My name is Jill and my son Brandon was diagnosed with Joubert Syndrome at the six months of age. Joubert Syndrome is a rare genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination. The disorder is characterized by absence or underdevelopment of the cerebellar vermis and a malformed brain stem (molar tooth sign). The most common features include ataxia (lack of muscle control), hyperpnea (abnormal breathing patterns), sleep apnea, abnormal eye and tongue movements, and hypotonia.
Other malformations such as extra fingers and toes, cleft lip or palate, tongue abnormalities, and seizures may also occur and children may have mild or moderate retardation. Joubert Syndrome is one of the many genetic syndromes associated with syndromic retinitis pigmentosa.
We all have been through many struggles on this journey together with Joubert Syndrome. Brandon is three years of age right now and can not walk or talk. Sometimes I must admit it does get frustrating trying to figure out his needs. Despite this, I would not change Brandon at all. He has changed my life in so many positive ways. He has shown me how to have patience and how to be grateful for what you have. I have accepted him for what he is. He is so generous and loving. I am grateful for his innocence that he does have. Everyone loves him that meets him.
This is going to be a long road that we are going to go down together but I could not ask for more. Some parents ask for their children to be normal. I would not change my son as he was a gift to me to learn from and cherish forever.
For more information, visit the Joubert Syndrome and Related Disorders Foundation.