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Genetic Sequencing: an Innovative Method of Confirming your CrowdMed Diagnosis

What is Genetic Sequencing?

Imagine that your body has an instruction manual. It would be millions of pages long, delegating everything from the color of your eyes to the shape of your toenails. Now imagine that there was a single typo somewhere in those millions of pages. It is this typo, or mutation, that causes disease. Genetic sequencing is a computerized method of locating that mutation.

There are two types of genetic sequencing:

  • Whole genome sequencing analyzes all of a patients genes. It costs more but produces more information for research.
  • Exome sequencing analyzes the small portion of your genes where most mutations occur.

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StrangeSick

7 Strange Symptoms You Shouldn’t Overlook

As many rare disease sufferers know, sometimes the key symptom that leads to a diagnosis may be mundane or bizarre.  Whether you are healthy or chronically ill, daily life is full of other concerns to distract you from the seemingly harmless quirks of your body.  Many of these strange ailments are completely benign or explained by something you had not considered, but some may be a message from your body that something is wrong.

Keep in mind that most of these symptoms may occur periodically in any person’s life and are easily explained by other causes.  If your symptom becomes severe, seek medical attention immediately.  If you are experiencing other health issues, however, you may want to mention your strange symptom to your doctor.  It could be another clue in finding the right diagnosis.

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face of a mask-wearing woman with fear in the eye.

The Epidemic No One Is Talking About: Rare Disease [Infographic]

There is an undiscussed epidemic happening in our country, and around the world: rare disease.  Rare diseases are incredibly hard to advocate for, despite the fact that they affect so many people.  Precisely because they are rare, it’s hard for companies to make money off them, doctors to educate themselves about them, and patients to advocate for them.

But combined, as you’ll see in the infographic below, these diseases affect more people than the biggest headline-grabbing diseases on the planet.  And that’s why organizations like UR Our Hope (who we partnered with to make this infographic), are slowly beginning to use the power of the internet and crowd mobilization, to make a case that these diseases need more attention. Read more

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5 Diseases Modern Medicine Missed For A Very Long Time

There was a time in history when nearly every medical condition recognized today was an unidentified mystery.  Rabies victims in Europe inspired stories of the holy water-fearing undead and citizens of Salem suffering from Ergot poisoning were hanged for witchcraft, long before medicine had a name and a treatment for either malady.  As medical research and happy scientific accidents led to discoveries like Germ Theory and penicillin, our ability to identify and address common health concerns grew.

Although we have come a long way since the days of humor balancing and unnecessary bloodlettings, there is still a lot that the healthcare field doesn’t know about the complexity of the human body or its response to our ever-changing environment.  In fact, some of the conditions that we would never second guess today were dismissed by the medical community less than a century ago.  A few of them may surprise you.

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What To Do After You’ve Been Diagnosed With A Rare Disease

Rare diseases, also called ‘orphan diseases’ are diseases that affect only a small number of people in the population at any one time.  In the US, a disease is classified as ‘rare’ if it affects fewer than 200,000 people in a given time period, and in Europe if it affects less than one in 2,000.  There are approximately 6,800 such diseases according to the National Institutes of Health (NIH).

Because most rare diseases can cause changes requiring major lifestyle modification (depending on the severity and prognosis), there are several steps you can take to find a solution or to help you cope better with your new situation.

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Lupus Disease

Diagnosis Spotlight: Lupus

Lupus: The Basics

Inside nearly every human body, there exists a vast expanse of cells that fight infection. Like a tiny army, it descends upon foreign invaders and swiftly eliminates the threat. It most cases, it’s a system that works well. In some cases, however, a significant problem arises.

Lupus, occurs when the human immune system destroys infection as well as health tissue and organs. As a result, patients will experience ongoing pain, inflammation, and malfunction throughout the body (Understanding, 2015).

One of the most distinct symptoms of lupus is a persistent rash across the nose and cheeks called a butterfly rash. There are also a host of other symptoms including debilitating fatigue, headaches, fever, pain and swelling on the joints, chest pain, hair loss, and ulcers of the nose and mouth (Diagnosing, 2015).

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What To Do When The Doctor Says “It’s All In Your Head”

A new phenomenon is rising in prominence in the public discussion of health.  Despite the significant improvement in clinical procedures, a small but important part of the population evades an easy diagnosis.  Often referred to as Medically Unexplained Physical Symptoms (MUPS or sometimes MUS), patients who suffer from these clusters of seemingly unrelated complaints stump general practitioners and specialists alike.

On average, U.S. patients with rare undiagnosed or misdiagnosed conditions wait a little over 7 years for a diagnosis.  The longer a patient waits for an answer to their medical mystery, the more uncertain they feel about not only their health, but also their future.  As time goes on and the uncertainty grows, the chronically undiagnosed start to believe that those around them are skeptical that their illness exists.  Eventually even they start to question, “Is it all in my head?”

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