MTHFR, Chronically Ill, Mental Illness, & Loss. Read Below ⬇️
After finally receiving my MTHFR mutation diagnosis, but the truth is, I’ve been fighting with everything in me just to make it this far.
My journey started when I was around 13. Doctors brushed off my symptoms and told me I was “double-jointed,” which at the time just made me a great gymnast. I didn’t know anything, so I kept pushing through the pain. Then came a serious hip injury that never healed right and left me feeling “off” ever since.
At 15, I got my first cycle..along with softball-sized cysts and pain that brought me to my knees. Every doctor told me, “Your periods will regulate. Every woman gets cysts.” At 16, I lost my first baby. Somewhere between 12–16 weeks, the baby stopped growing, and even then I was told, “These things happen.”
At 17, I got pregnant with my son and had him at 18. I bled my entire pregnancy for no known reason, yet he arrived healthy, he was an overdue 8 lb 2 oz little miracle. My male OBGYN told me I “probably” had endometriosis, but since I’d had one healthy pregnancy, it was likely “just a mild case.”
Between my son’s birth in 2011 and today, I’ve had five more losses with my husband, unfortunately including two ectopic pregnancies that took both of my tubes, plus three other early losses. On top of that came a decade of mental health misdiagnosis. I spent 10 years being told I had bipolar disorder, only to learn it was actually CPTSD, AuDHD, PMDD, and anxiety. I admitted myself to the mental hospital twice just to beg for help, all while being bounced between doctors and left on medications that barely kept me afloat for seven years saying I was “just bipolar.”
It wasn’t until the right psychiatrist stepped in that my entire medical journey finally shifted. Because of her advocacy even reaching out to my PCP helped uncover diagnosis after diagnosis that should have been caught so much earlier: HEDS, dysautonomia, Hashimoto’s, endometriosis, adenomyosis, MCAS, and now the MTHFR gene mutation.
I can’t help but wonder… why did it take from age 13 to 32 to get here? Why do so many of us go through loss after loss before anyone listens? Before anyone helps? My heart aches for all of us navigating these invisible battles, begging for validation we deserved from the beginning.
For a long time, I stopped going to the doctor at all because the trauma outpaced the hope. But I don’t want anyone else to endure what I did, the losses, the dismissals, the years stolen by misdiagnosis. If sharing my journey helps even one person feel seen, understood, or less alone, then it’s worth it.
I’m also wondering if anyone here has gone through IVF after dealing with chronic illness, recurrent losses, or complications connected to MTHFR. If you have insight, I would truly appreciate hearing your experience.
Thank you for holding space for stories like mine. I’m here to heal, but also to make sure no one else has to fight this hard just to be believed. Thank you for listening 🫶
Living with the MTHFR gene mutation and multiple chronic health conditions is often an isolating and challenging experience. Many people with this mutation face complications like recurrent pregnancy loss, mental health struggles, and autoimmune disorders, all of which may remain undiagnosed for years due to the complexities of symptoms and overlap with other conditions. It’s crucial to understand that MTHFR mutations can affect the body’s ability to process folate, which in turn impacts DNA methylation and can lead to increased risk of blood clots, miscarriages, and mood disorders. For those navigating this journey, connecting with knowledgeable healthcare providers who listen and advocate on your behalf is a game changer. Many patients report feeling dismissed by doctors, especially in cases where symptoms aren't visibly evident or easily explained. This experience can foster trauma and distrust, making it difficult to seek help or treatment. Mental health misdiagnoses such as bipolar disorder when the actual causes might be complex PTSD, PMDD, or neurodivergence emphasize the need for comprehensive and compassionate psychiatric evaluation. Recognizing the interplay between physical illness like Ehlers-Danlos Syndrome (HEDS), dysautonomia, and autoimmune thyroid conditions such as Hashimoto’s is essential to building an effective treatment plan. For individuals dealing with recurrent pregnancy loss and infertility related to MTHFR, exploring options like IVF requires careful consideration and collaboration with fertility specialists familiar with thrombophilia and coagulation issues. Some find that addressing folate metabolism through supplements like methylated folate or managing MCAS symptoms can improve outcomes when combined with specialized reproductive care. Sharing these experiences and building community support can help break the silence and stigma around invisible illnesses and repeated losses. It also empowers others to advocate for themselves, seek second opinions, and never stop pushing for early diagnosis and personalized care. Healing is not just physical but emotional, and finding understanding and validation along the way is invaluable. If you are facing similar challenges or have insight on managing IVF with chronic illness and MTHFR mutations, your shared experiences can provide hope and guidance to others still on this difficult path.