List of Rare Diseases
1. Hutchinson-Gilford Progeria: (aka, the aging disease)
The word "Progeria" is derived of Greek origins meaning "prematurely old". The reason being, patients born with this disease have a much quicker aging process compared to those who are not. 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 to 2 years old. With the average life span of 13 years old, children with Progeria commonly pass away from heart disease. However, there are some cases of Progeria that survive long, with the oldest on record being 21 years old.
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
For more on Progeria:
Boy with Progeria raps
2. Werner's Syndrome Progeria: (aka adult progeria)
Like the above Progeria disease, Werner's also makes the body age rapidly. The main difference between these 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.
In 1904, the condition was identified by Otto Werner, a German scientist who observed and four siblings suffering from premature aging. The disease has been reported in 1 out of 100,000 live births, worldwide. However, the rates are higher in Japan (1 out of 20,000 to 40,000) and Sardinia (1 out of 50,000).
Since 2006, there have been 1,300 reported cases. Typically, aging occurs normal until puberty, with the average age of diagnosis being 24 years old. The youngest individual diagnosed was six years old.
3. Leigh's Disease:
An inherited disorder which attacks the central nervous system. Typically, this is diagnosed between 3 months and 2 years old 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 include a lack of motor skills and head control. With the progression of Leigh’s disease, it can cause seizures, 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:
Cushing’s is a hormonal disorder caused from the body's tissues being exposed to high levels of hormone cortisol for a prolonged period. Cushing’s can be caused by taking glucocorticoids (steroid hormones) as they are made similar to the natural cortisol the body produces like prednisone. Some people get Cushing's syndrome due to their bodies creating more cortisol than normal. Usually, this follows a precise path or chain of events:
Some signs and symptoms
- A majority of people with Cushing’s have upper body obesity (rounded face, increased fat of the neck, with slender arms and legs)
- Signs of the skin include bruising easy, heal slowly and poorly, purple or pink stretch marks around the abdomen, thighs, buttocks, arms, and breasts.
- Females with Cushing’s 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 dysfunction.
Some other common symptoms are:
- Severe fatigue
- Weak muscles
- High blood pressure
- Increased thirst and urination
In addition to humans, other species are able to fall victim to Cushing's disease as well. For example, did you realize that your pet even has a chance of contracting the disease as well? Yep, if your dog is producing too much glucocorticoid because of an issue within the adrenal gland or pituitary gland, it may have Cushing's too.
For more on Cushing’s disease: