Angelina was born with a cleft lip and palate, a congenital heart defect and a rare genetic disorder called Joubert syndrome. Joubert syndrome only affects 1 in 80,000- 1 in 100,000 individuals. It is a recessive genetic disorder that affects balance, coordination and speech through improper development of the cerebellum and brain stem.
Angelina’s cleft lip and heart defect were detected on prenatal ultrasound and we were initially told she had Dandy Walker syndrome. According to her dad, Brett, once she was born, they did a head ultrasound and told us, “Nope, no Dandy Walker,” and left it at that. It wasn’t until she was 5 months old that her delays were undeniable prompting a brain MRI which got us a proper diagnosis of Joubert syndrome. But none of her doctors had any real information on the syndrome. The search began and her dad found the Joubert Syndrome and Related Disorders Foundation. It has been a life line of information and support, and their only link to other families with the same issues, as well as the lead researchers studying this syndrome.
Angelina was referred for Early Intervention at birth due to her cleft lip and palate and congenital heart defect. She was evaluated by therapists from Aspire and began physical, occupational, speech and developmental therapies around 3 months of age, which continued until she turned 3 years old. She then continued PT, OT and speech privately through Aspire. The Aspire team has become like family. Angelina wasn’t able to sit independently or eat solid foods until after 3 years old and is currently non verbal. In the past 2 1/2 years her progress has exceeded all of our expectations as she has begun bearing weight and walking with assistance, communicating with sign language, feeding herself all varieties of food, and most importantly interacting with the world around her and showing the hidden intelligence within.
Watch Her Story
At Aspire’s annual gala, which raises funds for Aspire Kids, Angelina and Brett attended and shared their story onstage for all 500 guests to hear. They had the ballroom in tears of joy as Brett chronicled his journey with Angelina. Brett expressed gratitude towards Aspire and our mission to create inclusive communities that welcome and support kids like Angelina, who have so much to offer. He spoke of Angelina’s abilities and what he hopes for her future and received a standing ovation when he concluded, “Different is not less.” Watch their story.