People With Super Rare Disorders And Medical Conditions Are Sharing What It Took To Get Diagnosed
One week ago, I divulged my exhausting medical journey to a rare medical diagnosis, and asked others to open up and do the same. Before I go on to share what people had to say, let me first say, thank you! The first few years being in and out of the hospital were tough. In fact, some days were so bad that I wondered if I was going to make it home. People questioned if I was lying when I said I was sick because I didn’t have a cough or runny nose.
Reading your experiences touched my heart, and reminded me I’m not the only one who suffered only to discover they’re a medical phenomenon. I hope these stories help anyone out there feeling stuck and looking for answers. You got this!
Without further adieu, here are stories from the BuzzFeed Community sharing their journeys to rare medical diagnoses:
1.“I have hereditary coproporphyria [(HCP)]. There are 8 types of porphyria and it’s estimated there are around 200,000 people in the U.S. with this rare disorder.”
“I started having symptoms as a teen, and every doctor told me they didn’t find anything wrong with the different tests they would run. One physician’s assistant told me I clearly had a psychological problem and should see a therapist — because I either had an emotional disorder or was a hypochondriac. By the time I was 18, I weighed only 95 lbs and was on over a dozen meds (later discovered most of those meds were making the disorder worse).
I got lucky because a family friend was diagnosed with acute intermittent porphyria, and we shared a number of symptoms. I asked my gastroenterologist to test me. He initially brushed it off because the disorder ‘was too rare.’ I got angry and started to demand he run the test to at least eliminate the possibility. He finally agreed, ‘just to make me happy.’ When the results came back positive, I was indeed very happy! My doctor then photocopied the one page in his PDF covering porphyria and told me I now knew as much as he did on the subject. Despite there being no cure or treatment, I finally had confirmation there was indeed something wrong, and it was not all in my head. Thankfully, the American Porphyria Foundation now exists — so there is at least research being done and better educational resources.”
2.“My partner was diagnosed with stage 4 ovarian cancer. In the OR, they discovered that she has PMP, pseudomyxoma peritonei.
“PMP is a rare malignant condition that occurs when cancerous cells spread mucus-filled tumors throughout the abdomen. Fortunately, there was a doc with expertise in the condition at our local university hospital. He was able to overrule the oncologist who would have done chemo ‘just in case.’ She is one of the lucky ones who had the very slow growing version. She had a second surgery two years ago, and may need another. If we lived in a rural area, she would have died.”
3.“I started to experience crushing fatigue. As in, I would come home from work and go right to bed.”
“My nails started breaking all over the place and my hair started to go grey. I was only 28 years old. I had a million blood tests: they checked for lupus, among other things, but it took FIVE YEARS before someone FINALLY diagnosed me with hypothyroidism. The treatment is a lifelong daily pill to replace my thyroid hormone, and that's it. The prescription isn't even expensive; in fact, it's on Walmart's $4 ‘scrip list for patients with no insurance.
I had no internet at the time, or I probably would have figured it out and insisted they test for that. Instead, probably because of my age, they looked for zebras, but it turned out to be a horse.”
4.“I have trigeminal neuralgia (TN), which took a while to diagnose. I literally woke up one day, and half my face was numb.”
“I have a prior history of blood clots, so I panicked and thought I'd had some sort of stroke. A trip to urgent care and a CT scan revealed I didn't have a stroke, thank goodness. They thought it was maybe Bell's palsy, but that was ruled out, too. Typically TN presents with severe pain, but]mine didn't present that way until a good six months into it. Finally, my diabetic doctor (I'm a T1D) suspected TN, not based on my symptoms, but because it can be associated with diabetes. Saw neurology, and yep. Not only do I have a rare disorder, but I have one of the rarest forms of it. It affects only the first branch of my nerve right near my eye, meaning the location of the pain was also not in the typical location, further delaying my diagnosis.
I was put on medication for years until the disease progressed, and I could no longer tolerate the medicine. Two weeks before COVID lockdowns hit, I had a procedure done by a neurosurgeon, and (knock on wood) have been mostly pain-free ever since. Had I not been lucky enough to have a very well-educated endocrinologist as well as to live close to a nationally renowned TN expert, I have no doubt it would have gone undiagnosed for a long time. Rare disease plus rare version of it plus weird presentation equals a lot of medical folks thinking you're nuts.”
5.“I had ‘unexplained infertility,’ and was trying to get pregnant for over three years.”
“I did four rounds of IVF with one particular doctor — two of them ending in ectopic pregnancies, meaning the embryo implants in the fallopian tube instead of the uterus. Both ectopic pregnancies ended with surgeries and multiple chemo injections to force the miscarriage of the embryo.
Well, one of the ectopics burst, and I had to get the tube removed in an emergency surgery. I had dozens of tests done over a couple of years, and the doctor wanted to continue implanting as normal. I got a second opinion and decided to leave my clinic for a new doctor. He diagnosed me with silent endometriosis within a couple of months. I went through all the suffering before and likely would have continued to have ectopic pregnancies with that doctor. I am now pregnant with my first child with this new doctor. Advocate for yourself!”
–Anonymous
6.“I’ve had a headache every day for nine years as of November 2024.”
“Growing up, I rarely ever had a headache, but I distinctly remember asking for Tylenol on Thanksgiving of 2016. Weeks passed and I was still having headaches. By January, I was having a neurology consult and an MRI. All bloodwork came back perfectly fine. My neurologist determined I probably had new daily persistent headache syndrome (NDPH). I’ve tried countless medications, injections, lifestyle changes, etc. I was in high school at the time, so I missed a lot of school and even did homebound schooling because of my chronic pain. Trips to the ER were frequent and did not help much, if any. Thankfully, cognitive behavioral therapy allowed me to regain some control of my life so I could go back to high school and eventually college. Currently, a combination of Botox and a monthly injection keep it mostly manageable, but the pain changes with weather, pressure, and stress.”
–Kailyn
7.“A few months after getting H1N1 flu, I started sleeping for very long periods of time (up to 20 hours, sometimes two days in a row on weekends), yet felt like I never slept. I suddenly had to set multiple, very loud alarms to wake up and felt sleepy all day like a zombie.”
“I kept being told I had atypical depression, even though I did not meet the criteria of depression. I had a sleep test, which diagnosed mild central apnea, and was provided a CPAP, which did nothing to relieve my symptoms. I was also diagnosed with ADD, even though I had no ADD symptoms at all before getting the flu. After I was infected with the Delta Variant of COVID, it became worse to the point I would have to stand so I wouldn’t fall asleep eating. My memory and ability to prioritize went from very good to scary bad. I couldn't remember my pets’ names. I thought I had dementia.
After finally being referred to a PCP, who was known to be a diagnostician, he suggested I might have idiopathic hypersomniain in April 2023. Two sleep tests within 24 hours, a polysomnogram with CPAP, the Multiple Sleep Latency Test (MSLT), and a nap test confirmed his diagnosis of idiopathic hypersomnia. The only FDA-approved drug for the condition is Xywav, a sodium oxybate, which is also known as Gamma-Hydroxybutyric acid (GHB), which has been referenced as a date rape drug.”
–Anonymous
8.“Non-radiographic spondyloarthritis, hip pain that was dismissed for years. It took eight years to even get an x-ray.”
“An MRI led me to several orthopedic doctors, one of whom said I needed a replacement but was too young and fat. Another eight years went by, and my new primary doctor ordered an MRI of my spine. Boom! Cysts on my spine and degenerative disc disease. Even then, my first rheumatologist had the nerve to tell me it was fibromyalgia, even with the scans to look at. I am finally finding relief with biological medication, but the spine damage is done. The medication is thousands of dollars a month without coverage by my health insurance, but that's a story for another day.”
9.“I was vomiting, blacking out, and had chronic fatigue all through my teens. I was put on numerous SRIs (serotonin reuptake inhibitors) for anxiety.”
“I then suddenly lost six stone in 12 months. I went to A&E daily for 2 weeks to be told it was all in my head and referred to the mental health team.
The next day, I collapsed and was in an adrenal crisis. I was diagnosed with Addison’s Disease. A young student doctor suggested the tests. I’m forever in his favor for getting me diagnosed!”
10.In elementary school, I was always falling down on the playground. I had issues with my joints that would send me to the emergency room. I would bruise easily.”
“I dealt with a lot of pain, but my parents were told I was just struggling to fit in and was using this for attention. By middle school the joint pain and bruising got worse. I had frequent migraines. By high school, most days I barely wanted to function. I was in and out of the emergency room or the orthopedist’s office. I lived at physical and occupational therapy constantly. My parents were told at this point, ‘It’s normal; she’s growing,’ and the pain I was experiencing was all in my head. My joints always felt loose, and I felt like I was falling apart constantly.
After graduation, my pediatrician said the bruising was still abnormal, and after the blood work was normal, they sent me to hematology. He asked for all my records from birth to that moment, and we reviewed them together for an hour. Finally, after 18 years and one week (exactly), I was told I had hypermobile ehlers danlos syndrome (EDS). I scored a perfect score on the Beighton scale and was sent to a geneticist and rheumatologist.
I am now 35, and some days are better than others. My joints show wear and tear, and I have osteoarthritis in both knees. To compound it, I also have CRPS (complex regional pain syndrome), rheumatoid arthritis, and POTS. Trying to collect illnesses like Pokemon around here.”
—Cait
11.“In 2017, I started having extreme burning pain in my hands and feet — they would turn bright red and swell. The flare-ups were intermittent and triggered by heat.”
“In addition to being painful, it was very noticeable by others. When I went to doctors, they told me it wasn’t anything to worry about. Over the next two years, the symptoms got worse, and I started having symptoms in my eyes (burning, redness, pain). After years of misdiagnoses, condescending remarks from doctors, and thousands of dollars, a neurologist and a cornea ophthalmologist listened. I was diagnosed with erythromelalgia, a rare vascular peripheral pain disorder, and corneal neuropathy, a rare pain disease caused by damage to the nerves in the cornea. Unfortunately, the two diagnoses are hard to treat, chronic, and can be debilitating. I am always in pain and tire easily.
It’s impacted my ability to work, socialize, and sleep. I’ve had difficulty getting time off from my employer to go to appointments and have even been written up for going just a few hours over my sick time. But, I’m carrying on. I’m very lucky to live in a city where I have access to good health care. I exercise, eat well, drink water, take my medications, and go to my appointments. I am slowly learning to live with pain and really soak in those good days. 💕”
—Anonymous
12.“On February 1, 2015, my husband called to let me know our 19-year-old son, Scout, was sick with a horrific headache and nausea. He had taken Scout to the ER but had been sent home with a flu diagnosis. My sister told me to get him checked for meningitis.”
“The doctor who performed the LP (lumbar puncture) held up the glass tube, which was milky green, and said, ‘We don't even need to send this to the lab, he’s got meningitis!’
At first it was just two bouts in 2015 and then nothing in 2016. In 2017 it returned with two more bouts. At this point, there was some interest since meningitis does not typically keep recurring, but there were never any conclusions. He was passed around from neurology to infectious disease before going to rheumatology. We could get no answers, and eventually the hospital lost interest unless he was admitted.
In 2018, Scout had 10 bouts of meningitis and was in and out of the hospital almost monthly. He was so sick I didn’t think he could survive.
In 2019, the meningitis continued, and in May, he had a grand mal seizure. Two weeks later, in June, we got him to UCSF where they completed a three-hour interview. Later that night, they rushed an urgent list of 10 new tests and gave a recommendation on how to stop the meningitis.
The testing took two months, but UCSF finally diagnosed Scout with an extremely rare genetic condition. He was identified as the fifth person on the planet to have CFI deficiency.
In 2023, Scout’s doctors and the NIH published a paper on his rare condition in hopes that it will help other doctors recognize CFI deficiency so others won't have to go through what my son and our family did."
—Lauri
13.“Primary hyperparathyroidism. I was finally diagnosed with it five years ago after having it for 17 years prior. Still went another three years before I had surgery to fix it.”
14.“Hidradenitis suppurativa. Took 12 years of misdiagnosis before I finally found out what I have, and I only found out due to being lucky.”
15.“All my muscles began to ache one day as if I'd been in an intense workout. Then they got weak. I felt like a small bone was stuck in my throat, and hard to swallow.”
“Due to the swallowing problem, I was sent to a gastroenterologist first. He blamed everything on the ‘stress’ of having a newborn, and though I told him I wasn't stressed, he called my primary doctor and told her that I was a hypochondriac. No one had the slightest idea what my real problem was, so I started reading medical books. Meanwhile, just lifting a cup of coffee began to feel like lifting a dumbbell, and I could barely wash or comb my hair. The only condition that fit in the medical books I read was dermatomyositis, an autoimmune condition affecting the skin and muscles. My primary doctor didn't think DM could be the diagnosis but agreed to order lab tests for me. Finally, the tests came back and my own diagnosis was proven.”
16.“When I was 14, in the 1990s, I woke up with a very red arm. My mom thought I had slept on it weird and I went to school. By the end of the day, my arm was blue. Turns out, I had a very large blood clot in my arm caused by a cervical rib and malformed scalene muscle, which is referred to as thoracic outlet syndrome.”
“This is a less-than-one-percent-of-the-population kind of syndrome. A month in the hospital and one big surgery later, it was fixed. Flash forward 25-plus years, and after a few months of feeling off, having odd stomach pain, hives, and exhaustion, my heart rate spiked to 160, and I went to the ER. A CT revealed blood clots in both lungs, and then an MRI showed blood clots all throughout my chest and abdomen. The stomach problems were really a massive clot in the vein behind my stomach. At first, the doctors thought it was caused by birth control pills. My amazing primary care doctor disagreed. One doctor brought up May-Thurner syndrome, which is another physical cause of blood clots in your pelvis/base of the spine, but I didn't have a noticeable clot in my left leg, the biggest sign. My doctor said, 'well, we could do an MRI and see, but the best treatment would be the same, and the chances of you having two of these rare disorders that cause clots are crazy high.' Two years later, I had an MRI of my pelvis for something else, and yeah, I also have May-Thurner.”
—Anonymous
17.“I started getting sick with bronchitis frequently, about 10 times a year. That progressed into bronchitis and — a first for me — sinus infections. That progressed into bronchitis, sinus infections, and double ear infections, all at once. About 12-15 times a year.”
“Then, I started getting written up at work. I was due to have surgery and came down with my umpteenth pneumonia. It can be complicated to get the necessary paperwork together for leave, and the thought of doing all the approvals and paperwork sent me over the edge. I freaked out on my doctor. This had been going on for five years! I demanded he do SOMETHING and screeched, ‘check my immune system, do SOMETHING, this isn't normal!’ He did, and there it was. All my immune globulin levels were tanked. I was quickly diagnosed with CVID (common variable immunodeficiency). I thought, ‘Cool, give me the meds, and let’s get on with life.’ Little did I know that was only the beginning. CVID puts you at high risk for other things like lymphoma, lung disease, GI issues, and autoimmune diseases. I have since been diagnosed with an even rarer lung disease called GLILD (granulomatous lymphocytic interstitial lung disease), lupus, arthritis, and NRH (Nodular Regenerative Hyperplasia) in my liver.“
—Kelli
18.
Submissions have been edited for length/clarity.
