The heartbreaking scenario was all too familiar to Mandy and Chris. More than halfway into their pregnancy, they learned their unborn child, Madden, had severe chest and rib deformities. They were told he wouldn’t be able to breathe after birth and wouldn’t survive.
Five years prior, the Florida couple was pregnant with their son Jake when they received the exact same diagnosis. Sadly, Jake passed away about 40 minutes after birth. Receiving the news for another child was earth shattering.
“There was no hope,” recalls Mandy.
The remainder of the pregnancy was an emotional rollercoaster. The couple tried as best they could to enjoy their time with Madden while he was still in Mandy’s belly, and worked with their physicians to make a plan for how they would say goodbye to him after birth.
Overcoming the odds
After delivery, extended family members and a priest joined the couple to baptize Madden and spend what they thought would be just a few moments together before he passed away. Then, to everyone’s surprise, as Mandy cradled Madden on her chest, he started nursing.
“That wasn’t supposed to happen,” says Mandy. “The whole hospital was shocked.”
Madden’s chest was very small and he was breathing rapidly, but he was pink and his Apgar score was 9. He was taken to the NICU for observation. The neonatologists doubted he would survive the night, but by morning his vital signs were still good and he didn’t need any breathing support. After a few days, the NICU team started talking about discharging him home.
“We hadn’t planned at all to bring him home,” says Mandy. “We didn’t have a single diaper!”
After nine days in the NICU, Madden was discharged, but it wasn’t long before he started having problems. His chest was so small, it was a struggle for him to breathe and eat. He was in and out of the hospital for the first few months of his life with gastroesophageal reflux. One episode of reflux was so severe he stopped breathing and almost died.
Center for Thoracic Insufficiency Syndrome offers hope
The care team at their local children’s hospital was at a loss for what to do, so Mandy scoured the internet for help. She came across a testimonial from a mom whose child was thriving after being treated by the late Robert Campbell, MD, a physician and surgeon who founded the Center for Thoracic Insufficiency Syndrome at Children’s Hospital of Philadelphia (CHOP). Dr. Campbell invented the vertical expandable prosthetic titanium rib (VEPTR), a device that expands the rib cages of children with chest wall deformities that affect normal breathing and lung growth. The center continues Dr. Campbell’s legacy, offering hope and an improved quality of life to children with even the most severe and life-limiting TIS. CHOP is one of the few institutions in the country that offers VEPTR treatment, performing more than 200 VEPTR and other complex procedures each year.
Mandy immediately contacted the center and made an appointment for Madden. After a full evaluation, Dr. Campbell confirmed Madden’s diagnosis as Jeune syndrome, a rare bone condition that causes life-threatening skeletal abnormalities. Without treatment, children with Jeune syndrome slowly run out of room to breathe. Dr. Campbell also discovered Madden had cervical stenosis, a condition in which the spaces within the spine are narrow, putting pressure on the nerves in the spinal cord.
“He could have been paralyzed at any point from that,” says Mandy. “No one had even mentioned that to us back home, but Dr. Campbell knew immediately to check for that.”
The long and winding road of care for Jeune syndrome
Madden’s journey at CHOP was riddled with twists, turns and bumps, but Dr. Campbell and the center’s multidisciplinary team were there every step of the way with a solution that has improved Madden’s quality of life. At 5 months old, a neurosurgeon operated on him to create more space within his spinal canal and relieve the pressure on his spinal cord caused by the cervical stenosis. When Madden struggled to gain weight due to reflux, the CHOP team placed a gastrostomy-jejunostomy feeding tube (GJ tube) in his stomach and small intestine to give him the strength and nutrients he needed to get through VEPTR surgery. When he struggled to recover from his first VEPTR expansion, the care team suggested a tracheostomy, given his need for more constant ventilator support.
There were moments it seemed like Madden wouldn’t make it. He coded and needed to be resuscitated nearly 10 times in his first year of life. But once the tracheostomy tube was placed, Madden blossomed. After spending almost his entire first year and a half of life in the hospital, he was finally discharged home.
Living his best life
All that time in a hospital bed set Madden back a bit developmentally, but after just a few months at home, he was thriving.
“He just kind of woke up,” says Mandy.
When the family returned to CHOP for Madden’s next VEPTR expansion, the care team couldn’t believe how well he was doing. His GJ tube has now been removed, he hasn’t needed any hospitalizations for anything other than his VEPTR expansions, and each one of those has gotten easier because he’s getting stronger and stronger. He recently graduated from preschool and was able to walk across the stage to get his certificate without a ventilator.
He still needs his ventilator for a lot of things, but he doesn’t let that stop him from doing what he loves. He plays in a special needs football and soccer program, running around the field as his parents carry his ventilator.
“We always figure out how to make it work for him,” says Mandy. When she asked Dr. Campbell if she should limit Madden’s activities because of the VEPTR implants, he said, “I can always fix broken hardware. I can never fix a broken spirit.”
“Without Dr. Campbell and the whole team, Madden wouldn’t be here,” says Mandy. “We first looked at Madden’s life in terms of minutes, then days, then weeks, then months. Now we don’t look at it that way. We credit all of that to the team at CHOP. It’s just amazing how they transformed our lives.”