Chronic stomach pain leads to a rare disease diagnosis

Stomach pain, nausea and brain fog can be uncomfortable to experience. Imagine living with these symptoms every day without knowing their cause or being able to manage and rid yourself of them.

This was Aaron’s experience; he spent decades living with debilitating, daily pain — sometimes so severe he needed to be hospitalized — before finally receiving an accurate medical diagnosis. Now, Aaron knows that he is living with familial chylomicronemia syndrome, or FCS, which is a rare, genetic condition that can lead to potentially life-threatening acute pancreatitis (painful inflammation of the pancreas).

Journey to diagnosis

“As a young kid, I would battle stomach pain so intense that it would cause me to miss school for weeks at a time,” Aaron shares. He saw doctor after doctor and was repeatedly told to “eat better and exercise more.”

“I tried five different types of diets and kept food journals to show my doctors I was following their advice. But I still found no relief — I’d have excruciating, crippling pain for four or five straight days over and over again with no relief.” This lasted for decades.

Aaron finally received an answer at age 36 when he was diagnosed with FCS.

Understanding FCS

During a doctor’s appointment with a specialist, Aaron was told his triglyceride levels — a type of fat that the body uses as a source of energy — had been over 1,200 mg/dL since his childhood. While healthy levels for adults are typically below 150 mg/dL, levels higher than 500 mg/dL are a sign of a common condition called severe hypertriglyceridemia (sHTG), which can lead to health complications such as damage to the pancreas.

Triglyceride levels of more than 880 mg/dL — like Aaron experiences — may be an indication of FCS, a rare, genetic form of sHTG. In addition to the risk of potentially life-threatening acute pancreatitis, people living with FCS also experience chronic health issues such as fatigue, brain fog and severe, recurrent abdominal pain.

After 36 years of struggle, Aaron’s diagnosis helped him make sense of his lifelong symptoms. “The first thing I felt upon receiving my diagnosis was validation that my pain had a real, medical cause.”

Living with FCS

FCS can be associated with physical, mental, emotional and financial burdens, which can cause people to feel overwhelmed and have a significant impact on their quality of life. “On my best days, I feel like I have the flu — body aches, nausea, diarrhea, headache and a foggy brain. On my worst days, I'm hospitalized for two to three weeks with pancreatitis,” explains Aaron.

To help manage symptoms, people living with FCS must adhere to an extremely strict diet. This involves limiting daily fat intake to less than 15 to 20 grams — that’s roughly equal to just one tablespoon of olive oil per day. “I’ve had to learn to adjust my social life so that events don’t always revolve around food, and the unfortunate reality is that I just may not be able to participate,” says Aaron.

Raising awareness and aiding in earlier diagnosis of this rare disease is important to Aaron. His hope for the future is that people living with FCS don’t feel the loneliness he lived with for too long. “I’ve made a conscious decision to not let having FCS control my outlook on life. I choose to be happy, and my hope in sharing my story is to normalize FCS so that the next person may not have to wait 36 years to find a diagnosis and won’t feel so alone.”

The article shares the story of one person and may not be representative of all patient journeys. If you have questions about your health, speak with your doctor. To learn more about FCS and helpful resources, including taking a signs and symptoms quiz that can provide useful information to guide your discussion with a doctor, visit www.KnowYourTGs.com.

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