Isaiah Austin had high aspirations of playing basketball for the NBA, but a rare genetic disorder put an end to his lifelong dream with a diagnosis of Marfan syndrome.
Despite Austin’s devastating news, the NBA and new commissioner Adam Silver ceremoniously drafted the 20-year-old between the 15th and 16th picks of the 2014 NBA draft at Barclays Center Thursday.
“(Thursday) has been a dream come true. Ive met so many people that are supporting me, and they dont even know me on a personal level, Austin said, as reported by the New York Daily News.
So it just shows the heart and character that all these people have… Just being around all the draftees and seeing all my friends get drafted, it just brings joy in my heart because I know how hard we worked to get to this point.”
But what is this syndrome that shattered the young aspiring basketball player’s dreams?
What is Marfan syndrome?
Marfan syndrome is a rare genetic disorder that affects the body’s connective tissue. According to The Marfan Foundation, Marfan syndrome occurs when the body has a mutation in the genetics that make the protein fibrillin-1. This genetic mutation results in an increase in a protein called transforming growth factor beta, or TGF-ß, which disrupts the connective tissue within the body.
Because connective tissue is found everywhere in the body, Marfan syndrome can affect innumerable systems and organs, though most recognizable effects are seen in the heart, blood vessels, bones, joints, and eyes. Since Marfan syndrome can affect the circulatory system, it can lead to dangerous heart and lung complications and sometimes death.
“About 1 in 5,000 people have Marfan syndrome, including men and women of all races and ethnic groups,” states The Marfan Foundation.
“About 3 out of 4 people with Marfan syndrome inherit it, meaning they get the genetic mutation from a parent who has it. But some people with Marfan syndrome are the first in their family to have it; when this happens it is called a spontaneous mutation. There is a 50 percent chance that a person with Marfan syndrome will pass along the genetic mutation each time they have a child.”
What are the symptoms?
It is estimated that half of those with Marfan syndrome are unaware they have the condition, and experts on working on making the syndrome more readily recognizable in a clinical setting.
Individuals born with this condition may not have many symptoms until they are adults, but typical presentation of Marfan syndrome includes:
- Long arms, legs and fingers
- Tall and thin body type
- Curved spine
- Chest sinks in or sticks out
- Flexible joints
- Flat feet
- Crowded teeth
- Stretch marks on the skin that are not related to weight gain or loss.
Because Marfan syndrome affects connective tissue anywhere in the body, symptoms can vary significantly based on the individual.
Is there a cure for this syndrome?
Unfortunately, there is no cure for Marfan syndrome. Treatment is based on management of symptoms, and through constant monitoring and managing discomfort, the lives of individuals with this genetic disorder can be lengthened. Prior to the most recent medical advances, most people with Marfan syndrome did not live long past the age of 40.
The Mayo Clinic indicates severe cases often require the need for surgical intervention to repair detached retinas in the eye, blood vessel issues, and bone deformities.
A big part of the management of Marfan syndrome is avoidance of strenuous physical activity that can aggravate the condition and result in permanent connective tissue damage.