Rare diseases
A few days ago, news appeared in the newspapers about the seven-year-old girl who feels no hunger or pain or sleep. A case of exceptional rarity, like so many others we don't know. For this reason, it occurred to me to investigate some rare diseases and I found three that caught my attention.
The first, called "Congenital Pain Insensitivity," has symptoms similar to those of the girl, such as the absence of pain. It affects the autonomic nervous system, which regulates pressure, sweat and temperature.
As patients do not distinguish painful stimuli, they run the risk of injury and loss of life. Therefore, they must always be accompanied from an early age to avoid being injured involuntarily. Young children may bite their fingers, burn or present other wounds that accumulate without realizing it. At the moment, only 20 cases were registered in the scientific literature.
The second disease is progeria. Remember the movie “The Curious Case of Benjamin Button”, starring Brad Pitt?
Affected people grow older prematurely and quickly, and do not exceed fifteen years of life. It affects one of seven million people, usually children. Patients have growth difficulties and their skull reaches a large size, compared to their height. In addition, they have alopecia, wrinkled skin and stiff joints. At the moment, it has no cure or treatment.
In Bangladesh, doctors are studying whether a seven-year-old child, with signs of premature aging, suffers from the disease. Because of his symptoms and his appearance, they are almost convinced that it is this disease and that he will not be able to live more than thirteen years.
The third disease is fishy smell syndrome. It is so named for the characteristic smell that affected people have. It is also called trimethylaminuria. The smell is due to a metabolism problem, which causes a failure in the oxidative system of a liver enzyme, trimethylamine. When the enzyme passes into the blood, the smell is manifested through breath, urine and sweat.
I hope this article has amazed you as much as me.
Till my next post!
Sources
1-https://ghr.nlm.nih.gov/condition/congenital-insensitivity-to-pain
2-https://www.diarioinformacion.com/vida-y-estilo/salud/2015/01/30/10-enfermedades-raras/1593935.html
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