Life is a Journey: Family Discovery of Leigh’s Syndrome in Youngest Son Leads to Siblings’ Diagnoses

Life is a journey, not a destination
–Ralph Waldo Emerson

We are the parents of four wonderful children.

All seemed to be going well in our home until Fall of 2008 when our youngest child, Seth, developed some unusual neurological symptoms. A new journey began and has taken us all over this country and world, both physically and electronically. Our destinations became hospitals and doctor’s appointments, not soccer games or soccer camps. Seth continued to deteriorate, and no one knew what was wrong until we met Dr. Narayanan who committed he would do all he could to help us.

Seth was eventually referred to Dr. Shoffner who confirmed that Seth had Leigh’s Syndrome, a form of Mitochondrial Disease.

“Leigh’s disease is a rare inherited neurometabolic disorder that affects the central nervous system. This progressive disorder begins in infants between the ages of three months and two years. Rarely, it occurs in teenagers and adults. Leigh’s disease can be caused by mutations in mitochondrial DNA or by deficiencies of an enzyme called pyruvate dehydrogenase. Symptoms of Leigh’s disease usually progress rapidly. The earliest signs may be poor sucking ability,and the loss of head control and motor skills.These symptoms may be accompanied by loss of appetite, vomiting, irritability, continuous crying, and seizures. As the disorder progresses, symptoms may also include generalized weakness, lack of muscle tone, and episodes of lactic acidosis, which can lead to impairment of respiratory and kidney function.”

-NIH.

We thought the journey would only be with Seth, but as the journey continued, our oldest daughter was also diagnosed. Then, in the spring of 2012, we were broadsided with our oldest son, Spencer, who also was diagnosed with Mitochondrial disease. This disease is terrible and discriminates against no one. Mitochondrial disease has no cure and no effective treatments. We are determined to change this!