10 MOST HORRIFYING AND RAREST DISORDERS EVER
Though you may not be able to see it outright, doesn’t mean it can’t do you harm. That is especially true when it comes to the world of diseases. For this installment, we’re traveling further than skin deep to look at ten rare diseases that are both horrifying and deadly. Some of this subject matter may not be for the faint of heart.
Fibrodysplasia Ossificans Progressiva
It’s not fun to say and it’s even far less fun to experience the detrimental symptoms of this deadly connective tissue disease, which is said to affect 1 in every 2 million people. Unlike xeroderma pigmentosum patients, who suffer from lack of reparative genes, FOP is a mutation of the ACVR1 gene that leads to overactive reparation of muscles, tendons, and ligaments. Instead of normally repairing damage done to joints and muscle, the tissue is ossified and turned to bone. As early as 10-years-old, FOP can begin ossification, often starting with the neck and working down. Individuals with FOP can survive into their 40’s and beyond, though quality of life is greatly diminished as their body becomes more and more covered in solid bone.
CJD affects approximately 1 in every 1 million people, but for those unfortunate few, it is incurable and terrifying. Known also as the human form of mad cow disease, CJD stems from prions and causes the degeneration of brain tissue. As brain tissue continues to deteriorate, the patient will start to suffer anxiety, depression, OCD, speech impairment, seizures, involuntary movements, hallucinations, and memory loss. Patients with CJD can survive anywhere from 6 months to 5 years from the first onset of symptoms, but as their life is prolonged, they lose more and more of themselves.
As if tumors weren’t terrifying on their own, the thought that even a benign tumor could result in the deadly autoimmune disorder paraneoplastic pemphigus is even more unnerving. The disease is quite rare, occurring in just over .01% of a sampling of 100,000 Hodgkin lymphoma and chronic lymphocytic leukemia patients. Paraneoplastic pemphigus is typically indicated by different types legions, which cause incredible and unbearable pain and can become septic and deadly. Patients with malignant tumors face a 90% mortality rate while benign tumors offer a glimmer of hope, though treatment has been moving from focusing on the wounds to focusing on the tumor itself in hopes of reducing the severity of the antigens.
Fatal Familial Insomnia
Any of the numerous people that suffer from insomnia will tell you it’s not fun. The considerable few that suffer from fatal familial insomnia will attest to just how horrifying their disease is. The hereditary FFI is so rare that it’s only been recorded in around 78 people, coming from 29 different families across the world. It is caused by a mutation in the prion protein CD230, which causes clumps of the protein to accumulate in the brain and destroy brain cells. Patients often go through four stages, which include increasing insomnia and paranoia, hallucinations, rapid weight loss, dementia, and death. While vitamin therapy, meditation, and certain stimulants showed to improve prognosis by nearly one year in one patient, once symptoms set in, death is often inevitable.
About 1 in 1 million people inherit this light sensitivity disease, and while sensitivity to ultraviolet light doesn’t sound so horrifying, XP can be deadly, claiming the lives of around 60% of those affected. The disease attacks genes related to nucleotide excision repair, which play a hefty part in the repairing of skin that may have been damaged by the sun. This means something as simple as a sunburn, which can develop after mere minutes in the sun, can easily turn into deadly skin disorders like skin cancer. XP sufferers are also prone to brain tumors. It’s also been reported that 30% of patients can develop hearing loss, poor coordination, and seizures.
Hutchinson-Gilford Progeria Syndrome
Imagine aging at a rapid rate in a matter similar to the 1996 film Jack, without the lighthearted silliness of Robin Williams to make it bearable. Now imagine, instead of physically growing into an adult, your growth is stunted, your facial characteristics thin out to a beaked nose, almost nonexistent lips, and a tiny chin and your skin, joints, and arteries take on characteristics of the elderly. If that doesn’t sound awful enough, your lifespan is diminished and you have a 90% chance of dying from a heart attack or stroke, possibly as early as your mid teens. HGPS is an extremely rare disease, occurring in an estimated 1 out of every 8 million births, but those it does touch face a cureless disease and a lifespan of generally 20 years.
Don’t let the fancy name fool you, Legionnaires’ is a deadly disease caused by strains of Legionella bacteria which can be found in cooling towers, hot springs, fountains, dental equipment, coolant, and ice-making machines. Legionnaires’ is a type of pneumonia that can lead to similar symptoms like muscle aches, loss of appetite and coordination, vomiting, diarrhea, coughing up blood, and confusion. Due to its similarities, symptoms alone cannot be used to diagnose Legionnaires’, but rather require testing of mucus, urine, or blood samples to pinpoint the bacteria. If caught early enough, antibiotics can cure Legionnaires’ disease, but fatality rates range from 5% to 50%, the higher percentage being attributed to bacteria acquired via a healthcare facility.
It’s quite rare to come across Kuru disease in the modern age, mostly because it was often linked to ritualistic cannibalism of deceased family members. Internal organs, specifically the brain of individuals with kuru are highly infectious, so those that dined on infected brain were likely to suffer from the incurable neurological disorder. Infected individuals develop headaches, joint pains, and limb shaking which, over the course of several years, can worsen to speech deterioration, loss of muscle control, instability, depression, and even bouts of laughter. Just prior to death, the affected become incontinent, cannot swallow, and unresponsive to their surroundings. From the first symptoms, which could take decades to show, the degeneration can take anywhere from 3 months to 2 years.
This neurodegenerative brain disorder is a transmissible spongiform encephalopathy or prion disease, that is believed to affect only 10 people per 100 million, most of which are likely within a family with GSS history. Symptoms of GSS start with the onset of dysarthria, or impaired speech, memory loss, involuntary eye movement, and lack of balance, leading eventually to progressive dementia. Currently, no cure is present for the degenerative disease, but treatments and medication are in place to aid in slowing down the effects. Average lifespan of patients suffering from GSS is approximately 6 years, making it the slowest progressing prion disease found in humans.
When the World Health Organization requires researchers to wear pressurized biohazard suits and go through a series of showers, vacuums, and ultraviolet light to handle a pathogen, you know it’s bad news. The Marburg virus, which causes Marburg virus disease, requires such handling. With symptoms very similar to the Ebola virus, the disease can be overlooked and mistreated, and with an average case fatality rate of 50% over the course of 12 different outbreaks, overlooking proper treatment can be deadly. Even if cured, though, the virus can reactivate, causing a secondary case of Marburg disease. Typically 8 to 16 days into incubation, patients can succumb to multiple organ dysfunction syndrome.