My daughter, Harper, was welcomed into our Lexington area home in the spring of 2013. After a normal pregnancy and birth my husband, Landon, and I were thrilled to bring home a sister to her big brother, Davis. However, at two months of age, we noticed Harper had rapid, involuntary eye movements–Nystagmus which is similar to the ticking pattern of the second hand on a clock–and she could not begin to focus her eyes. After a visit to the Kentucky Children’s Hospital at the University of Kentucky in Lexington, an MRI revealed that Harper’s cerebellum was not developed properly and she was diagnosed with a rare genetic disorder called Joubert Syndrome (JS). JS is a relatively new genetic disorder with an incidence rate of approximately 1 case out of every 80,000 births.

There is a huge spectrum associated with Joubert Syndrome, some children presenting mild symptoms and others much more severe. Nearly all children will have global developmental delays and low muscle tone. The more specific features vary from child to child but include abnormal eye movement and organ diseases specific to the kidneys, liver, and retinas.

Lucky for us, Harper was referred to Visually Impaired Preschool Services by her ophthalmologist and began working with a teacher of the visually impaired at six months of age. I felt great comfort the first time I met Harper’s VIPS teacher and she assured me that Harper did have some vision. She could tell this just by Harper’s breathing patterns. Harper and her VIPS teacher first began working on tracking objects, which help determine the best visual fields for Harper. Their work progressed to toy activation, picture identification, and then alternative means of communication since Harper is nonverbal.