Fatal Familial Insomnia is as rare and real and horrible as it is certainly and predictably deadly. There are less than 100 documented cases in the world, but one thing is known about the disorder: it is genetic, a disarrangement of a crucial brain protein, a mere kink in the chain that's powerful enough to shut off sleep function. And it runs through families like a sword.
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How odd it must seem, sudden and irreversible insomnia. You’ve always been so healthy.

And here you are, at mid-life, now in your 40s or early 50s, chugging along with your career and family, trying to eat right and exercise, to keep that all-important balance in life between work and play. And then you just stop sleeping. There is no cause, no trigger. You completely stop.

After a few days, you have irrational fears (who wouldn’t?), and old, buried childhood phobias come roaring back – fear of spiders, fear of the dark, fear of strangers. You’re taken to a doctor and told you have early-onset Alzheimer’s, or early-onset dementia, or early-onset Parkinson’s. They're never the correct diagnoses.

The fears mutate to vivid panic attacks and hallucinations. You stop eating. Your body shrinks. You can feel the blood roaring through your head as your blood pressure skyrockets, and you can’t make your feet or your hands do what you want them to do. You’re always sweating.

The doctors all tell you that you‘re mentally impaired, but you know better. You’re perfectly aware of everything that is happening to you. You just can’t say so, can’t make the words come together in the right order. You’re watching your body implode. You’re both inside and outside of your own body, your own self. And you still haven't slept, not for months.

You stop responding — to the doctors, to your loved ones, to the prick of the needle against your toe, to the press of another’s hand, to warm or cold air, to food, to water. The coma comes in stages. It seems like sleep at first. And perhaps, in a way, it is — a kind of sleep, finally. And then you’re gone.

***

The nightmare scenario above is, perversely, the opposite of a nightmare — it plays out while the sufferer is awake. Always, full-on awake. The disorder is called Fatal Familial Insomnia (FFI), and it is as rare and real and horrible as it is certainly and predictably deadly. There are less than 100 documented cases in the world, but one thing is known about the disorder: It is genetic, a disarrangement of a crucial brain protein, a mere kink in the chain but one powerful enough to shut off sleep function. And it runs through families like a sword.

According to a paper written by Dr. Pierluigi Gambetti in June 2015, FFI can only be confirmed by genetic testing and supporting (and complex) sleep studies. He also notes, in a single, haunting sentence in the paper's abstract, that “there is only supportive treatment for fatal insomnia.” In other words, once a diagnosis of FFI is confirmed — and other parallel and more common disorders have been ruled out — a waiting game between the patient and death begins — one that can last many months.

It is genetic, a disarrangement of a crucial brain protein, a mere kink in the chain but one powerful enough to shut off sleep function. And it runs through families like a sword.

According to a 2000 case study published in the Journal of Neurological and Neurosurgical Psychiatry, autopsy reports for members of a Spanish family who suffered from FFI (children of FFI victims have a strong chance of inheriting the disease) showed significant erosion of key neurological pathways.

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Their brains ate themselves, so to speak, replacing useful proteins and connective tissues with dead links — plaque-encrusted neurological cul-de-sacs. On the other hand, no two brains fell apart in exactly the same way, and patients within the family (aware that they could carry some mysterious ailment inherited from their mother) nevertheless showed frustratingly varied symptoms.

FFI is nothing if not sneaky, never manifesting in exactly the same way twice. For instance, some patients included in the 2000 case study — even close members within the particular family — displayed respiratory difficulties, while others did not. And various treatments, such as the administration of benzodiazepines, produce various results. But all treatments only ever aid the base-line, wait-it-out goal of prolonging life, not curing the disorder.

Their brains ate themselves, so to speak.

A sentence stands out from the case study: A 40-year-old patient was assessed as not having the cognitive capacity to participate in a formal psychiatric examination but “she smiled at familiar people and kept visual contact.” There is enough heartbreak in that half-sentence, that casual, shrugging aside, to fill a dozen scientific papers.

***

My own difficulties with insomnia, which I chronicled in my book “Bright Eyed: Insomnia and its Cultures,” give me both deep sympathy for FFI families and also a keen sense of how much worse my condition could be. A few days without proper or sufficient sleep are normal to me, but months and months on end? I can only imagine what I would want to do, what self-cure I would impose. This is dark territory.

I have had insomnia “bout” since I was 10 years old. Insomnia defines my life in hundreds of large and small ways — I have learned, at 51 now, to live with the problem instead of in constant defiance or in surrender to it. I take pills, like practically everybody else. My sleeplessness is compounded by Restless Leg Syndrome (RLS), a far more common but not well-understood neurological disorder. Essentially, whenever you attempt to rest, your body involuntarily shakes, seizes up and releases, twitches and thrashes about. It is maddening, and at times I have thought myself on the edge of a nervous breakdown because of it. Living on only two or three hours of sleep per day, for weeks on end, is my normal. But — and this is a crucial but — I do sleep, sporadically and unevenly, and with great difficulty, but I do sleep.

Living on only two or three hours of sleep per day for weeks on end is my normal. But, and this is a crucial but, I do sleep — sporadically and unevenly, and with great difficulty, but I do sleep.

FFI is the stuff of my worst fears. What if, I have wondered in the past, I never sleep again? How long will I live? Until I first learned about FFI, I wrote off these late-night panics as neurotic, morbid fantasies, the kind of overwrought things you think about when the rest of the world is snoring away. But FFI is real. I’m not sure I’m glad to know this disease exists. On the one hand, it makes me tell myself that I am doing just fine, at least in the greater order of sleep issues. On the other hand, now I have something new to worry about, and it has a name, a real name. A name and no cure.

***

By weird coincidence, I was recently the subject of an interview on the topic of insomnia for a new EU-based literary periodical called Versopolis. The retired Slovenian pediatric neurologist who interviewed me, Dr. Igor Ravnik, happens to be friends with the University of Bologna’s director of Neurology, Dr. Pietro Cortelli, one of the first doctors to start unpacking FFI back in the 1980s. Dr. Cortelli graciously agreed to answer my questions. Our exchange, recounted below, was brief but direct.

Have you treated patients with FFI?

I participated in the discovery of FFI and I was the resident following the first case in 1984, and then published in NRJM in the 1986. Since then I followed at least 12 FFI patients (I think I am to be the one in the world that followed the higher number of patients).

How rare is the disease?

I think now no more than 60 families in the world. Very rare!

Does the disease run in families in predictable patterns?

Being Autosomal Dominant means that 50 percent of children of an affected FFI patient will get the disease.

Is FFI properly called a disease or a genetic disorder?

FFI is a disease with a genetic explanation.

Is FFI always fatal?

YES

What are the treatment strategies?

Just symptomatic, trying to inhibit the sympathetic nervous system that keep the patient awake!

Is there a test for FFI genes?

YES

Dr. Cortelli’s short, no-nonsense answers speak volumes. We could attribute his responses to the fact that English is not his first language, or that he is a very busy man who has little time for journalists, or that, after three decades of talking about FFI, he is bored by the subject.

Or, knowing that there is no cure for FFI — only cold, observational documentation to be done — the good doctor has learned to mirror FFI’s succinct fatalism, just as his now-dead patients most likely did.

Fatal Familial Insomnia, like many “orphan” diseases (medical problems suffered by too few people to be profitable to drug companies, which fund research), will likely course through many more families before it is adequately treated, let alone cured. I wish I could be shocked and surprised by this truth, but knowing how poorly insomnia is attended to as a chronic health problem, I expect little else to be done for one of its more exotic, though lethal, presentations.

We don’t value sleep in our culture, even when lack of it kills us. In an always-alert time such as ours, when the ability to remain attentive at all hours is wildly overvalued, 24/7 living and working is arguably a kind of lurid mass performance of FFI; a global strain of the disease dragged out across lifetimes.

Some of us are just dying much, much faster.