Team members at Aspire Kids are spotlighting Joubert syndrome.
Many of the children Aspire Kids serves have rare diagnoses that impact the child’s development as well as his or her family. Each quarter Aspire Kids spreads awareness about one of these diagnoses and the organization(s) that support impacted children and families. Aspire team members will be donating to the organization and will provide an opportunity for you to donate as well. This quarter we are highlighting Angelina through the eyes of her Dad.
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. 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.
To learn more or make a donation, please visit www.jsrdf.org.