Isabel, a cute 10-year-old girl from Texas who loved riding horses, walked into my office a year and a half ago with one of the most severe cases of autoimmune disease I had ever seen. Her face was swollen, her skin was inflamed, her joints were swollen, her immune system was attacking her entire body--her muscles, her skin, her joints, her blood vessels, her liver, and her white and red blood cells. Isabel couldn't squeeze her hand or make a fist. The tips of her fingers and toes were always cold from Raynaud's disease that inflammed her blood vessels. She was tired and miserable and was losing her hair. Isabel was on elephant doses of intravenous steroids every three weeks just to keep her alive, and she was taking prednisone, aspirin, acid blockers, and methotrexate, a chemotherapy drug used to shut down the immune system daily.
Despite these megadoses of medication she still wasn't getting any better, and her lab tests were still abnormal. Her doctors wanted to add another powerful immune suppressing drug (a TNF alpha blocker) to the regimen of medication she was already taking. This drug increases the risk of cancer and death from overwhelming infection, because it prevents the immune system from fighting infections normally. The inflammation slows down thus the autoimmune symptoms may abate, but you are risk for cancer and infection. Unwilling to accept this as the only course of treatment, they came to see me.
Two months after I first saw Isabel and discovered and treated the underlying causes of her inflammation--after, as she says she, "stopped eating gluten, dairy, and sugar and took some supplements" she was symptom free. In less than a year, she was completely healthy, her blood tests were normal, and she was off all her medication.
If her story is true (and it is), what are the implications for research on autoimmune disease and our approach to treating these disorders which now affect over 24 million Americans and 5 percent of the population in Western countries? These diseases include type 1 diabetes, lupus, rheumatoid arthritis, multiple sclerosis, colitis, Crohn's disease, and dozens of others, but they have one thing in common: The body attacks itself. Is there another way to treat these problems than powerful immune suppressive drugs that put patients at increased risk of infection and death?
Watch Isabel tell her story.
The Unfortunate Demise of the Case Study in Medicine
Historically medical discoveries originated from physicians' keen observation of their patients' diseases and responses to treatment. Doctors reported their findings to their colleagues or published them as case studies. Today these "case studies" are often dismissed as "anecdotes" and have become increasingly irrelevant. Instead, we now focus on randomized controlled trials as the only standard of "evidence". Sadly, this dismisses the experience of thousands of patients and physicians as they apply new scientific findings to treat difficult conditions.
Basic scientific discoveries often take decades to be translated into medical practice. Unfortunately, this prevents millions from accessing therapies that could benefit from them now. The determining factor in deciding whether to try a new approach with a patient is the risk/benefit equation. Is the treatment more likely to help than harm? How risky is the treatment? What are the side effects? How dangerous or risky is the current approach to a problem? How debilitating or life threatening is the disease being treated? These questions can guide exploration toward innovative approaches to chronic disease.
Except for treating infections with antibiotics and treating trauma, medicine today approaches most disease by suppressing, covering over, blocking, or otherwise interfering with the body's biology. We generally do not attempt to seriously address the underlying problems that lead to the disease in the first place. For example, cholesterol medications block an enzyme that produce cholesterol (among other important molecules like CoQ10), but they don't address why cholesterol may be high in the first place (factors like diet, exercise, stress, and genetics). Doctors use beta-blockers, calcium channel blockers, SSRI's (serotonin reuptake inhibitors), ACE-inhibitors, antibiotics, and anti-inflammatories. We are inhibiting, blocking, or anti-ing everything. But we don't ask one simple question:
Why is the body out of balance and how do we help it regain balance?
There is a new approach to medicine that is beginning to ask these questions.
Functional Medicine: Treating Causes, Not Symptoms
I just lectured at the Institute for Functional Medicine's basic training course for physicians. Even though the course is expensive--because unlike most other continuing medical education pharmaceutical companies do not support it--this conference was sold out. There were practitioners from 27 countries, and 24 faculty members from medical schools.
Functional medicine is a hidden movement sweeping across the globe, and it is based on a different method of diagnosing and treating disease--one that focuses on causes not symptoms, one that is based on an understanding of the dynamic way our genes interact with environment, one that goes beyond simply treating diseases based on their label. The training I lectured at teaches practitioner to understand the body as a system; to seek the causes of illness; to understand the body's basic functional systems, where they go awry, and how to restore balance; to understand the interconnections between symptoms and organs rather segregate diseases into specialties.
This approach is a fundamentally different way of solving medical problems, one that allows us to decipher the origins of illness and identify the disturbances in biology that lead to symptoms. Let's see how this approach worked for Isabel.
From Conventional Illness to Functional Health
For Isabel, the only response physicians had to her life-threatening illness was to shut down her immune system, leaving her at risk for cancer, infection, osteoporosis, muscle wasting, and psychiatric illness. But there was another way. I simply asked the question WHY. I didn't focus on WHAT the name of her disease was (mixed connective tissue disease, otherwise known as an autoimmune disease that affects the whole body), but WHY she was inflamed, WHERE this inflammation originated from, and HOW we could locate the causes and restore balance to her overactive immune system that was attacking her own body?
The immune system usually responds to some insult such as an allergen, a microbe, or a toxin, and then runs out of control. Finding and removing that trigger is essential. In a review in the New England Journal of Medicine, it was acknowledged that "even in a genetically predisposed person, some trigger, an environmental exposure, or change in the internal environment -- is usually required for [autoimmunity]." (i)
When I talked to Isabel the first time, I found many potential triggers for her inflammation. She was being exposed to a toxic mold, Stachybotrys, in her house. Her mother worked in limestone pits exposing her to excessive amounts of fluoride while pregnant. Isabel had all her immunizations before 1999 when thimerosol was removed from vaccines. She also had a thimerosol-containing flu shot every year. Thimersol contains mercury and mercury is a known immune toxin. This problems was compounded by her diet which included large amounts of tuna and sushi which she loved and ate regularly (and which exposed her to even more mercury), and loads of dairy, gluten, and sugar. In the year before she got sick, she also had many courses of antibiotics.
Mold, mercury, antibiotics, sugar, dairy, gluten--all potential immune irritants.
Isabel's lab tests at her first visit with me were frightening. Her muscle enzymes and liver function tests showed severe damage. She had many autoimmune antibodies (anti-nuclear antibodies, rheumatoid factor, anti-SSA, anti-DNA, anti-RNP, lupus anticoagulant), a sign that the levels at which the body was attacking itself were extremely elevated. Other markers of inflammation were extremely high as well. Her white blood count and red blood cell count were low. Her vitamin D was also low. She had elevated levels of antibodies to gluten, which is a common cause of autoimmune disease and triggers significant intestinal inflammation. And her mercury level was extremely high in her urine after a provocation test (the only way to assess total body burden of metals). Normal is less than three. Hers was 33.
At the first visit, I simply put Isabel on an anti-inflammatory elimination diet to remove possible triggers of inflammation from food allergens. She stopped eating sugar, dairy and gluten (from wheat). I gave her a multivitamin; vitamins D, B12, and folate; fish oil; and evening primrose oil all of which are anti-inflammatory. I also gave her nystatin (a non-absorbed anti-fungal) to treat suspected yeast because of her multiple courses of antibiotics. I gave her NAC to support her liver, and told her to get off the acid blocker, the calcium channel blocker, which she used for her Raynaud's, and the intravenous steroids she had been taking.
After two months her rash was totally gone. She had no joint pain and her hair was growing back. Her autoimmune markers had dramatically improved. Her muscle enzymes, liver function, and level of inflammation were all normal.
At the second visit two months later, I added probiotics to support healthy digestive function and reduce gut inflammation. I also started her on DMSA (a chelating agent) to help bind the mercury from her tissues and cells and help her excrete it. To help her get off the prednisone I gave her herbs to support her adrenal gland function.
Seven months later, her tests were normal, including her white blood count. Her mercury came down from 33 to 16. After 11 months, her mercury was down to 11 and her gut inflammation was gone. She was off all her medications and feeling happy, normal, and was able to ride and show her horse again.
Some may dismiss this as an anecdote, or a "spontaneous remission", or claim the testing methods unconventional, or the treatments used unproven. But if there is a shimmer of a possibility that this approach works, that it can help patients recover from some of the most debilitating, devastating human diseases out there, are we not obligated to investigate further? Shouldn't we expect that scientists and physicians would be motivated into new avenues of research, that the National Institutes of Health would fund studies to test this model? And if found to be effective, shouldn't academic medical schools change their curriculum and teach this new method of practicing medicine? This is the mission of the Institute for Functional Medicine, but it needs help because it has no funding from the usual sources: government and pharma.
Isabel's experience is not rare. The approach of finding and removing triggers of disease such as hidden microbes, toxins, or allergens, and supporting the body's function with nutrients and herbs and "pro" drugs such as probiotics is more than idea that needs to be proven. It is a movement that is now being practiced by thousands of practitioners at the cutting edge of medicine. It is an approach called functional medicine that has helped tens of thousands of patients worldwide. Shouldn't this revolutionary new method of practice be expanded and made available to more patients? Isabel's story should be common. We have the knowledge and the methods. Now we just need to apply them.
To your good health,
Mark Hyman, MD
(i) Mackay, I. and Rosen, F. 2001. Autoimmune diseases. New Engl J Med. 345(5): 340-350.
Mark Hyman, M.D. is a practicing physician, founder of The UltraWellness Center, a four-time New York Times bestselling author, and an international leader in the field of Functional Medicine. You can follow him on Twitter, connect with him on LinkedIn, watch his videos on YouTube, become a fan on Facebook, and subscribe to his newsletter.