about child in a few words

Introducing Sydney

Sydney is a sociable and kind-hearted 23-year-old, and aspiring cat owner, who loves reading books, watching movies, and exploring the outdoors. She is a caring sibling to her two sisters, who have the recessive AGU gene, two step sisters, and one step brother. Although is always ready to support her, Sydney is very independent. Hoping to eventually save enough to adopt a cat, Sydney works a part time job in retail. When she isn’t attending to her part-time job or maintaining her own apartment, Sydney volunteers with animals at the local Humane Society through a nonprofit called Ark of the Ozarks which helps people with disabilities to live more independently. Sydney enjoys staying in touch with friends from high school and engaging in group activities through Ark of the Ozarks.

Path to Diagnosis

Sydney was a very normal infant and toddler. In kindergarten, Sydney earned top scores on an exam measuring learning abilities, but seemed to have trouble speaking in class. Sydney promptly received a diagnosis for selective mutism, but it wasn’t until the fifth grade that homework difficulty and dropping grades prompted her family to take her to a pediatric neurologist. The neurologist diagnosed Sydney with Aspergers, a form of Autism Spectrum Disorder. The neurologist also took an MRI scan, which revealed abnormal white matter in Sydney’s frontal lobe. Sydney’s family consulted many professionals to review Sydney’s MRI results, but no one could pinpoint the cause of the mysterious white matter.

Diagnosis: AGU

Last year, Sydney received a genetic test revealing that she had AGU. For her Sydney and her family, receiving the diagnosis was a happy yet alarming experience. On one hand, Sydney and her family had finally identified her condition; on the other hand, the outlook for patients with AGU had been historically poor.

Given that so little is known about the rare condition, receiving a diagnosis of AGU can be a daunting experience. Sydney and her family connected with Julia Taravella, the founder of the Rare Trait Hope Fund, and met her sons Daniel and Alexander, who are both diagnosed with AGU. For Sydney and her family, the Rare Trait Hope Fund provided a significant amount of information and relief.

As the development of a gene therapy for AGU is well underway, Sydney feels at peace with her diagnosis, but is ready to go forward with the procedure.