Meet Emily Kate Steadman, born in Indianapolis, Indiana on May 22, 2003 to proud parents Bill and Beth Steadman. Emily’s arrival into the world was a difficult one and included a few days in the Neonatal ICU while she was being monitored for seizure activity. It was discovered at her six month neurology visit that she had what was commonly referred to as “Floppy Baby Syndrome”, also known as low muscle tone.
This condition, known as Hypotonia, affects almost all of Emily’s daily activities from her speech to fine and gross motor skills. Many things that healthy people take for granted are a struggle for Emily to accomplish without a significant increase in strength and a learned behavior to compensate for what most do naturally.
In order to help Emily to begin developing the strength and skills she will need in life, the doctors recommended an early intervention program. She was enrolled in First Steps of Indiana where Emily received ongoing services in physical, occupational and speech therapy.
Hypotonia, in and of itself, is not a disease or disorder but usually a presenting symptom of another issue. For this reason, Emily was referred to the Scottish Rite Hospital in Atlanta, GA in January 2006 where a muscle biopsy determined she had a Mitochondrial Disorder with a Complex I defect in her mitochondrial DNA respiratory chain process.
Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. Emily’s disorder, to this point, has primarily manifested itself in her muscle tone, vision and overall energy.
Emily is in kindergarten now and has global developmental delays but thrives amongst her friends and teachers. She has made great advances and still continues to receive therapy privately and through the Carmel Clay School District to help her on her unique journey. Despite the tremendous daily challenges Emily faces, her determination and spirit are truly inspiring to everyone who comes in contact with her. She doesn’t know a stranger and people are naturally drawn to her. Emily continues to amaze us on a daily basis and handles her adversity with courage, dignity and grace. Emily has taught us so much and we are so proud of all that she has accomplished in life and look forward to her continued growth and successes.
To honor Emily and her continuing battle, Emily’s parents established the Emily Steadman Research Fund. Through the United Mitochondrial Disease Foundation (UMDF), money donated to this fund goes to research in Emily’s name.
The UMDF was formed by families affected by mitochondrial disease. Like the Steadman family, the UMDF founders wanted to help others affected by the disorder. The Foundation provides support to families and funds research into mitochondrial disease.
Mitochondria produce more than 90 percent of the body’s energy. When these tiny parts of the cell can’t do their job, the body doesn’t get the energy it needs, resulting in a wide range of debilitating and sometimes fatal symptoms. Every thirty minutes, a child is born who will develop a mitochondrial disease by age 10. Most of these affected children will not survive beyond their teenage years.
Through research, the medical world one day will have the resources to help children like Emily win the battle against mitochondrial disease. Until then, please help the Steadman family and the UMDF bring “Hope.Energy.Life” to everyone affected by mitochondrial disease by donating to the Emily Steadman Research Fund.