Embracing First Pregnancy with Marfan Syndrome

Anticipation and excitement bubble as Leticia Maia approaches her due date of April 23, 2025. This milestone marks not only the arrival of her first child but also a unique journey through pregnancy while navigating life with Marfan syndrome. With the unwavering support of a dedicated team of high-risk pregnancy specialists, Leticia faces this new chapter with both hope and a sense of security.

"I am very excited to see the baby on the way, to have her in my arms, to have my time with my family," Leticia shares, her voice filled with the universal joy of an expectant parent. "She’s my first baby so it’s an unknown area new for anybody in life."

Finding a circle of expert care has been paramount for Leticia.

"I feel very safe with them," she says of the high-risk obstetricians and other healthcare providers at Memorial Regional Hospital Family Birthplace. "Since the beginning, they have shown me the whole hospital and the whole team for high-risk pregnancy. I feel really safe there."

This sense of security allows Leticia to focus on the joy of her impending motherhood, knowing she is in capable hands.

A Journey of Discovery: From Brazil to Understanding Marfan

Leticia's journey with Marfan syndrome began in her childhood in Brazil. What her family initially thought was a simple eye infection led an astute ophthalmologist to suspect a broader condition.

"It was the main thing that made him think of Marfan for me," Leticia recalls.

The doctor's keen observation extended beyond her eyes, noting her hands, mouth, and the presence of a chest wall deformity called pectus excavatum, she shared with many in her extended family.

This seemingly routine visit became the catalyst for a significant discovery: Marfan syndrome ran in Leticia's family. During her teenage years, she experienced other common manifestations of the condition, including scoliosis and foot problems. Staying active through swimming became an important part of her life, and her mother embarked on a determined search for a Marfan specialist in Brazil.

"My mom was very desperate to find answers. She started looking for a cardiologist for me," Leticia explains. She also highlights the cultural context of her upbringing, noting that "Marfan syndrome is not something we talk about in Brazil commonly."

Seeking specialized care eventually led Leticia and many of her family members to the United States eight years ago.

"Because of me, my whole family discovered they had Marfan syndrome. We didn’t know it was inherited at first."

Genetic testing confirmed that her mother and sisters also had the condition. Interestingly, within her family, the symptoms of Marfan have tended to be milder, with fewer life-threatening complications. This has sometimes led to others questioning her diagnosis.

"People will say, 'Are you sure you have Marfan? You don’t look like it,'" she shares.

Looking to the Future: The Next Generation

With her own experiences shaping her perspective, Leticia is aware that her baby has a 50% chance of inheriting Marfan syndrome. However, she approaches the future with remarkable peace.

"If she does have Marfan, I’m fine," Leticia states with conviction. "The good part of discovering things early is medical monitoring. Her fetal echo was fine. After she is 6 months old, we can see if she has something."

Her proactive approach and trust in early detection underscore her strength and preparedness.

Balancing her pregnancy with running her own catering company, Leticia feels optimistic about her own safety during delivery and beyond, largely due to her close collaboration with a multidisciplinary team of expert providers.

"I know how to take care of myself," she affirms. "Of course, you feel more scared, you have a different type of body. Knowing that I am different, I don’t know how much different my birth will be. But that is also unknown for women without Marfan," she wisely observes.

Ultimately, Leticia's hopes for her child are universal: "I just want my baby to have a healthy life, a normal life. All the doctors for the baby are organized for her birth."

As Leticia Maia eagerly awaits the arrival of her daughter, her story serves as a powerful reminder of the importance of early diagnosis, expert medical care, and the unwavering strength of a mother's love.

This article was originally published on April 28, 2025, by the Marfan Foundation.