Galactosemia Family Story: Megan and Ava

Описание: Galactosemia Family Story: Megan and Ava Lilja

Megan Lilia described her daughter Ava’s journey through her pediatric development. Now 7 years old, “Ava is a ‘girly girl,’ who likes things all glitter and sparkles,” said Megan.
“School is a struggle for Ava,” she said. Ava receives special education services, occupational therapy, speech therapy, and daily assistance at school.

Megan, based on her occupational therapist training, hoped to avoid the many neurological, cognitive, and developmental impairments associated with type 1 galactosemia as Ava’s birthdays passed. However, these problems became apparent and seemed to accumulate over time. “Sometimes, it feels like it just doesn’t stop,” said Megan. “Unfortunately, I don’t think we’ve reached the end of that yet.” She is very concerned about Ava’s future: her cognition, her vulnerability, gaining basic life skills (e.g., to gain and hold a job, being able to pay her own bills, simple organizational skills), the effect of galactosemia on fertility. “I believe we need to advocate for this disease—it is more than just a dietary restriction,” concluded Megan. “Galactosemia has affected just about every part of our lives and our daughter’s life.”