For Jessica Diaz, a stroke at 36 didn’t just alter the course of her life; it’s driven her to help other women who might unknowingly be at risk for the same thing.
You’ve probably heard the maxim that “knowledge is power,” but what is the opposite of that?
It disturbed Jessica that so many people didn’t even know they might carry the risk that led to her brush with death. It bothered her that people didn’t realize that either a direct-to-consumer genetic test or blood test could easily detect it. Those tests offer people a chance to take steps to lower their risk. So, Jessica went on a mission to bring that knowledge to others.
Factor V Leiden
It started with her health scare nine years ago. A massive headache, and partial paralysis along her left side, led her husband to take her to the emergency room. Lying on a hospital bed after several tests, she listened in disbelief as doctors told her the diagnosis.
She’d had a stroke.
That didn’t compute for the then 36-year-old mother of two young children. Jessica didn’t even know that people her age could have a stroke. Not only that, but she was the model of health, a Barre class instructor, and a yoga enthusiast, so it was hard to accept what she was hearing.
Testing at the hospital revealed she had a genetic variant called Factor V Leiden, which put her at a higher risk for blood clots.
“I’d never even heard of it before,” she said.
Harmful Blood Clots
She’s not alone. Most people have never heard of it, but the condition is not uncommon. More than five percent of the population in the United States have Factor V Leiden and the variant is most common in people of Northern European ancestry. Having it increases the risk of forming harmful blood clots which can develop in the legs and are known as deep vein thromboses (DVTs). The clots can also travel to the lungs and become pulmonary embolisms. Other factors might also increase risk: breaking a hip or leg; being immobilized for a very long time while lying in a hospital bed or traveling on a very long flight; pregnancy; and taking birth control pills.
Again, Jessica knew none of this.
“How is it possible that women don’t know this?” she thought.
In her case, the doctors believed that her having Factor V Leiden in combination with a previously undiagnosed congenital heart defect — a small hole in her heart known as a patent foramen ovale — ultimately led to the stroke. The clot had formed in her heart and then traveled to her brain.
Jessica was lucky to have only spent a week in the hospital. Her recovery was relatively fast. She didn’t end up with long-term brain damage or paralysis, as can happen with other stroke survivors. About six months after the stroke, she underwent 10-hour open-heart surgery to repair the hole in her heart. Now nine years on, she’s healthy and fit. She also knows how lucky she is. Lucky that she got to the hospital within the critical early hours of a stroke. Lucky that she was near a good hospital, where they’re renowned for their treatment of strokes. And lucky that her insurance covered the costs.
The experience changed how she approached her health. She eats a little differently now, stays hydrated, and knows to avoid estrogen-containing oral contraception and hormone therapies.
Educating Herself and Others
But after the stroke, she also began to educate herself. The experience didn’t just change the trajectory of her life, it motivated her to help change the fate of others. Genetics played a role in her risk, so she alerted her sister, who was pregnant at the time. Her sister tested, and she too had Factor V Leiden. Her sister was put on a blood thinner through the pregnancy to lower her risk for a clot or miscarriage.
And Jessica began to do even more. She couldn’t get the idea out of her head about how few women knew of this risk. She became an ambassador for the American Heart and Stroke Association. Then she began what turned into a multi-year effort to get legislation passed in Massachusetts to have better screening for women going on birth control.
“I wanted to ensure that women have all the available information before choosing oral contraceptives,” she said.
She’s written about her experience and talks about it to other women.
This past April, at the beach on vacation with her family in the Caribbean, she began talking to a woman named Tarin Jackson. They learned they live just two miles from each other in Boston but had never met before. Tarin asked Jessica what she does.
“I shared that I was an ambassador for the American Heart Association and that I was working on a bill for the last six years to ask health care providers for better screening for Factor V Leiden,” Jessica said.
Tarin immediately asked, “What’s Factor V Leiden?”
As Jessica began to explain it, Tarin blurted out.
“Wait,” she said, adding that she might have the variant.
She grabbed her phone and then opened up her 23andMe Hereditary Thrombophilia Genetic Health Risk report. It reports on the Factor V Leiden variant and another variant in the F2 gene associated with a higher likelihood of developing harmful blood clots.*
“I opened the report and said, ‘… Oh My God,'” Tarin said recently.
She indeed had the variant. It was important information because Tarin had recently restarted taking oral contraception. After talking with Jessica, Tarin talked first to her primary care doctor and then gynecologists.
Tarin did follow-up testing confirming she had Factor V Leiden. Her doctor recommended she stop taking her birth control pill. And then Tarin reached out to family, trying to find out if they had any history of blood clotting. It turns out her father had four blood clots following a surgical procedure after a bike accident.
Seeing how this information could empower someone like Tarin to lower her risk and take charge of her health was thrilling for Jessica. She continues her work talking to other women like her, raising awareness, and advocating screening women before being prescribed oral contraception.
“I cannot express my gratitude and excitement to learn that people have access to finding out whether they have (the variant for) Factor V Leiden,” Jessica said. “It could be lifesaving.”
*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 Hereditary Thrombophilia genetic health risk report is indicated for reporting of the Factor V Leiden variant in the F5 gene, and the Prothrombin G20210A variant in the F2 gene and describes if a person has variants associated with a higher risk of developing harmful blood clots. The variants included in this report are most common and best studied in people of European descent. These variants are also found in populations with European ancestry, like African Americans and Hispanics or Latinos.