Millions of Americans live with an undiagnosed disease — healthcare teams are the solution 

As many as 25 million Americans live with a rare, undiagnosed condition. These patients mold their lives around doctors’ appointments, seeking answers to the symptoms that impact them daily. But doctors, individually, don’t always have the knowledge or resources available to determine these diagnoses.  

Often, they are rare conditions of low prevalence with minimal information about them existing in the medical world. In other cases, these conditions are a common disease presenting in a less common manner.  

Dr. Hardeep Singh, a renowned expert on diagnostic errors and a reviewer for the Institute of Medicine’s (IOM) influential report “Improving Diagnosis in Health Care,” has estimated that one in 20 American adults will experience a misdiagnosis every year. Teamwork is one of the IOM’s suggested strategies to shed light on delayed, wrong and missed diagnoses. 

I lived with undiagnosed multiple sclerosis (MS) for 13 years. If healthcare teams existed, I would have been diagnosed and treated far sooner than I was. 

I saw doctors in every specialty, from rheumatology to neurology, orthopedics to endocrinology, and infectious disease to mitochondrial disease experts. During the 13 years I searched for a diagnosis, I didn’t have a consistent primary healthcare provider. I couldn’t find a doctor with the necessary time or resources to lead my search. Just as I bounced from one specialist to another, I was continuously searching for a physician to oversee my journey. That person didn’t exist because primary care physicians are fed up and burnt out. As a patient, navigating a difficult diagnosis without teamwork or a leader can feel futile. 

At each appointment, I relayed my story to a new physician and left without an answer. I met a handful of doctors who listened carefully, thought deeply, and researched possible diagnoses for my case; they studied my symptoms beyond the exam room, but when they fell short, time was up. They needed a team of colleagues and time allotted to discuss my case with them, with me in attendance. But that diagnostic model does not readily exist in our healthcare system. 

I flew from Philadelphia to Rochester, Minn., to be seen in the Mayo Clinic’s world-renowned diagnostic center. I believed I wouldn’t be discharged until I had a concrete diagnosis and a plan of action in place — that is what I so desperately needed, but it is not what I received.  

To schedule an initial appointment within the Mayo Clinic, a patient must establish care within one specialty. However, undiagnosed patients don’t always know which subset of medicine they belong in. A team approach to diagnostics would solve this dilemma because doctors from multiple specialties would be involved in the diagnostic process.  

After an appointment with a rheumatologist and an X-ray of my right knee, I left the Mayo Clinic with a generic answer of non-inflammatory musculoskeletal pain. What I imagined as a diagnostic center with teams of physicians working together to solve medical mysteries was simply another hospital where patients saw physicians individually. Diagnostic centers with leaders in their fields and access to cutting-edge research, like the Mayo Clinic, have the ability to change the lives of millions of Americans living without a diagnosis. But without teamwork, their extraordinary resources are wasted. 

Duke University praised the Undiagnosed Diseases Network (UDN), a study to improve the level of diagnosis of rare and undiagnosed conditions, for its novel approach to identifying and diagnosing mystery diseases through pooled resources rather than a singular institution working alone. Established by the National Institute of Health (NIH) in 2013, the UDN has 12 clinical sites within academic medical centers that have expertise in various medical specialties and in cutting-edge genomic sequencing technologies. The clinical sites work together to diagnose patients who have failed to find an answer elsewhere. 

About a decade into my diagnostic journey, I discovered the UDN. I applied, but then my doctor received a rejection letter: “After careful consideration, our medical review board concluded that we would not be able to invite your patient to participate in our program.” If this program didn’t exist for people like me, I didn’t understand who it existed for. Once again, I experienced the shortcomings of our healthcare system.  

While the UDN is utilizing a teamwork approach to diagnostics, their services are not readily available to all who need it. To meet the needs of the 25 million Americans living with an undiagnosed disease, more centers like the UDN must be established, including those that focus on autoimmune diseases. One in 15 people in the United States have an autoimmune disease, yet diagnosis can be difficult because there’s no single test for diagnosis and symptoms overlap with other common conditions. 

Eventually, I found a neurologist who listened more deeply than any other doctor I’d seen. He ordered a lumbar puncture which revealed oligoclonal bands and white blood cells in my spinal fluid, consistent with MS. I have improved immensely over the last five years on Ocrevus, a B-cell depleting medication. There was a diagnosis for my condition. More importantly, there was an effective treatment unavailable to me for 13 years because I didn’t have that diagnosis. 

Erin P. Balogh et al. found emerging research that suggests teamwork will improve the diagnostic process. One study notes that medical students working in teams made fewer diagnostic errors than those working individually. Furthermore, collaboration among treating clinicians and clinical pathology teams resulted in better diagnostic test selection. 

Dr. David Newman-Toker from Johns Hopkins School of Medicine presented his thoughts on diagnostics in a webinar titled “Diagnosis as a Team Sport.” He believes that physicians are not the only professionals who can ensure a correct diagnosis — nurses, physical therapists, physician assistants and family members can also help prevent incorrect or missed diagnoses.  

I found that the patient is not always placed at the center of their care because providers are quick to assume patients don’t have the knowledge needed to help reach a diagnosis — but there’s no better source than the person living with the condition. Dr. Amir Babiker et al. believe teamwork will improve patient care: “Health care organizations should aim at providing exceptional patient care by adopting wide team-based culture in which certain values and principals are shared and transparently communicated among team members including patients who should be placed in the heart of the care.” 

I used to imagine sitting in a circle among a team of medical professionals. I saw myself providing my medical history, answering questions, and being an active member of my diagnostic team. Surreally, I’d visualize the doctors bouncing ideas off one another, sharing experiences of similar cases, and listening to the thought processes of their colleagues. In this daydream, collaboration led to my diagnosis.  

We must push for teamwork to be utilized in the diagnostic healthcare setting. Because every patient deserves to be diagnosed and treated in a timely manner. 

Lindsay Karp is a freelance writer with a background in speech-language pathology. Her work has appeared in USA Today, Stat News, Parents, The Cut, TIME, Salon, Newsweek, Insider and other outlets. You can follow her on X @KarpLindsay.