Spunky and Sweet: Two Sisters, Two Rare Diagnoses, One Team at Arkansas Children's

By Becky McCauley

Care Because of You

With your support, both of Brittany and Lukas’ daughters have received expert lifesaving care at Arkansas Children’s.

Evvy, who is adopted, was born with spinal muscular atrophy (SMA) and Noonan syndrome. SMA is a rare, progressive genetic disease that causes certain muscles to weaken and waste away and used to be one of the most devastating genetic disorders of infancy. Even a decade ago, most babies born with SMA did not survive childhood. Noonan syndrome, also a genetic disorder, can affect the heart, growth and development.

Lainey, who is Brittany and Lukas' biological child, was born with cystic fibrosis (CF). CF is an inherited genetic disorder that causes the body to produce thick, sticky mucus that damages the lungs and other organs.

Spunky Evvy

Brittany and Lukas found out about Evvy's SMA at her newborn screening. She also had characteristics that weren't consistent with SMA, so additional genetic testing was run. The results indicated Noonan syndrome.

The first phone call from the geneticist was bleak.

"They said Evvy would have no quality of life," says Brittany. "She may never walk, talk, breathe on her own. There was no mention of available treatments. We were told to just love her and care for her through her days."

But when Evvy was 2 weeks old, Brittany and Lukas were given a ray of hope after they were referred to Arkansas Children’s.

“That first visit with Arkansas Children’s was when we learned about different treatment options and what she was eligible for,” recalls Brittany.

Due to high antibodies, baby Evvy couldn't yet have the one-time IV gene therapy infusion that stops the progression of SMA. She received spinal injections for the first several months of her life to protect her fragile muscles. Then finally, in October 2021 when Evvy was 8 months old, she received the gene therapy infusion that changed the trajectory of her life.

The gene therapy infusion Evvy received — one of the most significant innovations in pediatric medicine in recent history — is the first FDA-approved drug to treat children and adults, and Arkansas Children’s was the first medical center in the state to offer this lifesaving treatment.

A Marvel — With Your Help

Although Evvy was a bit behind her peers, the little girl who was never supposed to walk, talk or breathe on her own sat up for the first time when she was 10 months old! From that moment on, nothing has stood in her way.

"Evvy slowly started to put weight on her legs and crawl, and eventually walk and eventually run," says Brittany. "She's made it leaps and bounds farther than anyone thought she would. Looking at her now, other than she's a little smaller than her peers, you would never know she has any muscular disease at all."

Sweet Lainey

Brittany and Lukas learned during an ultrasound that their unborn daughter had CF. Lainey was born in Little Rock and immediately transferred to the neonatal intensive care unit (NICU) at ACH.

Lainey spent the first 21 days of her life in the NICU. Her doctors thought she might need surgery to remove an obstruction in her intestine, but thanks to the expert care she received, surgery was put off day after day to give the medicine a chance to do its job.

"Lainey didn't have to have surgery, which is pretty rare with what she had going on," says Brittany. "They could have had surgery on day one and that would have had us there for three months instead of three weeks. We just had to trust the team to give her the best treatment. And they did."

Advancements in Care

When Lainey turned 1, her doctor at ACH prescribed a drug that was approved by the FDA in 2022 for children her age. When she turned 2, Lainey began taking another drug that was FDA-approved in 2023. A child born with CF just a few decades ago would most likely not have reached their 25th birthday. With these advancements in CF care, many of the children receiving these medications, like Lainey, can now live a normal life span into their 70s and 80s!

Representing Arkansas Children's

Brittany and Lukas, along with their daughters, were asked to represent Arkansas Children's at Children's Hospital Association Family Advocacy Day in Washington D.C. in June. Due to a hospital admission for Lainey, she and her dad weren't able to go. But Brittany and Evvy made the exciting trip to meet with Arkansas' elected officials, sharing their story and advocating for stronger pediatric health care for all children.

"They seemed really happy to meet with us," recalls Brittany. "They kind of got down on her level. It was neat for them to hear our story and to help them put faces to little kids like Evvy when they're fighting for something or going to sign something. It's great that Arkansas Children's sends patients and families to be a part of this."

Living for Now...and the Future

Thanks to you, both girls still receive treatment at Arkansas Children’s.

Evvy is a marvel. She walks, dances, swims and plays sports - activities that would have been impossible for most children with SMA a few short years ago. She visits ACH periodically for checkups, and regular scans help ensure nothing has changed or developed. So far, things are looking good.

Little Lainey still needs occasional emergency or inpatient care at ACH and closer to home at Arkansas Children's Northwest. Last year, she began vest treatments as maintenance, wearing a vest twice a day for 30 minutes that vibrates to loosen and thin her mucus. She looks forward to her treatments and likes to make funny sounds while her vest is vibrating!

Grateful to You

Brittany and Lukas are grateful to you for the lifesaving care both their precious daughters have received. "My girls wouldn't be where they are without your support," says Brittany. "I'm so thankful to you for our Arkansas Children's team and the care and education and support we've received."

Imagine the difference you make for children at Arkansas Children's - like Evvy and Lainey - every day. Thank you for your generous support!