Joubert syndrome (JS) is an autosomal recessive genetic disorder that affects the area of the brain that controls balance and coordination known as the cerebellum. This condition is characterized by a specific finding on an MRI called a “molar tooth sign” in which the cerebellar vermis of the brain is absent or underdeveloped and the brain stem is abnormal. The birth prevalence of JS is estimated to be between 1/80,000 and 1/100,000 live births, but JS may be under diagnosed and the true prevalence may be higher.
More than thirty genes have been identified that cause Joubert syndrome. The proteins produced from these genes are known or suspected to play roles in cell structures called primary cilia. Mutations in the genes associated with Joubert syndrome lead to problems with the structure and function of primary cilia. The most common features of Joubert syndrome are lack of muscle control (ataxia), abnormal breathing patterns (hyperpnea), sleep apnea, abnormal eye and tongue movements and low muscle tone.
The treatment for Joubert syndrome is symptomatic and supportive. Developmental delays are usually treated with physical therapy, occupational therapy, speech therapy and infant stimulation. However at this time there is no known cure for this disease and the average life expectancy is about 7.5 years of age.
Jane’s oldest son, Brayden, is currently battling Joubert Syndrome. He is currently 7 years old and still fighting. As much as he struggles with JS, he is blessed. Many other children with his condition have had a much tougher medical journey and some have lost the battle.
When Brayden was born he appeared to be in perfect health. It wasn’t until he began presenting some delays in motor development skills around the age of one that Jane and her husband began to question if there was something he was struggling with.
The doctors in Southwest Colorado weren’t quite sure what to make of Brayden’s unique symptoms. They were sent to specialists at Children’s Hospital of Colorado for further evaluation and testing. At 18 months old Brayden received his first official diagnosis of Ocular Motor Apraxia and Ataxia. It was then that a neuro genetics team began to look further into wide varieties of rare genetic tests to attempt to uncover a potential underlying condition. After years of testing it wouldn’t be until 3.5 years old Brayden was diagnosed with Joubert Syndrome.
Brayden’s specific mutation is CC2D2A, and his exact genetic spelling made him 1 of 23 known specific makeups for JS. Braydens mutation is known for affecting the liver, kidneys, as well as retinal deterioration and cognitive delays. At any point, for any reason, his organs could begin to fail.
Brayden struggles to regulate his autonomic system (body temperature, blood pressure), has hypotonia (low muscle tone) which leads to extreme muscle fatigue and low energy, and mild dysphagia ( a swallowing disorder). He is able to attend public school with the help of a huge support team of therapists and special education teachers. Brayden is also followed by a huge team of specialists in Denver, CO as needed about 2 to 3 times a year.
Note from Jane:
“The gift Joubert brings is the constant reminder to be present in each and every moment to the best of your ability, and to see the beauty in it all. Our Brayden? He is our hero, our baby boy, and our purpose. Thank you for caring enough about him to read what he contends with. So so much he carries on his little shoulders, and the more people understand him, the lighter he feels.“
There are many ways to help the Joubert Syndrome Family. Here at Jane Morse Art a portion of every sale goes to the Joubert Syndrome & Related Disorders Foundation. Purchase one of the beautiful original paintings or prints and you will automatically help the JS community. If you wish to donate more there is an add to your donation during check out.
You can also learn more about JS and donate directly to Joubert Syndrome & Related Disorders Foundation at their website: https://jsrdf.org/. Thank you for helping to fight this rare disease and give back to families affected by Joubert Syndrome.
© 2023 Jane Morse Art All Rights Reserved