February 28 is “Rare Disease Day”
Rare diseases haven’t received attention since they always affect a few people. What makes a disease rare and prevalent — the individuals living with it. In the United States, a rare disease is one that fewer than 200,000 people live with.
A rare disease is often genetic; 72% of rare diseases analyzed by researchers in a 2019 paper published in the European Journal of Human Genetics were found to have a genetic origin. Other rare diseases could be an infection or allergy. In many cases, the reason is always unknown.
Fatal Familial Insomnia
When a protein called prion causes normal brain proteins to fold abnormally, affected individuals may develop a prion disease such as fatal familial insomnia, which affects the PRNP gene. The FFI is the result of the changes in thalamus. The thalamus is the part of the brain that regulates sleep and consciousness, motor control, and many bodily functions. The disease causes insomnia, weight loss, increased or decreased body temperature, and rapid dementia. It only requires one gene from the parent and the individual can die within 12 to 18 months of the first symptom.
Progeria
At birth, children born with progeria look healthy but symptoms will begin to appear by the time they turn two. This genetic condition causes children to exhibit the signs of aging at an accelerated rate. They experience growth failures, loss of body fat, and exhibit the signs of aging found in older adults. People with progeria also experience hardening of the arteries, strokes, and cardiovascular diseases. People who are diagnosed with the disease will only live until they are fourteen years old.
Aarskog Syndrome
Short stature with limb, facial, and genital abnormalities characterize a rare genetic condition called Aarskog syndrome. This disorder affects more males than females and sometimes impairs intellectual capabilities. Twenty percent of people with Aarskog syndrome have a mutation with the FGDI gene, but the cause in others is unknown.
Symptoms can vary from person to person: drooping eyelids, an underdeveloped upper jawbone, fleshy earlobes, a prominent widow’s peak, and a delayed tooth eruption.
Gitelman Syndrome
Unlike many rare diseases, the disease may not appear until the second decade in life. Two mutated genes, one from each parent, cause the disorder. This syndrome is often compared to Bartter’s syndrome, damages to the kidney can lead to the progressing renal condition. The disorder causes an inability to absorb salt, forcing changes in the electrolytes, and the fluids outside the cells, and leading to dehydration. Individuals may frequent urination or large amounts of pee. Additionally, heart palpitations, fainting, and salt cravings.
Clinical Vampirism
Clinical Vampirism, also known as Renfield’s syndrome. This is a rare disorder or disease that is related to the obsession of drinking blood. The earliest presentation of clinical vampirism in psychiatric literature was a psychoanalytic interpretation of two cases. The authors Richard L. Vanden Bergh and John F. Kelley points out brief and sporadic reports of blood drinking behavior associated with pleasure. Many medical publications concerning clinical vampirism can be found in the literature of forensic psychiatry. This behavior is reported as an aspect of extraordinary violent crimes.
