Medical students have it instilled into them, “when you hear hoofbeats behind you, think horses, not zebras.” So, after years of indoctrination into thinking based on the “keep it simple” theory suggested by Occam’s razor, it’s often an Olympian challenge for doctors to connect the diagnostic dots when it comes to rare diseases. Diagnosing rare diseases is anything but simple.
Not too long ago, our family joined the rare disease community. For years, our child exhibited a multitude of disconnected symptoms that all seemed to have different explanations, if they had explanations at all. The growing list included dizziness, rapid heart rate, stomach aches, rib pain, joint pain, unexpected dislocations, migraines and others.
Spider-Web-like Health Ecosystem
The symptoms accumulated, along with a cascade of specialist appointments, diagnostic tests and treatments. So did the hours of speaking – and negotiating – with our health insurance carrier. Along the way, we encountered all sorts of personalities in our spider-web-like health ecosystem, most compassionate and wanting to help our child, others bewildered or frustrated, and still others deaf to our worries and requests. The boldest and best among the health professionals we worked with were those willing to confess their uncertainty. In medicine, the response “I don’t know” is now an act of courage.
Fifty years ago, when modern medicine came of age, there were far fewer treatments for common, non-communicable diseases such as high blood pressure, cardiovascular diseases or mental illness. While medicine has become more advanced and specialized, it has also become increasingly fragmented. The important family physician – who should have sufficient time and compensation to coordinate care – is often out-of-the-loop as patients rush to a myriad of medical specialists – each hyper-focused on their piece of the biological puzzle.
Fee-for-service care disadvantages primary care medicine and a patient’s coordinated care. This financial model may work for simple – in and out – cases, but when it comes to chronic illnesses, it does not. Add to that the complexity of electronic medical record systems with limited interoperability. Now, specialists face “telephone-game” obstacles to accessing colleagues’ clinical notes and diagnostic data for a shared patient.
Now, shift from common non-communicable diseases to needle-in-the-haystack conditions. It’s baffling for patients, parents and providers. Over time, doctors may even become frustrated with these patients. People with multiple, disparate symptoms with no “one pill to heal them all” are sometimes labeled problem patients owned by no one. In these circumstances, young female patients often experience gender bias and provider judgments that the puzzling symptoms must be “in their heads.”
Communication is Part of the Care
When you hear hoofbeats behind you, think horses, not zebras. As 14th-Century theologian and philosopher William of Occam would suggest, the more common explanation is the correct diagnosis. But medical students – and the doctors they become – need to be careful not to develop a foolish consistency. This is not the Middle Ages of Medicine. It is the 21st Century of miracle medicine where patients must have a voice.
While it is easier to treat confusing and contradictory symptoms than to ask why a patient is experiencing them, savvy doctors rely more on their patients’ collaboration to help them solve medical mysteries. Information, communication, and advocacy can build a bridge linking doctors and patients.
Traumatized by the Medical System
But, most often in healthcare, the gatekeepers – providers and payers – feel they know best. This overconfidence can quickly unravel in the face of the challenges of rare whack-a-mole diseases. Physicians trying to help feel helpless and grasp at straws when their initial diagnoses and treatments do not solve their patient’s problems. Over time, many patients are traumatized by a medical system that seeks to help, but is seen as fallible. As different solutions are sought, the system pays more and more for that same patient over time. The patient’s underlying illness remains unaddressed. No one wins.
This two-decade journey to arrive at my child’s diagnosis (Ehlers Danlos Syndrome) has taught me several lessons.
- TEAM: Any successes result from the passion of individuals —parents, physicians, payers or policymakers — who are determined to work together to find solutions and willing to listen.
- TECH: Good health information begins to force our fragmented health system to converge around the patient. When data is accessible, artificial intelligence finds needle-in-a-haystack solutions, uniting the myriad of like cases so that health professionals can learn, engage, and arrive at answers sooner. Physicians who also engage patients promptly through the EHR system are more than answering the questions of anxious patients; they demonstrate partnership in the care.
- TRUST: I have seen how critical advocacy is. As a health communicator, I have been fortunate to serve on the boards of organizations such as the American Academy of Pain Medicine Foundation, American Heart Association, Leukemia & Lymphoma Society, The Marfan Foundation and Let’s Win for Pancreatic Cancer, which unite healers and patients, and participate in the Centers for Medicare and Medicaid Part D Working Group: all great forums for accurate information that improve public health through informed decisions.
These lessons all point to passionate, informed collaboration as the key to restoring clarity and sanity to the fragmented health system and driving quality care for patients, whether they have common ailments or rare conditions. I integrate these lessons into my work to benefit clients and, most importantly, change the lives of the patients they serve.
Our family’s lives were changed by one cardiologist who dared to utter a simple sentence: “You need a team.” Her idea to put one together should not have been so revelatory, nor so atypical, but it was. She understood collaboration fundamentally and saw patients and their caregivers as her partners in healing.
Collaboration – Overused Word; Underused Strategy
For those whose work touches patient care and public health, I encourage you to collaborate, talk, and merge your experiences with others. Remember, this work directly touches people’s lives. This work makes a difference. Give thought to how you can bond with others to change the course of care. Collaboration is an often-overused word but is too often underplayed as a behavior.
I call on my readers and colleagues to look to the innovators of ideas, products and relationships and recognize that through collaboration with each other, we have an opportunity to recast the health ecosystem. Recognize that our work is a life-saving effort about being part of people’s transformational moments. And be courageous enough to know when you don’t know. From there, we can begin the journey toward healing, together.