This story originally appeared in the Feb. 24 issue of the Community Voice. For a subscription, call 270-384-9454.
Billy Appleton still tears up a little when he thinks about it. Seven years ago, just three days after her birth, Appleton spent a horrific night holding the lifeless body of his young daughter Jocelyn. Her birth went well, but Appleton said something just didn’t feel right to him. His baby girl just didn’t look like she should, and she had even stopped breathing earlier in the night.
“I refused to let them kick me out of the hospital,” Appleton said. “I didn’t want to go home and have my child die. I did everything I knew to do to help, and I just held her and started praying. At the end of the prayer, I looked down and she is looking up smiling at me.
“I wasn’t taking no for an answer, and we were going to get some answers. When they told me she had Angel- man Syndrome, I just said, ‘What.’ Everybody knows what Downs Syndrome is, and everybody knows what autism is. Angelman Syndrome? It was shock and awe.”
Angelman syndrome (AS) is a rare neuro-genetic disorder that occurs in one in 15,000 live births or 500,000 people worldwide. It is caused by a loss of function of the UBE3A gene in the 15th chromosome derived from the mother, according to the Angelman Syndrome Foundation.
AS shares symptoms and characteristics with other disorders including autism, cerebral palsy, and Prader-Willi syndrome. Due to the common characteristics, misdiagnosis occurs often.
People with Angelman syndrome have developmental problems that become noticeable by the age of 6 – 12 months. Other common signs and symptoms usually appear in early childhood like walking and balance disorders, gastrointestinal issues, seizures and little to no speech.
Unfortunately, AS has affected children in the local area. Besides Jocelyn, Izzie Mae Bryant, the daughter of Mer-cedes and Easton Bryant, is also an Angelman Syndrome survivor. Jocelyn is a second grader and Izzie Mae is in preschool at Adair County Primary Center.
“Izzie Mae had a hard start at life,” Mercedes Bryant said. “She had colic and reflux so bad that she had failure to thrive. At six months old, we knew something was off and she was behind.” Numerous doctor visits followed, including trips to see specialists at Vanderbilt University, Cincinnati Children’s Hospital, and the University of Louisville.
“I was definitely getting frustrated at that time because deep down I am feeling something was off with Izzie,” Mercedes said. “But we just kept our faith and kept doing all we could for early intervention for Izzie. When we went to the University of Louisville, not even five minutes into the visit, the doctor asked me if I had ever heard of Angelman Syndrome. He said, ‘I think that’s what she has.’
“When he said that, deep down I knew he was right. The peace that only God can give came over me. It is so hard being in the unknown and not having the answers. Finally having the answer and having a peace about it, my soul was at such a good place.”
Appleton said the best way to explain how AS affects a child is they have the functionality and comprehension of someone with Downs Syndrome and the communication and understanding of somebody with autism.
“Jocelyn understands like us, but she doesn’t remember well,” said Hannah Colvin, who has been with Appleton for three years. “Telling her not to do something is an over-and-over process. Her pain perception is different than most. She might go over and stick her hand on the hot oven, and it take a while until she realizes it is hot. Jocelyn is very food oriented and her cutoff valve when she is full doesn’t work. She is always hungry.”
Mercedes credits the local school system, the staff at ACPC in particular, for having a big role in how Izzie Mae has developed.
“We try to live as normal of a life as possible,” Mercedes said. “Izzie is doing things that shouldn’t be possible, she walked at 21 months. She is a rock star, and we are blessed to have her.
“And that includes learning. I don’t have anything negative to say about ACPC. To be the parent of a child that can’t speak for themselves, but they have so many people in a school system that love them, care about them, pray for them and believe in them, there is nothing that compares to that.”
Appleton and Colvin say even though they love Jocelyn with all their hearts, parenting a child with AS is “no walk in the park.” Angelman Syndrome kids don’t sleep much and can go three or four days without sleeping. They have installed alarms on their windows and all doors because Jocelyn has gotten outside and taken off down the highway.
“Angelman kids are gifts to us,” Appleton said. “Seven years ago, God could have given us a ‘normal’ kid and he could have given Jocelyn to a family that may have had her aborted or given her up for adoption. He didn’t, he gave her to us. I am dad, and she’s mine. She is my little girl, and I will fight for her.”
“Izzie’s future is very bright, and I truly believe she will do all things,” Mercedes said. “There are many clinical trials going on. I have even spoken to moms with children in the trials and after one dose, the children went from non-verbal and saying nothing to saying up to eight words with one dose. Science is amazing.”
Mercedes said over the years she has had 18 people, some she knew and some she didn’t, tell her they dreamed about Izzie Mae speaking.
“To see a child do something that doctors said she would never do, our pride is immeasurable,” Mercedes said. “I can’t tell you what the future holds for Izzie, but I know it holds nothing but good things. One day, we will hear her voice and we will hear her speak. I can’t wait for that day.”
By Scott Wilson