Life As a Genetic Counselor

We all have the gene.

A little over a week ago, my Facebook feed erupted with posts about former Baylor basketball player, Isaiah Austin:

“Genetic disorder ends the career of NBA prospect”

“Former Baylor Center’s Career Ended by Rare Genetic Disorder”

“NBA Prospect has Career-Ending Condition”

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Fellow Baylor grad AND genetics? Gotta click on it — were my first thoughts.  The first story I clicked on brought me to a page with an image of Isaiah Austin, who I quickly learned was over 7 feet tall and blind in one eye due to a detached retina in his teens.  As I skimmed over the words “detached retina”, I knew I didn’t need to read further…he must have been diagnosed with Marfan syndrome.

 chi-isaiah-austin-marfan-syndrome-20140622-001

While I can appreciate the raised awareness of rare genetic disorders to the masses when a celebrity, athlete or other well known individual is diagnosed, its not easy for me to read the news articles that pop up in my Facebook or Twitter feeds, or watch segments on ESPN.  What’s my problem?  I’m a stickler for accurate genetic information and well, its not always right in media and social media.

“…was found to have the gene.”  Sorry guys, we all have the gene.  What the writer meant was “s/he was found to have a mutation in the gene  [that is associated with XX syndrome].

“Marfan’s is a protein that affects a lot of different support structures within the body”.  Nope.  First, it is Marfan syndrome; no longer “Marfan’s”.  And the protein they are referring to is fibrillin-1.

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I could go on but ultimately wanted to share a few reliable resources on Marfan syndrome for those who are curious and want to learn more.

The Marfan Foundation

GeneReviews:  Marfan Syndrome

National Human Genome Research Institute:  Learning about Marfan Syndrome

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