The Road to Autoimmunity is Not Linear
Like most people diagnosed with an autoimmune disease, my story is not linear, nor is it complete.
There are over 100 known autoimmune diseases and mine has yet to be determined.
At the end of 2016, I had my first miscarriage, and as bad as it was, I know how common it is for women to miscarry, so my husband and I decided to wait until my body healed (which took 6 months, aka 6 cycles) before trying again. We got pregnant right away and I immediately saw the NP at my OB/GYN’s office and she was quick to order blood work with anti-nuclear antibodies (ANA) and the MTHFR genetic mutation test. During my second pregnancy, the labs came back with severely low progesterone and a positive ANA and MTHFR.
The NP called me right away with a prescription for progesterone to try and keep the pregnancy viable, but she was too late…the miscarriage had already started.
The MTHFR (Mother F-er as we lovingly call it in functional medicine) is a genetic mutation that prevents those of us with the mutated gene from chelating heavy metals from the body (this explains my early-onset gray hair), and it also prevents something called “methylation.” When we consume B vitamins (among other things), our body goes through a process called methylation to turn folic acid from asparagus into folate which can then be absorbed by the body. With the genetic mutation, we are unable to add that methyl group (going way back to high school chemistry here) to the raw B vitamin (B9 in the folic acid case), so we just pee out the vitamins instead of absorb them.
Now this genetic mutation wasn’t necessarily the cause of my miscarriages; in fact it was probably the long-estimated diagnosis of endometriosis that I have. Me being positive for the MTHFR gene mutation though does point to a possible autoimmune issue. Many people with Hashimoto’s often have this genetic mutation as well…again, unable to absorb B vitamins or naturally detox heavy metals.
The positive ANA most often points to a rheumatic autoimmune disease like Rheumatoid Arthritis, Lupus (SLE), Sjogren’s, or Scleroderma. I have had extensive testing for all of these and fortunately, the tests come back negative. Unfortunately, this still leaves me on the hunt for what is really going on in my body.
My whole life, I’ve had digestive issues, and endometriosis, which isn’t classified as an autoimmune disease, but a study in 2019 did link endometriosis with immune modulating issues. There are three components required to develop autoimmunity:
Genetic predisposition
Life triggers (the three Ps: puberty, pregnancy, perimenopause)
Intestinal permeability (aka leaky gut)
I’ve basically stopped looking for a specific autoimmune diagnosis and follow an anti-inflammatory lifestyle which keeps my symptoms at bay and my gut health intact. I think the major trigger for me was pregnancy as it is for so many women.
I hope my story is helpful for other women out there who also haven’t had a linear road to their diagnosis or are still waiting to uncover one like me. To be honest, I don’t need the diagnosis, as long as I treat my body well, it’ll treat me well in return.