It was like a bad dream. Four days before Baylor University basketball star Isaiah Austin would hear his name called in the NBA draft in June, a routine physical revealed that he had a genetic disorder called Marfan syndrome. His NBA career was over, but as he noted, his life was not.
Victoria Everett knows Austin’s nightmare firsthand.
When the 27-year-old Philadelphian heard her baby boy diagnosed with Marfan syndrome earlier this year, she was not sure what to think. Neither she nor her family had any idea what the condition was.
When Josiah was only 33 weeks in the womb, he had already been diagnosed with an enlarged heart, but it wasn’t until after he was born on Jan. 10 that the true extent of his condition came into the grim light.
“He was on a breathing machine and he was having severe heart and lung problems. He was there [in the NICU] for about a month and a half,” Everett told The Root.
He was eventually sent home on oxygen, but he would be readmitted, going back and forth, until about March 29, when he returned to the hospital. Josiah would remain hospitalized until his death on June 29 from cardiac arrest.
“Because of [Marfan], his airways were floppy and his heart was enlarged, and it was leaning on his airways, so he had a lot of breathing support,” his mother explained, subdued. “He was on a feeding tube; he couldn’t eat.” Josiah also had the typically long fingers and toes and limbs associated with the condition.
Everett had been told up front that her child’s chances of survival were slim. “He was fighting and fighting to breathe, fighting for his heart. He was on several different medications, some of which weren’t even made for children,” she said.
Because of the severity of Josiah’s illness, it was recommended that Everett not work. She applied for Social Security for him but was unable to get benefits because of his extended stay in the system. She also had her 21-month-old daughter, Sophia, to take care of, and although she had the help and support of family members, the young mother recognized that just because her world was spiraling didn’t mean that she could expect others to drop what they were doing to take on her problems. “No one’s life stops because you’re going through a crisis. Even though people are willing to help, they still have to live their life,” she said.
And even in her grief, she recognized that there was something wrong with the fact that prior to her son’s illness, she did not know what Marfan syndrome was. She also points out how Austin’s diagnosis, which rang bittersweet for her, brought national attention to the condition. “We just didn’t know about it … I think that people should know about it,” Everett said. “It shouldn’t take a national news story to make people aware of something so devastating.”
Marfan syndrome is a genetic disorder that affects the body’s connective tissue—which is responsible for holding all the body’s cells, organs and tissue together and affects how the body grows and develops. The most affected areas include the eyes, the musculoskeletal system and the heart. It affects about one in every 5,000 individuals and has been found with equal frequency among all races and ethnic groups and in all corners of the globe.
The effects on the heart are the most problematic, Dr. Juan Bowen—director of the Marfan Clinic at the Mayo Clinic in Minnesota, and a member of the professional advisory board of the Marfan Foundation—explained to The Root. “The biggest problem is because the tissues are weaker, the aorta tends to stretch out, and if it’s allowed to stretch for a long time and beyond a certain size, then the aorta can rupture. That’s the danger of this condition.”
And that is the danger in Isaiah Austin’s case. From this point forward, he is prohibited from playing competitive basketball.
“When you have these weaker tissues, there are national guidelines where expert groups have looked at the available evidence, and we have to follow guidelines that tend to give athletes limits,” Bowen said. “For example, people that have a condition like this can do moderate activity like jogging or cycling, but they can’t do bursts of extreme exertion, and they can’t take a chance with [an] impact that might hurt the aorta.
“A lot of tall children are being recruited to play basketball, so it is important to identify them so that they are not placed in danger like that,” he added.
Of course, it is especially important for people who are constantly around and involved with children to learn the typical markers of the condition and learn them well.
“Because the characteristics recognized often by parents, by teachers, by coaches, often are the key to the diagnosis, just a general awareness is most important. So … people [should] know that a tall, gangly child who has very poor eyesight should be checked. That would [make a huge difference],” Bowen said.
With increased awareness and knowledge of Marfan syndrome, and the appropriate treatment, the life spans of individuals with the condition can be extended to well within the normal range. Otherwise, individuals with the condition are prone to dying, on average, in their 30s, the doctor noted. In more severe cases of the condition, however, as with Josiah, the future is less promising.
For Everett, life is different now. Having had to quit her job to care for Josiah, she remains on public assistance. She was unable to get life insurance for Josiah because his condition was pre-existing. A friend has started a crowdfunding page in hopes of raising the $2,500 needed for Josiah’s cremation. If Everett can’t raise enough money before Josiah’s funeral on Saturday, she will owe the funeral home the balance.
Even with all of this hanging over her, she still finds moments to reflect on the impact Josiah made in his short life.
“People felt joy when they were around him, and he was a lovable baby,” Everett recalled, chuckling a little. “He loved when I sang to him. He was very feisty. He didn’t like … the mask they had to put on him. He was sick and just 3 and 4 months old, and I saw him literally almost lift himself out of the crib. So he was a fighter from day one. He was definitely a fighter.
“He liked to look around,” she added. “Until he got sicker toward the end, he was very attentive. He had beautiful eyes.”
Breanna Edwards is a newswriter at The Root. Follow her on Twitter.