NBA Drafts Isaiah Austin After Marfan Diagnosis

Isaiah Austin‘s life has been a roller coaster this week. The 7 -foot 1-inch 20 year-old who shined as a center at Baylor University was expected to be drafted this week by the NBA.

But  four days before the Draft, after a routine physical, Austin got devastating news. He was diagnosed with a genetic condition called Marfan Syndrome, which affects the body’s connective tissue. His potential NBA career was over. “They told me that my arteries in my heart are enlarged and that if I overwork myself or push too hard that my heart could rupture,” Austin told reporters.

But last night, the NBA did something classy. The league gave Austin a ceremonial first round draft pick to give him the moment he had worked so hard to achieve. NBA Commissioner Adam Silver made the special announcement:

 “Like the other young men here tonight, Isaiah committed himself to endless hard work and dedication to a potential career as a professional basketball player and we wanted to make sure he fulfilled at least this part of his dream.

“So it gives me great pleasure to say, that with the next pick in the 2014 NBA Draft, the NBA selects Isaiah Austin from Baylor University.”

Asked what he plans to do now, Austin told ESPN: “I’m going to dream again. I’m going go around and share my story with as many people as I can. I’m just hoping to touch people’s lives and let them know that any obstacle that they’re facing, they can get through it…. All they have to do is keep a positive mind and thank God for every moment that they’re on this earth.”

Our best wishes go this inspiring young man.

What Is Marfan Syndrome?

Marfan syndrome is a condition in which your body’s connective tissue is abnormal. Connective tissue helps support all parts of your body. It also helps control how your body grows and develops.

Marfan syndrome most often affects the connective tissue of the heart and blood vessels, eyes, bones, lungs, and covering of the spinal cord. Because the condition affects many parts of the body, it can cause a number of complications. In some cases, the complications are life threatening.

About 1 out of every 5,000 people in the United States has Marfan syndrome. Men, women, children, and people of all races can have the condition.

Overview

Marfan syndrome is a genetic disorder. A mutation, or change, in the gene that controls how the body makes fibrillin causes Marfan syndrome. Fibrillin is a protein that plays a major role in your body’s connective tissue.

Most people who have Marfan syndrome inherit it from their parents. If you have Marfan syndrome, you have a 50 percent chance of passing the altered gene on to each of your children. In about 1 in 4 cases, Marfan syndrome occurs because of a spontaneous mutation. Thus, the affected person is the first in their family to have the condition.

Final_Marfan2.ashxMarfan syndrome often affects the long bones of the body. This can lead to signs, or traits, such as:

  • A tall, thin build.
  • Long arms, legs, fingers, and toes and flexible joints.
  • A spine that curves to one side. This condition is called scoliosis.
  • A chest that sinks in or sticks out. These conditions are called pectus excavatum  and pectus carinatum.
  • Teeth that are too crowded.
  • Flat feet.

Marfan syndrome traits vary from person to person, even in the same family. Some people who have the condition have many traits, while others have few.

What Causes Marfan Syndrome?

Marfan syndrome is a genetic disorder. A mutation, or change, in the gene that controls how the body makes fibrillin causes Marfan syndrome. Fibrillin is a protein that plays a major role in your body’s connective tissue.

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

At least 25 percent of Marfan syndrome cases result from a new mutation in the FBN1 gene. These cases occur in people with no history of the disorder in their family.

How Is Marfan Syndrome Diagnosed?

Your doctor will diagnose Marfan syndrome based on your medical and family histories, a physical exam, and the results of tests. He or she also will consult a set of guidelines, called Ghent criteria, used to diagnose Marfan syndrome.

Marfan syndrome can be hard to diagnose. This is because the signs, or traits, of Marfan syndrome are the same or similar to the signs of other connective tissue disorders.

If you’re diagnosed with Marfan syndrome, all of your first-degree relatives also should be checked for the disorder. This is because, even in families, the outward traits of Marfan syndrome may vary quite a bit.

What are the complications of Marfan Syndrome?

Heart and Blood Vessel Complications

The most serious complications of Marfan syndrome involve the heart and blood vessels.

Marfan syndrome can affect the aorta, the main blood vessel that supplies oxygen-rich blood to the body. In Marfan syndrome, the aorta can weaken and stretch. This condition is called aortic dilation or aortic aneurysm.

If the aorta weakens and stretches, it may tear and leak blood. This condition is called aortic dissection. This serious complication can lead to severe heart problems or even death.

Aortic dissection can cause severe pain in either the front or back of the chest or abdomen (stomach). The pain can travel upward or downward. If you have symptoms of an aortic dissection, call 9-1-1.

Marfan syndrome also can cause problems with the heart’s mitral valve. This valve controls blood flow between the upper and lower chambers on the left side of the heart. Marfan syndrome can lead to mitral valve prolapse (MVP), a condition in which the flaps of the mitral valve are floppy and don’t close tightly.

MVP can cause shortness of breath, palpitations , chest pain, and other symptoms. If you have MVP, your doctor may hear a heart murmur if he or she listens to your heart with a stethoscope.

Eye Complications

Marfan syndrome can cause a number of eye problems. A common problem in Marfan syndrome is a dislocated lens in one or both of the eyes. In this condition, the lens (the part of the eye that helps focus light) shifts up, down, or to the side. This can affect your eyesight. A dislocated lens often is the first sign that someone has Marfan syndrome.

Other eye complications of Marfan syndrome include nearsightedness, early glaucoma (high pressure in the fluid in the eyes), and early cataracts (clouding of an eye’s lens). A detached retina also can occur.

Lung Complications

Marfan syndrome can cause sudden pneumothorax , or collapsed lung. In this condition, air or gas builds up in the space between the lungs and chest wall. If enough air or gas builds up, a lung can collapse.

The most common symptom of a collapsed lung is sudden pain in one side of the lung and shortness of breath.

Marfan syndrome also can be linked to sleep apnea. This may be due to the shape of the face, oral cavity, or teeth of the person who has Marfan syndrome. Sleep apnea causes one or more pauses in breathing or shallow breaths while you sleep.

Breathing pauses can last from a few seconds to minutes. They often occur 5 to 30 times or more an hour. Typically, normal breathing then starts again, sometimes with a loud snort or choking sound.

Conditions such as scoliosis (a curved spine) and pectus excavatum can prevent the lungs from expanding fully. This can cause breathing problems. Marfan syndrome also can cause changes in the lung tissue, and it can lead to early emphysema .

Nervous System Complications

Fluid surrounds your brain and spinal cord. A substance called dura covers the fluid. In Marfan syndrome, the dura can weaken and stretch.

This condition, called dural ectasia, can occur in people who have Marfan syndrome as they grow older. Eventually, the bones of the spine may wear away.

Symptoms of this condition are lower back pain, abdominal pain, headache, and numbness in the legs.

Outlook

New advances have been made in the early diagnosis and treatment of Marfan syndrome. It’s now possible for people who have Marfan syndrome to live longer and enjoy a good quality of life. Many people who have Marfan syndrome and are properly diagnosed and treated may live an average lifespan.

Researchers continue to study the condition and look for better treatments.

Marfan syndrome has no cure, but treatments can help delay or prevent complications of the condition. Treatments include medicines, surgery, and other therapies. Limits or changes to certain activities may help reduce the risks to the aorta, eyes, and joints.

The type of treatment depends on how the condition is affecting a particular patient’s body.

Sources: NIHLB, Genetics Home Reference and the Marfan Foundation

Michele R. Berman, M.D. was Clinical Director of The Pediatric Center, a private practice on Capitol Hill in Washington, D.C. from 1988-2000, and was named Outstanding Washington Physician by Washingtonian Magazine in 1999. She was a medical internet pioneer having established one of the first medical practice websites in 1997. Dr. Berman also authored a monthly column for Washington Parent Magazine.

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