Julie Renner carries cards with her daughter Sophia’s picture on them.
On one side is a picture of Sophia, highlighting her blonde hair, bright eyes and adorable smile. She’s wearing a shirt that says, “Happy!”
On the back of the card is information about Angelman syndrome (AS), a rare neuro-genetic disorder that Sophia was diagnosed with when she was 11 months old.
Julie and her husband Jon have been handing out more cards lately — at local Rotary meetings, speaking with community leaders, at the cornhole tournament they helped host to raise money for research, and to state lawmakers, considering bills that could help rare-disease families.
Working closely with another local family impacted by AS, they’ve started The Granville Angels Foundation to raise funds and awareness in Licking County and beyond.
“We wanted to be very passionate about it,” Julie said. “(Sophia) doesn’t have a voice so we wanted to be her voice and advocate for the syndrome. There are a lot of people who now know what it is and we want there to be more.”
Julie remembers hearing about Angelman syndrome in college, but didn’t know how it affected babies.
So it didn’t cross her mind as Sophia first struggled to meet milestones.
But when their daughter was 6 months old, they met a family through their son’s soccer team, who had a child with AS. The Renners were shocked at the physical similarities between their little boy and Sophia.
As they began working toward a diagnosis, their pediatrician recommended they contact the Licking County Board of Developmental Disabilities’ Early Intervention program to access therapies.
Early Intervention is a statewide program that provides in-home services to children, from birth to age 3 with developmental delays and disabilities, at no cost to families.
Working with LCBDD Service Coordinator Kayli McClain and Occupational Therapist Karlie Fleak, they made a plan to help Sophia with her low muscle tone and challenges with eating.
Karlie also wrote a letter on their behalf which helped Sophia access a neurology evaluation at Nationwide Children’s Hospital and later genetic testing.
When they got the results, their suspicions were confirmed. Sophia had a chromosomal deletion, making her one of only 500,000 people in the world with AS.
‘Hope for more’
The Renners had an appointment with Karlie very shortly after they got the news about Sophia’s diagnosis
They were trying to process a long list of things that she would likely struggle with throughout her life — developmental delays, moderate to severe intellectual disabilities, little to no functional speech, difficulty walking, seizures and sleep problems.
But Karlie wasn’t worried about any of that. She looked at Sophia as an individual with unlimited possibilities.
“They weren’t going to count her out, they wanted to try things and see,” Julie said. “Everyone else puts limits on your kid. They were the only ones who provided us with the hope and reassurance that we can hope for more for Sophia.”
When they first began therapy appointments, traveling to Columbus was overwhelming for Sophia. Being able to meet with Karlie at their home helped her get more comfortable working with her growing team of therapists and specialists in a variety of settings, Julie said.
With their support, and a lot of hard work at home, Sophia got stronger. She went from sitting and crawling to walking with a posterior walker.
She loves sensory play, especially with water, and has started speech therapy. Her family is excited to help her learn to use an iPad to communicate.
“We are very hopeful that her future will be better than other generations,” Julie said. “I attribute that to Early Intervention. Because there is no cure, the treatment is therapy. So there’s no way she’d be making the progress she’s made without it.”
Advocating for AS research
Angelman syndrome occurs in approximately 1 in 15,000 births. As Sophia grows, the Renners are learning more about the rare disease community and the people that support them.
Using Family Support Services funds provided by LCBDD for fuel, they traveled to Chicago so Sophia could be seen by renowned Angelman experts.
“That gave us confidence that we are moving in the right direction,” Jon said.
There’s new information and research about AS happening all the time and their family is excited by the possibility of new treatments that could improve Sophia’s quality of life.
The Granville Angels Foundation that they started helps raise money for the Angelman Syndrome Foundation and the Foundation for Angelman Syndrome Therapeutics (FAST.) They have been blown away by the community support and are looking forward to organizing more fundraising opportunities.
Julie is also the AS representative for the Ohio RARE Coalition, which advocates for rare disease families.
Their advocacy has helped them connect with other families and celebrate their daughter’s accomplishments.
Sophia loves being around people and playing with her brothers, Matthew and Isaac. She gets excited when people visit their house and loves singing and books.
Her smile and laugh are contagious and she gets excited about life’s little moments, Julie said.
“She really makes you appreciate the small successes,” she said.
For more information or to support Sophia, go to granvilleangels.org.