At age 20, just days before NBA Draft day, Isaiah Austin, who played basketball at Baylor, was diagnosed with Marfan syndrome and his dreams of playing in the NBA were quickly dashed. Isaiah is choosing to look at the positive as he says, “I know basketball is not my life, it’s just something I enjoy to do and something that’s brought me to great places in this world and made me become a better man because of it. I was blessed to be able to play. One day the ball was going to stop bouncing eventually. It just happened sooner for me than for others.” Isaiah’s mom encourages Isaiah saying, “Sometimes God puts trials in your life so you can get through them. God sees you as a vessel for Him. Honey, you’re a chosen one. You were meant to be something.’ Isaiah plans to allow this seemingly gut wrenching news to become part of his platform to pursue a greater purpose with his life. He wants to bring about awareness of Marfan syndrome so that people can potentially get tested for it and catch it earlier on. If people don’t struggle with Marfan syndrome, then Isaiah would like to simply encourage them through sharing his story and choose to look for the positive.
What Is Marfan syndrome?
Marfan syndrome is a genetic disorder that causes problems with connective tissue within the body. This tissue helps hold organs together and is made up of proteins. Those who have Marfan syndrome, have a genetic defect in the gene that tells the body to make a protein called fibrillin-1. The mutated genes create excess proteins called TGF-B, which causes problems in the connective tissue of the body. Marfan syndrome affects many different parts of the body since we have connective tissue throughout our body. It affects 1 in 5,000 people, which include both men and women of all races and ages. 75% of people with Marfan syndrome inherit it, and 50% of those with it will pass on the genetic mutation to each child they have.
Know The Signs of Marfan syndrome
This disorder can cause problems in the bones, joints, lungs, eyes, skin, nervous system, heart, and blood vessels. A common feature of this syndrome is aortic enlargement, although not everyone who has Marfa syndrome has aortic enlargement. The aorta is the main blood vessel in the heart that carries blood away from the heart. This aorta enlargement can be life threatening. The earlier this syndrome is caught and treated, the better. Symptoms affecting the heart and blood vessels, and bones and joints can get worse as time passes, therefore, getting accurate diagnosis and treatment is very important.
Potential Signs of Marfan syndrome
Some people have signs and features that are harder to detect, while others have some more visible signs. They may have different combinations of these features and don’t necessarily have every feature, but these are a few that are easier to see.
- Long arms and legs
- Chest sunk in or sticks out
- Tall and thin body type
- Flat feet
- Curved spine
- Stretch marks not related to weight loss or gain
Marfan syndrome Signs That Are Harder to Detect
- Sudden lung collapse
- Eye problems
- Severe nearsightedness
- Early glaucoma or cataracts
- Detached retina
Looking To Get Tested For Marfan syndrome?
If you or your loved one believes they may have Marfan syndrome, there are several different types of doctors you may go to, to get tested. These include your family doctor or an orthopedist (bone specialist). Don’t know what doctor to go to? Check out our preventive cardiologists at Top10MD today for your peace of mind.