by Tessa Love
Illustrations by Kouzou Sakai
She suffered from joint pain, heart palpitations, and severe fatigue. Doctors tried to address her symptoms, prescribing her the anti-anxiety drug Xanax, attending to her acid reflux, or telling her to exercise.
But no one could figure out the root of her underlying health problems.
It took nearly three years and dozens of doctors before Case got a diagnosis:
While Case's disease is rare, autoimmune diseases are not - and neither is the difficulty of her journey to reach a diagnosis.
It can take a person an average of five years and five doctors to get diagnosed with an autoimmune disorder, according to the American Autoimmune Related Diseases Association (AARDA) - despite the fact that some 50 million Americans suffer from one.
Autoimmunity is now one of the most common disease categories, ahead of cancer and heart disease.
And while rates of the latter are falling, autoimmune diseases are being diagnosed with such frequency that some medical experts are calling it an epidemic.
Autoimmune diseases occur when the immune system turns on itself and attacks the body's own cells and tissues.
Beyond that, however,
there's little consensus on why this happens, what can be done to
stop it, or even what diseases can be classified as autoimmune.
And while advancements in technology and living conditions lead us to believe we should be healthier than ever - after all, the majority of Western civilization now has access to better medicine, clean water, and abundant food - doctors are beginning to understand some of the unintended consequences of these changes.
...all of which could
have something to do with the onset of autoimmunity.
This vexes researchers,
because autoimmunity is not only one of the most prevalent disease
categories but also fiendishly complex, a tangle of factors that
scientists have yet to fully understand.
Until recently, each illness was viewed as a unique and rare affliction, and doctors today still do not agree on the criteria of what constitutes the broader definition.
Even the number of diseases that AARDA recognizes as autoimmune - currently 100, including,
... is up for debate.
Noel Rose is known in the field as the father of auto-immunology for his pioneering work in the field, including a breakthrough discovery of thyroid autoimmunity in 1956.
University in Baltimore - the lab Rose retired from several
years ago - is still one of the few labs that research autoimmune
diseases as a whole. That's another problem facing the autoimmune
field - each disease within the category is still studied,
treated, and researched independently.
Unlike cancer, autoimmune
diseases do not need to be reported to the U.S. Centers for
Disease Control and Prevention (CDC)
or the National Institutes of Health (NIH), which means
there's no database to help researchers understand how many people
are affected, where cases are occurring, and how quickly incidences
of certain diseases are rising - all key data points for
scientists trying to understand what's happening.
They found that global instances of,
Frederick Miller is among many in the field who have spent decades pushing - without success - for an autoimmune disease database.
That failure means
illnesses like Case's remain medical mysteries until the right
combination of clinical science, symptoms, tests, pathologies, or
just plain luck come together to help doctors develop a diagnosis.
On top of that, doctors often dismiss a patient's symptoms as psychogenic and refer them to a psychiatrist. For Case, it was her gynecologist who finally solved the puzzle and suggested she get tested for a thyroid-related disease.
That was after she says many doctors dismissed her symptoms as related to depression.
"Autoimmune diseases, like many diseases,
are a combination of genetic susceptibility on one hand
and some exposure on the other."
It's possible that the apparent increase in autoimmune diseases may be chiefly the result of more reporting and more sensitive diagnoses, but most researchers in the field believe these factors alone cannot account for the rise in cases of autoimmunity.
Something else must be at
Scientists know that these diseases tend to cluster in families. When one family member has an autoimmune condition, other family members are at an increased risk of autoimmunity - though not necessarily of the same disease.
It's not uncommon for someone with rheumatoid arthritis to have an aunt with, say, ulcerative colitis or any number of seemingly unrelated autoimmune conditions.
What this means is that
one of the main factors contributing to autoimmune susceptibility
more generally is likely genetic.
Some research suggests that the fact that women have two X chromosomes could be a factor. The X chromosome is home to tiny pieces of genetic material called microRNAs, which are thought to be involved in immune system function.
While this is one reason
women live longer, it could also make their immune system more
susceptible to turning on itself.
but our increasingly industrial lifestyle
that is blocking the intake of
Scientists began noticing a steep uptick in cases of autoimmune disease and allergies in the 1980s and 1990s, while cases of infectious diseases such as mumps, measles, and tuberculosis were falling, largely due to the widespread use of vaccines and antibiotics.
Researchers theorized that these trends were related:
This observation was the genesis of the so-called hygiene hypothesis, the theory that sterile modern environments leave children vulnerable in unanticipated ways.
Researchers thought children should be introduced to more pathogens at a young age to build up the immune system. Scientists have since refined this theory.
According to Graham Rook, emeritus professor of medical microbiology at University College London, the immune system needs early and regular exposure to common and harmless microbes - bacteria, essentially - in order to learn how to react to threats.
These much-needed microorganisms come primarily from the natural environment and what's known as the maternal microbiome - the healthy bacteria we get from our mother in utero, through the vaginal canal, and even through breast milk.
These sources have been compromised in developed nations due to less exposure to green spaces, a less varied diet, the overuse of antibiotics, and falling rates of breastfeeding and natural birth, Rook argues.
People are exposed to a far less diverse range of microbes (or, in the case of antibiotics, those microbes are killed off), and that means our immune systems are less equipped to deal with the bacteria - good or bad - that comes our way.
It's not so much our cleanliness but our increasingly industrial lifestyle that is blocking the intake of these important microorganisms.
People who live in developed countries have higher rates of autoimmune diseases than people living in the least developed countries, and people living in rapidly modernizing nations are more susceptible to autoimmune disease as their countries modernize.
Studies show that
developed nations have less microbially diverse environments
than undeveloped ones, according to Rook, suggesting a strong link
between the onset of autoimmunity and a lack of exposure to diverse
They also acknowledge that there's a limit to how much individuals can do to steel themselves against autoimmunity.
There are some
80,000 chemicals approved for commercial use in the United
States that have not been adequately studied to determine their
effects on autoimmunity, according to Miller of the
Environmental Autoimmunity Group,
and some 5,000 are added every year.
Another study from 2005
looked at the fetal cord blood of 10 newborns from different
locations around the United States and found the presence of 287
industrial chemicals, all of which were transmitted to the infants
by their mothers before and during pregnancy.
Trichloroethylene, for instance, is a solvent used in refrigerators that has been detected in the U.S. water supply and has been found to trigger an autoimmune response and compromise the gut microbiome.
Mercury has been found to trigger lupus, and certain pesticides have been found to cause lupus and rheumatoid arthritis, to name just a few.
Vitamin D deficiency has also been linked to autoimmunity.
More than a billion people on the planet are vitamin D deficient, according to the International Journal of Health Sciences. A chronic deficit of vitamin D has been linked to such autoimmune diseases as,
Smoking is shown to potentially trigger,
...and more (though some studies have been inconclusive).
Miller says that even
meteorological components, such as ultraviolet radiation,
temperature, and humidity, could be triggering autoimmunity.
Every year, Americans are
reporting higher levels of stress and anxiety than the year before,
according to the American Psychological Association (APA),
citing everything from work and home life to technology to the
political state of the country as reasons for their worry.
Forty-five percent report
lying awake at night, 36% report feeling anxious, and 34% report
What the researchers found was threefold:
The study also found that
PTSD who were being treated with an
SSRI antidepressant had lower chances of developing an
In fact, part of the difficulty of determining whether any one of these triggers is more important than the others is that humans are increasingly mobile, which means our exposure to agents is not isolated.
Autoimmune symptoms take time to show up, making it difficult to know exactly what caused the problem in the first place.
I would go to a doctor,
they would say,
'There's nothing wrong with you'."
For Case, and millions of others, this has made the path to a diagnosis all the more frustrating.
While her broad range of symptoms are all associated with Hashimoto's, the disease doesn't show up the same in everyone, leading to a long line of misdiagnoses.
Of course, figuring out how to better diagnose autoimmune disorders is an important element to better serving people like Case.
But as Gilbert of the University of Arkansas put it, figuring out what's causing the diseases is what will ultimately change the game.