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Aug 22, 2016
Welcome to our site created to keep friends updated about our beautiful daughter. Get started by reading the introduction to our website, "My Story".Visit often to read the latest journal entries, visit the photo gallery, and write us a note in our guestbook. Please know your support is greatly appreciated. We thank you for your prayers, kind words, and valuable time. Feel free to share this site with anyone you feel would be interested.
Sarah was born a normal bright-eyed blonde baby girl. She began to lose her speech and motor skills she was developing at about a year in age. Feeding issues, dehydration, a visual impairment, irregular breathing, and seizures began as she became close to school age. She has received the clinical diagnosis of Rett Syndrome and the metabolic diagnosis of Cerebral Folate Deficiency. Genetic testing has revealed LHON which is a mitochondrial disorder that can cause blindness. It has been suggested a mitochondrial issue may be the source of her Rett Syndrome clinical diagnosis. Sarah also was diagnosed with asthma and Renal Tubular Acidosis in addition to hip dysplasia (surgery repaired), scoliosis, and an immune dysfunction (CVID) treated currently with subcutaneous gamma globulin infusions in the home every other week. Sarah appears to her teachers to be a gifted student.
Sarah has struggled with organ failure. After a failed ileostomy, her body works hard just utilizing an appendicostomy to function. After 9 months of severe feed intolerence, Sarah has switched to a blended diet rather than prepared formula. This switch has greatly improved her ability to tolerate her feeds.
Although Sarah struggles daily with severe seizures (Lenox Gestaut), she does not give up. Several of her motor skills she had worked so hard to attain have been lost. It is a hard pill to swallow, but Sarah has taught me only she can set what she can obtain. We are very proud of Sarah for she is so brave, kind, and such a hard worker! I am so glad she is my daughter.