Tabatha Spacek is shown in Baytown Thursday, April 23, 2026. After suffering symptoms for two decades without knowing why, she learned she had a rare genetic disorder.
Melissa Phillip/Houston Chronicle
Tabatha Spacek went more than two decades thinking it was normal to feel terrible.
The Baytown resident had been experiencing intermittent bouts of severe abdominal pain since she was a teenager. She struggled to concentrate and frequently dealt with anxiety and mood swings. As she got older, having a glass of wine with dinner could lead to hearing voices and spending the next day sick in bed.
“I kept asking my mom when I was younger, ‘Does everyone feel like this all the time?’” Spacek, now 37, said. “It was horrible.”
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Spacek spent more than 20 years in and out of emergency rooms due to the pain, but doctors struggled to identify a reason for her symptoms. Some considered problems with her liver or colon, or a mental illness such as schizophrenia. Others dismissed her symptoms as drug-seeking behavior and suggested she was trying to dupe them into writing her a prescription for pain medication.
Spacek was determined to find an answer after her grandmother died of lung cancer in late 2024. She set up an appointment with her doctor and scheduled a colonoscopy, a CT scan and an MRI, believing she might have a chronic medical condition like cancer or multiple sclerosis.
She also scoured her grandmother’s medical records in search of clues that might point to a genetic disorder. Her breakthrough came when she discovered a diagnosis that her grandmother had mentioned in the past, often joking that it made her a vampire. A Google search revealed that it explained all the symptoms that had been plaguing Spacek for decades.
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“I didn’t know it was hereditary,” Spacek said. “I had no idea that any of (my family) could have it.”
Debilitating symptoms
Spacek was 15 years old when she first experienced pain in her abdomen that was so severe she would double over and struggle to breathe.
The attacks struck at least once a month and were often so painful that she needed to stay home from high school. When she was able to attend class, she struggled to concentrate. So she dropped out and completed a GED diploma.
“Any time I went to the doctor, nobody knew what was going on,” Spacek said. “I just dealt with the pain.”
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Her symptoms got worse — and the attacks became more frequent — as she grew older. She used to smoke cigarettes despite the fact they made her feel terrible. Having a cocktail on vacation or a mimosa at brunch with friends was a risk because it could lead to an attack the next day.
Even stressors that were an inherent part of adult life, such as her job as an operations manager or being a mother to five children, could trigger debilitating symptoms. And those symptoms were often accompanied by mood swings, irritability and anxiety.
Her husband, Archie Spacek, struggled with seeing her in so much pain all the time and being unable to do anything to help.
“I wished I could take all of her pain away myself,” he said. “I would have done it in a heartbeat.”
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Tabatha Spacek has lunch at Pho Em, one of her favorite restaurants, in Baytown Thursday, April 23, 2026. After suffering symptoms for two decades without knowing why, she learned she had a rare genetic disorder.
Melissa Phillip/Houston Chronicle
‘You want to give up’
Spacek’s symptoms eventually became so debilitating that she quit her job to focus on being a stay-at-home mother. But the change in her lifestyle also made her more likely to indulge in a glass of wine with dinner, which further exacerbated her symptoms.
She would often find herself in bed experiencing auditory hallucinations, such as her husband or children calling to her or the sound of someone knocking on a window. The hallucinations sometimes became visual, like when she told her husband that she kept seeing a man standing in their closet.
She began to think she might have schizophrenia, but she had long since given up trying to find an explanation for her symptoms. The scores of medical tests she’d taken over the years had failed to provide an answer. Doctors sometimes suggested the pain was in her head or that she was faking her symptoms to get a prescription for pain medication.
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“It makes you feel like you want to give up,” Spacek said. “You want help, but none of the medical professionals are helping you. They’re just writing it off and ignoring you.”
Spacek was determined to try one more time after her grandmother died from lung cancer in 2024. She pored over her grandmother’s medical records and stumbled upon a diagnosis that she recalled her grandmother mentioning over the years. Spacek asked her doctor to test her for the same disorder.
The results confirmed the diagnosis of acute intermittent porphyria, a rare genetic disorder. Additional testing revealed her mother, sister and three daughters had it, too.
Finding an answer
Spacek’s long journey to finding a diagnosis is common for people with porphyria, which is notoriously difficult to diagnose. Patients are typically diagnosed 10 to 15 years after they begin to experience symptoms, said Dr. Akshata Moghe, an assistant professor and hepatologist at the University of Texas Health Science Center at Houston.
Porphyria is caused by a malfunction in the way the body produces heme, a molecule that carries oxygen to tissues throughout the body and plays a role in other essential functions. The malfunction causes organic compounds known as porphyrins or related precursor chemicals to build up in the body, which can damage the nervous system and skin.
There are eight types of porphyria, with all of them afflicting a combined 200,000 patients in the United States. Spacek has the most common of the four “acute” types that cause debilitating attacks, affecting one in 20,000, according to the American Porphyria Foundation.
Up to 90% of patients who inherit acute intermittent porphyria will never experience symptoms during their lives, Moghe said. The patients who do have symptoms are more likely to be women because hormones such as progesterone, which helps to regulate the menstrual cycle, can trigger attacks.
Spacek’s grandmother connected the disease to vampires because some types of porphyria cause symptoms like extreme sensitivity to sunlight and skin blisters, but the type Spacek has is not associated with those symptoms, Moghe said.
Porphyria is tricky to diagnose because it’s identified through a urine sample that needs to be taken during or immediately after an attack. The sample also needs to be shielded from light and kept on ice while it’s being transported to a lab, Moghe said.
“It feels like that’s a barrier for a lot of doctors,” she said. “They feel it’s too much effort for what might be a very rare condition, so they just don’t test for it.”
Managing her symptoms
Delays in finding a diagnosis can have long-term consequences for patients, Moghe said. Without treatment, porphyria can lead to chronic pain, kidney disease or an increased risk for liver damage and cancer.
It can also be traumatizing for patients who spend years without an explanation for their debilitating symptoms, Moghe said.
“You don’t know what is wrong, and you have to convince every doctor you see that your symptoms are real,” Moghe said. “It’s exhausting.”
Spacek got the test results that confirmed her diagnosis on Christmas Eve in 2024, but it took her months to find a doctor who knew how to treat such a rare disorder.
She eventually found Moghe, who previously treated porphyria at the University of Texas Medical Branch in Galveston. Moghe’s mentor, Dr. Karl Anderson, is the director of the UTMB Health Porphyria Center and one of the world’s leading experts on the disorder.
Patients who experience mild attacks can often avoid them altogether by avoiding triggers like alcohol or smoking. Some patients can also stop an attack in its tracks by eating foods that are high in carbohydrates, Moghe said.
Spacek’s attacks are severe enough to need treatment from monthly injections of givosiran, a medication that reduces the amount of toxins that build up in her body. Moghe also recommended heme therapy, in which heme is delivered directly to the liver to make up for the deficiency.
Spacek still experiences chronic pain because of the attacks that went unmanaged for so long, but the givosiran injections have helped to reduce the severity of her symptoms.
“It’s almost like a night and day difference,” her husband, Archie Spacek, said. “Even though it’s still bad, it’s not as bad as it was.”
Awareness for a rare diagnosis
Moghe said Spacek is an example of why doctors should not dismiss the possibility of porphyria if a patient is exhibiting symptoms that could match the diagnosis. The disorder is rare, but she believes many cases are missed because doctors don’t test for it.
“It’s not as rare as you might think,” Moghe said.
Spacek is relieved to have a diagnosis, but she wishes she knew sooner so she could have avoided triggers for many of the attacks she experienced.
She also carries lingering regrets that her three teenage daughters inherited the disorder, and that her family had to experience the mood swings caused by her attacks.
However, she’s now having three or four “good days” each week, compared to none in the past. She’s currently taking online college courses with the goal of earning a degree in cancer data management, partly because it’s a job that can be done remotely.
“I can’t really complain, because at least I’m having a few good days every week,” Spacek said. “It’s better than none.”