After decades of mystery pain, UTHealth Houston physician delivers a diagnosis

Tabatha and her family are now managing their diagnoses, and they hope to raise awareness about the condition. (Photo by Archie Spacek)

Tabatha Spacek, 37, initially brushed off her labor-like abdominal pain as the result of smoking and drinking. But after her grandmother died in 2024 with a rare genetic condition called porphyria, she began to question whether something more serious was behind her own symptoms.

For decades, Tabatha experienced unexplained pain that would paralyze her to the point where she couldn’t walk or breathe comfortably. Eventually, she dropped out of school. As she got older, she made a habit of drinking a glass of wine with dinner and smoking cigarettes. Unaware that these habits were worsening her symptoms, Tabatha began experiencing hallucinations. 

“When my grandma died in 2024, it terrified me. I started paying more attention to my body, and everything I was doing was a trigger I wasn't aware of,” she said,

Before finding help at UTHealth Houston, Tabatha saw every doctor imaginable but no one could figure out why she had pain. One doctor diagnosed her with gastritis, but she knew there was more to her pains. With no answers, Tabatha looked through her late grandmother's medical records for a clue.

“I remember her talking about her porphyria; she would joke around and say she was a vampire, but I never knew it was hereditary,” she said.

Porphyria encompasses a group of rare hereditary disorders that result in defects in the heme synthesis pathway. Heme is an essential compound in our body, responsible for muscle metabolism as well as transporting and managing oxygen from the lungs to tissues. Symptoms of porphyria can range from persistent abdominal pain, muscle weakness, and chest, neck, or back pain to focal neurological deficits, psychiatric symptoms, liver disease, and photosensitivity, which describes sensitivity to light and blistering on sun-exposed areas. Her grandmother had light sensitivity, and her skin blistered in the sun—she attributed that to feeling “like a vampire.”

She found a local hematologist who could test for porphyria. Her primary care physician sent over everything she had on Tabatha's symptoms. On Christmas Eve, she received the results and was not surprised to see “positive” on the screen. She had the answers she was looking for, but no one to help her.

“I had already been doing my research, so I knew the treatments I needed, but no one had heard of this disease,” she said. “I called all the hospitals in Houston looking for someone, anyone who could treat me, but no one knew what I was talking about. I couldn't get a doctor to help me.”

Not only did she get the answers she was searching half of her life for, but Tabatha finished school, started taking college classes, and even had her family members tested for porphyria. (Photo by Archie Spacek)

Tabatha saw a neurologist who referred her to a psychiatrist.

“I felt crazy because I had the bloodwork, I had proof that I had this rare disorder,” she said. “It was exhausting; it took a year to find someone who would listen to me.”

Then in early 2025, she found Akshata Moghe, MD, PhD, assistant professor of gastroenterology, hepatology, and nutrition in the Department of Internal Medicine at McGovern Medical School at UTHealth Houston.

“I reviewed her tests and found she definitely had porphyria. We gave her hemin, which stopped her acute attacks, but she still had lingering symptoms. So we began givosiran infusions at our infusion center,” Moghe said. 

Hemin treats porphyria by giving the body a quick dose of usable heme, which shuts down the overproduction of toxic porphyrin precursors that cause symptoms. Givosiran infusions prevent porphyria symptoms by turning down the liver’s overactive heme production pathway.

After she began treatment, she felt a relief not only in her pain, but in her life.

Not only did she get the answers she was searching half of her life for, but Tabatha finished school, started taking college classes, and even had her family members tested for porphyria. 

“They all tested positive, even my mother,” she said. “I need everyone to know this is real, we're not crazy. I'm so thankful doctor Moghe believed me.”

Moghe says awareness is key for patients with porphyria.

“Physican awareness about the disease is one thing,” Moghe said. “Not thinking about it often enough to adequately test for it is definitely a barrier to diagnosing early. Because if we only tested more often, maybe it's not as rare as we think.”

Tabatha and her family are now managing their diagnoses, and they hope to raise awareness about the condition. 

“I’m actually living my life again. Before, I could barely get off the couch,” she said.

Tabatha seeks long-term treatment with Moghe but still faces financial barriers and accessibility challenges for porphyria testing and treatment.