San Marco Family Undaunted by Diagnosis
On a typical Wednesday morning, the San Marco home of Daryl and Tessa Gottlieb looks a lot like any other family home in Jacksonville. Quincy, 6, bounces between the living room couches and the kitchen. Aislyn, 18 months, has just awakened and is ready for her breakfast. And Aidyn, two and a half, is strapped into her highchair, observing the gentle commotion.
That’s where the similarities end.
Aidyn has an incredibly rare genetic disorder called FOXG1 syndrome, which has fewer than 1,000 diagnosed cases worldwide. This syndrome occurs when a mutation in the FOXG1 gene results in poor connections between the halves of a developing brain, which leads to a range of neurological symptoms and developmental delays. Aidyn lives with uncontrollable movements in her arms and legs, visual impairments, chronic reflux, seizures, and is unable to walk, speak or feed herself.
Despite these conditions, Aidyn has the same likes and dislikes as any other child her age. After a contentious hair-brushing session, she was rewarded with her headphones.
“She loves music,” Daryl Gottlieb said. “We’ve listened to Alan Jackson’s ‘Precious Memories’ album at least ten thousand times.”
Tessa Gottlieb spoke about Aidyn’s love for all things water. “We take walks by the river, visit the Riverside Arts Market,” she said.
The Gottliebs have an assistive flotation device for Aidyn with neck support, so she can float freely in a pool.
“She loves swimming!” brother Quincy said.
Like most children with FOXG1, the journey to Aidyn’s diagnosis began when she was just a few months old.
“We knew there was something going on, but we didn’t know what,” her father said. “We noticed vision impairment, not tracking [objects], not making eye contact. She was having regressions, neurologically. She would faceplant during tummy time, arms sprawled out, with no control.”
With the help of their pediatrician, Dr. Kim Dal Porto at Carithers Pediatric Group, the Gottliebs “ran the gauntlet,” as Daryl Gottlieb put it, culminating in genetic testing that provided Aidyn’s diagnosis.
There is no cure of FOXG1 syndrome, and managing the condition requires intensive therapies and medications. Aidyn attends a medical day care where she is attended by trained nurses at all times. She receives physical and other therapies alongside other children who are affected by complex medical conditions. Prior to her enrollment at the day care, the Gottliebs had a dedicated nanny to help them with Aidyn’s daily routine.
The Gottliebs have leaned on their community, especially during the early days after Aidyn’s diagnosis. Tessa has found a FOXG1 support group online, as well as receiving comfort and support from Aspire Church in San Marco, where they attend.
“They’re still doing a Meal Train for us,” Tessa Gottlieb said, gesturing to the week’s meal-delivery schedule. The church also trained a volunteer to be with Aidyn on Sunday mornings in the church’s nursery.
Aryn Lentz, a former neighbor of the Gottlieb family, has also stepped in to help by serving as committee chair for an upcoming fundraiser for FOXG1 research.
“We’re working with Believe in a Cure, who is already pioneering research and working towards a clinical trial,” Lentz said. “While [FOXG1] affects such a small group of people, there are links to Alzheimers and brain tumors,” meaning that the research could have far-reaching implications for other diseases.
The Aidyn Mae Hope Fund charity event will take place on Nov. 9 at The Garden Club in Riverside. For more information, or to purchase tickets, please visit webelieveinacure.org/aidyn-mae-hope-fund.
By Windy Taylor
Resident Community News
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