As we evolve, the kinds of diseases that we can get afflicted by also change and evolve over the years. There are many rare diseases about which not much is known because they occur in so few people, and so, they have not been researched adequately.
By definition, rare diseases are those that affect fewer than 200,000 people in the US. Some of these might affect thousands of people and yet others might affect not even ten people. Nevertheless, a disease is still a disease and comes with its own set of problems. What makes rare diseases problematic is the limiting amount of research done on them and the fact that the ways to control them are equally few.
Here’s a look at 20 diseases that are considered rare by the National Institute of Health:
- Gigantism - As the name suggests, sufferers of this disease grow inveterately tall and heavy. This is because there is a benign tumor in the pituitary gland that causes more secretion of the growth hormone than is required. As a result, these people also have larger organs that could cause numerous problems such as profuse sweating and breast milk secretion.
- Pica – Typically found in young children and some pregnant women, pica is classified as a rare disease which causes people to eat things like paper, clay, paint, and even dirt.
- MSUD – MSUD or Maple Syrup Urine Disease is an inherited disease and occurs when there is accumulation of amino acids in the body because the body cannot break them down. The symptoms of this disease can start in infancy and cause various problems such as seizures, delays in development, and vomiting. The name is derived from the smell of the urine, which smells strangely like maple syrup.
- Situs Inversus – Can you imagine how it would be if your heart was not on the left but on the right side of your body? It’s not science fiction or a scene from a B grade film, but fact. People suffering from this condition have the internal organs of their chest and stomach lying in the mirror positions of where they originally should be. People with Situs Inversus should wear some sort of identification to prevent doctors from making mistakes during emergencies.
- Trigger Thumb – Just imagine how frustrating it can get if your thumb or finger got locked down in one position! People who have this disorder find that their thumbs or fingers get stuck in the locked position which can then straighten with a painful snap or even remain stuck.
- Scurvy – In the olden days, sailors used to suffer from scurvy because they had vitamin C deficiency. Scurvy exists even today in the US, with mostly malnourished adults facing problems such as bleeding gums, gum disease, skin lesions and swollen joints resulting from the condition.
- Wilson’s Disease – Wilson’s disease is a genetic disorder where people store excess copper in their tissues, even those such as the brain and the liver. Although the body requires some amount of copper, an excess of the same can cause liver failure and other problems as well.
- Foreign Accent Syndrome – The joke in many a sitcom is now officially a disease. People who switch accents are not doing it for fun as in the sitcoms, however. These people suffer from Foreign Accent Syndrome, where brain trauma or multiple sclerosis can cause people to change their accent. The causes are still unknown.
- Stiff Person Syndrome – As suggested by the name, people suffering from this neurological disorder face stiffness in muscles and rigidity, as well as painful muscle spasms.
- Carcinoid Syndrome – Ever thought that blushing was cute? Not for those who have Carcinoid Syndrome. Carcinoid tumors which cause secretion of excess serotonin result in wheezing, hotness, and constant facial blushing.
- Cyclic Vomiting Syndrome – People suffering from CVS face severe episodes of vomiting that can go on for days and then disappear without a trace for some time.
- Peeling Skin Syndrome – Those suffering from this disease find that the skin of their hands and feet or even other parts of their body are constantly peeling away. There is also itching and redness in the skin due to this disease.
- Platelet Storage Pool Deficiency – There are many platelet abnormalities out there, and this is the term usually used to describe them. This disease causes nose bleeds, excessive bleeding during surgery, and bruising as well.
- ACDC – This is an extremely rare disease, so rare that only nine people in the US are known to have this disease. ACDC stands for Arterial Calcification due to CD73 Deficiency, which causes calcium to accumulate in the joints of the hands and feet and in the arteries below the waist.
- Conversion Disorder – Sometimes after an extremely traumatic event, people are unable to see or move. This sudden blindness or paralysis is termed Conversion Disorder.
- Ochronosis - External tissues in the ear cartilage or eye turn blue or black, and it can even occur throughout the body. Over time, these areas can completely degenerate.
- Hairy tongue - Excess growth of bacteria on the tongue can make the tongue look like it has got a black, hairy texture. This is harmless and can be treated with antibiotics.
- Ochoa Syndrome - Infants suffering from this disease are usually trying to smile but instead, their face looks like they are grimacing. These people also have a urinary abnormality which causes incontinence. This can later on develop into renal failure, which can become fatal.
- Eagle Syndrome – Something stuck in your throat? It could be a calcified ligament or elongated bone which also causes ear and throat pain and difficulty in swallowing.
- Progeria – Another rare disease wherein children are born normal but begin to develop wrinkles and hair loss like old people when they are just a year old.
Reference: – http://www.huffingtonpost.com/2011/02/28/rare-disease-day_n_828327.html#s246156&title=Gigantisism