Newswise — Five years ago, Elena Chubanyuk looked to doctors for answers about her newborn son, Denis. His head and face were misshapen and his eyes bulged. Because of a sunken middle face, he could only breathe through his mouth. At times, the baby gasped for air. His fingers and toes were fused. His hands looked like mittens.
Elena and her family live in a small town near Penza, Russia, about 400 miles southeast of Moscow. She sought help for Denis, but there were no doctors who knew how to treat his condition.
Seeking help
She and her husband, along with their two older sons, did their best to care for their fragile baby. When breathing became a struggle, Elena created her own device, “He could not breathe and I made a little tube and it had a hole, so he could breathe through it.“
Then, doctors told them Denis has a genetic condition called Apert syndrome.
She explains, “We didn’t get the diagnosis until he was 12 months old. They kept saying he had many different problems, but they could not diagnose his syndrome.”
The Chubanyuk family learned Denis’ condition is not common. Elena says, “It’s a very rare disease and very few surgeries were performed in Russia.” Sadly, most surgeries to treat the condition were not successful. They decided to look outside Russia for medical help.
Cruelty and hope
Because Denis didn’t look like other babies, people said cruel things about him. There were even some that actually threw stones at him.
Then, with the assistance of a nonprofit organization, Kongkrit Chaiyasate, M.D., craniofacial surgeon with Beaumont Children’s Hospital and the Ian Jackson Craniofacial and Cleft Palate Clinic in Royal Oak, Michigan, accepted the family’s request to help Denis.
Before this news, Denis’ future looked grim. “For a long time, we didn’t believe he was going to make it. It was really difficult. We had no hope or reassurance that he was going to live,” Elena recalls.
About Apert syndrome
Apert syndrome is a condition in which the cranial sutures, or seams between the skull bones, close early and fuse prematurely. This prohibits the brain from growing,” says Dr. Chaiyasate. “Sutures are not supposed to fuse. They are supposed to allow the brain to grow with the baby. In a healthy baby, the brain will double in size in six months and triple by 12 months.”
While there is no cure for Apert syndrome, this complex condition can be treated. Life-threatening symptoms can be managed through a series of surgeries. The procedures take place as a child grows from infancy through their teens, and beyond.
Explains Dr. Chaiyasate, “If you don’t treat it early, the baby could have a permanent cognitive dysfunction from pressure build-up inside the skull. Our surgical team’s goal is to decompress that pressure. This is done by surgically breaking the skull, allowing it to expand and the brain to grow.”
Round 1
Speaking little English, Elena and 18-month-old Denis embarked on a 4,800 mile trip to Metro Detroit in the spring of 2012. Upon arrival, extensive assessments and examinations took place at Beaumont Hospital. Then, on July 3, Dr. Chaiyasate and his medical team performed their first surgery on Denis, known as a monobloc osteotomy advancement procedure.
Says Dr. Chaiyasate, “We advanced the skull forward. We advanced the eye socket and the nose, in one piece. So now, his eyes are better protected. He’s breathing better and there is more room for the brain. We accomplished three goals in one surgery.”
Elena says, “I first realized Denis could have a future after his first surgery with Dr. Chaiyasate. He has golden hands.”
In the second procedure, surgeon Jefrey Fishman, M.D., separated Denis’ fused fingers and toes.
Extended family
Before Elena and Denis came to Metro Detroit for their first visit in 2012, they did not know one person. Now, they have an extended family, the Rostanets of Commerce Township, who provide housing, transportation and translation services. While it is a hardship to be away from her husband and sons for more than six months at a time, the Rostanets do their best to make them feel at home. Alex Rostanets’ son-in-law, William Thompson, M.D., is a Beaumont physician.
Round 2
Fast forward to fall of 2015, Denis is now 5 years old and about to undergo the second round of surgeries. In mid-November, Dr. Chaiyasate and his team will focus on the middle of Denis’ face – moving it forward and making it more proportional. This will allow Denis to speak better and breathe through his nose.
“We have the technology and ability to help children like Denis,” says Dr. Chaiyasate. “Our team is happy to give him a more normal life that he deserves.”
Future
Plans are already underway for Round 3 of surgical procedures. Dr. Chaiyasate and his team will follow and monitor Denis until he’s an adult.
As for the future, Elena explains through an interpreter, “As any parent would, I wish for my kids to be healthy, well-educated and smart. I believe that can now happen for Denis. He is a very curious little boy who likes the Internet, cars and computers. He is a fast learner. I believe his future is going to be very bright.”
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