ANDOVER, Mass. (AP) - Lynette and Nathan Elam knew their life was going to change the day their son was born two years ago, but little did they know how much.
After an average pregnancy with routine testing that left the couple expecting a healthy baby boy, on Sept. 11, 2016, their first child, Anderson “Andy” Elam, was born with a condition known as neonatal Marfan syndrome.
“It was a big surprise when he was born,” said Lynette, who grew up in Andover and works as an attorney at Goodwin Proctor in Boston. “We did all the standard testing, but he was born with a rare genetic disorder. It was a shock. We were expecting a healthy baby. It was kind of like all our hopes and dreams for our baby were dashed in an instant.”
In 75 percent of cases, Marfan syndrome is passed down genetically from a parent, Lynette said. She and Nathan were tested after Andy was born, however, and neither has the gene. Andy has Marfan syndrome because of a spontaneous mutation.
“It’s been a crazy ride,” Lynette said. “I feel like I am getting a second degree in medicine and being an advocate for my son.”
According to the Marfan Foundation website, the syndrome is a mutation that causes the body to make too much of a certain protein, which then creates problems with connective tissues. As a result, Marfan syndrome can affect many different parts of a person’s body, including the heart, eyes, blood vessels, bones, and joints.
Andy has 26 doctors and therapists at Boston Children’s Hospital and the Professional Center for Child Development in Andover.
He is blind, has severe scoliosis and two lung conditions - emphysema and bronchomalasia. For the first six months of his life he needed an oxygen tank and today he has a feeding tube as a result of surgeries.
“Basically connective tissue is kind of the glue that binds the body together,” Lynette said. “Because of that, many systems of my son’s body are affected.”
Andy has been hospitalized six times, including the days he spent following his birth at the NICU at Beth Israel Deaconess Medical Center in Boston, his mother said. He’s had several surgeries, including procedures done on his diaphragm and eyes.
The life expectancy for a child born with neonatal Marfan syndrome is two years, Lynette said, although treatments continue to improve and new research is coming forward.
“He has pretty much every symptom under the sun,” Lynette said. “We’re figuring out more as he gets bigger.”
Andy is a happy baby boy despite his condition, Lynette said.
“He is the classic almost two year old,” Lynette said. “Very opinionated. He loves light-up toys and exploring his voice. Because of his disorder he has delays as far as milestones go. He’s very happy. He loves to smile. He loves to make people laugh. When he’s doing something he knows is funny he will keep doing it.”
According to the Marfan Foundation website, one in 5,000 people have the disorder. People have died unaware they had Marfan disorder because they were not aware of the symptoms, such as the playwright and composer Jonathan Larson, who wrote “Rent.”
“Marfan kind of has a spectrum,” Lynette explained, adding that neonatal Marfan syndrome is severe. Usually the disorder doesn’t become apparent until a child begins to go through puberty because it causes excessive growth.
After Andy was born, the Elams turned to the Marfan Foundation for information and help. The foundation connected the couple to other families affected by the disorder who could share their stories. Lynette said while these connections were tremendously helpful, they were also a little scary. Two of the children from families she was connected with had heart transplants as a result of the disorder.
The Elam family participated in last year’s Walk for Victory, an annual event in Boston Common sponsored by the Marfan Foundation. The Elams raised $22,000 for the walk. The event raises money for research and for programs to help families affected by Marfan disorder, as well as other connective tissue disorders.
Their dedication to the cause caught the attention of the foundation, and the couple was asked to join others and co-chair the 2018 Walk for Victory.
By June 12, the couple had raised $18,336 for the 2018 walk. Around 30 people will join the Elams at the Walk for Victory on June 23.
“We would love to raise awareness of Marfan and get people to recognize the signs,” Lynette said. “The Marfan foundation’s mission is raising awareness. It’s very important for people to know what it is to prevent the potential death of someone who has it.”
“We’d love any support from people would like to give to team Andy,” Lynette added. “Thinking of us, donating, or participating in the walk. It’s a great event.”
“Overall, I would like to raise awareness for people that are different,” Lynette said. “This really can happen to anyone.”
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Information from: The Eagle-Tribune, http://www.eagletribune.com
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