PRESQUE ISLE, Maine — After having an easy pregnancy with no health problems of her own and none detected for her unborn child, Amber York anticipated that she and her husband, Herbert York Jr., would welcome a healthy baby girl into a family that already included two other children. She had never heard of CHARGE syndrome.
The Presque Isle woman soon would.
The Yorks’ daughter Kayla, now 3, was diagnosed with the genetic disorder shortly after her birth in December 2007. Since then, the family has endured a difficult and financially challenging journey as they struggle to keep their daughter healthy and their family intact.
CHARGE syndrome is a genetic disorder that can cause multiple birth defects and occurs in about one in every 9,000-10,000 births worldwide, according to the CHARGE Syndrome Foundation. Children born with the disorder often have life-threatening birth defects, including heart and breathing problems. Most endure extended hospital stays and undergo numerous surgeries and other treatments.
Sufferers face swallowing and breathing problems, hearing loss, vision loss and balance problems that delay their development and communication. All are likely to require medical and educational intervention for many years and face lifelong challenges.
CHARGE stand for: coloboma of the eye, heart defects, atresia of the choanae or nasal blockage, retardation of growth or development, genital or urinary abnormalities, and ear abnormalities and deafness, according to the foundation. Children with the disease suffer from many of those problems.
Immediately after Kayla was born, Amber York, 27, said Wednesday, the doctors knew something was wrong. She was blue and having difficulty breathing, and she was put on a ventilator. She was rushed to Eastern Maine Medical Center in Bangor where tests indicated that the baby had choanal atresia. That blockage in the back of her nose blocked her airway, which was why she was having trouble breathing.
“I had never heard of CHARGE syndrome, and the doctors were not optimistic at all,” York said. “They told us that she would never talk or walk and that she was blind. We were so scared. It was just so shocking. We were told to expect the worst.”
The baby underwent her first surgery when she was 3 days old. The family brought her home a week before Christmas. Kayla has since undergone multiple surgeries on her heart, nose and ears and spent weeks in the hospital. She is legally blind, but has some vision in her right eye. She participates in physical, occupational and speech therapy and can say three words at this point. She can walk with assistance.
“She is strong and has endured all of her surgeries and hospital stays,” said York. “She learns fast. The biggest thing is that she gets sick every winter. She stays sick right through the winter until summer comes.”
Both York and her husband work full time, but the family endures financial hardship because of their daughter’s illness. All of Kayla’s doctors are in Portland, which means several multiday trips to the city, sometimes every two weeks. Since Kayla is sick so often because of a weak immune system, Amber York often misses several weeks of work every winter. Kayla has MaineCare but did not start receiving coverage until she was 9 months old.
“Financially, this has been a huge struggle,” York said. “We still have bills to pay from the first months of her life, since she didn’t start out with MaineCare. The cost of going to Portland so often and losing pay from work has hit us really hard as well. But those are things we have to do. Many of the doctors I encounter up here don’t know a whole lot about CHARGE syndrome. I find myself educating them a lot.”
York said that she and her 28-year-old husband also struggle to balance the needs of their 9-year-old son and 5-year-old daughter with those of Kayla.
“It is hard,” she admitted. “When we go to Portland, our other children want to go with us but often they can’t because they have school. So we have to send them to stay with relatives, and that is hard on them. We also find ourselves living paycheck to paycheck and still having to fall back on our parents. It is really difficult.”
Kayla already needs adaptive equipment such as hearing aids, leg braces and walkers, the cost of which is not fully covered by MaineCare. She will need lifelong care. The family recently discovered that she is not making growth hormone, so she will have to undergo treatment for that in the near future.
One of Kayla’s case managers contacted Helping Hands for Families and Children, a Presque Isle nonprofit that assists individuals and families in meeting their needs. The organization has agreed to accept any donations on the family’s behalf for Kayla’s medical needs, travel expenses, specialized equipment and other costs.
Right now, Kayla goes to day care when she can and is learning more words and walking skills from the other children. She is a “sponge” and a “social butterfly,” Amber York said Wednesday.
“Doctors have told us that some of her health problems may go away after the six-year mark,” she said. “But right now, we are just concentrating on keeping her as healthy as we can and getting her the care she needs. It is a struggle, but we are committed.”
To donate to the family, mail checks made payable to: Helping Hands for Children & Families, FBO Kayla York, P.O. Box 1116, Presque Isle 04769.