No one starts out planning a family thinking they will have a child with special needs, but our son (who has Wiedemann-Steiner Syndrome) is so unique and brings so much joy to everyone with whom he comes into contact. We will always do our best to advocate and fight for him.

A STORY OF A RARE GENETIC MUTATION

AN EXCEPTIONAL BOY AND RESOURCES FOR FAMILIES

BY KELLY MEDELLIN, PH.D

INTRODUCTION

I would like to share my story about my two-year-old son, Levi, and our family's journey with his diagnosis of a rare genetic disorder, Wiedemann-Steiner Syndrome (WSS). At the time of his diagnosis, less than 1,000 people worldwide had been diagnosed with this extremely rare de-novo genetic mutation that can cause hypotonia (low muscle tone), cognitive delays, speech delays, feeding issues, seizures, chiari malformation, spinal issues, behavior issues and more.

Daily life is not always easy and can come with many challenges, but early intervention with Early Childhood Intervention (ECI), a statewide program within the Texas Health and Human Services Commission under the federal Individuals with Disabilities Education Act (IDEA), has made a huge difference in Levi's life. Through ECI, he receives speech and feeding therapy, occupational therapy, and specialized skills training (SST), and can now walk on his own and eat table foods. Although there is not much information about the disorder, we are extremely fortunate to have a worldwide parent support group that mainly connects