Existing as a medical mystery for sixteen months has been a nightmare. I am hopeful I finally have a definite diagnosis, but I haven’t quite allowed myself to put full faith in that answer.

I would love to confidently start dealing with my new reality, but this isn’t my first go-round with a diagnosis. I’ve been told ‘You have this’ – only to have it turn out not to be the case.

With each diagnosis, even when it was horrifying, I felt a sense of resignation and direction. You know the saying…’better the devil you know than the devil you don’t.’

Each time a diagnosis turned out to be inaccurate, it was crushing.

And when mouth sores and ulcers are your primary symptom, there are lots of possible ‘devils’ to examine on a path to diagnosis.

First Guesses

Early on, most of the possibilities seemed like no big deal… oral allergy syndrome, a reaction to sodium lauryl sulfate in my toothpaste, a mild candida outbreak from using Flonase for seasonal allergies, or possibly an atypical strep infection. I stopped Flonase, switched my toothpaste, started taking Benadryl, did a couple courses of antibiotics, and used a ‘magic mouthwash’ my dermatologist prescribed to numb the pain. None of these helped, and I went on to see an ENT.

The ENT looked in my mouth and said ‘Well, I can tell you this isn’t oral cancer or candida or strep – it looks VERY autoimmune to me. I suggest you get some bloodwork done and get on a waitlist to see a rheumatologist.’ He prescribed me a dexamethasone steroid rinse and sent me back to my primary care doctor to coordinate referrals.

The steroid rinse helped a little, so my primary care doctor wrote me a prescription for a prednisone taper and ran a full autoimmune panel. By this time, I had completely gone down the rabbit hole of Googling autoimmune conditions that involve mouth sores. There were many – Lupus, Behçet’s, Pemphigus, Lichen Planus, Celiac, etc. I asked my primary care doctor about these diseases, but he openly admitted they were not his area of expertise.

Is this really autoimmune?

The results of my autoimmune panel came back mostly normal, with the exception of an out-of-range ANA. The abnormal ANA test opened an avenue for my primary care doctor to send a referral to rheumatology. Two practices outright denied the request, citing their lack of resources to see new patients. The third put me on a waitlist, and said it could be six months or more to be seen.

Between July 2023 and December 2023, I called the rheumatology office several times a week, begging to slide into someone else’s cancelation. I lived on rounds of prednisone. I would improve on the high doses, but as soon as the dose tapered to 20mg, my symptoms came roaring back. I lost weight rapidly because I just couldn’t eat without the flesh flaying off my inner cheeks, tongue, gums and esophagus. Every day was painful, bloody, and terrifying. I saw my dermatologist and primary care doctor a couple times while I was waiting for rheumatology. My primary care doctor gave me more prednisone, and my dermatologist deferred and said I really needed to wait to see rheumatology.

In November, I got a call that they had a cancelation for me in rheumatology. The next morning, as I was driving to the appointment, they called and canceled – the doctor had been called to jury duty. I pulled over to the side of the road and wept. I think the scheduler took pity on me, because she called a few days later with another cancelation in early December.

At rheumatology, I ended up seeing a wonderful, compassionate nurse practitioner. She did a more extensive autoimmune panel and some additional basic bloodwork. She looked for vitamin deficiencies and anemia. She tested me again for celiac disease, due to my family history. All my tests came back normal, with the exception of the ANA (again!) ANA tests are pretty vague and are not definitively associated with any particular disease. She guessed that some of my symptoms looked like maybe Behçet’s, and suggested I try a medication called colchicine to see if it helped. (It didn’t). She also suggested that I return to my dermatologist because many autoimmune diseases with symptoms like mine fall under their umbrella of expertise. She thought it was time to consider dermatological biopsies. Her final thought was that maybe this wasn’t autoimmune – it wasn’t really presenting like anything she’d seen before.

Back to the dermatologist

By January, I was a ghost of myself. I couldn’t eat anything that required chewing. I had lost 20% of my body weight. I was weak and blacking out whenever I stood up. I went back to dermatology right after New Year’s and asked for biopsies to be performed. I wanted the dermatologist to try rule out the autoimmune diseases that are diagnosed and managed by dermatology – lichen planus, chronic ulcerative stomatitis, lichen planus, mucous membrane pemphigoid, and pemphigus vulgaris (among others). She agreed it was time to dig deeper – and on a snowy morning, I had a punch biopsy removed from the lining of my mouth.

I was sure it would tell me what was causing me so much grief. It did not – it was only the beginning of so many things going horribly wrong.