Kenneth and Vicki spent many years trying to become pregnant again after the death of their first child. After five years of attempting to become pregnant, the couple welcomed a little girl, Nicole. Their first child died suddenly around the age of one and the cause was never found.
Nicole after having lived a couple of months started to get sick. The couple worried that Nicole was falling down the same path as their first born. Nicole was failing to thrive, this meaning she was growing more slowly than she should or growing slower than other babies around the same age. Some common reasons for failure to thrive are genetic situations like down syndrome, problems with organs like the heart and lungs, hormonal imbalances within the infant, blood disorders like anemia, gastrointestinal problems like lack of digestive enzymes, low birth rate, metabolism problems, and long term infections. The doctors discover that Nicole's reason for failure to thrive was from a long lasting infection, viral respiratory infection. Nicole had problems sucking her thumb, turning her head, was not gaining weight like she should, had a loss of appetite and was vomiting, and was irritable all the time. These were all signs that were not commonly associated with a viral respiratory infection. Due to these symptoms Kenneth and Vicki went to the Emergency Room where Nicole then seized and had a decrease in muscle tone.
At the Er the doctors ran a metabolic test and MRI where the couple learned that Nicole's plasma lactate and pyruvate levels were elevated and that she has discrete bilaterally symmetric lesions in the basal ganglia and brainstem. Nicole's symptoms and test results suggested that she had multiple organs being affected. Nicole was diagnosed with Leigh Syndrome (LS), a neurological disorder, that causes a degeneration of the central nervous system and is usually triggered by viral illnesses. Those diagnosed with Leigh Syndrome (LS) usually die within the first one to three years of life from respiratory failure. One in 36, 000-40, 000 infants have LS. Leigh Syndrome is caused in most cases from a mutation in the Gene Surf 1 which leads to defects in the protein found in cellular organelles responsible for energy reproduction. The organelle most likely affected the most is the mitochondria. These organelles are found in all cells which causes problems with all organs of the body, especially the heart, brain, and GI tract.
Leigh Syndrome is a recessive disease meaning that both parents need to pass along the gene for the child to receive the gene. Nicole was able to contract the gene because both of her parents carry the gene for Leigh Syndrome. There is a twenty-five percent chance for two parents who are carriers of the gene to give their child Leigh Syndrome, like Nicole. Two carriers of LS have a fifty percent chance of having a child that is also a carrier of LS. This means that Vicki and Kenneth has a twenty-five percent chance to have another ch...
