Local family living with Angelman Syndrome
By Catherine Hosman
One of the first things you notice about Nicolas Hurtado, 11, is a smile that never seems to fade. Then there’s that twinkle in his eyes when he looks at his mother, Fabiola. Like most kids his age, he has a fascination with cell phones and holds one in his hands and presses the apps while his mom visits with another adult. His favorite thing to do, however, is to take photos.
But there is something different about him as well. He often raises his arms over his head, flailing, and he cannot speak. He communicates with his mother through grunts, hand gestures and body cues that only she understands. Nicolas, a student at Bill Burden Elementary School in Liberty Hill, has Angelman Syndrome, a disease discovered in 1965 by Dr. Harry Angelman, a British physician.
According to the Angelman Foundation, AS is a neurological syndrome that causes a list of symptoms including developmental delay, lack of speech, balance disorder, always a feeling of happiness, an unusual gait and tremors. Most patients also suffer from epilepsy. Because some of the symptoms are similar to cerebral palsy and autism, the illness is often misdiagnosed.
Searching for answers
Nicolas was only five months old when his mother suspected something wasn’t right, but she couldn’t imagine what it might be. His head was misshapen, flat in the back, one of the many symptoms of AS, and when she held him he felt different.
“He felt tight, tense and he wasn’t developing according to his age,” said Mrs. Hurtado, who works for a pain management clinic.
She didn’t want to believe that anything might be wrong with her son, but it was her mother, Amada Mondragon, who finally convinced her that she should take him to see a doctor. But a trip to the doctor didn’t give Mrs. Hurtado and her husband, Florenzo, the peace of mind they sought. The family doctor told her that every baby is different and develops at different stages and at different paces. No tests were done that day. Still worried about her baby’s health, she took her son from doctor to doctor seeking a second and third opinion, but still no diagnosis.
By the time baby Nicolas was 10 months old, he was in a Head Start program when she was told by one of the staff that her son may need “some assistance.”
“Head Start has a program called Early Childhood Intervention,” she said. “They brought in ECI therapists to assess Nicolas, to see what might be going on with him, why he was delayed to his natural age.”
It was suggested that she follow up with a neurologist and hematologist to have her son tested. Since Nicolas’ symptoms were common to Angelman Syndrome, the hematologist ordered a FISH (fluorescent in situ hypbridization) test to check for a missing Chromosome 15.
“They had an assumption, after seeing Nicolas always happy, very tight, but they weren’t sure,” Mrs. Hurtado said, wiping away a tear remembering the day her son was diagnosed. “The blood work came back positive for deletion (maternal) Chromosone 15.”
According to the Angelman Foundation, AS is a neuro-genetic disorder that occurs in one-in-15,000 live births. Other characteristics of the disorder include tongue thrusting, wide mouth with spaced teeth, drooling, hyperactive lower extremity deep tendon reflexes, increased sensitivity to heat, a fascination with water, abnormal sleep/wake cycles, and in older children, obesity, scoliosis and constipation.
Individuals with Angelman Syndrome typically require life-long care. AS is also sometimes mistaken as Prader-Willi Syndrome, when the fraternal chromosome 15 is missing, and further testing is required to make a clear diagnosis.
“It was scary,” Mrs. Hurtado said. “You are not prepared. Many things go through your head. ‘Can I do this?’ you ask yourself. ‘Am I going to be alone?’ I learned how to take it day by day.”
Living with Angelman Syndrome
Since being diagnosed at 18-months, Nicolas has been taking anti-seizure medicine for his epilepsy and behavior medicine to keep his moods leveled. He has his own team of specialists and attends private physical therapy sessions. Because of his unusual walking gait he walks on his tiptoes. He has already endured one surgery on his left heel cord extension and will have his right heel done in the future.
“It’s important for your doctor to answer questions,” she said. “It’s important that the doctor and parents can sit down and discuss concerns. It’s a patient-medical team.”
Mrs. Hurtado said that when Nicolas was first diagnosed, they didn’t know any other parents whose child suffered from AS. Social media became her ally as she learned more about the disease through the Angelman Syndrome Foundation and dedicated Facebook pages.
“We were able to ask (other parents) what their experiences were,” she said. “As time went by, we made other friends and connected to other parents.”
For parents who think their child may be different, Mrs. Hurtado said “look for services that can assist you. School is great and Head Start’s ECI program helped by helping us get an early diagnosis, early treatment.”
In the meantime, Nicolas just wants to be one of the kids. He has been a student in Liberty Hill since the second grade and like other kids his age he loves recess, lunchtime, activity time and the reading circle.
Mrs. Furtado said her oldest son, Florenzo, Jr., 13, knows he has a special brother like no one else.
“As Florenzo grew older, he understood more,” she said. “Now they are the best of friends. He looks out for Nicolas.”
Like most brothers, their bond is tight and they enjoy doing things together like wrestling, watching movies and jumping on the trampoline.
“Nicolas is just your typical kid who wants to have friends, who wants to play,” Mrs. Hurtado said. “He may kick the ball, but he may kick it in a different way … but he will kick it. He’s just Nicolas, he’s just being himself.”