Rare Versus Under-diagnosed Diseases

I have 3 autoimmune conditions: celiac disease, Graves’ disease, and thyroid eye disease. One of these is categorized as a rare disease, and one is statistically under-diagnosed. Can you guess which those are?

The rare disease: thyroid eye disease

Thyroid eye disease is categorized as a rare disease. With this autoimmune condition, the body attacks the muscles behind the eyes, which can cause a number of serious symptoms ranging from intense dryness, redness, and light sensitivity to pain, vision loss, eyelid retraction, and proptosis – the swelling pushes the eyes unnaturally forward, complicating symptoms, possibly preventing the eyes from fully closing, and often causing facial disfigurement. Out of 100,000 people, about 16 women and 3 men have thyroid eye disease.1

The under-diagnosed disease: celiac disease

Celiac disease, on the other hand, affects about 1 in 133 Americans, or 1 percent of the population. Pretty common, right? Some experts believe that it may be even more common than that. So much is unknown because currently, about 83 percent of people who have celiac disease are either undiagnosed or misdiagnosed. And with over 250 possible symptoms, it’s easy to understand why so many people do not have the correct diagnosis.2,3

Health effects of undiagnosed celiac disease

With celiac disease, an autoimmune reaction is triggered by the consumption of gluten, resulting in damage to the small intestine. In my experience, many people wrongfully assume that celiac only causes gastrointestinal issues. But what about migraines, joint pain, anxiety, depression, anemia, brain fog, or even dental issues? Or how undiagnosed celiac and prolonged gluten exposure can cause long-term complications like osteoporosis, infertility, other autoimmune conditions, or cancer?3

Diagnosing celiac disease

Celiac can look like so many things that it can make the diagnosis process very difficult. Many people I know with celiac only got the correct diagnosis because they specifically asked their doctor for a test (that is also my story) or stumbled upon the diagnosis by accident (perhaps their doctor was performing an endoscopy for another suspected issue and found damage caused by celiac). It’s easy to understand how a doctor could mistake symptoms for something else or just end up treating the symptoms and not realize that there is an underlying cause.

What rare and under-diagnosed diseases have in common

Though technically, thyroid eye disease is a rare condition and celiac disease is not, they have so much in common. With so few people diagnosed with these diseases, I find that others outside of both communities struggle to understand the complexity of these conditions, how much they impact my daily life, and how often they affect my mental health.

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I often see visitors come to RareDisease.net and leave comments to ask if their condition is considered rare, perhaps questioning if they belong in this space. I’ve spoken with many other advocates in different communities, and while specific symptoms and nuances may be different, there are so many broader experiences that we share – the struggles to find the right doctor, obtain appropriate medical care, find support and understanding from loved ones, adjust to a “new normal,” and navigate the world with so many additional factors in play.

Whether a condition is rare, under-diagnosed, chronic, or misunderstood, there is so much that we all have in common and so much that we can learn from each other. I always do my best to welcome everyone to this space. We are stronger together.

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