Rare Disease Day 2022 - 1 in 9 million

What if you were told you had very rare disease that is so rare it's found in 1 in 9 million people?

Let's start by talking a little bit about the Pituitary gland. It's often referred to as the "master gland" because it not only secretes its own hormones, it tells other glands to produce hormones. The Pituitary is a pea-sized endocrine gland located at the base of your brain behind the bridge of your nose. If your Pituitary doesn't function properly, it affects vital parts like your brain, skin, energy, mood, reproductive organs, vision, growth and more.

Now I'll take you back to finding out that I had a rare autoimmune disease. It's quite the round about way to it and in the end still come out with unanswered questions! I had a D&C for my missed miscarriage in August of 2021. It took me a few months to emotional recover, physically I was feeling better about a week or two after. It was November and I was turning 39 and I started thinking more about my POI diagnosis and that fact that I would most likely not get pregnant again at this point. Then I remember the Reproductive Gynecologist I met with back in June said I should get a DEXA scan due to my low estrogen. When I found an office that had the machine I saw on their website that they also specialize in hormone treatment. So after my DEXA scan I made an appointment to discuss starting hormone therapy treatment. The nurse practitioner I met with was amazing, one of the best medical professionals I've met with thus far! She spent two hours going over my health history and symptoms etc. Most of my symptoms were typical menopausal, low estrogen, hormonal imbalance symptoms - hot flashes, night sweats, sleep disturbances, etc. But I also mentioned my headaches, vision issues, and the random bouts of nausea I had. These were a concern to her as they didn't seem like usual symptoms for menopause/POI. She suspected a Pituitary Adenoma, and went on to explain that they are usually non cancerous tumors that are actually fairly common but that they can severely impact your hormone levels since the Pituitary is essentially the master gland. She asked if I would be willing to do an MRI just to rule it out and we discussed that I had already met my insurance deductible for the year (thanks D&C) So we needed to get a referral and get it scheduled asap so insurance would cover it. I was able to get in the Monday after Christmas on December 27th. While trying to enjoy Christmas with family that weekend I was feeling nervous and anxious. I had never had an MRI before but my husband has and he said he was very claustrophobic and felt like he was going to have a panic attack! The morning of I was siking myself up saying I'm sure it's nothing everything will be fine I'm sure I don't actually have a tumor in my brain right?! The results came through later in the day and I was able to look over everything myself although I had no idea what I was reading or looking at. In comes Dr. Google again! The next morning my nurse called and had me come in so she could discuss everything with me in person (just another reason why I love her) She explained to me that it was not actually a tumor but inflammation and an enlarged Pituitary Stalk called Lymphocytic Hypophysitis. Lymphocytic Hypophysitis (LH) is a condition which the Pituitary becomes infiltrated by lymphocytes resulting, in pituitary enlargement and impaired function. It most often occurs in women in late pregnancy or postpartum period but can also occur in pre or post-menpausal women and in men. During pregnancy the pituitary gland is already enlarged due to the hormones required for mother and baby. The exact cause is unknown but is thought to be an autoimmune related. The inflammation of the pituitary gland can cause intense headaches and visual disturbances if the nerve to the eyes is compressed. Lymphocytic Hypophysitis may cause pituitary hormone deficiencies or hormone excess leading to Hypopituitarism or Hyperpituitarism. Symptoms include headaches, nausea, vomiting, fatigue, loss of libido, irregular periods and dizziness. Based on this new diagnosis I was referred to an Endocrinologist and was able to get an appointment in January. My follow up next week (we're now in March) and I'll do a separate post on those visits and what's next!