Suppose you were suddenly unable to go to sleep. No, not a few nights of sleeplessness here and there or even the chronic sleep deficit that most of us in the contemporary world have grown to accept as usual.
Instead, picture what it’s like to be entirely unable to fall asleep at any time, to remain up constantly for months on end with no hope of ever falling asleep.
The whole idea is terrifying and perhaps even implausible. However, it turns out that certain people might be born with a genetic disorder that makes sleep impossible for them. Fatal familial insomnia is a rare condition that causes early death if contracted.
Fatal insomnia is not related to the more prevalent sleep condition of insomnia, although sharing a similar name. However, knowing the specifics of fatal insomnia, including its symptoms, causes, and treatment, will help you better grasp this rare condition and its differences from more common sleep issues.
The sleep disorder known as fatal insomnia is a kind of prion disease. When improperly formed proteins accumulate in the brain, as in prion illnesses, brain tissue is destroyed. Prion disorders are neurodegenerative conditions characterized by a wide range of symptoms and, ultimately, death caused by the destruction of nerve cells.
Every year, only around a million people get a prion illness, making them highly uncommon. Each year, there are around 350 new cases of prion disease in the United States. Fatal insomnia is much less common among prion illnesses.
Typically, middle-aged individuals are struck by fatal insomnia. On average, fatal insomnia causes death 18 months after the onset of symptoms, and the condition cannot be treated.
Fatal familial insomnia and sporadic deadly insomnia are the two forms of fatal insomnia. Their causes, symptoms, and expected results are similar yet slightly different.
Fatal Familial Insomnia
The hereditary kind of fatal insomnia is fatal familial insomnia (FFI). This implies that specific gene alterations linked to FFI are inherited from generation to generation. These mutations create proteins with unusual shapes that affect the brain and are linked to prion illnesses other than FFI.
It is pretty rare to encounter FFI. Only about 70 families worldwide have been confirmed to carry the genetic mutation that triggers FFI.
Sporadic Fatal Insomnia
Sporadic fatal insomnia (sFI) results from the spontaneous transformation of normal prion proteins into abnormally structured proteins. Neither a family history nor a genetic basis exists. But sFI fundamentally shares FFI’s signs and consequences.
SFI is even more uncommon than FFI. For example, only 25 documented instances of sFi were reported by research as of 2018.
Symptoms of Fatal Insomnia
Sleep disruptions, alterations in mood or behavior, abnormal bodily processes, and a loss of physical power are all signs of fatal insomnia. Most persons who have fatal insomnia also lose weight.
Among the sleep problems brought on by fatal insomnia are:
- Insomnia: Having trouble sleeping or staying asleep during the night is known as insomnia. As fatal insomnia worsens, this symptom intensifies.
- Lucid or vivid dreams: A person with fatal insomnia may have highly vivid dreams where they are aware that they are dreaming.
- Wakeful dreaming and dream enactment: People with fatal insomnia may abruptly enter a dream-like phase while awake due to inadequate sleep. They could even perform their dreams.
- Reduced deep sleep: Deep sleep, also known as stage 3 sleep or slow wave sleep, is essential for feeling rested each day. Slow-wave sleep declines or ends as fatal insomnia worsens, and distinct sleep cycles may blend.
- Reduced sleep duration and daytime sleepiness: As the illness progresses, a person spends significantly less time sleeping overall. The result of this absence of sleep is frequent afternoon drowsiness.
Typical attitude and behavioral changes in people with fatal insomnia include:
- Paranoia, phobias, or hallucinations
- Loss of short-term memory
- Panic attacks
- Poor concentration
Nevertheless, most people with fatal insomnia continue to function cognitively throughout most of the illness. However rarely, Dementia can occur only in the latter stages of fatal insomnia.
Fatal insomnia also affects the autonomic nervous system, which controls involuntary body activities. In turn, these signs may appear:
- Excessive sweating
- Intense crying
- Occurrences of rapid breathing
- Unusual elevation of body temperature
- Rapid pulse
- Increased blood pressure
- Sexual dysfunction
As fatal insomnia worsens, muscles tend to weaken, leading to symptoms like:
- Swallowing problems
- Persistent twitching of the muscles
- Reduced muscular tone
- Lack of coordination in the muscles
- Body tremors, limb stiffness, and slow motion
- Speaking difficulties
Stages of Fatal Insomnia
Insomnia is often the first sign of fatal familial insomnia, which worsens over time. The entire course, from the start of symptoms to death, typically takes around 18 months on average. However, it can be as short as seven months or as long as 73 months.
On average, sporadic fatal insomnia takes 30 months to progress from the onset of symptoms to the patient’s demise.
Professionals have identified four phases of fatal familial insomnia. However, researchers are split on whether persons with sporadic fatal insomnia go through the same stages.
Due to the rarity of sporadic fatal insomnia, additional study is likely required to determine the parallels and differences between the two conditions.
The following are the phases of fatal insomnia in the family:
- Phase 1 (lasting three to six months): This phase of fatal insomnia involves the onset and progressive worsening of sleeplessness. Inspiring dreams might happen while you sleep. Psychological symptoms like panic attacks and paranoia might emerge.
- Phase 2 (lasting five to nine months): Mood swings develop or intensify, and anxiety or sadness could set in. Heart rate, hypertension, body temperature, perspiration, respiration, and the release of stress hormones all occur when nervous system failure sets in. You may have trouble moving, or your walking pattern could change.
- Phase 3 (lasting three months): Substantial disruption of the normal sleep-wake cycle. You have a hard time falling asleep.
- Phase 4 (lasting up to six months): Dementia, difficulty communicating, and ultimately a coma and death due to lack of sleep.
The duration of each stage of fatal insomnia fluctuates among people. For example, sick time might vary from 8 months to 72 months. On average, however, the condition advances over 18 months.
Causes of Fatal Insomnia
The kind of disease will determine the cause of fatal insomnia. In contrast to sporadic fatal insomnia, which has no known reason or hereditary connection, fatal familial insomnia is inherited genetically.
Two distinct forms of fatal insomnia have been linked to prion disorders. The aberrant production of a prion protein lies at the root of several illnesses. The brain is rich in prion proteins. The protective role of normal prion proteins for brain cells is just one of several hypotheses by researchers.
However, prion proteins assume an aberrant structure in fatal insomnia and other prion illnesses. Furthermore, long-term accumulation of these unusual proteins is associated with nerve cell injury and the development of microscopic holes in the brain.
Transmission of a mutated PRNP gene is the underlying cause of inherited FFI. Incorrect instructions from the mutant PRNP gene are used to manufacture prion proteins, which results in proteins with an altered 3D structure in the body. A variety of PRNP gene mutations influence the expression of these harmful proteins.
The FFI-causing PRNP gene mutation is usually inherited from only one parent. Nonetheless, a gene mutation occasionally happens in the gametes (egg and sperm). Therefore, alterations to the PRNP gene can also occur during embryonic development. If this happens, the mutated gene might be handed on to the next generation.
People with sFI do not have a family history of fatal insomnia, and the condition is not hereditary. Instead, prion proteins transform into aberrant proteins on their own. This modification’s cause is unknown. There are very few instances of sFI.
Diagnosis of Fatal Insomnia
As a first step in diagnosing FFI, your doctor may urge you to keep a sleep diary detailing when, how long, and how you sleep. In addition, you may be required to participate in a sleep study.
This requires you to spend the night in a hospital or sleep center, where your doctor will monitor your vital signs while you rest. Sleep disorders, including sleep apnea and narcolepsy, may be ruled out after it is complete.
A PET scan could be done next. Again, you can improve your doctor’s understanding of your thalamic health with this imaging exam.
A diagnosis can be made with more certainty with genetic testing. However, in the United States, this is only possible if you can prove that someone in your family has FFI or if another test has pointed to the possibility of FFI.
Prenatal genetic testing is also available to women with a family FFI disease history.
Treatment Options for Fatal Insomnia
Experts have not yet discovered the remedy for fatal insomnia. Therefore, currently, therapies are categorized as palliative care, which indicates that they are aimed at relieving the suffering of those afflicted with this illness in the last few months of their life.
Fatal Insomnia And Palliative Care
The disease’s course cannot be slowed down or treated, and there is no known treatment for fatal insomnia. Therefore, palliative care, which aims to increase comfort and lessen symptoms, is therapy’s primary emphasis.
Comfort care can improve the quality of life, although it does not cure the condition. It may be suggested that patients cease using drugs that worsen other symptoms, such as disorientation or sleeplessness, or induce insomnia.
A feeding tube may be recommended for those with severe insomnia who have trouble swallowing.
The palliative care process may benefit from counseling for the fatally insomniac patient and their family. In addition, by providing excellent end-of-life care, hospice care may help the patient with the condition and their family.
No medicines have been shown effective in treating fatal insomnia. Research has been conducted on a wide variety of medications. The results, however, have been inconclusive.
Familial fatal insomnia is a terrible disorder. It can result in death and make the years after a diagnosis challenging for the affected individual and their loved ones.
Getting competent emotional and psychological assistance is vital if you or a loved one has been diagnosed with fatal familial insomnia.
Make an appointment with your doctor to discuss your interest in clinical trials and to learn more about the ones currently enrolling participants. Government sites, patient support networks, and academic institutions are other good places to look for details about upcoming studies.