Utah Woman's Decade-Long Struggle with Rare Disease Highlights Diagnostic Challenges

Misty Segrest's journey to diagnosis with systemic mastocytosis underscores the need for greater awareness and advanced technologies to identify uncommon conditions.

Published on Mar. 9, 2026

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For years, Misty Segrest of Salt Lake City lived with a frustrating mystery, believing her severe allergy-like symptoms were just severe allergies. It wasn't until after a decade-long journey that she was finally diagnosed with the rare condition of systemic mastocytosis, a disorder involving an overabundance of mast cells in the body. Her case highlights the critical challenge in modern medicine of recognizing and addressing uncommon diseases that often mimic more prevalent ailments.

Why it matters

Systemic mastocytosis affects an estimated 1 in 10,000 to 20,000 people, but its symptoms closely resemble those of allergies, making accurate diagnosis difficult. This delay in diagnosis is not unique to systemic mastocytosis, as many rare diseases face similar hurdles. Increased awareness among physicians and the integration of advanced technologies like artificial intelligence and machine learning could help identify potential cases of rare diseases that might otherwise be missed.

The details

Segrest's decade-long journey to diagnosis underscores the challenges in recognizing and addressing rare diseases. The symptoms of systemic mastocytosis - severe itching, flushing, hives, abdominal pain, diarrhea, and fatigue - closely mirror those of allergies, making it easy for the condition to be overlooked. Dr. Tsewang Tashi, a hematologist at Huntsman Cancer Institute, explains that the disease involves an overabundance of mast cells, a type of immune cell, and 'it's often overlooked, and that leads to delay in diagnosis.'

  • Misty Segrest has lived with the frustrating mystery of her symptoms for years.

The players

Misty Segrest

A resident of Salt Lake City who was diagnosed with the rare condition of systemic mastocytosis after a decade-long journey.

Dr. Tsewang Tashi

A hematologist at Huntsman Cancer Institute who explains that systemic mastocytosis involves an overabundance of mast cells, a type of immune cell, and is often overlooked, leading to delays in diagnosis.

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What they’re saying

“It's often overlooked, and that leads to delay in diagnosis.”

— Dr. Tsewang Tashi, Hematologist, Huntsman Cancer Institute

What’s next

Advances in artificial intelligence and machine learning are being developed to analyze patient data and help identify potential cases of rare diseases like systemic mastocytosis that might otherwise be missed. Targeted therapies are also offering new hope for more effective treatments in the future.

The takeaway

Misty Segrest's story highlights the critical need for greater awareness and the integration of advanced technologies to help identify rare diseases that often mimic more common conditions. By addressing the challenges in diagnosing uncommon disorders, the medical community can improve outcomes and quality of life for patients like Segrest.