Sawyer's Story

Sawyer was born on 6/29/07 and diagnosed on 8/22/07 with Type I Spinal Muscular Atrophy (SMA). Type I SMA is also called Werdnig-Hoffmann Disease. SMA is the #1 genetic killer of children under age 2.

SMA is an autosomal recessive genetic disease. An individual with SMA has a missing or mutated gene (SMN1, or survival motor neuron 1) that produces a protein in the body called Survival Motor Neuron (SMN) protein. This protein deficiency has its most severe affect on motor neurons. Motor neurons are nerve cells in the spinal cord which send out nerve fibers to muscles throughout the body. Since SMN protein is critical to the survival and health of motor neurons, without this protein, nerve cells atrophy, shrink and eventually die, resulting in muscle weakness.

As a child with SMA grows, their bodies are doubly stressed, first by the decrease in motor neurons and then by the increased demands on the nerve and muscle cells as their bodies grow larger. The resulting muscle atrophy causes weakness that leads to loss of function; such as head control, leg and arm movement, swallowing, feeding, as well as additional compromise of the respiratory (breathing) system.

At the time of Sawyer's diagnosis we were told there was no treatment available and he would die before his 1st birthday. We refused to accept that in this day and age there was nothing to be done and Charles immediately searched for the latest techniques and research on this disease. Sadly, this is the reality for children facing this disease.

His efforts brought us to The University of Utah's Medical School and Dr. Kathryn Swoboda, a geneticist and researcher at Primary Children's Medical Center. After flying there to meet with Dr Swoboda, Sawyer was placed on medications (Valproic Acid & carnitine). The medications were not a cure, but were being given in the hope of improving the quality and length of his life. Sawyer was visited weekly by a nurse, physical therapist, and an occupational therapist. Sawyer required around the clock care. Our goal was to enjoy Sawyer's sweet smiles and laughs as much as we could every day. We wanted him to live comfortably and to feel well loved.

Despite his circumstances, Sawyer was a happy baby. He smiled constantly and loved attention! He was a true joy to be with! Sawyer went to heaven when he was 3 months old. He was in our arms, surrounded by love and passed peacefully into heaven. To learn more about Spinal Muscular Atrophy & the efforts to find a cure please visit the Families of SMA website.

There IS HOPE! Scientists feel they are very close to finding a cure!