Oakley is the daughter of Jeremy and Alysa Giraud. She was born on June 5, 3013. Her parents noticed some abnormal eye movement and lack of tracking when she was just a couple of weeks old. After a series of tests Oakley was Diagnosed with LCA. Leber congenital amaurosis (LCA) is an inherited retinal degenerative disease characterized by severe loss of vision at birth. A variety of other eye-related abnormalities including roving eye movements, deep-set eyes, and sensitivity to bright light also occur with this disease. Some patients with LCA also experience central nervous system abnormalities. Individuals with LCA have very reduced vision at birth. Within an infant’s first few months of life, parents usually notice a lack of visual responsiveness and unusual roving eye movements, known as nystagmus. Eye examinations of infants with LCA reveal normal appearing retinas. However, electroretinography (ERG) tests, which measure visual function, detect little if any activity in the retina. A low level of retinal activity, measured by ERG, indicates very little visual function. ERG tests are key to establishing a diagnosis of LCA. By early adolescence, various changes in the retinas of patients with LCA become readily apparent. Blood vessels often become narrow and constricted. A variety of pigmentary (color) changes can also occur in the retinal pigment epithelium (RPE), the supportive tissue underlying the retina. Sometimes, pigmentary changes are similar to another retinal degenerative disease known as retinitis pigmentosa. Visual acuity in patients with LCA is usually limited to the level of counting fingers or detecting hand motions or bright lights. Some patients are also extremely sensitive to light (photophobia). Patients with remaining vision are often extremely farsighted. Many children with LCA habitually press on their eyes with their fists or fingers. This habitual pressing on the eyes is known clinically as oculo-digital reflex. The eyes of individuals with LCA also usually appear sunken or deep set. Keratoconus (cone shape to the front of the eye) and cataracts (clouding of the lens, the clear, glass-like structure through which light passes) have also been reported with this disease. There are curently no treatments or cures for LCA and little to no funding for research of the disease. The Giruad's are starting a 501-c3 Non Profit organization called the Oakley Giraud Foundation. Which will help fund gene replacement therapy and any other studies that come available for LCA. With the help of everyones donations one day we can bring the ablity to see what you and I see everyday to our baby and others like her. Thank you for reading our story and joining in our fight to find a cure! Love the Giraud's and their little girl.
**UPDATE**
Recently we received Oakley's Genetic test results from Boston. They confirmed they found a genetic mutation in the CNGB3 gene. This mutation is the most common in Achromatopsia also known as Cone Dystropy or Cone Dysfunction syndrome. Achroma is more common than her "clinical" diagnosis of LCA. It affects 1-33,000. There are 5 genes that cause this (that I'm aware of) Hers being the most common is a huge plus! They are estimating next year to start clinical trials for gene therapy on humans. Oakley still received this genetic mutation by getting one part from each parent. It's recessive inherited. Achroma causes Day Blindness, Low Vision with some central vision gone, and Color Blindness. Our goal is still the same to raise funds and awareness to find a cure! We appreciate the amazing support over our first year and are excited for 2015 and all it will bring for the foundation and making strides to cure All forms of Childhood Blindness! Thank You! The Giraud's!!
