My Story: Alyssa Jefferson

Delayed diagnosis remains a major issue within the Turner syndrome community, with many individuals not diagnosed until adolescence or adulthood despite having signs and symptoms throughout childhood. This delay can have serious health consequences, particularly when important screenings and specialized care are missed.

Alysa’s experience highlights why earlier diagnosis and increased awareness matter—not only for understanding oneself, but for accessing preventative care that can save lives.

In 2023, Alysa had a serious complication seen with Turner syndrome (TS) — an aortic dissection. This can become life-threatening without intervention. For this reason, regular cardiac imaging and follow-up with knowledgeable specialists are essential parts of Turner syndrome care

But at the time Alysa was diagnosed with the aortic dissection, she didn’t know she had Turner syndrome.

“I walked around with the aortic dissection for about a month before realizing something was wrong. If I would’ve known that I

had Turner syndrome, I would’ve had a cardiologist already, watching me to make sure that was not going to happen.”

Alysa explains that self-advocacy was critical in her experience, saying, “If I had not pushed so hard to figure out what was going on with me, I would not be here today. For a month after the dissection, I went into the emergency room for help. They told me it was a panic attack but I kept going until finally they did tests on me and found out that I had the dissection. I was a day away from dying. So when anyone has a feeling something’s wrong with them, they should listen to their inner voice to get the attention they need. It’s that important.”

A Surprising Diagnosis

It was during Alysa’s third pregnancy that doctors uncovered the explanation behind so many of her lifelong health experiences.

Growing up, Alysa also had some TS-related learning issues (especially in math), and it was also affecting her depth perception, creating trouble judging distances. All of these are common experiences among those with TS that can be managed and improved with the proper care. Without a diagnosis, however, it is difficult for patients to receive the care they need.

Upon learning her diagnosis in 2025, Alysa says, “Just learning how the organ systems are affected for girls with Turner syndrome and how there’s a lot of kidney failures and heart problems like I had, and the learning difficulties, it was a lot to take in. I just couldn’t believe it when I found out.”

Three Children Arrive

Surprisingly, Alysa has three children – Connor (age 9), Ella (age 5), and much more recently, Ocean (age 7 months). It was only with her third pregnancy that Alysa’s TS diagnosis was discovered.

This is surprising because women with TS have high rates of infertility and many are not able to carry a child due to health concerns, including cardiac risks. The fact that Alysa carried three children naturally without complications is a miracle.

Alysa says, “I became pregnant with my daughter and it was a high-risk pregnancy. So I went to an obstetrician and had the pregnancy genetic testing done, and it came back indicating

Turner syndrome. They called me and said, ‘Your daughter has Turner syndrome. 99% of pregnancies affected by Turner syndrome end in miscarriage or stillbirth.’”

Alysa decided to have an amniocentesis for confirmation, and what happened next was surprising. “This additional test showed that I am the one with Turner syndrome! My baby was delivered and doesn’t have Turner syndrome, so it turned out differently than they originally thought.”

Learning more about TS is meaningful for Alysa. She explains, “Even though I was able to have kids, I want to understand how that was possible, because so many TS women can’t.”

Raising TS Awareness and Self-Advocacy

Alysa is passionate about raising TS awareness. She asserts “I think Turner syndrome should be talked about more and in more detail because not a lot of people know about it. None of my family or friends knew about Turner syndrome until what happened to me.”

She continues, “People need to know about the diverse group of effects of Turner syndrome, so they will know to get tested, because it’s so important to know if you have it!” Alysa’s experiences with aortic dissection and pregnancy prove this point. While outcomes in both situations were positive in her case, that is not always true. Monitoring of various health conditions is critical for all women and girls with TS.

Alysa believes it’s important to “Know your body. If you feel like something is wrong, you do whatever you must to get help to figure out what it is.”