Magazine article The Exceptional Parent

Heather's Story; the Long Road for a Family in Search of a Diagnosis

Magazine article The Exceptional Parent

Heather's Story; the Long Road for a Family in Search of a Diagnosis

Article excerpt

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. …

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