In college, I did not feel good at all in my body. I knew something was wrong, and I wanted to get to the bottom of it.
I would take a quick trip to the grocery store, leave exhausted, and come home to take a three-hour nap. I’d do my homework for five hours straight, but I’d have complete brain fog by the end of it. My digestion was off, too—I could barely eat anything without feeling bloated, let alone dining hall food, eating out at restaurants, and late-night pizza on campus.
First, I saw a general practitioner during college and I explained that the smallest tasks were making me extremely tired. I wanted to do normal things like go out to eat, attend classes, and hang out with friends (without taking time for naps in between).
One doctor told me that “every college student” was that tired, so I figured I was just doing too much and spreading myself thin. Still, something felt off. I had blood tests done and they indicated that I had low platelet counts. At the time, doctors dismissed the results as being “low but not that low” and said they’d check my numbers again in a year, but they should have flagged and investigated the results more thoroughly. (Year after year, I continued to have a low platelet count).
After college, I saw a GI specialist who said I should “chew more slowly.”
When I moved to New York City post-graduation, the constant stress of the city environment on my body exacerbated my gut issues. My stomach was rock hard, bloated, and swollen, and I had tons of burping, gas, and irritation after eating. The first gastroenterologist I saw told me that I likely had aerophagia, or “air swallowing,” which can happen when you don’t chew food enough and too much air goes into the digestive system.
The gastro told me to take my time eating and to have smaller meals, then take antacids. There were no tests or MRIs, and she didn’t give me any kind of prescription. At the time, I was a fast eater and could probably afford to chew more slowly, but I knew the diagnosis didn’t encompass even close to all of the symptoms I was having.
I switched GI specialists and was tested for small intestinal bacterial overgrowth (SIBO), which came back positive. This new gastroenterologist treated me for SIBO with a round of antibiotic medication. When that didn’t work and I was still having symptoms, the doctor assumed I had irritable bowel syndrome (IBS) and decided to put me on a medication called Linzess, a daily pill for IBS-C, a specific type of IBS involving chronic constipation and abdominal pain.
When I returned to the same doctor a few months later for a check-in and more testing, the results indicated that I had SIBO again and needed to go back on antibiotics. Typically, when bacterial overgrowth returns like that, there is a root cause, I was told. But my doctor didn’t really explore that potential cause. The evaluation was based on hearing my description of the symptoms and the doctor touching my stomach—not on a CT scan, MRI, or ultrasound. At the time, I didn’t know to ask for other tests, so I left with a prescription and stayed on the Linzess to treat the “IBS.”
One night, I had severe stomach pains after eating at a restaurant.
While dealing with stomach issues, I was also a restaurant blogger and would go out to eat about three times a week. One night, I ate dinner at a restaurant I had been to many times. But by the end of the meal, I couldn’t swallow or breathe properly, and my stomach was so distended that I spent the night laying down with a heating pad on. After that, I was scared to go out to eat, because I had no idea what would set off my stomach at any given time.
The next day, I saw a new gastroenterologist. The GI doctor felt my stomach, which was rock hard, so she thought I had stuck poop in my intestines from constipation. She sent me for a CT scan, which was the first time I ever got any kind of visual testing. After over four years of seeking answers, this was the first doctor who I felt actually listened to me about my symptoms.
The CT scan showed that my spleen was six times larger than its regular size. (For reference, the spleen usually sits underneath the rib cage—mine had expanded all the way down to my belly button.) It also showed that my liver was enlarged by twice the size it should be and was pushing on my other organs. Concerned by the swelling of my organs, which was definitely not normal and could be a red flag of lymphoma, the gastroenterologist urgently sent me to a hematologist who was able to see me within 24 hours.
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Another specialist tested me for lymphoma.
Once I saw the hematologist, I went through three straight weeks of testing. The hematology specialist conducted pet scans, CT scans, and a bone marrow biopsy (during which they chip a piece of bone marrow off of your back while you’re awake—it involves a huge needle, too).
The hematologist felt my lymph nodes and didn’t think I had lymphoma like the other doctor did. However, he questioned if it was a rare genetic condition called Gaucher disease, which involves a buildup of fatty cells in the liver, spleen, and occasionally the bone marrow. (This happens because there isn’t enough of a particular enzyme that can help break down the fats.) The disease only affects about six thousand people in the U.S. It tends to run in Ashkenazi Jewish families like mine (it typically occurs in about 1 in 50,000 people, but occurs in nearly 1 in 500 people with Ashkenazi Jewish heritage). The doctor had familiarity with it because he had seen this disease before and had also worked at a New York-based hospital with this population.
The hematology specialist officially diagnosed me with Gaucher disease.
The bone marrow biopsy confirmed my diagnosis of Gaucher disease—given that it’s genetic, it showed up in my DNA on the test. I was 26, and it was late to be diagnosed with a genetic disease, (many people start with symptoms in infancy or early childhood, though some people receive the diagnosis in adulthood), so I wanted to get a second opinion from a Gaucher specialist. It turns out there were only two doctors in New York City who specialize in the condition.
A specialist visit included a DNA blood test, which doubly confirmed that I had the genes for Gaucher disease. My immediate family members did genetic testing as well. It was a surprise to find out that both my parents are carriers of the mutation for the disease, but neither of them actually have the condition. My sister also tested, but she doesn’t have the carrier gene.
My case of Gaucher disease was different from anything the specialist had ever seen. It turned out my enlarged organs were squeezing my whole digestive tract, which was causing all of the painful GI symptoms. Typically, if the condition is in your body long enough, it can spread to your bones, which often causes bone pain or bone fractures. (I never broke a bone in my life).
Though this was all uncharted territory for me, and I had never heard of this condition before my diagnosis, there was a sense of relief that I finally got an answer. I needed the validation that how I was feeling was not in my head and that there was really something going on with my body that was not right.
Eventually, when I did a bone density scan, the doctors saw that I also have osteoporosis. It wasn’t causing any pain or fractures, likely because it hadn’t gotten too severe yet, and I wasn’t doing activities that might lead to broken bones. Doctors explained to me how lucky I was: My spleen was so big at the time of my diagnosis that if I had fallen or been hit in that spot, my spleen could have ruptured.
Jamie received her first hospital infusion treatment in 2018.
Finally, I started a special enzyme treatment to help my symptoms.
I started treatment immediately after my diagnosis. I was lucky to work with a top Gaucher specialist and got into a clinical trial for the first two years of my treatment. This involved enzyme replacement therapy IV infusions, which helped me get a version of the enzyme that I’m missing due to Gaucher. (This helps me better process fat so that it doesn’t build up in my spleen, liver, and bones.) The enzyme treatment drug, VPRIV, was not a brand new drug, but the trial was testing whether or not it could improve bone density within two years. I was the first person out of my doctor’s patients to be approved for it.
The IV treatment takes place every two to three weeks, and at first, it took some trial and error to figure out the rate at which I needed the infusion. For example, my first infusion went through my veins so quickly I felt like I was being electrocuted. After that, my specialist slowed the speed and I took some Tylenol, Benadryl, and Zantac before to avoid any extreme reactions.
Slowly, after doing infusions for a year, I was eventually able to start doing nurse-supervised infusions at home, and I later weaned off the OTC meds. Now I have the routine down—I apply lidocaine to numb my arm about half an hour before my nurse arrives, so that when the needle is in for an hour and a half, I don’t feel it as much. The medication is just one part of my Gaucher journey.
Here, Jamie receives an at-home infusion treatment.
Eating minimally-processed foods has helped me feel better.
After my diagnosis, I decided to move away from eating inflammatory foods like gluten, dairy, soy, and alcoholic drinks to help repair the damage in my gut. I could tell that garlic and onions were also triggering my GI symptoms, so I avoided those for about two years and focused on eating as many whole foods as possible. Now, I’m able to eat everything and consume dairy and gluten in moderation. The dietary changes I made felt like they expedited my healing.
After about two years of medication and dietary changes, I started waking up feeling more energized, refreshed, and without brain fog, gas, and a bloated gut. Today, I still receive regular infusion treatments to keep Gaucher symptoms at bay, and I will need this medication for the rest of my life (though some researchers are looking into running clinical trials using gene therapy as a treatment or prevention for Gaucher). Today, I feel so much better that sometimes, I forget I have a chronic illness until treatment day.
Jamie became a health coach and created the platform Girls Who Eat, which helps women understand the ingredients in their products and take their nutrition into their own hands.
In addition to medication, going to therapy has helped me regulate my nervous system and process everything that I have been through, including medical gaslighting. I’ve become more comfortable trusting and advocating for myself, especially in doctors’ offices. Now, if I don’t feel like a doctor is listening to me, I know right away to switch to someone who is looking more at the full picture of my health.
I also lean on my support system of other people with chronic illnesses, and I attended a Gaucher-specific conference. A friend I met at a conference even helped me find a new specialist when I relocated from New York City to Austin, Texas. People in the chronic illness community have also shared resources that help cover transportation, medical supplies, nursing bills, and anything else insurance might not cover.
The convergence of my chronic illness diagnosis, food, and community led me to what I’m doing now. I became a certified health coach in 2019, which helped me better understand the ingredients in food products. I created a website and social media platform called Girls Who Eat, and my goal is to deliver education about ingredients that help people, especially those with chronic illnesses, understand what’s in their products so they can take their health into their own hands.
My favorite part of my work is finding new products to share with my audience. My health journey has come full circle. Now, my grocery store trips are longer than ever, and I no longer need a long nap afterward.
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