Although my medical journey started young, my diagnostic journey began 9 years ago. I am 53 years of age and was diagnosed with systemic mastocytosis (SM) a few months ago. I have had stomach issues my entire life. I would be hysterical and clutching my fists in bouts of pain. The pediatrician prescribed medication for the pain and noted gas issues, but it was beyond that. 

Being diagnosed with Graves disease when 16 years of age, an autonomic thyroid disorder that produces too much thyroid hormone, gave the doctors a culprit for any symptoms I went to see them about. No matter the issue, it was “thyroid related.” This made my SM a hundred times harder to diagnose.

A decade ago, my life fell apart. During this time, I was told by doctors that my symptoms were due to the stresses of a divorce and all that comes with that life change. Life was at that time overwhelming. A year later, I moved into a condo, fixed it up and made it home. I started a new job with a company I had worked for previously and was on the uphill of rebuilding my life. I started a friendship with my now husband, and life was good. 

However, I would wake up for work at 5 in the morning feeling nauseated, and even puking a few times a month. I shrugged it off. But the few times a month turned into a few times a week, to eventually daily. I would be exhausted and fall asleep on the couch as soon as I got comfortable.

Read about therapies for SM

I didn’t mention what was happening to anyone the first year or so; I thought it was just from the past stresses I had dealt with and the long days I had working two hours from home. 

Even though things were good in my life, my health wasn’t. I continued getting sick and realized I was getting sick more often and vomiting almost daily. My heart was racing, I couldn’t sleep, and I felt that when I ate a few bites, I was full. I went to my gastroenterologist, whom I met 4 years earlier when I was hospitalized for observation and diagnosed with a hiatal hernia.

The doctor examined me and said I had a hernia, thyroid issues, and acid reflux. He gave me a few prescriptions and sent me on my way. As time passed, I felt a sudden fear that I was going to die. I got all my affairs in order and had all my account numbers, insurance policies, and notes in a manila envelope should something happen to me.

I decided to switch my endocrinologist and visited Shands Hospital in Gainesville, Florida. This is where I found out I was in a thyroid storm. It turns out my total thyroidectomy at age 17 was not total. A small amount of thyroid tissue was left and grew back on the left side with a vengeance. At 46 years of age, I had my left thyroid lobe removed and hoped my medical issues and vomiting would stop.

Fast forward 6 months. My thyroid levels were normal again, but I was vomiting daily, couldn’t eat more than six bites of food, losing 3-5 lbs a week, and I had lost my vision while driving, got light-headed, had low blood pressure episodes, my senses were off the charts, lights, sounds, vibrations, and smell. My joints ached, my bones hurt, and my feet and hands swelled. I had diagnoses of migraines, ocular migraines, and abdominal migraines, yet no one knew why.

During an endoscopy, my blood pressure was extremely low. I still cannot remember the entire conversation, but I was told I might not have the procedure because my bottom number was 48. The anesthesiologist told me, “any issues, we are stopping the procedure.” All went well, and during my follow-up visit, I was seen by a different doctor than the one who ordered the endoscopy. 

Read more about the prognosis for SM

He explained that he specializes in autonomic disorders, studied my chart, and found that I may have postural orthostatic tachycardia syndrome (POTS). He explained the autonomic system to me and said I needed to change course and try to find out what was causing all my symptoms. I visited the Mayo Clinic in Jacksonville, Florida. Several doctors saw me but no diagnosis. I went back to my PCP at Shands Hospital and broke down crying. Even though she couldn’t figure out what was wrong, she needed to help me find doctors who could help me. With her help, I met with dozens of doctors, but no one could pinpoint the problem. 

It was noted that I had a mast cell disorder. I was told to take H1 and H2 antihistamines. I went out of state and saw an immunologist specializing in mast cell issues. He read my journals, my letter to an organization that sends symptoms and medical records to several doctors in this organization to help figure out what is wrong, and my medical history. He ran some tests and had me return for a follow-up visit in 3 days. 

He suspected I had SM. He had me see an oncologist who ran several tests. Unfortunately, I do not present SM normally, so the bone marrow biopsy came back normal and other tests he was sure would show an abnormal result came back normal. Based on tests ran on tissue biopsies taken from an endoscopy. 

The oncologist determined that I have SM based on my stomach and small bowel results. I kept journals of my daily struggles and symptoms and would bring them to all my doctors visits, yet only a single doctor out of dozens of doctors I saw took the time to read them. I’m forever thankful for that one.