Help Solving A Personal Medical Mystery

It started with bad sinus infections, then regular bouts of bronchitis, a seasonal cycle that gradually worsened over three decades.

About ten years ago, this cycle evolved into pneumonia, putting Claudia, now a 67-year-old mother and grandmother in Seattle, in the ICU for a few days.

“I understand the signs now, but the first time it happened, I had this pain around the chest, a bad cough and cold,” she said. “I felt uncomfortable.”

 

A Medical Mystery

Doctors thought she might be having a heart attack, but X-rays of her lungs indicated pneumonia. That was about ten years ago, and now Claudia can discern the pattern as the illness comes on, which often starts with cold symptoms.

But even after that, she simply didn’t know why it was happening to her. Why was she so susceptible to sinus infections, bronchitis, and, worst of all, pneumonia? Why did she have trouble breathing sometimes? And neither did her doctors.

In her 30s, when she first started having difficulty catching her breath, she went to a pulmonary specialist who did a battery of tests. One of her doctors suggested that she had exercise-induced asthma. He gave her an inhaler. But the inhaler never seemed to help. Another doctor said that perhaps Claudia wasn’t doing enough exercise. She felt some of those who were treating her thought it was all in her head. Although she has exercised regularly since she was in her early 20s, she was told that perhaps she wasn’t exercising enough.

But not long ago Claudia and her doctor were able to solve the decades-long medical mystery with a little help from her 23andMe results.

“So, I’ve probably had this all along,” she said. “But if it hadn’t been for 23andMe, I would still be floundering.”

An Alpha

Claudia is an “Alpha,” as people with her condition sometimes call themselves. She has alpha-1 antitrypsin deficiency (AATD), a genetic disease that affects an estimated 120,000 Americans, but only about six percent of those with AATD are correctly diagnosed. The condition decreases levels of the alpha-1 antitrypsin protein leading to damage to the lungs and liver.

23andMe’s Alpha-1 Antitrypsin Deficiency Genetic Health Risk Report* looks at the two most common variants linked to this deficiency, the PI*Z and PI*S variants of the SERPINA1 gene. Claudia saw in her report that she had two copies of the PI*Z variant putting her at an increased risk of developing the lung and liver disease associated with AATD.

But when she first saw this, it didn’t register. She’d never heard of the condition before, and even though she saw that it could impact a person’s lungs, she thought that if it were an issue, her doctor would have noted it.

Meanwhile, various doctors tried to figure out what was going on. She had taken the advice a nurse had given her during another pneumonia treatment, telling her there was likely something causing this recurrent condition. She went through a battery of tests and consulted with a pulmonologist, who couldn’t pinpoint what was wrong.

23andMe’s Report

During this period of frustration, she thought back on the 23andMe report, noting that one of her symptoms, shortness of breath, was included in the list of symptoms associated with AATD. She showed her doctor the report and asked if he could test her for the condition. The test results came back that she did indeed have AATD. After all those years of not knowing, now she understood.

“Although there is no cure, I now know why I get out of breath and bouts of pneumonia,” Claudia said.

Taking Action

Beyond the respiratory symptoms, AATD can also damage the liver. Claudia learned from her doctor that her liver levels were high. It was a surprise to her, so now her liver function is regularly checked.

She’s under the care of a liver specialist and a pulmonologist at the University of Washington. They are monitoring her levels. Claudia takes vitamins to keep her immune system up, and doctors prescribed medication to help prevent infections in her lungs and bronchial tubes. She takes care of herself.

Using resources from Alpha-1 Foundation, she has identified two AATD specialists, one in Portland, Oregon, and the other in Sacramento, CA. Claudia is also in the process of trying to get her kids and grandkids tested to help potentially save them the years of struggling that she had to endure.

But for her 23andMe report, she said, “I would never have discovered this.”


*The 23andMe PGS test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva for the purpose of reporting and interpreting genetic health risks. It is not intended to diagnose any disease. Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. Each genetic health risk report describes if a person has variants associated with a higher risk of developing a disease, but does not describe a person’s overall risk of developing the disease. The test is not intended to tell you anything about your current state of health, or to be used to make medical decisions, including whether or not you should take a medication, how much of a medication you should take, or determine any treatment. The Alpha-1 Antitrypsin (AAT) Deficiency genetic health risk report is indicated for reporting of the PI*Z and PI*S variants in the SERPINA1 gene and describes if a person has variants associated with AAT deficiency and a higher risk for lung and liver disease. The variants included in this report are most common and best studied in people of European descent.