Unless you’ve been away from all social media the past couple days, you’ve probably heard that Baylor University basketball player, Isaiah Austin, was just diagnosed with Marfan syndrome. Austin was projected to be a late first round pick of the NBA draft. An abnormal EKG ultimately led to genetic testing, which confirmed the diagnosis. His basketball career is over.
The Marfan community is, of course, discussing this nonstop. First and foremost are expressions of concern for Austin. While many of us have had to change or adjust dreams due to our diagnosis, most haven’t, you know, been a few days away from a career in the NBA. Getting a diagnosis like this is painful stuff, and I’d imagine it happening in the spotlight makes it even more daunting.
There are also feelings of relief. While receiving a Marfan diagnosis can feel like the end of your life, it’s also the beginning. Without proper management (medication, monitoring, and activity restrictions), Marfan can be fatal. The first step to managing it is knowing you have it, and for that, I have to applaud the NBA for screening their athletes.
Many are questioning how Austin got this far in his career without his diagnosis being picked up. Several years ago he had a retinal detachment, which left him blind in that eye. Retinal detachments are rare and that, combined with his height, should have been a red flag. We’ll never know why the diagnosis wasn’t caught earlier, but thank goodness that it was caught now, before a life-threatening dissection occurred.
There is a significant takeaway from this: the importance of knowing the signs of Marfan syndrome. In the wake of this story, some have reported that Marfan is hard to identify. While the diagnosis can be difficult to tease apart from other connective tissue disorders, Marfan has some notable outward signs. These include:
- tall stature
- disproportionately long limbs
- flexible joints
- concave or protruding chest bone
- flat feet
- curvature of the spine
- lens dislocation in the eye
- retinal detachment
- spontaneous lung collapse
If you are involved with athletes at all, whether you’re a doctor who does athlete screenings, an athletic director, a coach, or a parent, please get acquainted with these symptoms! Refer anyone with these signs for an echocardiogram to check their heart and aorta. Aortic aneurysms, a life-threatening part of Marfan syndrome, don’t have symptoms until they rupture. No game, season, or career is worth the chance of an athlete dying on the court from an aortic dissection that could have been prevented with proper screening.
(While Austin was diagnosed after an abnormal EKG reading, an EKG is not a main screening tool for Marfan. Many patients with Marfan will have normal heart rhythms, which is the only thing an EKG looks at. An echocardiogram, MRI, or CT scan is necessary for a diagnosis.)
To any of you reading this, whether you’ve recently been diagnosed with Marfan syndrome, suspect Marfan, or simply have lived your life with the diagnosis but never met someone else who shared it, I implore you to reach out and connect with The Marfan Foundation. No organization has more information, connections with physicians and researchers, or opportunities for support. The staff will help guide you and the members will be there to lift you up. We don’t call ourselves the Marfamily for nothing.
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