Roan Apolonio

Growing up, Roan Apolonio was always seated in the back of classrooms at school and placed in the last row for group pictures. Noticeably taller than her peers from a young age, Roan felt different from those around her. At 14, she finally found out why.

When Roan was in seventh grade, her mother, Jovie, became concerned when Roan grew taller than her older brother. She took Roan to a doctor in their hometown of Pasig City in the Philippines. The physician suspected Roan had Marfan syndrome — a rare genetic disorder that affects a connective tissue and can have an impact on many body systems, including the heart and blood vessels, eyes, skin and skeleton. Physical traits common in people who have Marfan syndrome include a tall, slender build, a narrow face, loose joints and spinal abnormalities.

Even after the diagnosis of Marfan syndrome was confirmed, though, Roan had little more than a label for her symptoms.

"When my doctors told me I had Marfan, I didn't understand what it was or what to do about it," says Roan. "The doctors couldn't provide much information. Here in the Philippines, Marfan syndrome is very rare."

Over the next eight years, Roan had an echocardiogram of her heart annually, as her physician recommended, because problems with the cardiovascular system are common among people with Marfan syndrome. Otherwise, her life went on largely as before.

All that changed with a visit to the United States, a chance meeting with Mayo cardiologist Heidi Connolly, M.D., and a trip to Rochester, Minn., to Mayo Clinic. For Roan, the hastily arranged journey to Mayo replaced a world of unknowns with much-needed treatment, a better understanding of her medical condition and a brighter outlook for the future.

Heidi Connolly, M.D., a Mayo Clinic cardiologist, met Roan at a national conference on Marfan syndrome. Dr. Connolly worked with colleagues to arrange for Roan to travel to Rochester to be seen at Mayo Clinic.

Making connections

Roan's mother learned more about Marfan syndrome through her work as a producer for the Philippine radio-drama "Love Ko, Family Ko"("I love my family"). She researches medical conditions that are featured on the program. For an episode that included Marfan syndrome, Jovie interviewed a geneticist who told her about the National Marfan Foundation, an organization for those affected by Marfan syndrome and related disorders. Jovie and Roan learned more about the disease using the foundation's resources, and Roan wanted to participate in the organization's annual conference.

"I wanted to meet people who are like me and talk to other Marfan patients," says Roan. "Last year, I sent a letter to the foundation to get a scholarship for the conference, and they gave it to me."

With that, Roan and Jovie traveled to St. Louis, Mo., in August 2005 to attend the National Marfan Foundation's 21st Annual Conference. Roan got much more than just the chance to share her experiences with others who have Marfan syndrome. She visited a free clinic for those who do not have access to Marfan experts at home. At that clinic, she met Dr. Connolly, who volunteered her time at the conference to see patients and also directs Mayo's Marfan Clinic.

In reviewing Roan's medical information and test results, Dr. Connolly found that Roan's aorta, the main artery that leads out of the heart, was enlarged. The condition put the 23-year-old at high risk for aortic dissection, a life-threatening condition in which a tear in the wall of the aorta causes the layers of the artery wall to separate. Roan needed surgery to replace the aorta as soon as possible.

"The day after I saw Roan, I spoke to her mother, who said Roan was terribly upset by the realization of her condition and the surgery she needed," says Dr. Connolly. "She felt her options were very limited in the Philippines. I told her we would do everything we could to help, and that there was a possibility she might be able to come to Mayo Clinic."

Roan's family could not afford the surgery in the United States, and the surgery is not available where they live. Dr. Connolly and Mayo physicians Thoralf Sundt, M.D., and Juan Bowen, M.D., petitioned to have Roan's surgery provided without charge at Mayo Clinic. When they received approval, the group also secured transportation to Minnesota for Roan and her mother. Others at Mayo made arrangements for them to stay with a host family during their time in Rochester.

Cutting-edge care

Not only would Mayo Clinic provide Roan's care without charge, surgeons at Mayo could offer her a new procedure that would fix the problem without requiring the daily dose of blood-thinning medication usually necessary after this type of surgery.

Traditionally, when an aorta is at risk of dissection, a patient undergoes a composite root replacement. During this procedure, the upper (ascending) portion of the aorta and valve are replaced with a mechanical valve and a synthetic graft. With the new procedure — a valve-sparing aortic root replacement — the individual's ascending aorta is replaced, but the natural valve is preserved and implanted into the synthetic graft.

Thoralf Sundt, M.D., (center) a Mayo cardiovascular surgeon, and his team completed a valve-sparing aortic root replacement, which also spared Roan from a lifetime on blood thinners. Also(left to right), Thomas Spackman, M.D., Dale Kunz, Linda Meyer and Shawn LaPlante.

"With a mechanical valve, the patient has to take a blood thinner every day, or blood clots may form on the valve that could cause a stroke," says Dr. Sundt, Roan's cardiovascular surgeon. Sparing the natural valve preserves more of its function. "Although we can't guarantee the natural valve will last the rest of a person's life, the operation typically offers freedom from long-term blood thinners."

The surgery went well. After six days in the hospital, Roan returned to her host family's home to recover. Just three weeks after arriving in Rochester, Roan's physicians told her she could go home. Most care and treatment she received at Mayo Clinic in that short time would not have been possible had she remained in the Philippines.

"She certainly would not have had a valve-sparing operation in the Philippines, and she probably wouldn't have had anything done," says Dr. Sundt. "When she arrived at Mayo, she was at risk for a catastrophic medical event. Aortic dissection often is lethal. By sponsoring her to come to the conference, it's arguable that the Marfan Foundation saved Roan's life. Those of us at Mayo involved in her care are pleased to have played a role in that."

Looking forward

Now back home in the Philippines, Roan has again settled into her routines. She works as a part-time fashion designer and is a university student, studying to earn a degree in broadcast communications. She keeps in touch with Dr. Connolly through emails and visits a local cardiologist regularly.

Reflecting on their experience, Roan and her mother are amazed by the events that brought them to Mayo Clinic. "We consider all of it a miracle," says Jovie. "And the people who helped us, we consider them angels sent from heaven."

Roan's medical condition still poses some challenges, and she needs long-term follow-up care and monitoring for Marfan syndrome. Overall, though, she's optimistic about what the future holds.

"Knowing that my heart has been repaired means that my whole being has been renewed, too. I feel like I have been freed from prison, like I've been given a chance to experience life at its best," says Roan. "To be honest, I don't have exact plans for what comes next. But that's what I love so much about life, my life — the beautiful mysteries and the surprises still to come."