We first heard of Rett Syndrome through a friend, who ran across it while surfing the internet. Chelsea did not have all the symptoms, but seemed to fit a specific few. One of them is that girls with RS have very expressive eyes that seem to stare right into or right through a person. Also, as infants, girls with RS are described as very complacent with a tendency to let the world act upon them instead of the other way around, as with ‘typical’ children. This describes Chelsea as an infant perfectly. She did not cry at birth, never cried to be fed, I often had to wake her for feedings, and was extremely easy-going. She batted at toys very early, but by 4 months, preferred faces and only showed interest in an object if someone else was playing with it. Her dad and I often wondered at her incessant scratching on her torso. I was often told it was a “sensory issue” or some sort of self stim behavior.
We asked her neurologist about Rett Syndrome about the same time he was considering the muscle and skin biopsy. This was just before the discovery of the gene mutation responsible for RS, so there was no blood test yet. Diagnosis was based on a strict set of clinical criteria, which her neurologist said she lacked. She did not wring her hands and was not autistic, so she could not have Rett Syndrome.
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It was a second opinion that finally got us in the right track. We had Chelsea referred into Shriner’s Hospital for Children in Chicago through a family member. We did this after Chelsea’s local neurologist ended diagnostic testing, believing firmly that she had a mitochondrial cytopathy. The neurologist we saw at Shriner’s had a different opinion about Chelsea’s condition. He was not convinced that she had mito at all, but at first leaned toward white matter diseases of the brain due the gliosis and extremely mild atrophy shown on her MRI’s (by this time she had 2 MRI’s). He ran his own battery of tests for a few years without any results. During an appointment in the summer of 2004, he asked us a series of questions that Jeff and I answered ‘yes’ to; “does she ever laugh for no reason?” “are her motor movements jerky and puppet-like?” “has she ever had night time screaming fits?”. Her neurologist then told us that he wanted to test Chelsea for Rett, Angelman, and Prader-Willi Syndromes. The genetic mutations for all these conditions had recently been found, and since, more and more atypical cases were being discovered. He wanted to run the tests just to rule these syndromes out.
Six weeks later, we learned that Chelsea has the genetic mutation causing Rett Syndrome. For us, the relief in finally having a concrete diagnosis was immense. At first, there wasn’t much change in how we viewed Chelsea’s prognosis. The information we had read about RS all those years ago wasn’t any more promising than mitochondrial disease. RS was also believed to be a progressive illness, causing early death after a life of complicated issues. I soon discovered, after going to the International Rett Syndrome Foundation’s website (then the International Rett Syndrome Association), that a complete revolution had taken place on Rett Syndrome.
Most parents are devastated when they learn their daughter has Rett Syndrome, but the experience was quite the opposite for her dad and I. RS was the silver lining in the storm cloud I had been praying for all along. This did not change how Chelsea was cared for, she still had the same symptoms and medical issues. But it meant no longer living in fear that each illness would cause massive setbacks and organ dysfunction. She had a future we needed to plan for.