Some Possible Answers
The new year has started with a full round of doctor appointments and tests in the ongoing quest for a diagnosis. It's been two and a half years since my symptoms started, and while in autoimmune disorder circles that's certainly not the longest wait for a label, we would love to find some answers!
Back before Thanksgiving I was referred to a neurologist in town--my fourth neurologist on this journey. Having been to so many, I didn't expect much. I was bracing myself for the typical pleasant first visit, battery of tests, negative results, and "break up" when she ran out of ideas to test. She sat in front of me in the office and flipped through my chart. "I've been reading up on everything that's happened in the last two years, and I just have to say you have an impressive list of doctors! Some of them are the top in their fields--I studied under them in medical school. And all I can think is, 'If they can't find a diagnosis, how can I hope to?' But I'm sure going to try."
After some discussion and reviewing all the different diagnoses that have been ruled out, she had one more long shot possibility: small fiber neuropathy. And since they sometimes go hand in hand, she decided to go ahead and order a celiac panel.
The results from the labs were in within a week. They were very abnormal--as she said in my follow-up visit, "the most positive abnormal results I've ever seen." She referred me to a gastroenterologist to confirm a diagnosis of celiac disease.
Meanwhile, on Monday she performed a biopsy to evaluate for small fiber neuropathy. We're still waiting on those results and it could take up to six weeks to hear back. If a diagnosis is confirmed the symptoms can be managed with medication and some lifestyle changes. They may not be able to reverse the damage to my nerves completely, but she expects I would see some improvement.
Today I had my consult with the gastroenterologist. He reviewed my celiac panel results and confirmed that they are "highly suggestive" of celiac disease. He's scheduled an endoscopy for next week to confirm the diagnosis.
There's still a lot left to determine, but for the first time in all of this, we seem to finally be getting some traction. We may never have a full picture, but for the time being at least they seem to believe I've had some kind of autoimmune response that's caused the multitude of symptoms and problems, including possibly small fiber neuropathy and celiac disease. Whether the initial problem was stress, a virus, or something else is unclear. But it does sound like the pieces that are coming together are manageable and may lead to some relief. We're cautiously optimistic as we continue along this road!
