The worst disease: 4 extremely debilitating, rare & lethal candidates.
Every single day we are constantly bombarded with attacks from microscopic enemies.
And if we manage to fight them off, there’s still the possibility that we’ll get attacked from the inside, by our own genes.
Here are 4 genetic diseases that you probably don’t have and possibly never even heard of. But which do you think is the worst disease you can get?
Disease: Any deviation from or interuption of the normal structure or function of any body part, organ, or system. Manifested by a characteristic set of symptoms & signs & whose etiology, pathology, and prognosis may be known or unknown.
Worst Disease #1: Fatal Familial Insomnia (FFI)
This disease results in the complete loss of the ability to sleep, usually due to an inherited gene mutation, but sometimes occurs spontaneously (extremely rare).
Only 28 families worldwide (5 of which are in the United States) are known carriers of the FFI gene mutation and the initial mutation is believed to have originated out of Italy in 1765. There is a prominent family in Italy, who are most affected by this disease, and are in the process of coming up with a cure. But as of today, there is no hope once the symptoms of FFI appear.
The onset of Fatal Familia Insomnia’s begins between the ages of 35 and 60 and is usually mistaken as a bout of insomnia, but the victim is never able to get a full night’s rest again. Eventually it progresses from not getting good, or the right amount of sleep, to getting absolutely no sleep at all.
Worst Disease: the 4 Stages of FFI
Stage 1) Sudden onset of sleeplessness occurs, panic attacks and phobias, which typically lasts 4 months.
Stage 2) Experience continued lack of sleep, an inability to catch up for lost sleep, symptoms seen in first stage worsen and hallucinations usually begin and this stage lasts more than 5 months.
Stage 3) In this stage, weight loss occurs rapidly, diminished mental performance* and manifestation of total insomnia begins, this stage usually lasts 3 months.
Stage 4) Patient suffers dementia* and inability to respond, which lasts around 6 months until the patient dies due to total sleeplessness and progression into coma.
*Note: While the patient does experience diminished mental performance and eventually dementia and, unlike dementia alone [ Alzheimer’s], dementia associated with FFI occurs with the patient being fully aware of what he or she is undergoing. They are trapped in their own bodies; tired, confused and eventually unable to communicate.
You might be thinking something like, “Why not just give them a large sleeping pill,” which is what I first thought when I read about this disease. Unfortunately, neither sleeping pills nor any known medication show any positive effects against FFI. In fact, sedatives, such as sleeping pills, have proven to only exacerbate the disease. Vitamins also have no beneficial effects on the FFI.
In some cases, where a patient was given sleeping medications (in attempt to alleviate the symptoms of this disease) not only were they still unable to sleep, but medications actually sped up the disease. To read more about this “worst disease,” visit [opens new window] Fatal Familia Insomnia, or watch the report below. Sorry about the video quality.
Worst Disease: Fatal Familial Insomnia
Worst Disease #2
Trimethylaminuria (smell-like-rotting-fish disease)
Trimethylamine is an organic compound derived from a diet of eggs, liver, soybeans and peas.
When the body is unable to break down this compound, the result is an unimaginable stench flowing from the body.
The severely strong odor, from this second worst disease, is similar to the smell of rotting fish. Trimethylaminuria is a rare genetic disorder, but the exact prevalence is unknown and the good news is that it can be somewhat managed by a change in diet and taking low dose antibiotics.
The bad news is that while it may not be life-threatening, it can be debilitating and cause its victim to become a social recluse. It is known to induce severe anxiety and depression, for obvious reasons. Deodorant and any perfume/cologne only mix with the foul odors and essentially make Trimethylaminuria’s smell worse.
This disease was first described in 1970 and is typically more common in woman than men, but the reason for this is unknown. Trimethylaminuria is obviously not the worst disease you can get, because it isn’t lethal, but it’s still crazy/weird. To read more and for source information, click trimethylaminuria.
Worst Disease #3
Fibrodysplasia Ossificans Progressiva (FOP)
This forming of bone outside the skeleton constrains movement and the affected patient is essentially turned to stone.
This third worst disease is very rare, resulting in approximately 1 person in 2 million with FOP. The average age of death is 40 and is usually due to the inability to fully open the mouth (malnutrition).
Breathing difficulties because the lungs are unable to function normally (compressed by the ‘stoning’ process). The patient is usually faced with choosing, at an early age, between sitting, or standing for the rest of their life and, by the time of death, will only be able to move their lips.
The first symptoms are generally found in the shoulders, where tumor-like ‘bumps’ appear as knots under the skin. During early childhood a person with FOP is able to do what other kids their age can do, but when the child suffers a broken bone, or other strain on the skeletal structure, the body ‘over heals’ itself, causing stiffness and eventual loss of movement of the affected area.
The stiffness progresses as the person ages, moving from the shoulders down the body until all movement becomes almost impossible (as described above). Sadly, there is no treatment option and surgery is out of the question due to the usual formation of even more bone in those with FOP (after the surgery).
However, treatment options are currently being tested and studied, which will hopefully be able to control bone growth and return it to normal levels. To read more, click Fibrodysplasia Ossificans Progressiva. You can also watch the 4-minute video about FOP below.
Note: the picture (above, left) is that of Louise Wedderburn (age 16), who decided not to let this worst disease get her completely and was determined to attend her prom. Read more of Louise Wedderburn‘s story from telegraph.co.uk
Medical Incredible: Fibrodysplasia Ossificans Progressiva
Worst Disease #4
Progeria (Hutchinson-Guilford Syndrome)
With the child generally appearing normal at birth, but, by 12 months, signs and symptoms appear (such as hair loss and slow growth).
This disease is extremely rare and the prevalence is thought to be around 1 in 4-to-8 million. The average life expectancy is about 13-years-of-age for those with this worst disease and it is typically caused by a new mutation.
Inheriting the gene for Progeria is almost unheard of, due to the obvious fact that anyone with the disease rarely reaches adulthood.
The oldest known survivor was Leon Botha of South Africa (pictured below.) Botha died on June 5, 2011 at the age of 26 and was well known for being both an artist and a disc jockey.
The symptoms and results of Progeria are: slowed growth, cardiovascular disease, narrowed face and beaked nose, alopecia (hair loss), hardening and tightening of skin, disproportionally large head, thin lips, visible veins, prominent eyes, small lower jaw, high-pitched voice, delayed and abnormal tooth formation.
Most common treatments are taking low-dose aspirin and heart bypass surgery (both for cardiovascular disease) and growth hormone therapy has been attempted, but no positive results have been received.
This worst disease is not very well understood in the medical field, but scientists are hopeful that if they unlock the major components of this disease they might be able to learn more about the aging process.
Which means a higher probability of slowing, or stopping the natural process of aging, at least physically. Hopefully, they come up with a cure for this disease BEFORE they run off and attempt to produce some magical, anti-aging cream. To read more and for source information, click Hutchinson-Guilford progeria syndrome. You can also watch the heartbreaking, but inspirational video below.
Ashley Hegi Progeria
Which of these do you think should be considered as the “worst disease?” Since everyone seems so terrified about aging and dying, I would put my money on Progeria being the worst disease, but each of the diseases listed are terrifying in their own right.
Some may consider smelling like dead fish, for the rest of their life, to be a fate worse than death. But then there’s Progeria or FOP, both of which are eventually fatal and death isn’t all that great. Suddenly, smelling like a dead fish, and not actually being dead yourself, doesn’t sound so bad.
Featured Image (bacteria) credit: discovermagazine.com