My surgery was original scheduled for April 2020 but due to the influx of COVID all elective surgeries were postponed. Hospitals needed all available PPE and medical equipment for the pandemic. I personally did not classify my surgery as elective. I saw it as the next step in my diagnostic journey. Maybe because it was a plastic surgeon who was doing the surgery, it was flagged as elective.
My neurologist, Dr. L was skeptical about finding a unifying diagnosis for all of my symptoms. All my other tests were either ‘normal’ or ‘not necessarily normal’ but no red flags to help identify a diagnosis. Dr. L said that a muscle biopsy was warranted however, even if they found something, it would not necessarily change my treatment.
October 6th, 2020 my husband dropped me off at outpatient surgery. The plastic surgeon and I decided on what muscle to take a piece of. Under the knife a little piece of my deltoid was removed and shipped off to pathology of a well known University in my state.
As with all of my testing, it came back ‘not necessarily normal’. No glaring red flags to help identify a diagnosis. Dr. L said that this was beyond her expertise. She referred me to the well known University.
From my previous experience with this University, it takes months to be seen. In this case, it took a couple of months for the University to review my records, then scheduled an appointment, for a year out. I waited an entire year.
December 2021 I had a call with a geneticist, Dr. Z. He disagreed with several of the diagnoses I had been given over the years. He refused to look at some of my test results because they were not ordered by a real doctor (ordered by a functional medicine practitioner). He said that some of the testing I had was primarily for newborns with metabolic diseases and not relevant for adults.
Dr. Z said that the muscle biopsy was not conclusive and the gold standard for diagnosis is DNA. If I wanted a diagnosis it would need to be through DNA. I explained that the testing should already be in my file. Dr. Z said that if I already had testing done, I need to follow up with the gene company directly. Dr. Z was very frustrated with the fact that a normal doctor would step outside their area of expertise to order genetic testing.
Being a University, I thought they might have additional tools or theories to help with a diagnosis. This did not seem to be the case. Dr. Z advised that I needed to follow up directly with the gene company and that maybe they will find something in a few years.
In 2009, I was involved in a clinical trial that took my DNA. 10 years later and with my symptoms not improving, I decided to get my DNA reviewed through a genetic company to see what they could find. In 2019, they found a gene with a variant of unknown significance.
For the last 10+ years I have been giving pieces of myself away - not even - I am paying other people to take pieces of me, with the hope of finding more about myself. Little did I know, the process of trying to find a diagnosis has given me what I needed, instead of what I wanted.
I wanted a diagnosis. But I needed the tools to handle uncertainty. I needed to build trust, knowing that I could take care of me. I know how to dig deep and look inside for answers.
I can also say with 100% confidence that a wholistic approach to my wellness and listening to my body is more effective than relying solely on allopathic medicine.