From his very first breath, Vincent Taul defied expectations.
“We weren’t sure what to expect, but doctors main concern was how he was going to be able to breathe when he was born,” said Madeline Taul, Vincent’s mom.
Madeline recalls having a normal, healthy pregnancy until her 20-week ultrasound revealed something unusual.
“I noticed there might be something wrong,” Madeline said. “I remember my OBGYN saying she was concerned there was something missing in the facial area.’”
Uncertain delivery
After additional testing, doctors determined there were concerns with his nasal development. Unable to give a definitive diagnosis until after birth, the medical team prepared for every possibility.
“There were so many doctors inside and outside the operating room for my C-section [cesarean section], waiting for Vincent to be born,” Madeline said.
That fear began to lift when Madeline heard Vincent cry.
“Hearing him cry was such a relief,” she said. “I knew then he was going to be okay. The nurses held him up to me before taking him to the [neonatal intensive care unit], and I told him I loved him.”
A rare diagnosis
After he was born, Vincent, now 1 year old, was ultimately diagnosed with Bosma arhinia microphthalmia syndrome, commonly called BAM syndrome. It is a rare genetic condition affecting fewer than 100 people worldwide that has a few key characteristics:
- Absence or severe underdevelopment of the nose
- Eye defects
- Absent or delayed puberty
Vincent is Norton Children’s first patient with BAM syndrome. He was able to leave the Norton Children’s Hospital neonatal intensive care unit (NICU) after 32 days, but continues to receive care from several specialties including: genetics, endocrinology, ophthalmology, surgery, urology, cardiology, pulmonology and oral/maxillofacial surgery, in addition to primary care and the neonatal follow-up clinic.
“With something this rare, you want all the right expertise in the room,” said Kayla N. Evans-Judd, M.D., neonatal hospitalist with Norton Children’s Neonatal Intensive Care Unit. “We’re lucky to have all these subspecialists here so we can communicate easily and make sure all his needs are met.”
Vincent’s treatment includes a tracheostomy tube to assist with breathing and a gastrostomy tube for nutrition, though he has started oral feeding with help from a therapist.
“With BAM syndrome being so rare, I was worried we’d have to travel out of state to get everything he needs,” Madeline said. “I’m very grateful Norton Children’s has been able to provide all the care he requires here in Louisville.”
Making progress
Dr. Evans-Judd has overseen Vincent’s care both in the NICU and through Norton Children’s neonatal follow-up clinic. She believes his family has played a big role in the progress Vincent has made.
“He’s growing beautifully and making really excellent progress with his developmental milestones. He’s a feel-good story,” Dr. Evans-Judd said. “He has a very supportive, loving family at home. They’ve done a great job going above and beyond to ensure he’s thrived since going home from the NICU.”
That feeling is mutual, with Madeline grateful for the care her son receives.
“It’s mostly because of Norton Children’s that Vincent is able to live a normal life,” Madeline said. “It’s because of them that Vincent is now happy, healthy and thriving.”
Looking ahead
Vincent may have a nasal reconstruction surgery when he is around 5 years old. In the meantime, his care team’s focus is on supporting his growth, development and overall health.
According to Dr. Evans-Judd, despite the challenges BAM syndrome can bring, kids born with it typically have normal intelligence and are able to live full, happy lives.
“He’s sweet, fun and absolutely adorable,” Dr. Evans-Judd said. “Watching him thrive is truly wonderful.”