At age 2½, Mason Mrdutt was a happy and observant little boy.
Mason Mrdutt with parents Jen and Chris Mrdutt, Mosinee
Born with a genetic condition known as velocardiofacial syndrome, or VCFS, he has received care from almost all of the pediatric specialties at Marshfield Clinic.
The son of Jen and Chris Mrdutt (pronounced mer-DUTE) of Mosinee has had care from pediatric specialists in cardiology, gastroenterology, genetics, immunology, physical medicine, otolaryngology (ear, nose and throat), neurology and speech pathology.
His young life got off to a rough start from the time he was born in Wausau and his parents noticed he had rapid breathing and sweating.
On day 3 a heart murmur was detected, and they were urged to take him to a pediatric heart specialist in Madison. When they balked at traveling so far with a newborn during a typical Wisconsin January, they were instead referred to Pediatric Cardiology at Marshfield Clinic.
Several tests showed that Mason had four heart deformities, some of which had to be surgically corrected.
He was checked by a geneticist, who ordered specialized blood tests that revealed he was missing part of chromosome 22 and some of the genes it carries.
He later was treated for severe reflux and failure to thrive, a seizure disorder, cerebral palsy, a speech disorder and other problems.
"We're so grateful we went to Marshfield," Chris Mrdutt said.
"The first two weeks were crucial for keeping on top of things. They could have gotten a lot worse. It was rough in the beginning when we got the call from genetics, but we already kind of knew," Jen Mrdutt said.
Mason has made incremental progress since then but still has muscles that do not function the way they should. When his parents help him walk, his legs "scissor" underneath him.
And though he can hear and see stimuli, he can't verbally react to them. "The delays are hard," his father admitted. "But he's such a happy kid. If things are shut off, they're shut off to happy because he's always smiling and giggling."
Jen Mrdutt compared Mason to a nine-month-old in terms of development. "But he notices everything. He can tell when we're going past my parents' farm and he'll get all upset that we're not pulling in, but when he realizes we're going to his cousins' place, he's all happy again. And he does enough new things that we don't get frustrated."
Special health care needs
The child's medical "home" is at Marshfield Clinic Wausau Center, through Pediatrician Lori Shepherd, M.D. She has an interest in children with special health care needs.
"I'm an advocate and the lead person in my patients' care. That's how I see my relationship with the child and his other providers," she said.
She has made emergency referrals for Mason on several occasions.
"She's been fantastic," Jen Mrdutt said of Dr. Shepherd. The doctor returned the compliment, saying "They've been wonderful parents. I'm always amazed by what parents can do."
Doctors credited the parents for handling an incredibly difficult situation. "We're trained to do it but the parents' job is harder than ours," said his pediatric cardiologist. "All parents have hopes and dreams for their kids, but theirs are different now, and it must have been a hard realization over the last couple of years. Still, he's in good hands, and they love him unconditionally."
"People ask us how we handle it," Jen Mrdutt said. "But he's our child. How can we not do it?"