About Kate

Kate's Diagnosis

Our daughter Kate developed typically in her infancy and began speaking two word phrases around 8 months of age. She smiled early and giggled while exploring her environment. She loved going to the park, playing on the swings, and hitting drums at music class. She was able to feed herself and play with toys, and it was a great surprise when she opened her own presents on her first Christmas morning.

At 10 months of age, everything changed. Kate stopped babbling and using her words. She did not seem interested in learning to crawl, and her sleeping patterns became irregular. Then, the terrible cascade began. Kate started to drop her favorite toys and suddenly she could no longer hold her milk bottle. She would stay awake for 20 hours of the day. Kate soon lost the ability to finger-feed, and she stopped responding to her name. We later learned that we had experienced the Rapid Destructive Phase, a horrific period when girls with Rett Syndrome lose their skills.

We began a search for answers that lasted another year. We visited doctors in several states, scoured the internet and academic libraries, and networked with parents and therapists. Kate had EEGs, an MRI, vision and hearing evaluations, multiple developmental evaluations, and blood and urine testing including several genetic tests. When Kate began the characteristic hand-wringing of Rett syndrome, we arranged to have MECP2 sequencing and the diagnosis was confirmed.

Kate's Progress

Read about Kate's progress by clicking here.