Avonlea's Story: Life the Rare Way

“We got a phone call at 5 weeks from the geneticist in Peoria that said they had news, and we needed to come right away,” Jess says. She and her husband immediately went to the hospital to receive their newborn daughter Avonlea’s diagnosis: Cardiofaciocutaneous syndrome (CFC).

CFC is a genetic condition aptly named for the distinctive changes it can cause to the heart (cardio), face (facio), skin, hair and nails (cutaneous). It is caused by variants in several genes within the RAS signaling pathway - a critical system that regulates cell communication, growth, and differentiation. When this pathway is disrupted, it can lead to challenges involving growth, development, heart function, and seizures. CFC is considered a ‘very rare’ condition. At the time of Avonlea’s diagnosis, only 200 individuals worldwide were diagnosed. More recent estimates suggest that the number of people living with CFC may be closer to 1,000.

“I remember when they handed us the paperwork,” Jess says. “Just reading the list of all the things that she would never do, all the things that would impact her body, all the things that seemed broken. I can remember it feeling like the room was getting darker and darker.”

Jess struggled to reconcile the dreams she had for Avonlea with the potential lifelong challenges she now heard her daughter could face. It was in that moment that she remembered an inspiring book she recently read about a woman with quadriplegia who hosts camps for children with disabilities.

“As I was holding Avonlea, there felt like this little glimmer of hope,” Jess says. “This moment was like: ‘…but there could be new dreams’. And it felt like the one little light in the room.”

Finding Lurie Children’s 

Avonlea started having seizures at only 4 months old. Stressed with trying to navigate long ICU stays while managing Zoom school for Avonlea’s two brothers during the COVID-19 pandemic, Jess and her husband quickly realized they needed more support.

“That summer is when we realized we needed more care than our local hospitals could give us,” Jess says. “We live two and a half hours south of Lurie, but we had heard if you have a complex kid: that’s where you want to go.”

The family first met Carlos Prada, MD, Division Head of Edwards Family Division of Genetics and Rare Diseases while he was leading a CFC clinic in Cincinnati. After finding out he would be joining the team at Ann & Robert H. Lurie Children’s Hospital of Chicago in 2021, they were ecstatic. His experience with RASopathies such as CFC syndrome brought Jess a deep sense of comfort and reassurance, who finally felt like there was someone with the expertise to support her daughter on this journey.

Dr. Prada’s team members Carolyn Raski, MS, CGC, Genetic Counselor and Juan Ramos, DO, Attending Physician became a pillar in Avonlea’s care in the years that followed. 

“From the beginning, Lurie felt like the right fit. No one is shocked by us here. No one is scared of us here. This is a place we belong,” Jess says. 

Milestones

By age 5, Avonlea was experiencing daily seizures and required to be taken to the hospital by ambulance multiple times for emergency care. When Jess heard of a new investigational medication, Mekinist (Trametinib), that could potentially help with seizure control, she immediately reached out to her daughter’s care team to explore the possibility. 

“They fought so hard along with me. It took four months to get insurance to approve it. Dr. Ramos and Carolyn never gave up, they never acted like it was too much work,” Jess says. “They had to write letters, they had to make phone calls. I got to see a side of them where they were advocating for Avonlea in a way that felt like I didn’t have to carry the whole load. And they never made me feel like I was asking too much. They wanted it just as much as I did.”

After starting the medication, Avonlea went 24 days seizure-free – her longest interval yet.

“Her development has skyrocketed,” Jess says. “She’s only been on the medicine for about two and a half months, and she is taking steps in her walker, she’s playing with toys with both hands, she’s sitting for over 10 minutes. She’s doing things that we just have never seen her do before and it’s totally because this medication is working.”

When Jess first found out that Avonlea would likely be nonverbal, she feared the challenges she might face in getting to know her daughter closely. Now, she feels that 6-year-old Avonlea has taught her to communicate in new, more thoughtful ways.

“I think with her she forces this level of presence that makes us have to sit, watch her, think and listen to her. Now, she taps on her arm when she wants to communicate ‘Yes’,” Jess says. “We live in such a fast-paced world that it’s easy to just not know people, but when you slow down, you really get to learn them. That’s kind of a gift of having a nonverbal kid.”

Rare Moments

Though her daughter is 1 of only 1000 estimated individuals in the world to have CFC, Jess has found no shortage of community. Using a Facebook group, she was able to connect and create lasting relationships with other CFC families across the globe. With the help of those connections, friends that have cheered Avonlea on since day one and her supportive husband, Jess has been able to act on one of those new dreams that she imagined for Avonlea after her diagnosis: travel.

After taking the necessary medical steps to ensure she could travel safely, Jess took Avonlea on her first plane ride to visit another child with CFC Syndrome in North Carolina. Having done so well there, Jess made another new dream for her daughter come true: hiking in a national park. 

Accompanied by her nurse, the family flew out to Utah over Thanksgiving break to take Avonlea on the hike of a lifetime. 

“My husband strapped her on with his hiker and we hiked three miles up to Delicate Arch. It was incredible,” Jess says. “That was a moment where I thought, ‘Wow. This was one of those dreams I grieved would never happen’. It looks so different, but this is actually a better dream. It’s a better dream because it required faith, community and interdependence.”

What initially overwhelmed Jess at the time of Avonlea’s diagnosis turned out to be an amazing opportunity for her to see every moment as a rare one, made more meaningful than she could’ve ever imagined by the hope and perspective that Avonlea’s life inspires. 

“Her life and the life of someone with a disability is actually such a gift to our world. It felt like it was going to be the death of so many dreams, but it actually has opened up so many more doors of community, of interdependence with other people, of slowing down, of seeing beauty. There’s actually this gift of a rare syndrome that I would never have thought of,” Jess says. “… There are new dreams to be dreamed.”

Avonlea started kindergarten this year and lights up when she plays with her classmates. She loves spending time with her older brothers, Rhodes and Forrester, and cheering on the Cubs with her family at Wrigley Field. When she’s not lighting up a room with her warm smile, Avonlea is always going on adventures with her family, creating close bonds with her nurses and caregivers, and making every moment special in her own rare way.

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