I always assumed that the many sleepless nights I went through over a period of nearly 10 years was as bad as it could get.
I’d feel tired and lethargic pretty much every single day, barely able to concentrate, or hold an intelligent conversation (or any type of conversation for that matter), and I was solely focused on when I could literally collapse into bed that night.
However, and I’m sure my story is a familiar one, by the time my head hit the pillow I was wide awake, my mind was racing with millions of inconsequential thoughts, and I found myself clock watching as the hours passed by.
Surely it couldn’t get worse.
Well, so you would think. During my many years of research into insomnia and various other sleep disorders, one day I came across fatal familial insomnia.
Even the name sent chills down my spine. But I had to know more. Today, I’ll share with you my findings.
What is Fatal Familial Insomnia?
I think the best way to describe fatal familial insomnia (FFI) is as an extremely rare sleep disorder that is tied to your family history, i.e. it is genetic.
FFI affects the thalamus, which is the part of the brain that controls various factors, including sleep. The disorder first rears its ugly head in the form of insomnia and causes a person to have extreme difficulties in sleeping.
The issues with sleeping start out very gradually and then worsen over time. The other symptoms of FFI include coordination and speech problems, and dementia.
As the name suggests (and what first drew me into wanting to find out more), eventually this condition results in death. In most cases, death will occur within a year or two of the initial symptoms starting.
The initial phase typically lasts for up to 4 months and a person will suffer from increasing bouts of insomnia, which will result in paranoia, phobias, and panic attacks.
The panic attacks will increase and become far more noticeable and these are accompanied by hallucinations. This phase of FFI can last for up to 5 months.
A person will by this stage be completely unable to sleep and will begin to lose weight fairly rapidly. You can expect this phase to last for up to 3 months.
The final phase of FFI will run over the course of 6 months. This is generally when dementia sets in and a person’s condition will deteriorate, being mute and unresponsive until death finally follows.
FFI is one of the prion diseases, a family of rare neurological conditions, which affects both humans and animals, and causes the brain to lose nerve cells. The most well-known human form of prion disease is Creutzfeldt-Jakob disease (CJD).
Prion disease in animals became famous worldwide in the 1980s and 1990s with the outbreak of mad cow disease (bovine spongiform encephalopathy or BSE) in the United Kingdom.
The disease saw over 4 millions cows slaughtered in order to control the outbreak of the disease. 177 people died from variant Creutzfeldt-Jakob disease (vCJD) after this was contracted by eating infected beef.
Is This The Most Famous Case of Fatal Familial Insomnia?
Let’s take a step back in time to the early-1980s.
A man simply known as Silvano was on board a cruise ship and was enjoying himself on the ship’s dance floor one evening.
This suave and elegant looking Italian gentleman was suddenly overcome with embarrassment as he noticed that his shirt had become drenched in sweat.
Silvano became extremely concerned and had to immediately check something. As he stared at his own reflection in a mirror he was greeted by two tiny black pin pricks that were his pupils.
He instantly recognized the familiar glassy-eyed stare that had accounted for his father and two sisters. He knew that this was just the beginning of this mysterious illness that had claimed so many members of his family.
Silvano knew what was to come – the total abandonment of sleep, terrifying hallucinations, the tremors, the constipation, the impotence, the loss of mind and speech, and finally of course death.
Eventually Silvano referred himself to the University of Bologna. He knew they had a famous sleep unit, and he had to attend for further study into his family’s fatal condition. Even though he already knew his own destiny, he wanted to do something for the current and future generations of his family.
Pietro Cortelli, one of Silvano’s Doctors, was astounded when Silvano first told him, “I’ll stop sleeping, and within a matter of months, I’ll be dead,”
Dr. Cortelli asked Silvano how he could be so sure of his fate, and Silvano literally reeled off name-after-name from his family tree, dating back to the 18th century.
All his ancestors had perished in exactly the same way.
Less than 2 years later Silvano passed away, as he had predicted, but left his brain to medical science.
He hoped that in some way this would shed some light on this awful affliction that had plagued his family for generations, ever since the first recorded case of death by fatal familial insomnia in Venice in 1765.
Silvano’s family remained silent about their struggles with FFI until the turn of the 21st century. They eventually opened up about their family history to journalist and author D.T. Max.
Max set about researching the family’s history with FFI and followed on from the case of the Venetian Doctor in 1765.
His nephew, Giuseppe was the next case and struck down by complete physical and mental incapacity until he died.
Giuseppe’s sons, Angelo and Vincenzo suffered the same fate, as did their children and great-grandchildren, until ultimately Pietro (Silvano’s father) died from the condition in World War Two.
Max wrote the absolutely fascinating book, The Family Who Couldn’t Sleep, which unravels the story of a family living in fear from their own genetic timeline.
I mean, can you possibly imagine what it feels like to know, from the day you were born, that one day your genes may cause horrific insomnia and then death?
As a parent with FFI, you have a 50% chance of passing it on to your child.
Those are not odds that you’re likely to ignore.
What Are The Symptoms of Fatal Familial Insomnia?
I’ve mentioned a few of the symptoms of FFI above, but let’s list them in their entirety.
I think this will give you an idea of just how scary this condition is.
I will say that the symptoms may vary from person to person, so there isn’t exactly a one-size-fits-all.
The condition typically first appears between the ages of 32-62, although there have been cases of people suffering their first symptoms at both an earlier and later age.
A person in the early stages of fatal familial insomnia will usually display the following symptoms:
- Trouble falling or staying asleep, which are also usually the first signs of a less genetically lethal form of insomnia.
- A person will generally have spasms, twitching and stiffness of the muscles.
- While they are able to sleep, there will be periodic limb movements, including kicking, which will usually wake you up.
- A severe loss of appetite, which explains the rapid weight loss.
- Plus dementia will progress at an alarmingly swift rate.
As FFI becomes more advanced a person will show additional symptoms:
- A complete inability to sleep.
- A loss of mental function, coordination, and severely deteriorating cognitive abilities.
- The heart rate and blood pressure will dramatically increase.
- Excessive sweating and fever.
- Difficulties in swallowing and speaking.
- Further weight loss that simply cannot be explained.
Diagnosis of FFI
Well clearly if you think that there is a possibility that you have FFI you should immediately consult with your Doctor.
The next step will be a sleep study conducted either at a sleep center or in hospital.
The study is aimed at recording certain body functions and data about your heart rate and brain activity is an extremely important aspect. This will also help to ascertain (or rule out) whether other sleep disorders, such as sleep apnea or narcolepsy, are the cause of your issues.
As FFI is mainly concerned with the thalamus, and how it functions, you may then be required to undergo a PET scan.
A diagnosis can also be confirmed via genetic testing, although there are certain constraints in the United States.
You are required to have a family history of fatal familial insomnia in order to be tested, and prenatal genetic testing is available if there is a confirmed case of FFI in your family.
I don’t wish to scaremonger or cause any further concerns around FFI, but it’s probably best that you know the following.
There is actually an even rarer version known as sporadic fatal insomnia. Despite the amount of research that has gone into this variant there is very little known about it, except that it is potentially not genetic.
However, as of 2016 there have only ever been 24 documented cases of sporadic fatal insomnia.
Is There A Cure For Fatal Familial Insomnia?
Unfortunately, there is currently no known cure for FFI or any course of treatment that may slow down the disease’s progression.
Not exactly great news.
The main source of treatments for FFI concentrate on trying to effectively manage the symptoms. This may include certain sleep medications, although these are seen as only a temporary fix, and they definitely won’t work in the long-term.
Researchers to this day are looking into various preventive measures and effective treatments.
A study conducted on animals in 2016 suggested that immunotherapy could help to treat FFI, but further studies, including on humans, are definitely needed.
There is currently an ongoing human study, which started in March 2015. The 10 participants in the study, aged between 42 and 52 years old are all at a genetic risk of developing fatal familial insomnia. They were specifically recruited because they fall into the “risk age”.
They have agreed to be treated with the antibiotic, doxycycline, over a period of 10 years.The study’s researchers believe that this may be an effective way to prevent the onset of FFI in those who carry the genetic mutation that causes the condition.
I’d also like to highlight another rather interesting attempt at curing FFI.
Who Was DH?
There was the case of a man simply known as “DH” (this is the only way he is referred to in all medical literature on the subject).
His father and three other family members had already died, when 52 year old DH contracted FFI. He held a doctorate, was a great believer in natural and alternative medicine, and he had a fierce will to live.
His first attempt saw him consume a cocktail of vitamins including, brewer’s yeast, melatonin, niacin and tryptophan. And for 5 whole months he was able to sleep 5-6 hours every night, until this concoction stopped working for him.
Following on from this, let’s just say that DH wanted to try something a little more aggressive – a mixture of various sleep medications, chloroform, nitrous oxide, and ketamine (Do Not Try This At Home).
This worked intermittently, but that didn’t last. So, he eventually turned to stimulants to make his waking hours a little more alert and refreshed instead, and once the effects of the drugs wore off he was able to sleep for a few hours.
However, over time DH’s health deteriorated, probably due to a mixture of the condition and the narcotics he was pumping into his body.
He still managed to tour the country in a motor home and write a book, but he eventually died of a heart attack.
It can be a number of years before the symptoms of FFI first appear. However, as we are now aware, once the symptoms start, a person is probably looking at between 12-18 until they die. DH somehow lived for a further 26 months after his initial diagnosis.
The research into doxycycline and a treatment in general for FFI still continues and I guess only time will tell.
Possibly not the most politically-correct thing to say, but my research into fatal familial insomnia certainly made me feel a little better about my own problems with sleepless nights and the eventual cure I found for my “normal” insomnia.
This terrible affliction has literally cursed many families for over 250 years and we are still no closer to finding a cure.
The symptoms are pretty frightful in their own right, but to be guaranteed to die within just a few short months once you have been diagnosed with FFI is truly horrific.