Recently, while working in a medical facility, someone said to me that they knew I was an employee, because I "look too healthy to be a patient.” This comment made me sad, as it was yet another reminder of the daily struggle for everyone living with invisible illnesses. Nothing can be possibly wrong with you, because you “look fine,” and there’s constant pressure to “prove” your experiences are real — both in general and specifically, in the doctor’s office.
May is Ehlers-Danlos Syndrome (EDS) awareness month, which is an inherited connective tissue disorder, affecting how the body makes or uses collagen, depending on the specific subtype; the most common form being Hypermobile EDS (hEDS). EDS is often paired with substantial comorbidities, which for me includes Chronic Inflammatory Demyelinating Polyneuropathy (CIDP), a neuromuscular autoimmune disease and the chronic form of the acute Guillain-Barré Syndrome (GBS). Given that May is also GBS/CIDP Awareness Month, and I receive a lot of questions regarding my CIDP symptoms, I wanted to delineate my symptoms and experience, along with the reactions and diagnoses (or lack thereof) I received from the medical community. It took me over 12 years to finally be diagnosed and obtain treatment for CIDP.
- Tripping & Falling — Foot Drop
- In January 2006, I fell down a flight of stairs. I don’t remember the fall, only that one moment I was at the top of the stairs, and the next moment I was on the landing and all of my belongings were spread out all over the floor. Later that week, I also fell going up the stairs twice, and I fell again while trying to balance on one leg to put on a pair of pants. I didn’t know it at the time, but falling up the stairs is a symptom of foot drop, due to muscular weakness and the inability to lift the foot high enough to clear the step.
- I couldn’t stay awake in classes and all I felt like doing all the time was sleeping. I didn’t feel like sleeping because I didn’t want to do other things — I had so many things I wanted to do, but I was exhausted and had no energy to do anything. This symptom was bad enough for me to go to the doctor.
The first doctor, in 2006, told me that I was depressed and didn’t know it. I told the doctor that I didn’t feel depressed, but she insisted I was depressed. She put me on Wellbutrin, which did nothing, but did make me gain 30 pounds, which was, in fact, depressing. It also made me sit still for hours at a time and stare at walls. I later stopped the medication and felt slightly better without it.
The second doctor, in 2009, told me I needed to eat healthy and exercise more — that I was tired because I was “overweight” (I weighed 135 pounds, which is not overweight). I did these things anyway, just to prove they weren't the issue. I was down to 114 pounds and still felt awful, and his next explanation was that I was tired because I was “stressed” and “bored,” and perhaps I should go back to school.
In 2016, an immunologist told me if I went hiking for a month, it would reset my sleep cycles and cure my fatigue. Ironically, CIDP causes weakness in the arms and legs, so if I had gone hiking for a month, it’s unlikely I’d come back.
- Excessive Sweating/Lack of Sweating
- In 2006, my hands and feet stopped sweating entirely (anhidrosis), whereas the rest of my body started sweating excessively (hyperhidrosis), all the time and randomly. I could be sitting at a desk in an air conditioned room, and I’d randomly break out into a sweat. Nothing about it made sense.
The initial doctor ignored this problem, but commented on how I “look miserable.” (Yeah, I was miserable, thanks for noticing.)
The second doctor told me the sweating was “just how I am,” but prescribed Oxybutinin, an overactive bladder medication, which resulted in severe dry mouth and ironically eventually caused (even more) frequent urination, as well as urinary retention, so I stopped the medication. I also tried DrySol, but it burned my skin; it turns out I'm allergic to aluminum.
In 2016, an immunologist told me I had excessive sweating because of the anxiety disorder that I don’t have, which also didn’t make much sense, because if I had anxiety, it would make far more sense for my hands and feet to sweat excessively, and they don’t sweat at all. Plus, anxiety still wouldn’t explain why I sweat for no reason in cold temperatures, which is a temperature dysregulation problem and a symptom of autonomic nervous system dysfunction (Dysautonomia).
- Brain Fog/Attentional Deficit Disorder (ADD)
- My attentional issues likely stemmed directly from the severe fatigue and autonomic dysfunction that I didn’t know I had, but I was sent to a psychologist, in 2010, who diagnosed Attentional Deficit Disorder (ADD), primarily inattentive type, and was prescribed Adderall. It helped slightly, but I could still fall asleep while on it, so while it helped, it wasn’t close to any sort of miracle. I was still tired all the time.
The psychologist tried to convince me that I had residual unacknowledged and unresolved anger over being adopted (I don’t, thanks for the concern though).
- Bell’s Palsy
- Bell’s Palsy is a type of temporary facial paralysis resulting from damage or trauma to the facial nerves. For me, this problem always occurred specifically on the bottom lower right-hand side of my face and happened about two times each year from 2006 to 2015, when, in 2016, it started happening more and more frequently.
- Pseudobulbar Affect (PBA)
- PBA frequently occurs in association with a variety of neurological diseases, such as ALS, Alzheimer’s, stroke, traumatic brain injury, brain tumors, and Multiple Sclerosis, a demyelinating disease with many similarities to CIDP. It is often misdiagnosed as a mood disorder, such as depression or bipolar disorder. However, PBA is a disinhibition disorder, resulting in uncontrolled crying or laughing, which may be disproportionate or inappropriate to the context at hand. That is to say that the patient perceives their own reaction to either be exaggerated in the given situation and/or not matching how they feel. The individual is unable to suppress the reaction/control their external display of emotion. This condition can be extremely embarrassing, resulting a lower quality of life and restrictions in social interactions. For me, my trigger was specifically being frustrated and trying to talk about said frustrating thing, which resulted in crying, when I actually didn’t feel like crying at all — if anything, I felt annoyed. Obviously, this problem was distressing and greatly impacted my life. However, it has significantly improved since I started IVIg.
- Positional Headaches
- I started experiencing headaches, around 2011, any time I changed positions from lying down to standing, which is a known symptom of autonomic dysfunction (Dysautonomia) and is particularly associated with Postural Orthostatic Tachycardia Syndrome (POTS), but unfortunately, my doctor didn’t have much input to provide regarding this problem as he wasn't familiar with either of these concepts.
- Clumsiness/Heavy Limbs
- In 2013, I started dropping food on myself a lot while eating and spilling drinks, which was odd for me, as I’d never been clumsy. I also didn't think much about these issues at the time, but my pots and pans and my hair dryer started feeling significantly heavier. My legs also felt heavy to pick up, even simply to walk.
- Erythromelalgia (Burning Feet)
- I started, in 2013, having hours long episodes where my feet would swell, turn bright red, and feel like they were on fire. In 2015, I realized these episodes were triggered by gluten. Removing gluten from my diet helped immensely, though I still get attacks occasionally, usually triggered by heat.
- Difficulty Using Hands/Dropping Things
- In 2015, I started noticing I was increasingly dropping my phone, and I frequently dropped bottle tops and other smaller items. I was also having problems latching the clasp on bracelets and necklaces and utilizing small-sized items.
- Vision Problems on Right Side
- I started intermittently experiencing blurry vision in my right eye, where I could still see, but it almost seemed like there was something directly in front of my eye obscuring my vision from being completely clear. I’d also have episodes, while walking, where I would feel like I was being pulled towards the right. If I concentrated, I could still walk in a straight line, but the feeling remained regardless.
- Urinary Problems/Incomplete Voiding, “Saddle-Region” Numbness, & Cauda Equina Symptoms
- Cauda Equina occurs when the nerve roots at the end of the spinal cord are compressed and disrupt motor and sensory function to the legs/feet and bladder. Symptoms can include numbness, tingling, and/or altered sensation in the “saddle region” (the nicer term for groin), low back pain, and bladder and/or bowel dysfunction (such as urinary retention). For me, this symptom started after I’d just finished two years of pelvic floor physical therapy for hypertonic/nonrelaxing pelvic floor dysfunction.
- Muscle Atrophy
- In February 2016, I noticed the muscles in my calves were starting to look atrophied. In CIDP, the longer the disease goes without treatment, the more neurological damage is done, eventually leading to axonal damage, which results in muscle atrophy/wasting. By July 2016, the muscles around my knees started looking atrophied as well, as the disease damage ascended.
- Hand/Forearm Weakness
- In 2016, I noticed long periods of time where my hands and forearms would feel excessively tired & heavy, and I also started making more and more typos, which was resulting from a lack of strength in my fingers to adequately push keys on the keyboard. I also had difficulty at times turning the key in the lock, and my steering wheel, while driving, became increasingly heavier.
- Numbness & Tingling — Initially this symptom was just in my toes, then my feet and legs, and it eventually ascended affecting my pelvis and then spreading across my abdomen and up my back.
- Feeling of Water Running Down Leg — This symptom is neurological and is usually experienced as either water trickling down the leg or as a feeling of bugs crawling on the skin. It’s best known for its association with arachnoiditis, which is inflammation of the arachnoid membrane that surrounds and protects the nerves of the spinal cord.
- Fasciculations (Muscle Twitching) — Fasciculations are defined as “visible fast, fine, spontaneous and intermittent contractions of muscle fibers." For me, these increased in frequency over the years to the point that by 2015, I had muscle groups twitching all over my body, all day long, rotating around constantly.
- Loss of Taste — This problem can occur in neuromuscular disorders when the cranial nerves are affected.
- Hyperacusis — This disorder results from the way in which the brain’s central auditory system perceives noise, which can result in pain, discomfort, and an overall collapsed tolerance to otherwise normal environmental sounds. Most individuals with hyperacusis also have tinnitus.
- Tinnitus — Tinnitus is the perception of sound when there is no external source of sound. It is often described as sound characterized by ringing, buzzing, clicking, and/or pulsations inside the ear.
- Dysphagia (Trouble Swallowing) — The ability to swallow involves a complex coordination of neuromuscular actions, and disorders affecting the “central swallowing network or downstream peripheral nerves, muscles, and structures” can impair an individual’s swallowing ability. Given swallowing is “a vital human function,” this symptom can greatly impact quality of life. I also lost the ability to gargle, which returned after 4 months of IVIg.
- Vocal Cord Dysfunction (VCD) — VCD results from abnormal motion of the vocal cord, usually with inappropriate and paradoxical adduction of the vocal cords during inspiration. VCD is often misdiagnosed as treatment-refractory asthma.
I was told by an immunologist that I was causing my vocal cord dysfunction myself, psychiatrically, and needed to go to speech therapy to unlearn my habits of using my vocal cords incorrectly — obviously, this approach didn’t help, as I wasn’t imposing VCD upon myself, and not only was CIDP and autonomic dysfunction contributing to this problem, I also had reflux, a known trigger for VCD, which I suggested to the doctor as a possibility, but she refused to give me a referral to ENT for evaluation, because clearly it was far more likely that the problem was psychiatric. I ended up in the hospital two weeks later with Stevens-Johnson Syndrome, resulting from a medication she recommended (Nuvigil), and my throat was so swollen that I started choking on my reflux, at which point I was given reflux medication, and my VCD mostly resolved.
- Trigeminal Neuralgia — A chronic pain condition affecting the 5th cranial nerve, causing high intensity shocks of facial pain. It can also cause pain within the teeth, that feels like you have a cavity, except you don't.
- Restless Leg Syndrome (RLS) — A neurological disorder resulting in an uncomfortable feeling in an individual's legs while they’re sitting or lying down, which is relieved by moving the legs or walking. It is possible that RLS could be an indicator of an underlying demyelinating disorder and that patients complaining of RLS should be screened for CIDP. RLS was one of my first initial complaints, along with fatigue and sweating. A high prevalence of RLS has been found in both inflammatory neuropathies, such as CIDP, and in hereditary neruopathies, such as Charcot-Marie-Tooth (CMT).
- Nystagmus — This condition results in the eyes making repetitive and uncontrolled movements.
- Vestibular Dysfunction — Vertigo is a common manifestation of vestibular dysfunction, and vestibular dysfunction often occurs along with balance dysfunction (measured by the Romberg test). This issue seemed irrational to me at the time, but I also developed an extreme fear of riding a bike, which does make sense if you're having balance problems.
- Trouble Breathing — When CIDP affects the diaphragm, breathing can be impacted. For me, this symptom improved immensely with IVIg.
- Heat Intolerance — While certainly a common symptom of autonomic dysfunction (Dysautonomia), worsening of symptoms with heat is also a well-known feature seen in Multiple Sclerosis, which is also a demyelinating disorder, like CIDP, in which this problem is known as Uhthoff's phenomenon. It would not surprise me if this issue is also common in CIDP and simply has not been studied.
My 2017 neurological testing [EMG & NCS (nerve conduction study) — both sides, right and left, arms and legs] revealed:
- Positive Romberg — The Romberg test is used to diagnose sensory ataxia in patients with loss of balance and gait disorders; it is an essential part of the neurological exam, especially for patients with dizziness, clumsiness, and falls.
- Absent Reflexes — measures responses to muscle stretch.
- Absent F-waves — a measure of nerve conduction to and from the spinal cord.
Despite all of these overwhelming symptoms, I looked “fine” and was told by numerous doctors, a.k.a. "experts," for over 12 years that I was “perfectly healthy,” and nothing was wrong with me.
If there's one primary takeaway from awareness months, please let it be that appearances can be deceiving. Things may not always be as they seem. Please don’t make assumptions about that which you do not know, and be kind; you never know what someone is going through, no matter how “perfectly healthy” they may look.
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