Isaiah Austin, an NCAA athlete who played center for the Baylor Bears’ college basketball team, was destined to become a First Round NBA draft pick in June 2014. However, in the days leading up to the NBA draft, Austin tested positive for Marfan Syndrome. The diagnosis may have sidelined his career as an athlete —but not as an advocate for those suffering from the disease.
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What is Marfan Syndrome?
Marfan syndrome is a genetic disorder that affects one out of every 5,000 men and women. It impacts the body’s connective tissue, which holds the body’s cells and organs together, playing a large part in growth and development.
The disorder is genetically inherited, and does not discriminate on the basis of gender or race. Occasionally, an individual may become the first person in the family to develop the disorder. This is known as a “spontaneous mutation.”
Marfan syndrome is present in a person from birth, though some of the signs aren’t visible until the teen years or adulthood.
Some telltale symptoms of Marfan syndrome are:
- Aortic enlargement — this symptom may not be evident until a person is adulthood teenager or young adult
- Tall stature
- Thin body frame
- Long arms, legs, and fingers
- Crowded teeth
- Flat feet
- Flexible joints
- Chest either sticks out or is sunken inward
- Curvature of the spine
- Stretch marks on skin not related to rapid weight loss or gain
- Eye problems such as extreme nearsightedness, early glaucoma, or cataracts
- Sudden collapse of a lung
Isaiah Austin fits the profile of many individuals with Marfan syndrome. He stands 7’1” and has very long limbs — one characteristic of those with the disease. Austin is also blind in one eye as a result of a detached retina. Vision problems are a characteristic of Marfan syndrome, as well.
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Is Marfan Syndrome Deadly?
Marfan syndrome can potentially be fatal. The most common cause of death for those with the disorder is aortic dissection. Because Marfan syndrome affects the body’s connective tissues, this means that a small tear in the walls of the heart and aorta can become bigger and cause the aorta to grow wider, resulting in an aneurysm.
How Can Marfan Syndrome Be Treated?
There is no cure for Marfan syndrome, but early detection and treatment can help to prevent or slow the progress of complications. Routine heart tests can help monitor heart health for those with Marfan syndrome. In some cases, surgery may be required to replace the affected portion of the aorta or the aneurysm in order to prevent aortic dissection. Additionally, there are now medicines, such as beta blockers and angiotensin receptor blockers, that can help to delay the development of an aortic aneurysm.
Children’s Hospital of Pittsburgh of UPMC participated in a national study performed by the Pediatric Heart Network to compare the effects of treatment with beta blockers versus angiotensin receptor blockers to prevent aortic aneurysms in pediatric patients with Marfan syndrome.
What’s Next for Isaiah Austin?
As reported by Forbes, Isaiah Austin recently launched a website and is committed to raising awareness of Marfan syndrome. His website offers t-shirts that sport the slogan “Dream Again.” Sales of the shirts support the Marfan Foundation, a comprehensive resource for patients, loved ones, and health care professionals.
In an interview with ESPN, Austin said, “I had a dream that my name was going to be called,” despite his diagnosis. While he met with NBA officials ahead of the draft and discussed his ineligibility, the NBA planned to honor the young athlete and drive awareness to his cause.
In an emotional moment during the NBA draft, Austin was given a chance by the NBA to “Dream Again” when NBA Commissioner Adam Silver called his name, making Austin’s dream come true. Although Austin may be sidelined from the court due to Marfan syndrome, he is destined to make one of the greatest rebounds of his career by raising awareness for those who also live with the disease.
The UPMC Heart and Vascular Institute ranks among the best in the United States for complete cardiovascular care. U.S. News & World Report lists UPMC Presbyterian Shadyside as one of the top hospitals nationally for cardiology and heart surgery. We treat all manners of heart and vein conditions, from the common to the most complex. We are creating new medical devices and cutting-edge treatments that may not be available at other hospitals. We also offer screenings, free clinics, and education events in the community.