Her journey with Norton Children’s began the day she was born six weeks premature and transferred to the neonatal intensive care unit (NICU). Now an adult with congenital heart disease, Samantha continues her care today with Norton Children’s.

Story by: Julie Kruer on February 28, 2020

To look at Samantha Stallings today as an active, working adult, you would never know that she’s been fighting for her health all 27 of her years.

Her journey with Norton Children’s began the day she was born six weeks premature and transferred to the neonatal intensive care unit (NICU) at Norton Children’s Hospital.

Now an adult with congenital heart disease, Samantha continues her care today with Norton Children’s.

Rare is oftentimes difficult

Samantha’s health journey has included 15 surgeries. Her condition, Loeys-Dietz syndrome (LDS) is so rare that it was only described and named in 2005. She was diagnosed four years ago, at age 23, even though her symptoms began when she was born. The first symptom of her syndrome was a deformity to her left foot.

“Everyone was trying to figure out what else I had,” Samantha said. “Because there had to be some underlying cause as there is for everything in life.”

LDS is a genetic disorder that affects the connective tissue in the body. Harry C. Dietz III, M.D., and Bart Loeys, M.D., at the John Hopkins University School of Medicine in Baltimore, Maryland, first observed and described the condition. LDS affects the cardiovascular, musculoskeletal, skin and gastrointestinal systems. Diagnosis is especially difficult since each person with LDS can experience a different set of medical characteristics.

Specialized care for adults with congenital heart disease

Samantha is under the care of James W. Boone, M.D., a pediatric cardiologist with Pediatric Heart Care Partners, affiliated with Norton Children’s Heart Institute. Dr. Boone has treated Samantha since she was 8 years old for conditions that include mitral valve prolapse and an enlarged aortic root. Samantha also sees Dr. Dietz annually since her diagnosis. Drs. Boone and Dietz now work together to manage her care.

“She’s an inspiration to anybody when you think about what she’s had to deal with — all the uncertainties,” Dr. Boone said. “You don’t know what the prognosis is going to be, really. Everyone has pointed out the serious lifetime complications she could face, but she just puts her head down and keeps going. She’s determined to make a difference whether it’s in her personal life, career or her willingness and desire to give back.”

Samantha also has homocystinuria, which is an inherited disorder in which the body is unable to process certain building blocks of proteins properly.  She’s recently started seeing a metabolic dietician as she’s still learning about her health and advocating for herself on a daily basis.

“You learn something new every day,” Samantha said. “I’m an advocate for rare diseases. People say, you’re only 27, why are you such an advocate? It’s because I’ve seen myself at my worst, and I don’t want to go back.”

Advocating and giving back

One of the ways that Samantha and her family have advocated for others is by raising money in support of the new Jennifer Lawrence Cardiac Intensive Care Unit (CICU) at Norton Children’s Hospital. They raised $10,000 to name the laundry room in the unit in honor of Samantha. According to Samantha’s mother, Pam Stallings, they’ve spent enough time in hospitals to know how important amenities like laundry can be to patient families.

“We really thought that was the greatest thing,” Pam said.

Samantha and her family raised money through a fundraiser called Make a Splash 4 Hearts with support from the Louisville swimming community and their family business, Salsarita’s Fresh Mexican Grill.

Samantha has been a lifelong swimmer, and she and her care team credit swimming with helping her stay healthy.

“Swimming is one thing that has been a constant in my life and was the only sport I never had to quit,” Samantha said.

Another thing that Samantha credits with helping her throughout her journey is being part of the Brave Hearts support group at Norton Children’s.

“I don’t know what my summers would have been without Camp Brave Hearts,” she said. “It’s been a family that has been with me throughout everything.”

Pam credits the care team at Norton Children’s and Samantha’s doctors for being so caring and helping the family navigate to get Samantha all the help she has needed over the years and for helping her stay healthy today.

“She wasn’t given a lot of hope for the life she leads today,” Pam said. “We are thankful.”