tests claimed otherwise, the rarity of my bone condition and the doctor’s lack of experience sent me on a diagnostic nightmare. Looking for further information could distinguish between major diagnostic possibilities. A discerning clinician might ask more questions; a negative answer should open their mind to other possible diagnoses.

• The tendency to stick with the initial impression even as new information becomes available.

Once you have a misdiagnosis, it is engraved into your file, and there’s a good chance it makes it on your tombstone! Any further suggestions or doubts are outcast to the realms of “it’s in your mind!”

• The tendency to overvalue irrelevant information.

Often rare diseases manifest in profound ways. A single indication may not always lead to a neatly packaged diagnosis. How unsettling for a parent to find out that the “grunting” noise their one-year-old was making was in fact a seizure stemming from a golf-ball sized tumor in his brain and not from colic, as previously suggested by the specialist.

This compounds confirmation bias because the clinician first seeks irrelevant information, then systematically overvalues this irrelevant information.

Anchoring Bias 

• The inadequate adjustment of probabilities as new disconfirming information becomes available.

Status Quo Bias

• Clinicians tend to stick with initial impressions as the number of new possible alternative diagnoses increases.

Framing Outcome Bias

• The tendency to be affected by how information is framed or presented.

Each one of these biases can be the nail in the coffin for the rare disease patient!

Despite these challenges, to the best of my knowledge, there is little out there that empirically explores the nature of communication processes in the context of rare diseases. And it remains unclear what constitutes an adequate partnership between patient and physician in the specific context of rare diseases.

In 2010, a geneticist from South India saw red flags in my medical records, took a closer look at my X-rays, listened carefully without bias and ordered additional testing. In a few days, my boys and I had a diagnosis of Jansen’s Metaphyseal Chondrodysplaisa.

It took 32 years, but this doctor gave us our miracle – a confirmed diagnosis.   

The world of rare is complex. Not everything we need to know is in a textbook. Sometimes the most serendipitous discoveries are made in the exam room when a doctor consumed by a divine discontent with things as they are, puts aside their age-old training manual and eagerly listens to the real expert in the room – the patient.