One in 10,000 babies is affected by CHARGE Syndrome. Anabelle is one of them. According to doctors, Anabelle should be deaf and blind. She should need to be fed through a feeding tube. Thanks, however, to a dedicated team of medical professionals and modern advances, Anabelle is achieving what doctors said should be impossible. Read on to learn more, or follow the original story here!
Anabelle’s mother, Sara had an uneventful pregnancy. Sara would even describe her pregnancy as going perfectly. Complications didn’t occur until Anabelle was born.
Anabelle was born abnormally small. Especially for a full-term pregnancy. Anabelle came into this world weighing only four pounds and 11 ounces.
Her mother was able to hold her for only the shortest of moments before Anabelle began to have trouble breathing. Hospital staff took Anabelle and placed her out of reach on a table as a team of doctors and nurses rushed into the room. Sara and her husband had no idea what was going on.
The neonatal unit at the University Hospital of Wales became Anabelle’s home for a while. She was placed on a ventilator to help her breathe. She had her first surgical operation to remove blockages in her nasal passages. Initially, doctors thought she only had an infection. Seeing her new baby under so many examinations, tests, and devices was difficult for Sara.
Then they discovered Anabelle had CHARGE Syndrome.
CHARGE syndrome is a rare genetic disorder. It is named by an acronym which describes its symptoms. Coloboma of the eye, heart defects, atresia of the nasal choanae, delay of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness. Doctors told Sara and her husband Tom that Anabelle was blind, and unable to swallow. A few months later they discovered that Anabelle was also deaf. To learn more about CHARGE syndrome, click here.
Perhaps most upsetting was that Sara was sent home from the hospital but had to leave Annabelle behind. They had already set up a space for Anabelle to live with them at home, and they had to leave her alone with only nurses and doctors. Sara would drive to the hospital just to hold her daughter for several hours each day. For five months, Sara and Tom would travel form their home to the Noah’s Ark Children’s Hospital for Wales every day. Difficult as it was, Sara says holding Anabelle was often enough to get her through.
“We just focused on her and thought she was amazing, she’ll get us through it,” says Sara.
When Anabelle was four months old, Sara began to notice that she responded to lights. She would reach for her favorite bucket – a red one. A team of doctors was brought in to examine this new development. They discovered that Anabelle could see about a foot in front of her. Thanks to cochlear implants, Anabelle is able to detect sounds now too.
That might not sound like much to people with full range of sight and hearing, but for Sara and Anabelle it’s nothing short of a miracle.
“If I could have seen how she is now when I was back in those early days I wouldn’t have worried so much. She’s absolutely amazing – proud doesn’t come close to how I feel,” Sara says.
Sara can now read and sing to her baby. Anabelle is developing a wealth of interests and curiosities. CHARGE syndrome may have been a surprise, it has and will continue to bring a long list of challenges– but Anabelle wasn’t supposed to be able to do any of the things she’s doing now. Who knows what she’ll be doing next!
