Marfan syndrome is an inherited congenital disorder affecting the connective tissues of the heart and great vessels (the large vessels and veins that are directly connected with the heart), eyes, bones, and other organs. Revathi's story, filled with childhood curiosity and unexpected challenges, revealed how she faced life’s obstacles with unwavering strength.
The beginning of challenges and a series of procedures
Revathi's early years were a mix of confusion and fear. Her troubles surfaced when teachers observed her consistent struggles in reading words from the classroom board. A subsequent check-up revealed a dislocated eye lens, the first sign of Marfan syndrome. This marked the start of Revathi's frequent visits to hospitals. Multiple tests later confirmed her diagnosis of Marfan syndrome, a condition largely unknown at the time due to the limited information available, especially with the internet not being common then. As Revathi’s condition did not seem immediately life-threatening, her family, not fully aware of the implications, was therefore not overly concerned.
Revathi’s life took a significant turn as she approached 18, when she began experiencing persistent pain in her hips and legs. Despite seeking help from a local general practitioner, her discomfort was dismissed as typical sprains, attributed by her youth. Unbeknownst to her, these were early signs of arthritis. The real turning point came at 21 when her left leg, finally unable to support her weight, start to give way, causing frequent falls and excruciating pain during walks — an alarming development that caught her off guard. Tests later revealed that she had advanced arthritis, a facet of Marfan syndrome that she had yet to fully comprehend. The condition left Revathi unable to walk, plunging her into a three-year period of wheelchair confinement. As she was deemed too young for conventional treatments, she could not opt for typical treatment for advanced arthritis – a hip replacement procedure that is commonly recommended for the elderly.
Fortunately, hope arrived with the introduction of a revolutionary implant for her legs. In 2010, Revathi underwent her first procedure for her left leg, and in 2017, she embraced another for her right leg. These treatments, though tough, were crucial in Revathi's continued journey of strength amid the challenges of Marfan syndrome.
The next few years saw Revathi addressing long-standing vision issues through a lens replacement procedure for her right eye. She is also due for a left eye lens replacement, followed by a significant open-heart surgery to correct her enlarged aorta (vessel from the heart), and a subsequent brain surgery to rectify her cerebrospinal fluid leak which is causing daily migraines. She is currently relying on heavy painkillers to cope with the pain from migraines, just to find reprieve in sleep.
Revathi’s true heartbreak and toughest decision came when she found out she was pregnant, and that her heart will not be able to endure the pregnancy journey. Supported by her husband, they made the painful decision to terminate the pregnancy. Yet, despite the painful loss and as surgeries for her eyes, heart, and brain loom on the horizon, Revathi’s fight for life persists.
Finding hope in advocacy and support
When asked what gives Revathi the courage to keep on fighting, she shared, “I’m never a quitter. Life is harsh, and it’s far from easy. But I remind myself to take one step at a time. I refuse to stay still, and I firmly believes there’s always a silver lining at the end of it all.”
Revathi also finds solace in her only brother, who was also diagnosed with Marfan syndrome. With shared fate, the siblings often confide in each other, exchanging experiences and information. They also attended support groups and find comfort through shared stories of similar plight. Emphasising the power of knowledge, Revathi believes that staying informed plays a crucial part in managing her condition.
Revathi and her brother are very close, often offering support for one another as both shared the same rare condition - Marfan syndrome.
Typical Distinctive Physical Characteristics:
Tall and thin body frame
Long arms, legs, fingers and toes
Flat feet
Protruding or indented chest bone
Severe shortsightedness
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Marfan syndrome is caused by mutation in the FBN1 (fibrillin) gene resulting in changes in the production of fibrillin-1 and altering the structural integrity of connective tissues found in various organs throughout the body such as in the heart, great vessels, joints, eyes etc. The abnormal connective tissue in patients with Marfan syndrome cannot support normal organ or joint function resulting in joint dislocation, scoliosis, eye lens dislocation, leaky heart valves and enlarged heart vessel.
It is estimated that one in 3,000 - 5,000 people are born with Marfan syndrome worldwide. Marfan syndrome can occur in all races and affect both genders equally.
Revathi’s residing doctor, Assoc Prof Tan Ju Le, Senior Consultant from the Department of Cardiology, and Director of the Adult Congenital Heart Disease (ACHD) programme, explained, “Some people may be born with Marfan syndrome, but symptoms can develop gradually over several years. The severity of symptoms of Marfan syndrome varies from person to person, even among affected family members, making the condition complicated and unpredictable.”
Assoc Prof Tan further shared that among people with Marfan syndrome, about 75% of them would have inherited the genetic change from one of their parents. As some people with Marfan syndrome may have a mild form of the disorder, the parent may not have realised they have the condition. The other 25% of people who have it, arise from a new spontaneous mutation in the gene. Once a patient is diagnosed with Marfan syndrome which is an autosomal dominant condition, there is a 50% chance this can be passed to his or her offspring.
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This article is from Murmurs Issue 46. Click here to read other articles or issues.
