Basic info:
- Age/sex: 34M
- Height/weight: 5’5”, 200lbs
- Race: White/South Asian
- Primary complaint: neurological/neuropsychiatric
- Duration: since age 5, severe since 2017, extreme since 2024
- Existing medical issues: Mystery illness, OCD, overactive bladder, extreme IBS
- Current medications: Escitalopram (25 mg for OCD), Mirabegron (25 mg for bladder)
- Alcohol/smoking/drugs: None, zero substance use
- Country: Canada (Vancouver, BC)
Summary of condition:
I live with a debilitating mystery illness. It consists of an array of progressively worsening muscular, cognitive, motor control, and inflammatory problems affecting my entire body. The illness appears to have a major brain component, and may be neuropsychiatric in nature.
I am suffering terribly from severe brain dysfunction. Yet by far the most debilitating aspect of the illness is an incredibly extreme, unexplained gastrointestinal condition. These gastrointestinal symptoms have progressively worsened along a similar timeline and trajectory as the physical and cognitive ones, with rapid deterioration of digestive function in recent years.
During extreme flareups, I can now experience up to 75 bowel movements in a single day. I am increasingly verging on housebound (depending on one’s definition of the term), with diarrhea lasting for 6-12+ hours per day. It’s relentless. My entire body is being pushed beyond the limits, and I’m honestly not sure how much more my body can physically take.
I have been diagnosed with a Functional Neurological Disorder (FND). This stated, the FND does not necessarily explain the root causes of my condition, starting with the fact that the gastrointestinal and dermal inflammatory issues I experience are not listed as official FND symptoms. I feel like there may be some other underlying etiology.
As such, I have major unanswered questions about whether the illness is exclusively brain-derived (ie. strictly a brain disorder), or if these inextricably linked symptoms are being caused by some kind of genetic, autoimmune, or inflammatory condition.
The earliest signs of the condition started in early childhood. I’ve had pretty severe OCD since age 5, which has really worsened in recent years. Numerous cognitive and neurodevelopmental issues, including some major episodes of brain dysfunction (see list below for more details). Glycogenic acanthosis of the tongue since at least age 5 (recently diagnosed via biopsy.) Congenital muscular-skeletal defects. Early signs of digestive problems by age 8.
Recently I saw a dermatologist who confirmed that I have unexplained genital ulcers (very recent) and lichen planus lesions on genitals, arms, legs, and feet. I experience episodes of excruciatingly painful, allergy-like anal inflammation that is often associated with bowel flareups, but which has no correlation with abrasion or the exact number of bowel movements I have – generally speaking, it comes and goes independently, and occurs every few weeks, but sometimes can also be more frequent. It can range in intensity from mild to 10/10 on the pain scale. I also get painful swollen, bright red rashes under the arms and on non-mucosal genital skin which again comes and goes every few weeks.
Gastroenterologist says I’ve had literally every gastrointestinal test possible, including three colonoscopies, capsule tests, upper endoscopies, prednisone, probiotics, h. pylori tests, creon, biopsies, and every imaginable kind of medicine available. Nothing found. And of course, tests for allergies and the low-FODMAP diet. IBD, including microscopic colitis, has been decisively ruled out.
Rheumatologist says I don’t have any rheumatic conditions, but felt it was possible I could have something genetic. “Pick teeth” were noted. Psychiatrist says that OCD and brain function aside, I am in excellent mental health, and that my physical problems are way too extreme to be psychosomatic, though it could be neuropsychiatric. Ruled out degenerative brain conditions.
I do have a history of past PTSD, but started treatment back in 2018 and have literally done over 100 sessions of CBT. It’s been great for my mental health, but had zero impact on my physical condition. Mental health has been steadily improving since age 25, and despite the extreme challenges posed by the nature of my illness, is still improving in many ways.
In fact, the more my overall mental health and wellness has improved over the years, the more my physical health has drastically deteriorated. I would say I’ve been in full remission from PTSD for over five years now, and the only real major mental health stressors I have are my physical health and safety-related OCD / brain dysfunction. However, because I have this mental health history, it follows me like an albatross around my neck in terms of my symptoms being attributed to conversion disorder by clinicians who don’t know what to make of it all, even if it doesn’t seem to add up.
Neurologist decisively ruled out MS and felt I had classic FND symptoms, which I had suggested and agree with. However, I don’t know if an FND can cause stomach symptoms like what I am seeing, given how intense they are and that they aren’t on the FND symptom list, same with skin issues. Here are some additional details if helpful:
Timeline of illness:
- First symptoms since early childhood
- PTSD age 13-25, now in full remission for over 5 years, now age 34
- Started mental health treatments in 2018, with rapid improvements observed
- Gastrointestinal issues started by age 8
- Severe IBS flareups started age 15-16
- Severe gastrointestinal problems on daily basis by age 19
- No longer able to work or continue studies by age 24
- Condition started to rapidly worsen since 2017
- Condition has deteriorated markedly over past 2 years
Key gastrointestinal symptoms:
- Extreme diarrhea. On average, I experience about 20 bowel movements per day, with a “normal” or median range of 10-25 bowel movements over a span of 7-12 hours
- 30-40 bowel movements per day is extremely common
- Up to 75 bowel movements in a single day during severe flare-ups
- Diarrhea often lasts for 12-18 hours straight or longer during flareups. I’ve had non-stop diarrhea that literally lasts for up to 36 hours straight
- Poor motility, with incremental solid stool buildup despite the diarrhea. Easily prone to constipation, followed by extremely intense, violent illness.
- Bowels are never empty, no matter how much diarrhea I have, solids keep coming out. At my last colonoscopy several years ago, I had 260 (two hundred sixty) bowel movements, yet hard, solid stools were still coming out after the procedure.
- Frequent blood in stool, albeit in small amounts.
- Intermittent symptoms of gastroparesis, ie. excessive fullness lasting for prolonged spans of time (ie. up to 24 hours), difficulty eating full meals, delays in digestive time (ie. food that would normally pass through me within 7 hours might take 18 hours), episodes of nausea or vomiting.
- Occasional symptoms of “dumping”, ie. extremely fast digestion (30 min – 2 hours)
Key dermal / inflammatory symptoms:
- Genital ulcers (very recent)
- Glycogenic acanthosis on tongue since age 4
- Lichen planus lesions on genitals, legs, arms, and feet (past year)
- Extreme, excruciatingly painful allergy-like anal inflammation (since 2018)
- Painful, swollen rashes under arms and non-mucosal genital skin (since 2018)
- General skin issues – acne all over body
Key neurological symptoms:
- Facial spasms
- Extreme, prolonged fatigue
- Episodes with severe sensations of intoxication
- Episodes of muscle weakness, numbness, balance problems
- Severe OCD flareups where I can’t think clearly and get totally overwhelmed
- Rapid shifts between extreme safety-related OCD and being intoxicated and careless
- Depth perception problems (ie. where moving objects feel closer than they actually are)
- Cognition issues, where I forget “muscle memory” movements and how to perform tasks
- Freezing up, where I feel overwhelmed by the immediate environment around me
- Constantly having to “re-learn” the muscle memory of basic manual tasks
- Problems with motor control function and brain-limb communication
- Symptoms come and go with remarkable remissions
- Episodes come in waves
Neurodevelopmental issues:
- May be on autism spectrum
- OCD since a very early age, struggled a lot in school
- Difficulty following instructions or structured learning / sports activities
- Cognitive “freeze-ups” from a very early age, where I couldn’t process information
- Found myself in numerous situations where I would get confused by very basic things, such as how the lights at an intersection worked, and found myself “stranded” in odd places
- Inexplicably forgot how to swim at age 11, despite having always been a strong swimmer, and repeatedly tried but couldn’t figure out how to swim until I gave up and tried again at age 18 – and was instantly able to swim again, as if nothing had happened
- Muscular-skeletal defects since birth (ie. shoulders not properly connected in sockets, uneven hips, underdeveloped back muscles, physically unable to engage in many physical activities such as running or throwing a ball)
Other info:
- MRI normal, CT normal, X-rays normal
- B12 was borderline deficient, been at normal levels for past year
- All blood work normal; tested repeatedly over the years
- Healthy diet with high vegetable, low-carb intake
- Minimal sugar or caffeine intake
- Chronic bladder urgency (on mirabegron currently)
- Extreme, insatiable thirst often observed
- Possible narcolepsy, uses CPAP
- Symptoms continue unchanged across different living environments
- No correlations between stress levels and symptoms, both short-term or long-term
- Exercises regularly, makes effort to do things that I find cognitively challenging such as biking or walking in urban environment, in effort to fight the OCD and maintain muscular / cardio fitness and cognitive function
Potential next steps?
There’s way more information I could share if needed, but hopefully this covers the basics. Next steps, I will be doing a two-week inpatient stay at a neuropsychiatry program with my local hospital. The program in question is primarily focused on conversion disorders.
The doctor in charge is quite controversial for advocating against the use of FND as a diagnostic label, instead arguing that all FND’s are trauma-derived (even though I’ve read that as few as only 30% of FND’s are in people with psychiatric issues.) It’s merged with an addictions program, and the intake nurse told me that a lot of the focus would be on “deep personal reflection” and mental wellness, which I’m really not sure has anything to do with my condition.
This stated I will do the program in part just to say I’ve done it (as it’s the only program of its kind in my region), and in case I find someone willing to do more brain tests or refer me to other specialized brain health programs. They will also do lots of physical observations of things such as my eating patterns, bowel movements, muscular and cognitive function, etc. which could be potentially useful for subsequent diagnostics.
I also plan to connect with an FND specialist at a private neuro-physio rehab clinic in my city to get an external opinion. Lastly, if the inpatient program at the hospital yields no results, I have the financial resources to seek care abroad, and have been looking at FND/brain health programs such as the one at the University of New Mexico in Albuquerque. (See here for more info.)
This all stated, I really am not sure what exactly is causing these issues, or if an FND is the root cause or just a component of the broader symptoms. If anyone has any ideas for further testing, specialized programs, or any other thoughts on avenues of diagnostics or treatment, I would be greatly appreciative.
Thanks!
:)