Life With Liam

Nov 20, 2013

Life With Liam

Family finds hope at Franciscan Hospital

By Meaghan Casey

In an infant hospital bed at Franciscan Hospital for Children, 8-month-old Liam Medina brightens up the room with his laughter, despite being born with multiple pterygium syndrome—a rare disease, also known as Escobar syndrome, that causes webbing of the skin at the joints and restricted joint and muscle movement.

The webbing of patients with multiple pterygium syndrome typically affects the skin of the neck, fingers, forearms, thighs and backs of the knee. A side-to-side curvature of the spine is sometimes seen, as well as respiratory distress at birth due to undeveloped lungs and restricted ribs. The condition, which is evident before birth, is inherited in a recessive pattern, with both parents carrying one copy of the mutated gene.

Liam was diagnosed when his mother, Dr. Laura Aleman, was 28 weeks pregnant and underwent an ultrasound at Brigham and Women’s Hospital.

“They recognized something right away,” said Aleman, a native of Honduras, where she works as a hospital physician. She and her husband, Walter Medina, temporarily moved to the U.S. during her pregnancy. The couple also has an older son, age 6.

Aleman gave birth to Liam at Brigham and Women’s last winter. He was immediately connected to a ventilator because he was having trouble breathing on his own. After a week, he was transferred to Boston Children’s Hospital, where he remained in the neonatal intensive care unit for a month. He underwent two surgeries—one to insert a gastric feeding tube and one to insert a breathing tube. When he began to display more stability, he was transferred to Franciscan Hospital on March 4 to continue his care.

As one of the nation’s largest pediatric rehabilitation hospitals, Franciscan Hospital for Children has pioneered clinical, therapeutic and educational programs for children with a variety of disabilities. Its continuum of care includes inpatient, residential, educational, surgical, outpatient and home care programs.

“As a rehab hospital, we knew we would be taught how to better care for him,” said Aleman. “Despite being a doctor, all of this was completely new to me. Every different nurse that has taken care of him has been wonderful and taught us so much. We feel well prepared to take him home.”

“It was a learning process for all of us,” said Marjorie Jimenez, a physician assistant at Franciscan Hospital. “We had to start from scratch, reading about the condition and learning as we treated him. But no two children are the same, so no matter what the case, we’re here to treat the symptoms, not the disease.”

On a regular basis, the team of physicians, nurses, clinicians and educators at Franciscan Hospital has focused on Liam’s speech and movement through physical therapy, occupational therapy and respiratory therapy, helping him to reach his full potential. He has been followed closely by orthopedic specialists, and his range of motion has already improved since his arrival at the hospital. Liam will most likely need additional surgeries as he gets older, particularly related to his growth formation and skeletal anomalies. Plastic surgery may also be performed in the areas of webbing.

Through family-centered programs, the hospital’s staff has also worked closely with Liam’s family to prepare them for next steps, teaching them all the procedures they will have to perform on their own, such as changing his breathing tube. Liam will likely be returning home in November once his breathing is more stabilized.

“His ventilation has improved,” said Aleman. “He is breathing and eating much better and started to gain weight. It’s been wonderful – something we can see.”

Jimenez, who has been caring for Liam since his arrival, is thrilled with his progress.

“He’s developed in every way—cognitively and with his breathing and weight gain,” said Jimenez. “He’s laughing, dancing all the time. It’s been a joy to see.”

“He’s become very active and alert here,” said Medina. “He is growing, thriving and improving. Franciscan Hospital is in our hearts.”

See all MassBio News