The woman experienced agonizing stomach pain and both auditory and visual hallucinations

NEED TO KNOW

• A Texas mom says years of severe stomach pain and hallucinations were dismissed by doctors until a genetic test revealed she had a rare disorder, acute intermittent porphyria (AIP)
• She discovered the condition after reviewing her late grandmother’s medical records, which led to testing that confirmed she and several family members also have AIP
• Now undergoing treatment and avoiding triggers, she says she’s finally experiencing “good days” and is working toward a college degree

A woman’s debilitating symptoms were dismissed by her doctors for years until a genetic test finally proved she had a serious condition.

Tabatha Spacek of Baytown, Texas, said she first began noticing something wasn’t right with her body when she was just 15 years old, according to the Houston Chronicle.

Spacek, now 37, said she experienced pain in her abdomen so severe that she would double over and struggle to breathe. 

“I kept asking my mom when I was younger, ‘Does everyone feel like this all the time?’ It was horrible,” she recalled.

However, Spacek said her doctor offered no answers.

“Any time I went to the doctor, nobody knew what was going on,” Spacek said. “I just dealt with the pain.” 

She said the attacks struck about once a month, and she ultimately was forced to drop out of high school and work toward her GED from home.

The mom of five said the attacks grew both more frequent and severe as she got older, and also became accompanied by irritability, anxiety and mood swings. 

Spacek eventually decided to leave her job to focus on being a stay-at-home mom, but her symptoms — which she said were severely exacerbated by even a single glass of wine — became even more concerning.

Spacek said she began experiencing auditory hallucinations, like the sound of her family calling out to her or someone knocking on a window, and she sometimes saw a man standing in her closet. 

Spacek feared that she might have schizophrenia, but her doctors continued to dismiss her concerns — with some even suggesting she was faking her symptoms in order to get drugs.

“It makes you feel like you want to give up,” Spacek said while recalling that time of her life. “You want help, but none of the medical professionals are helping you. They’re just writing it off and ignoring you.” 

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Spacek said everything changed when her grandmother died of lung cancer in 2024. 

While looking through her grandmother’s old medical records, she discovered that she had been diagnosed with a rare genetic disorder called acute intermittent porphyria (AIP) — a condition that can cause many of the exact same symptoms Spacek had been experiencing for the past 20 years.

Genetic testing confirmed that Spacek did, in fact, have AIP, and further tests revealed that her mother, sister and three daughters had it as well. 

AIP is a rare disorder that causes a deficiency of the enzyme hydroxymethylbilane synthase, which can cause a build up of toxins in the body, per the American Porphyria Foundation (APF). 

Many people with AIP never experience symptoms; however, among those who do, most are women, and symptoms typically begin around puberty due to hormonal changes. Symptoms can be life-threatening in some patients, per APF.

Spacek was officially diagnosed in December 2024, but she said it took her several months to locate a specialist who actually knew how to treat the disease.

She now avoids common triggers, like alcohol, and receives monthly injections of a specialized medication to help reduce the buildup of toxins in her body and keep her symptoms in check.

Spacek said that her treatment means she now has three or four “good days” a week, and she’s well enough to take college classes online and work towards a degree.

“I can’t really complain, because at least I’m having a few good days every week. It’s better than none,” she said.

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