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List of Rare Diseases

Updated on January 13, 2017
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Billy Haynes owns HD Writing Co. and is also a freelance writer, editor and web designer from Paragould, Arkansas.

Leigh's Disease
Leigh's Disease | Source


Progeria | Source


Not all is sad with Progeria though...

Boy with Progeria raps

List of rare diseases:

Since the Rare Disease Awareness Day is right around the corner, here is an informative list of some rare to really rare diseases. A rare disease is defined by the Rare Disease Act of 2002 as any disease or condition that affects less than 200,000 people in the United States or about 1 in 1,500.

Keep in mind below are only a few of the growing list of rare diseases. Doctors and researchers are still trying to find cures for the majority of the rare diseases, and many are so rare they have not been able to find a way to treat many of the rare diseases. For example Progeria (aka the aging disease), calling this a "rare disease" is an understatement as there are only a few dozen diagnosed progeria patients worldwide.

When a disease so rare exists it's hard to learn about it. Most children diagnosed with a rare disease often do not live past the age of 5.

1. Hutchinson-Gilford Progeria: (aka, the aging disease)

The word "progeria" is derived of Greek origins meaning "prematurely old". This is because the disease which patients are born with cause them to age at a very rapid rate. The disease is so rare that you may have heard of it and thought it was a story someone made up, the 10 year old who looks 80 years old. But sadly, it is a real disease.

Children with Progeria usually look healthy when they are born and do not start showing signs until 1-2 years old. With the average life span of 13 years old, children pass away from heart disease. And have the range of 8 - 21 years of age.

Signs of Progeria:

  • Growth failure
  • Loss of body fat and hair
  • Aged-looking skin
  • Stiffness of joints
  • Hip dislocation
  • Generalized atherosclerosis (heart disease)
  • Cardiovascular (Heart) disease
  • Stroke

For more on Progeria:

2. Werner's Syndrome Progeria: (aka adult progeria)

Like the above progeria disease, Werner's also makes the body rapidly age. The main difference between the two rare diseases are the onset age and the overall life span. The life span of Werner's "adult" Progeria is the late teen years, with a life span into the 40's and 50's.

3.Leigh's Disease: An inherited disorder which attacks the central nervous system, diagnoses is usually between 3 months and 2 years with the symptoms progressing rapidly. Those with more severe cases may only live a few years, if they do not have severe cases they may live to 6 or 7 years old, and some have lived to see their mid-teens. Some of the signs are lack of motor skills and head control, with progression it can cause seizures and cause respiratory and kidney problems.

"Leigh's disease can be caused by mutations in mitochondrial DNA or by deficiencies of an enzyme called pyruvate dehydrogenase." (N.I.N.D.S) The patient is commonly given Vitamin B1 or thiamine to help treat the disorder. The patient may also be requested to go on a new diet of high fats and low carbs, if lactic acidosis is a problem they may be given sodium bicarbonate or sodium citrate to manage them.

For more reading on Leigh's Disease and Mitochondrial diseases:

4.Cushings: Cushings is a hormonal disorder caused from the body's tissues being exposed to high lvevels of hormone cortisl for a prolonged period. Cushings can be caused by taking glucocorticoids (steriod hormones) as they are made similer to the natural cortisol the body produces like prednisone. Some people get Cushing's syndrome due to their bodies creating more cortisol than normal. This way usually follows a precise path or chain of events:

Some signs and symptoms

  • A majority of people with Cushings have upper body obesity (rounded face, increased fat of the neck, with slender arms and legs)
  • Signs of the skin include brusing easy, heal slowly and poorly, purple or pink stretch marks around the abdomen, thighs, buttocks, arms, and breasts.
  • Females with Cushings may have excess hair growth in certain places such as face, neck, chest, abdomen, and thighs. Men may have little or no desire for sex and may have erectile dysfuntion.
  • Some other common symptoms are:
    • Severe Fatigue
    • Weak Muscles
    • High Blood Pressure
    • increased thirst and urination
    For more on Cushings disease:

Cushing's Support & Research Foundation


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    • profile image

      Jiggles 5 years ago

      Very Informative. Could have had more information about where to visit to learn more and if there were any type of foundations that research it. But Hey good job !

    • Bills Place profile image

      Billy Haynes 5 years ago from Paragould, AR

      Thank you, when I get time I do plan to expand on this article with more rare diseases and will work on adding additional information to the current ones. :)

    • Adroamide Inc profile image

      Adroamide Inc 5 years ago

      Great article!!

    • Bills Place profile image

      Billy Haynes 5 years ago from Paragould, AR

      Thank you! :)

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