Let’s talk about Rare Diseases: Awareness, Examples, & Symptoms

Have you ever heard of a water allergy? Or a laughing sickness? How about Alice in Wonderland Syndrome? 1 in 10 Americans is living with a rare disease. With a lack of research around many of these rare diseases, some of them are nearly inexplicable. They might be new to us, but they’re certainly not new.

It’s not uncommon that people living with rare diseases see long waiting periods before even being given a result. In fact, it can take five years or longer to receive an accurate diagnosis, and more than 40% of these patients are initially wrong. Talk about some elusive conditions. 

In order to start on the path of recovery, patients must have this correct diagnosis, meaning this long waiting period can sadly have critical, long-term, and even fatal consequences for these individuals.

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What’s a rare disease anyway? In the United States, a disease is classified as rare if it affects less than 200,000 Americans. Just how many of these are there? How many folks are affected? According to the National Institutes of Health (NIH), there are over 7,000 rare diseases affecting between 25 and 30 million Americans.

Can you be allergic to water? Beautiful and perfect water? The answer is yes! Maybe you’ve already heard about the woman who is allergic to water. Aquagenic urticaria, also known as a water allergy, is a rare form of physical urticaria, which is a condition in which red allergic skin lesions and itching develop on the skin.

It’s important to love your guts, and love the skin you’re in, even when it seems to be working against you. Are you or a loved one struggling with their skin? Let’s help them learn to love their skin a skin plush toy to snuggle with on the difficult days, or this empowering t-shirt as a gentle reminder.

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Morgellons disease is another rare disease that revolves around the skin, but is widely seen as a neurological condition. People who have been diagnosed with Morgellons disease have symptoms of skin rashes or skin sores that cause discomfort and itching, crawling sensations on or under the skin.

This disease is poorly understood, and the medical consensus is that it’s a form of delusional parasitosis. Some doctors, therefore, treat Morgellons with cognitive-behavioral therapy (CBT), counseling, antidepressants, and/or antipsychotic medications.

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That brings us to the brain organ stuffed animal. There are so many rare diseases that revolve around our neurological makeup. Have you ever heard of Alice in Wonderland syndrome (AIWS)? 

People living with Alice in Wonderland Syndrome may view things smaller than they are or feel their bodies alter in size. AIWS is a rare neurological disorder characterized by distorted body image, visual perception, and even time perception.  

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What about bursts of laughter as a symptom of a rare disease?! Kuru Disease, also known as “laughing death” or “laughing sickness,” is classified as a prion disease. A prion is a type of protein that can trigger normal proteins in the brain to fold abnormally. 

This type of disease can affect both animals and humans and can be spread from the former to the latter by infected meat products. Aside from pathologic bursts of laughter, symptoms of Kuru Disease include tremors and muscle jerks, headaches, difficulty walking and swallowing, arm and leg pain, and increasingly severe loss of coordination.

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And have you ever heard someone speak with a different accent that isn’t their native tongue? Did you know that this is actually a symptom of Foreign Accent Syndrome (FAS)? 

No, this doesn’t mean you get to diagnose your goofy (or offensive) friends with a rare disease. 

Foreign Accent Syndrome is most common after a head injury, stroke, or other brain trauma. Symptoms of this rare disease include changing sound quality by moving the tongue or jaw differently while speaking, using the wrong words to describe something, or making vowel sounds that are longer and lower such as switching from the English “yeah” to the German “jah.”

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Finally, here’s another rare disease that’s related to neurological conditions, but can really take its toll on the stomach, and the digestive system: Pica. Pica (pronounced PIE-kuh) is a compulsive eating disorder in which a person eats non-food items. Children often put objects in their mouths because they’re curious or don’t know any better, but kids with pica take it a step further, potentially eating items that can lead to health complications. 

Dirt, flaking paint, and clay are among the most common items eaten by people with pica. Less common items include glue, hair, cigarette ashes, and even poop. Read more about pica from the National Eating Disorders Association (NEDA) and get yourself this bowel movements t-shirt

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