The Doctors: What Is Joubert Syndrome?
Nick and Anna always dreamed about being parents, so they were thrilled when they welcomed their first son Parker. But during a routine appointment, Nick and Anna got news that would change their lives forever. Nick and Anna have been married for eight years and are the parents of Parker, who is five, Lane who is three, and Elise is one. Parker began falling behind on his milestones so Nick and Anna took Parker to see a pediatric neurologist at Seattle Children’s Hospital. That day, they were told their son had a brain abnormality.
They then had to get a brain MRI for Parker and got a call from the neurologist, who explained that Parker had Joubert Syndrome. Joubert Syndrome is a rare genetic disorder that affects the area of the brain that controls muscle tone, eye movements, coordination, intellect, and breathing. Parker began occupational, physical, and speech therapy and Nick and Anna were determined to give him a chance to live as normal of a life as possible.
Nick and Anna soon found out that they were expecting a second child. As she spent time with Lane, Anna began to grow concerned and just a short time later, their second child was diagnosed with Joubert Syndrome as well.
The Doctors: Raising Awareness About Pediatric Brain Abnormality
Anna and Nick joined the show, explaining that her adorable, glowing children is what truly gets them through the hard times. The children also participate in horse therapy on top of the rest of the therapy that they do. Dr Jennifer Ashton pointed out that equine therapy can really help with issues associated with muscle weakness, even for children as little as Lane and Parker.
The Doctors surprised Nick and Anne by sharing that Free Rein Therapeutic Riding was going to cover the cost of the next two sessions for spring and summer for both boys. Also, because of the boys’ muscle tone, they have to use orthotics to walk. Hanger Clinic’s VP Deanna Fish joined the show in the audience to share that they were going to provide both boys with leg braces and shoes they need, until they’re 18-years-old.
Nick explained that every other year there is a conference for Joubert Syndrome families, and this past summer Nick and Anna got to go, saying it was a life-changing event. Families there were celebrating everything their kids were doing, which is why Nick and Anna partnered with them to help more families so that they can celebrate as well. Clemente Gonzalez, Director of Community Relations at AETNA, presented a $10,000 donation to Nick and Anna’s foundation.
Parker and Lane then joined the show, waving to everyone in the audience and showing their glowing, smiling faces.