Caroline was born a healthy baby girl in October 2004 and developed normally until she was 3 or 4 years old, when she fell below the 5th percentile in height and weight. Our pediatrician referred us to an endocrinologist who Initially diagnosed her with a growth hormone deficiency. Tragically, that doctor suddenly passed away shortly before we were to being treatment, and we began our search for answers all over. By this time, she was showing some regression in her motor skills and intermittent speech issues. Our pediatrician referred us to a neurologist, who suspected a mitochondrial disease and recommended genetic testing. The test results, which were complete in late 2014 when Caroline was 10, indicated a mutation in the SURF1 gene/Leigh Syndrome.
Fortunately, the disease progression has not been as quick and aggressive in Caroline as it is typically. We were told by the geneticist that she is an “atypical case”. For that we are so grateful. The areas in which she is most negatively affected is growth (height and weight), lack of muscle development and tone, and strength and coordination/motor skills. She can walk but only in short distances and tires very easily. Despite the effects of the disease, Caroline maintains a positive attitude and rarely complains.
Leigh Syndrome may have stolen some of her physical abilities but her not her quick wit. Now a teenager, she loves to show us her sassy side. We have lived our life with Caroline one day at a time, continually praying for a treatment or cure. We are thrilled to know there is now hope for a cure. We invite you to join us in our mission to make the Gene Therapy Research Project happen!