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Heather's story; the long road for a family in search of a diagnosis.

My daughter, Heather, was born on March 13, 1985. At that time, she seemed to be a normal, healthy infant with no noticeable problems.

Once we brought her home, she slept in a bassinet next to my side of the bed. Almost immediately, I noticed that while she slept, she would jerk and arch her back, sometimes so loudly that I would wake up. Since Heather was our only child, we were not quite sure what "normal" newborns do in their sleep, and a call to our pediatrician assured us not to worry. Except for the unusual sleeping pattern, Heather seemed to be a perfectly normal, happy infant.

At six months of age, Heather could still not sit up, even when supported, or roll over. Her pediatrician told us that not all infants develop at the same rate, and that we should not worry.

When Heather was eight months old, at which time she still could not sit, we were referred to a neurologist. After a lengthy exam, the neurologist confirmed our worst fears: Something was wrong. Heather's slow development was not normal. The neurologist ordered a battery of tests, including a CAT scan of the brain, an EEG, and various blood tests that included a chromosome test to rule out several disorders. All of the tests came back entirely normal. At this point, we were told that Heather, like many children, was "developmentally delayed due to unknown causes." We were given copies of all the tests and sent to another neurologist to confirm the diagnosis.

The second neurologist agreed with the first one and gave us the additional diagnosis of cerebral palsy. He suggested that we start looking for therapists to help us with Heather's development.

With the help of her new therapist, Heather mastered sitting-up at the age of 13 months. At the age of two years, our beautiful, blonde, blue-eyed daughter had her first grand mal seizure. Since she also had the flu at this time, it was assumed the seizure was due to a high fever.

A week later, with her flu gone and temperature normal, Heather began to have multiple seizures. An EEG was done which came back as "minimally abnormal." Heather was given several different medications over the next few months, and finally the seizures were brought under control. Three years later, she remains seizure-free as long as she gets her medication.

After reading an article in the July 1986 issue of Exceptional Parent about Rett syndrome, I got the name of Neurologist #3. He specialized in hard-to-diagnose children and was only an hour's drive away. After he examined Heather, he determined that she probably did not have cerebral palsy, but wasn't typical for Rett syndrome either. At this time, she was three years old, and could not walk or talk and chewed a great deal on her toys, her fingers, etc. The neurologist advised us to continue with therapy and to continue to monitor her progress.

At three and a half years of age, Heather began to be interested in the upright world, and started to pull herself up on the kitchen table, the sofa, etc. At four and a half, she started to walk.

We got a video camera and made a movie of her walking and sent it to Neurologist #3. He telephoned us and said that he had viewed our film and, from the manner in which Heather walked, he thought she might have Angelman's syndrome, also called the "Happy Puppet" syndrome. The reason for this is children with Angelman's walk with a stiff, ataxic gait with their arms upright, thus resembling a puppet on strings. This certainly did sound like Heather, and we took her in for a complete exam.

During this visit, which took place one month after Heather's fifth birthday, our doctor ordered a chromosome test called a G-banding analysis. We thought Heather had previously undergone a complete chromosome study, but found out that a G-banding analysis is not a part of a routine" study and is only ordered when a specific problem is suspected. In Heather's case, the G-banding analysis showed a deletion on the long arm of the 15th chromosome, which is the typical result for Angelman's syndrome. (It is important to note that not all Angelman's children have this deletion of the 15th chromosome.)

It took us five years to finally find out why Heather has had her delays and behavior. There are many "clues" to Angelman's syndrome, but not all children have all the signs. Also, not all children fit into the mold. For instance, some children are not blonde and blue-eyed, but rather dark-haired and dark-eyed. There are some children with Angelman's who can say some words.

The following are some of the "clues" that led Heather's doctor to the diagnosis of Angelman's syndrome:

* Developmental delays (slow to sit, walk, etc.)

* Absence of speech

* Drooling

* Happy, smiling and social

* Light hair and light eyes

* Busy, easily distracted, hyperactive

* Aggressive behavior (pinching, hair-pulling, etc.)

* Walks with stiff gait, ataxic, arms up

* Difficulty with sleeping, awake during the night, unable to unwind easily

* Frequent laughter

* Chews a lot (on toys, fingers, etc.)

* Poor fine motor control (hands may tremor, especially when upset or ill)

* Seizures

My doctor told me that, in addition, there are many other clues that point to Angelman's, such as a protruding tongue, which did not apply in Heather's case. He also explained that Angelman's syndrome occurs in both females and males.

After Heather's diagnosis, with the help of Exceptional Parent and the National Organization for Rare Disorders (800-999-NORD), I discovered the Angelman's Research Group located at the University of Florida in Gainesville. Here, a group of dedicated people, such as Dr. Charles Williams and Jill Hendrickson, are looking for the answers to Angelman's syndrome. They also publish a newsletter for parents and anyone who is interested in learning about this disorder.

It was after reading one of the newsletters that I discovered that there are other children like Heather who cannot sleep in a regular bed. After Heather outgrew her crib, my husband had to build a special bed with high sides (like a huge crib) that Heather could be in safely. We had always thought that we were unique in dealing with a child like Heather. Yet, we suddenly found out that there are many other families who have the same problems and solutions.

It was through the Angelman's Research Group that I met other families with children like Heather. I have found that their children had originally been diagnosed with various disorders, such as cerebral palsy, Rett syndrome, mental retardation, epilepsy, and, the most common, "developmental delay of unknown origin." We are the lucky ones. We now have a diagnosis, and we have each other for education and much-needed support.

Diane Wilcox lives in Arcadia, California, with her husband/ "Saint," Scott, and her daughter, Heather. In addition to caring for Heather, Diane spends her time conducting outreach to both the medical community and families about Angelman's syndrome.
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Author:Wilcox, Diane
Publication:The Exceptional Parent
Date:Mar 1, 1991
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