That’s actually a fairly broad category that might include thousands of diseases. Spreading awareness is critical because it allows people to determine if they are suffering from a condition that may be treated.
Unfortunately, many rare diseases are now without therapies or treatments due to a severe lack of persons willing to engage in scientific investigations.
In this post, I examine five diseases that require more scientific research, money, and public awareness:
1. Stoneman Syndrome
Fibrodysplasia ossificans progressive (FOP), also known as Stoneman Syndrome, is a condition in which connective tissue, such as tendons, muscles, and ligaments, gradually changes into bone.
The diseases progress from the neck to the shoulders, then down the body to the lower extremities, and lastly to the legs. Because the condition affects the joints, body movements will become increasingly restricted. The patient has difficulty opening his mouth, which makes eating and speaking difficult.
Because this disorder affects such a small number of people, the symptoms can be mistaken for fibrosis or malignancy. Biopsies will be performed as a result of the misdiagnosis, putting the individual in even more danger.
2. RPI deficiency
Ribose-5 phosphate isomerase deficiency, or RPI Deficiency, is the rarest disease in the world, according to the Journal of Molecular Medicine, with only one case in history documented by MRI and DNA analysis.
The patient in question first manifested with white matter illness, which was discovered on an MRI, in 1984, and was eventually diagnosed in 1999. To this day, the precise origin of the genetic pathway defect is unknown.
3. Alice In Wonderland Syndrome (AIWS)
AIWS was initially described in 1955 by Dr. John Todd, a British psychiatrist. Todd named it after Lewis Carroll’s famous classic, Alice in Wonderland, because the sickness is similar to what Alice went through.
The most visible and frequently most distressing symptom is altered body image, in which the individual is unsure of the size and shape of their body parts. The head and hands are the most commonly stated body parts; growth appears to be more common than shrinkage.
The distortion of visual perception is the second important symptom. The eyes are normal, but the sufferer sees objects that are the wrong size or form and/or has an erroneous perspective.
4. Fields Condition
When we talk about Fields Condition, a degenerative muscular ailment that affects two sisters (Kirstie and Catherine Fields) and can cause painful muscle spasms up to 100 times each day, we’re definitely getting into the nitty-gritty of the world’s rarest diseases.
Doctors are still baffled by the sickness, but it has immobilized both sisters and taken away their ability to talk, forcing them to rely on electronic voice machines to communicate.
5. Hutchinson-Gilford Progeria Syndrome (HGPS)
HGPS is a highly rare genetic condition with symptoms that resemble the onset of aging at a young age. One in every eight million live births is affected by HGPS, and people born with the illness often live into their mid-teens or early twenties.
This hereditary disorder causes a quick and severe onset of aging, commencing in youth. Prominent eyes, a thin beaky nose, thin lips, a tiny chin, and projecting ears are all characteristics of the face.
