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Putting the Pieces Together: Megan's Storyby Lori Baker
"When Megan got older, we noticed that her skin was especially stretchy, but we simply accepted this as one of many things that makes her special," said her mother Cheryl. A turning point for Chollett came during an anatomy class when she was 17. During a discussion about skin, Megan's friends asked why her skin was different. After demonstrating how it stretched, her teacher asked if she had Ehlers-Danlos syndrome. "I had never heard of it," said Chollett. "My teacher printed out some information on EDS, and it scared me because I had everything it described." Deadly Diagnosis or Not? Megan credits her Baylor Clinic caregivers for treating her complex medical conditions, but calls her mother Cheryl her greatest advocate. With research in hand, mother and daughter convinced the pediatrician that the teen likely had EDS, a condition that affects about one in 5,000 people and results in a connective tissue defect affecting skin, muscles, and ligaments. A Baylor College of Medicine geneticist at Texas Children's Hospital agreed that Chollett had EDS, but there were no tests to determine which of the six types she had. Her symptoms ruled out the most deadly type, but narrowing it down further was for all practical purposes an educated guess. The encounter was significant not only because of Chollett's diagnosis, but also because it set the course for her career. "I was a senior in high school at the time and had been trying to figure out what I wanted to study in college," said Chollett, who grew up in Conroe and attended the Academy of Science and Technology, a magnet program at Oakridge High School. "There was a genetics counselor at the visit, and that decided it for me!" The summer between her freshman and sophomore year at Texas A&M, Chollett returned home and spent one day a week observing Sally McAdoo, a prenatal genetics counselor at the time in BCM's OB/Gyn department, who told her that tests had become available for some EDS types. She encouraged Chollett to revisit a geneticist. Heart-Wrenching TwistAt age 19, Chollettt needed to transition to physicians who treated adults, so last June she saw Dr. Hagith Yonath in the BCM Adult Genetics Clinic, who recommended she have an ultrasound to check a structure in her heart called the aortic root, which is enlarged in those with the potentially lethal vascular type of EDS. Before leaving, Chollett and her mother asked Yonath if she could recommend a family practice physician. Within minutes, Yonath introduced them to Dr. Maria Blazo, a BCM family and community medicine physician who specializes in genetics. Blazo saw Chollett the following week, and an ultrasound was performed a few days later. The aortic root was healthy, but her blood was flowing abnormally from the bottom of her heart, necessitating an MRI that same week. An electronic medical record allowed all her Baylor Clinic caregivers to share their findings and have immediate access to her records. Chollett had had regular echocardiograms since age 14 for a heart murmur—all resulting normally—so her mother was shocked to learn that Megan's aorta was narrowed and required surgery. "That phone call really sent me reeling," said Cheryl Chollett. "But, Dr. Blazo had already put the wheels in motion to schedule an appointment with a great surgeon, Dr. [Joseph] Coselli, whose nurse called within 30 minutes to confirm Megan's appointment in just three days. That call really meant the world to me and got me through the weekend." Chollett saw Coselli, chief of the division of cardiothoracic surgery at BCM and chief of adult cardiac surgery at the Texas Heart Institute at St. Luke's Episcopal Hospital, and her surgery was scheduled just one week later. That weekend, the Cholletts got further assurance of Coselli's expertise when they heard him speak at an EDS conference in Houston. The surgery was a success, and Chollett's scar healed normally—an unusual occurrence for EDS patients. Coselli also took a skin biopsy during the surgery and sent it to a colleague at the University of Washington, in the hopes of determining—at long last—Megan's EDS type.
Chollett believes that everyone involved in her care "had a genuine concern" for her health and well-being. "The convenience of having everything in the same building was wonderful, and it was great that all my doctors could look up and share my information on the computer," she said. "All my doctors worked so well to put the pieces together." |
Patient CarePutting the Pieces Together: Megan's Story When Baby Heart Patients Grow Up Saying Goodnight to Sleeping Pills ResearchFrom a Sister's Illness... A Cancer Crusade EducationCommunity ServiceAlumni & DevelopmentBRASS Connections Help Students Soar College NewsPhysician Hall of Fame: College Receives One-of-a-Kind Signature Collection
People Working Together to Achieve Greatness
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Volume 3, Issue 1, Spring 2007 |
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| Last modified: October 10, 2008 |
Megan Chollett's parents first suspected something might be wrong when she was very young and the slightest bump would produce severe bruising. Tests performed by their pediatrician didn't provide any clues, so it wasn't until Megan was in high school that they discovered she had a rare genetic condition.
"Each step of the way—from my teacher in high school, who I credit with figuring out I had EDS, to Karen, the amazing nurse anesthetist who was working with Dr. Coselli on a grant and helped manage my pain after surgery— I have felt like the right people have been put into my life to help me through this," said Chollett. "The most important person, though, has been my mom, who has been my greatest advocate."