The undiagnosed disease is connected to severe muscle pain and affects the heart, according to the user, who shared their story on Reddit
A 25-year-old Reddit user shared the worsening conditions of their undiagnosed neurological disorder, which they said impacts sleep to the point where they don't think they'll survive much longer
In a Reddit post with more than 11,000 upvotes, they noted it’s similar to Fatal Familial Insomnia, but shared that doctors haven't been able to diagnose the condition — apart from the fact that it stems from ongoing spinal issues
The user said they had given up hope — but comments and suggestions in the thread “motivated me” to find help
A 25-year-old with a rare, undiagnosed neurological disease that keeps them from sleeping shared, “I don’t know how long I have, but can’t see myself making it more than a year.“
In a post on Reddit’s popular AMA — Ask Me Anything — subreddit, user BPD-Recovery shared their journey with this undiagnosed disease, which they said they've been told is similar to Fatal Familial insomnia.
As the Cleveland Clinic explains, Fatal Familial insomnia “is a rare genetic condition that causes sleeping difficulties (insomnia), memory loss (dementia) and involuntary muscle twitching. This condition gets worse over time and it’s life-threatening.”
As BPD-Recovery shared, the issues all stem from their spine.
“I have had severe muscular pain since 16. Initially started like carpal tunnel. Muscles progressively get worse over time. In time, discovered all musc. Issues were coming from left shoulder,” the user wrote in the post, which had 11,000 upvotes and more than 1,600 comments.
“Now, I cannot breathe normally due to muscle tension," they continued. "My torso is now lightly twisted away from my problem side, My spine causes my sleeplessness. When my back was better, and I could release it, my sleep would immediately resume.”
The Redditor shared that two years ago, “my spine completely locked up, and I have not experienced normal sleep since.”
The user said that when they sleep, they will “Wake up. Extremely exhausted. Can barely move. Energy comes barely online around 3 p.m. Energy comes fully online around 7 p.m. Feel great then.”
Although they shared that their symptoms are similar to Fatal Familial Insomnia, they said “There is no name for my condition. I have progressively deteriorated over 2 years. It began with hallucinations, irritability, extreme mood swings, exhaustion, etc.”
“In the last 4 months it’s began affecting my heart," the user further noted. "My nervous system is f-----. I have severe dysautonomia, which means my heart and blood pressure go from super low to super high erratically. I’ve been in and out of emergency rooms for borderline heart attacks about 7 times in the past 3 months.”
They shared that they're struggling with cognition, saying “I have also had to bring ppl to talk to doctors because I was so delirious. I have been too tired to speak on hundreds of occasions.”
“I regularly zone out and stare at walls. I forget what I did 30 seconds prior. I literally microsleep while awake,” they shared. “I have strained pasta onto my countertop, hit a parked car in my driveway, called people the wrong names, forgot basic words, said 'oh hey don’t do xyz' as I was doing it.”
Although the Redditor noted that “gabapentin (a neurosuppresant) helps marginally,” they admitted that “I am f------ terrified of dying. The cardiac issues are recent and I think I’m on my last leg.”
The thread was full of commenters who suggested new treatment options — from calling specialists to trying new therapies— which may have given the user hope.
“I kind of gave up due to extreme despair from years of medical gaslighting/not getting anywhere," the Redditor noted, adding, "This thread has motivated me. I called Mayo Clinic and a few places today.”
https://people.com/25-year-old-with-neurological-disease-doesnt-sleep-reddit-post-8691686
Khan Z, Sankari A, Bollu PC. Fatal Familial Insomnia. 2024 Feb 25. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 29489284.
Excerpt
Fatal familial insomnia (FFI) is a very rare and fatal inherited neurodegenerative prion disease. The mode of inheritance of this disease is autosomal dominant and involves a mutation of the prion protein (PRNP) gene, leading to atrophy in the thalamic nucleus. Aggressively progressive insomnia, with subsequent autonomic (eg, tachycardia, hyperhidrosis, hypertension), cognitive (eg, short-term memory and attentional deficits), motor system (eg, balance problems), and endocrine dysfunction are hallmarks of the disease. The disease is currently incurable and has a mean course of 18 months, ultimately leading to death.
The earliest description of the disease dates back to 1765, with a report of an Italian man with symptoms suggestive of FFI. The disease was formally identified and clinically described in 1986 by Lugaresi E et al, followed by subsequent studies further describing its pathophysiology, etiology, and clinical course. A detailed history and neurological examination are of paramount importance as fatal familial insomnia is primarily a clinical diagnosis. Treatment is centered mainly on symptomatic relief and palliative care, as there is no cure for FFI.
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