My pregnancy was progressing normally until a routine 20-week ultrasound revealed three soft markers indicating a possible problem with the health of our baby. A level two ultrasound together with additional blood work indicated that all was well and we needn’t worry. This was only the beginning of the rollercoaster ride that consumed much of the first year of Betty’s life.
Betty was born during a January blizzard, but without complication. At her two month well-check, a list of concerns turned into multiple tests and referrals to specialists and early intervention.
Multiple blood tests, a CT scan, an MRI, and chest x-ray all checked out and no one could find a clinical answer for Betty’s delays. She started an early intervention program and worked on gross motor and cognitive skills.
Our search for a diagnosis began out of desperation to know what was going on with our daughter, but as time went on we hoped that it might provide a guide for what to expect down the road. Finally Betty’s insurance company authorized genetic testing and at eight months she was diagnosed with Potocki-Shaffer Syndrome. Betty’s ophthalmologist also diagnosed her with cortical visual impairment. Neither diagnosis provided much clarity, and we discovered that the words that now accompanied her through mortality were, in fact, just words.Listen to this episode to find out the surprising development that happened around the same time as Betty’s diagnosis.
More of the details of Betty’s story and diagnosis can be found on the Potocki-Shaffer Syndrome website.