In 2015, after further testing, Twinam, now 44, was found to carry a genetic cancer disorder, Li-Fraumeni syndrome. A second breast cancer diagnosis shortly followed, and Twinam underwent another mastectomy. But Twinam knew that something else was wrong.
…
Hwang brought Twinam to Bethesda in 2017. During a battery of tests, a curious result popped up. Twinam’s calf muscle took a long time to replenish an energy-carrying molecule after a short exercise session. In other patients with Li-Fraumeni syndrome, this molecule regenerates in an average of 35 seconds. In Twinam, it took 80 seconds.
…
Hwang began a detailed biochemical search. He found that skin cells taken from Twinam appeared to be churning out an excess of a protein called WASF3. Zooming inside Twinam’s mitochondria, Hwang and colleagues eventually saw something stunning: Like a stick jammed into bicycle spokes, the overabundant protein was literally gumming up the gears of energy production.
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Extensive lab work confirmed and extended the finding. In dishes of cells, amping up WASF3 turned down cellular energy production. Tamping it down led to more energy. Mice bred to make too much of the protein pooped out quickly, like Twinam does, and will walk on a treadmill about half as long as normal mice.
A final serendipity broadened Hwang’s research from a single patient to an entire population of sick people: He obtained muscle tissue from Walitt’s ME/CFS patients.
Nine out of 14 had similar overabundance of WASF3 as Twinam, and, on average, the group’s levels of this protein were higher than that of healthy volunteers. Although the sample size is small, the finding suggests that this energy-squashing problem is widespread in ME/CFS.
The research triggered by Twinam culminated in August with a publication from Hwang and colleagues in the journal PNAS. Scientists in the small field of ME/CFS research are excited by the discovery, which points to a potential — and badly needed — treatment strategy.
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For Hwang, developing a treatment for the illness is now “what keeps me going.” His small laboratory, just four scientists, is planning a clinical trial with a drug that recently came onto the market for another disease.
Meta comment: the fatigue.chronic tag is incorrect - this is about chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME). Chronic fatigue is a symptom seen in many conditions. CFS/ME is a...
Meta comment: the fatigue.chronic tag is incorrect - this is about chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME). Chronic fatigue is a symptom seen in many conditions. CFS/ME is a specific thing, and it involves post-exertional malaise (PEM)/post-exertional symptom exacerbation (PESE), which is particularly relevant to this study showing prolonged recovery times after exertion.
Slightly unrelated, but for anyone out there that deals with daily, unrelenting fatigue, who is yet to find a solution - don't dismiss the possibility of sleep apnea or narcolepsy. Regarding...
Slightly unrelated, but for anyone out there that deals with daily, unrelenting fatigue, who is yet to find a solution - don't dismiss the possibility of sleep apnea or narcolepsy.
Regarding narcolepsy: it's a very misunderstood neurological disorder, in part due to inaccurate portrayals in media/television. The hallmark of narcolepsy is excessive daytime sleepiness, hence the stereotype of people falling asleep at random times - they literally can not stay awake because they are so tired. Look up the difference between "sleepiness" and "fatigue"; using the correct terminology with your doctor can have a huge impact. Narcolepsy can be tested for with an overnight sleep study + MSLT (multiple sleep latency test). Medication is available and it can be helpful. For those who appear with narcolepsy symptoms but don't meet a diagnosis of narcolepsy after an MSLT, often will be diagnosed with "idiopathic hypersomnia"; there are treatments available for that as well. A sleep medicine specialist (yes, this is an actual medical doctor with additional training in sleep medicine) - particularly one with experience in treating narcolepsy - is a good starting point if you suspect.
Sleep apnea is a common cause of fatigue. P.S. You do not need to be male or overweight to suffer from this. Sleep apnea runs in my family, and every member of my immediate family has it (including my mother and sister), despite we are all very thin. My mother's pulmonologist informed her that our narrow jaw and necklines is likely the cause. Sleep apnea can be tested these days with a simple at-home kit. In leu of that, an overnight sleep study can be done. If your doctor prescribes the at-home sleep study kit, make sure to read all instructions thoroughly; I mention because some of these tests can be easily invalidated by simple mistakes (such as taking the finger probe off once you've stuck it on), and you and your doctor would not know - the result would just come back negative. Hopefully one day there will be more accurate detection of invalid results.
Aside from sudden or excess daytime sleepiness, here are some other potential side effects of narcolepsy: Poor control of focus. (Some researchers believe that many ADHD cases are actually...
Aside from sudden or excess daytime sleepiness, here are some other potential side effects of narcolepsy:
Poor control of focus. (Some researchers believe that many ADHD cases are actually undiagnosed narcolepsy.)
Forgetfulness.
Lucid dreaming.
Sleep paralysis.
Hallucinations while falling asleep or waking up.
Sleep walking, sleep talking, or other odd behavior during sleep.
Thank you very much for sharing this. I wish narcolepsy was better understood, because I bet it would cause more people to get diagnosed and find help. It can be such a debilitating disorder, and...
Thank you very much for sharing this. I wish narcolepsy was better understood, because I bet it would cause more people to get diagnosed and find help. It can be such a debilitating disorder, and help is available.
To add to this list, approx. 20% of folks with narcolepsy deal with cataplexy: "a sudden and transient episode of muscle weakness accompanied by full conscious awareness, typically triggered by emotions such as laughing, crying, or terror." To expand (just quoting from the wiki page): Cataplexy manifests itself as muscular weakness which may range from a barely perceptible slackening of the facial muscles to complete muscle paralysis with postural collapse.
I also want to add to this list (just to prevent any possible misunderstanding for people that might read it) that lucid dreaming is not terribly uncommon, and about 8% of the population will experience sleep paralysis in their life; experiencing these does not mean a person has narcolepsy. But indeed, they appear to be far more common among folks with narcolepsy. Here's a very small study (there were only 53 narcolepsy patients); approx 77% of the patients with narcolepsy were frequent lucid dreamers. I wish I could find some studies about the prevalence of sleep paralysis among people with narcolepsy.
Sleep disturbances (including excessive daytime sleepiness) have also been noted as more common in people with ADHD too, making this a tough one to separate out. I've read some speculation that...
(Some researchers believe that many ADHD cases are actually undiagnosed narcolepsy.)
Sleep disturbances (including excessive daytime sleepiness) have also been noted as more common in people with ADHD too, making this a tough one to separate out. I've read some speculation that the two disorders may be pretty similar under the hood.
Is stimulant medication during the day also a treatment for narcolepsy? Honestly one of the biggest reasons I take my ADHD medication even on days off is because of the excessive daytime sleepiness when I don't.
From the article:
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Well. I sincerely hope they succeed, and I sincerely hope I have this problem because I'm tired of being tired.
Meta comment: the fatigue.chronic tag is incorrect - this is about chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME). Chronic fatigue is a symptom seen in many conditions. CFS/ME is a specific thing, and it involves post-exertional malaise (PEM)/post-exertional symptom exacerbation (PESE), which is particularly relevant to this study showing prolonged recovery times after exertion.
Looking at the existing tags, I guess we're writing this out without abbreviations? @mycketforvirrad
I try to avoid abbreviations/acronyms in the tags wherever I can, unless they're for something so universal like
nasa.Slightly unrelated, but for anyone out there that deals with daily, unrelenting fatigue, who is yet to find a solution - don't dismiss the possibility of sleep apnea or narcolepsy.
Regarding narcolepsy: it's a very misunderstood neurological disorder, in part due to inaccurate portrayals in media/television. The hallmark of narcolepsy is excessive daytime sleepiness, hence the stereotype of people falling asleep at random times - they literally can not stay awake because they are so tired. Look up the difference between "sleepiness" and "fatigue"; using the correct terminology with your doctor can have a huge impact. Narcolepsy can be tested for with an overnight sleep study + MSLT (multiple sleep latency test). Medication is available and it can be helpful. For those who appear with narcolepsy symptoms but don't meet a diagnosis of narcolepsy after an MSLT, often will be diagnosed with "idiopathic hypersomnia"; there are treatments available for that as well. A sleep medicine specialist (yes, this is an actual medical doctor with additional training in sleep medicine) - particularly one with experience in treating narcolepsy - is a good starting point if you suspect.
Sleep apnea is a common cause of fatigue. P.S. You do not need to be male or overweight to suffer from this. Sleep apnea runs in my family, and every member of my immediate family has it (including my mother and sister), despite we are all very thin. My mother's pulmonologist informed her that our narrow jaw and necklines is likely the cause. Sleep apnea can be tested these days with a simple at-home kit. In leu of that, an overnight sleep study can be done. If your doctor prescribes the at-home sleep study kit, make sure to read all instructions thoroughly; I mention because some of these tests can be easily invalidated by simple mistakes (such as taking the finger probe off once you've stuck it on), and you and your doctor would not know - the result would just come back negative. Hopefully one day there will be more accurate detection of invalid results.
Aside from sudden or excess daytime sleepiness, here are some other potential side effects of narcolepsy:
Thank you very much for sharing this. I wish narcolepsy was better understood, because I bet it would cause more people to get diagnosed and find help. It can be such a debilitating disorder, and help is available.
To add to this list, approx. 20% of folks with narcolepsy deal with cataplexy: "a sudden and transient episode of muscle weakness accompanied by full conscious awareness, typically triggered by emotions such as laughing, crying, or terror." To expand (just quoting from the wiki page): Cataplexy manifests itself as muscular weakness which may range from a barely perceptible slackening of the facial muscles to complete muscle paralysis with postural collapse.
I also want to add to this list (just to prevent any possible misunderstanding for people that might read it) that lucid dreaming is not terribly uncommon, and about 8% of the population will experience sleep paralysis in their life; experiencing these does not mean a person has narcolepsy. But indeed, they appear to be far more common among folks with narcolepsy. Here's a very small study (there were only 53 narcolepsy patients); approx 77% of the patients with narcolepsy were frequent lucid dreamers. I wish I could find some studies about the prevalence of sleep paralysis among people with narcolepsy.
Sleep disturbances (including excessive daytime sleepiness) have also been noted as more common in people with ADHD too, making this a tough one to separate out. I've read some speculation that the two disorders may be pretty similar under the hood.
Is stimulant medication during the day also a treatment for narcolepsy? Honestly one of the biggest reasons I take my ADHD medication even on days off is because of the excessive daytime sleepiness when I don't.
It is, a student of mine got a DX of narcolepsy and he was put on a stimulant to adjust his sleep schedule.
well at least the treatment is the same then! Makes me less worried about having the wrong dx lol
Paywalled article.
This is an archive link.