A major problem with rare genetic diseases is that the diagnosis is often delayed. Without a diagnosis, appropriate treatment cannot be instituted. In the case of Cali Spooner, who lives in Rancho Santa Margarita, a community to the south of LA, the diagnosis was not made until she was 14 years old. Exome sequencing revealed that she had a genetic mitochondrial disease known as Complex I deficiency. Like many genetic diseases that appear in the children of normal parents, Complex I deficiency is caused by receiving two defective recessive genes, one from each parent. The risk of genetic recessive diseases is 1 in 4, the risk of being a carrier is 2 in 4 and the chance of not carrying a defective gene is 1 in 4. Thus, one would predict that if the Spooners had 4 children, three would be normal. However, the Spooners have two other daughters. Cali’s youngest sister, 4-year-old Ryann also has the condition; the middle daughter does not. Both Cali and Ryann have extreme difficulty in controlling their muscles, which severely limits their ability to walk, talk, and care for themselves.
Mitochondria are small structures within the cells. They are sometimes termed “cellular power plants” because they generate most of the cell’s supply of adenosine triphosphate (ATP), used as a source of chemical energy. In addition to supplying cellular energy, mitochondria are involved in other tasks such as signaling, cellular differentiation, cell death, as well as the control of the cell cycle and cell growth. Now that a diagnosis has been made, the girls are receiving a daily “vitamin cocktail’ that improves mitochondrial function. The result is that their energy is boosted and muscular control is better.
“We spent 14 years trying to find a diagnosis to the rare genetic disease impacting the lives of two of our daughters,” explained Cristy Spooner. She added, “We never thought it would be possible, but because of a new testing we have a diagnosis. This diagnosis is so important because we are finally able to identify treatments that will help them and improve their quality of life. We have already seen remarkable changes in their ability to walk, balance and more. Our family decided to share our very personal story to give families around the world knowledge so that they can find their own answers as they battle against rare disease.”
“The Life We Live” production is the result of the collaboration between three world-class organizations united by the commonality of researching and fighting rare genetic and orphan diseases. With different backgrounds in medical technology, research and rare and genetic disease patient advocacy, these organizations all had the same goal: to help the Spooners find answers they have been waiting for. The relentless efforts of Ambry Genetics, a global leader in genetic services with a focus on clinical diagnostics and genomics, Dr. Virginia Kimonis of the UC Irvine Division of Genetics and Metabolism, and Nicole Boice, founder and president of Global Genes/RARE Project, finally helped unlock a diagnosis through the cutting-edge testing of exome sequencing.
The Spooner family is not alone. Currently, there are more than 7,000 identified rare diseases, which because of their “rarity,” results in tens of thousands of undiagnosed individuals annually. Exome sequencing can help the more than 350 million people worldwide affected by a rare disease. “The Life We Live” is a documentary that follows one family’s long-fought battle in finding answers to fight against a rare genetic disorder. To learn more about the Spooners’ struggle, exome sequencing or watch the documentary, click on this link.