Samantha came into my life at two days old through adoption. I knew right away there was something wrong. In her first weeks, she had infections and developed severe hypertonicity with constant muscle jerking. She had reflux that caused her to silently aspirate, causing respiratory infections. We were referred to the Neurology clinic and Dr. Saneto at this time for an EEG and an MRI. The tests showed nothing definitive. Sammy continued to have significant developmental delays, so it was back to Children’s for workups in the nephrology, metabolic and pulmonary clinics. All the results were still negative until Dr. Saneto repeated the MRI, which led to a muscle biopsy and the discovery of a mitochondrial cytopathy. At last we had a diagnosis but no cure. Sammy was started on the mito cocktail and has made a lot of progress. We have done genetic testing but still no discovery of a gene producing diagnosis.
Sammy is now 9 years old. She can walk and run but has motor problems, frequent falls and requires physical therapy. She was fitted with braces which help her balance, and needs a push chair because of endurance issues. She went skiing this year, started swim lessons and joined the dive team. She also got to try inner-tubing behind a boat. We were very excited to travel to Disneyworld last September through Make A Wish. She tries so hard to do what comes so easily to other kids. We always plan ahead with extra rest breaks and snacks to help her maintain energy. Sammy still has severe reflux and aspirates, requiring one-on-one supervision for eating. She started having myoclonus which really comes out when she is fatigued. She also started taking insulin this year because of Mito related diabetes.
Samantha is an outgoing girl who has accepted her illness and won’t let it get her down. She is full of joy and has a bright spirit. She teaches me every day. When she grows up, she wants to be a camp counselor at Camp Korey, one of her favorite places.
We are very excited to travel to the National Institute of Health in September, to be part of the EPI Study.