THE BLOG

Still Undiagnosed? 3 Options to Try

09/24/2014 04:05pm ET | Updated November 24, 2014
This post was published on the now-closed HuffPost Contributor platform. Contributors control their own work and posted freely to our site. If you need to flag this entry as abusive, send us an email.

Millions of people suffer from undiagnosed or untreated chronic conditions. The most difficult to diagnose tend to be autoimmune, inflammatory, and autonomic disorders like POTS (Postural Orthostatic Tachycardia Syndrome) in which multiple body systems that are supposed to work automatically don't work as they should and create a plethora of potentially disabling symptoms.

Such disorders tend to defy conventional medical practice because:

  • Primary care physicians (PCPs) aren't usually trained to recognize them.
  • They're not acute care episodes with predefined and fast treatment protocols.
  • They defy traditional medical "silos" that focus on single body parts or systems.

For patients with disorders that overlap traditional disease categories, three promising new avenues may be worth investigating:

  • Functional Medicine
  • National Institutes of Health (NIH) Undiagnosed Diseases Network
  • CrowdMed (web-based crowd-sourcing network to accelerate diagnoses)

Each offers a potential way of accelerating the diagnostic process.

1. Functional Medicine

Conventional medical care is at a tipping point: insurance reimbursements are shifting toward outcomes rather than activity, so the medical establishment will have to seek ways of ensuring that medical visits have a positive impact on patient health. It's hard to do that if you don't know what's wrong and why.

Functional medicine is an approach to patient care that looks beyond symptoms to define and treat the causes of debilitating chronic illnesses. It's focused less on individual symptoms and body parts than on learning which of the patient's biological processes aren't working, and why. As a result, it's particularly well suited to stubborn, complex medical conditions.

Unlike traditional medicine, which is focused on applying prescribed treatments to relieve immediate symptoms, functional medicine practitioners consider each patient's unique genetic / chemical make-up and critical environmental and lifestyle factors (including exposure to toxins). Then they tailor solutions to the individual. In other words, the diagnostic process starts with the person and not with predetermined solutions.

The Institute for Functional Medicine (IFM) is the organization focused on educating healthcare workers, developing new research models for assessing whole body systems, and incorporating Functional Medicine into physician training and continuing medical education (CME). Its website also helps patients to access information and find FM practitioners worldwide.

A major milestone bound to accelerate this transition is the launch on September 23, 2014, of a multi-million-dollar Functional Medicine Institute at the Cleveland Clinic, a prestigious healthcare system. This holistic initiative is intended to help transform conventional medical care for debilitating autoimmune disorders, autonomic nervous system problems, and other chronic conditions that have so far defied diagnosis.

2. NIH Undiagnosed Diseases Network

In 2008, the NIH launched an Undiagnosed Diseases Program at its clinical center in Bethesda, Maryland, as a research program that accepted only a limited number of patients.

In July 2014, this program was expanded into a network of leading hospitals, each of which would draw on multi-disciplinary resources to help advance both diagnosis and potential treatments. The participating centers include Harvard (integrating resources from Massachusetts General, Brigham & Women's, and Boston Children's Hospitals), Baylor College of Medicine (including Texas Children's), Duke University, Stanford University, UCLA, and Vanderbilt Medical Center. The Boston Globe reported that "coordination among these centers could help doctors see patterns that would be hard to detect in a single ill patient..."

Each rare or uncommon disease may only affect a small number of patients. Yet Dr. James Anderson, director of program coordination at the National Institutes of Health (NIH), was quoted by NBCNews.com as saying that such conditions "collectively affect about 10 percent of the population." This broader network of hospitals may be a useful resource to the thousands of patients who have spent years, untold dollars, and enormous energy seeking the key to restoring normal living.

3. CrowdMed

A very different kind of integrative approach is CrowdMed, which uses cross-disciplinary "medical detectives" and prediction market technology to accelerate diagnosis of complex conditions.

The founder, Jared Heyman, was motivated by his sister's experience seeing nearly two dozen doctors and incurring over $100,000 in medical bills without learning why she could sometimes no longer even get out of bed. An interdisciplinary team of top NIH medical experts finally discovered that Carly had a rare genetic mutation resolvable by wearing a simple hormone patch

Thousands of other patients and caregivers are struggling in search of diagnoses and treatments for uncommon or underdiagnosed conditions that present with a confusing array of changeable symptoms that don't match the conditions traditionally taught in medical schools. These include Lyme Disease, Fibromyalgia, Chronic Fatigue Syndrome, and POTS. Because physicians often mistakenly deem such conditions as having psychological causes or simply refer the patient to one specialist or another when the physiological cause can't be found quickly, patients may invest many years and thousands of dollars without ever finding a solution.

CrowdMed rests on two fundamental principles: The patient "owns" and leads the diagnostic process, and information shared among diverse thinkers (called "medical detectives"), interacting with the patient, can accelerate diagnoses and treatments.

CrowdMed makes no guarantees, but since its founding in April 2013, it has served over 400 patients, more than half of whom report that they've been brought closer to a correct diagnosis or cure. Based on patient feedback, Heyman estimates that their solutions have been achieved 50 times faster and at 0.3 percent of the cost that would be incurred in our traditional medical system.

It's possible to submit a case at no cost beyond a refundable deposit, but paying a little more does get more attention from more detectives for a longer period. CrowdMed medical detectives are compensated based on their results for patients, rather than for their professional status, time spent, or the number of cases they examine.

For those patients who are desperate to find out why they're sick and how to restore normal life, Functional Medicine, the Undiagnosed Diseases Network, and CrowdMed might be worth considering.