Each case of mitochondrial disease is different. At birth, Riley weighed 8 lbs 1 oz, and appeared to be healthy. In fact, the only apparent problem that she had was severe acid reflux. For months, we tried to control the reflux with various medications and nothing seemed to work. The reflux prohibited Riley from gaining weight, so she was very thin and somewhat fragile. Her gastrointestinal doctor was very concerned about Riley's future so, at nine months old, Riley had a Nissen Fundoplication, which stopped the reflux and allowed her to gain weight. During the same surgical procedure, she also had a G-tube placed in her stomach. Obviously, that’s a lot of invasive surgery for a baby. Thankfully, the tube was never utilized because Riley has always had a very hearty appetite.		  
 


We had high hopes that all her problems would soon be over. Disappointingly, we had no idea of the journey that was ahead. When Riley continued to miss milestones, we took her to see a neurologist. She had multiple MRI's, which ultimately revealed that a portion of her brain was underdeveloped. Riley also began seeing a geneticist, who ran endless tests for what seemed like every imaginable disorder. It appeared as if the doctors were working a plan of “process of elimination.” As each test came back negative, we would breathe a sign of relief. Yet, Riley was now 20 months old and continuing to miss important developmental milestones. We grew more concerned and frustrated with our lack of answers.

 

  

 

We soon learned that our best hope might be a molecular medicine doctor and thankfully, one of the leading doctors in this field is right here in Atlanta, where we live. This doctor quickly decided that Riley needed to be tested for a metabolic disorder called mitochondrial disease. This test includes a very invasive surgical procedure designed to biopsy the muscle. By now, we were desperate for answers and anxiously moved forward with the tests. Four months later, we finally had our diagnosis. As difficult as it was to accept the fact that Riley had Mitochondrial disease, our family finally had some answers and could move forward.


Today, everyone who crosses Riley's path is drawn to her easy, open smile, beautiful blue eyes and infectious giggle. She is quite the flirt and will sometimes push her mommy away if she is in the arms of new-found friend. She gets very excited whenever she sees animals, and sometimes, you can almost see her trying to talk about all that she sees. She now attends The Joseph Sams School where she is making great strides in her ability to communicate. It is a thrill for us to see her playing and interacting with other children!

 
 

We’re lucky. Riley is a very happy child learning to deal with her disabilities. She uses every morsel of her energy to explore the world around her and her determination has been a key to her progress. She loves music, books and her big brother Reese. Reese is “all boy” and, of course, rambunctious, but when he plays with his sister, he is amazingly gentle and protective.

Although Riley's short life has been filled with far more doctor's visits, tests, therapy sessions and hospital stays than most people endure in a lifetime, she never ceases to add joy to the lives of everyone around her.

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