Sarah, Halloween
Sarah, Halloween
Alix and Lilly, Halloween
Alix and Lilly, Halloween

Sarah's Story

Sarah was born on Sunday, May 20, 2001. Between the age of birth and 11 months, Sarah reached the same development milestones as her 3-year-old sister, Alix. Sarah was rolling over and sitting at 6 months, babbling, and had coordinated hand and eye movements.

Around 11-12 months of age, Sarah was content just sitting and began to experience brief shudders. After visiting the Pediatric Neurologist, the ongoing central issue driving her diagnostic evaluation was low muscle tone. Sarah began physical therapy.

Soon after, Sarah was startled awake and suffered a seizure-like episode. Though an EEG reported to have shown multifocal slight discharges, no seizures were reported and her background activity was good. An MRI was performed and was normal with no abnormalities. A number of metabolic tests were performed and were normal. All of her physical measurements — head circumference, height, weight, heartbeat, extremities, reflexes, and breathing — were normal throughout the examinations.

On September 21, 2002, Sarah visited Donald Olson, MD, Department of Neurology, Lucile Salter Packard Children's Hospital, Stanford University. Dr. Olson remarked after examining Sarah that since the beginning of physical and occupational therapy, Sarah has made gross motor progress. She was rolling over, sitting, and starting to crawl. Her vocalizations had improved. She was reaching for objects and grabbing them. Her social skills had remained fairly good. She did not seem withdrawn or in her own world; she interacted with those around her.

Dr. Olson believed that there were a number of specific causes that might be investigated further now that the first tests were apparently normal. Among the tests he suggested was Rett Syndrome, which he remarked was a reasonable "next generation" test.

On November 2, 2002, the geneticist examined Sarah and blood was drawn for the genetic tests.

On Thursday, December 5, 2002, Sarah tested positive for Rett Syndrome.

Sarah with her dad - Halloween
Sarah with her dad - Halloween
Sarah and her sisters - Halloween
Sarah and her sisters - Halloween