4-Year-Old Walks On Her Own Despite Battle With Rare Genetic Condition

Whether or not she sees Natalie Livengood enter Cleveland Clinic’s Stow-Falls Medical Outpatient Center, Regina Thompson typically knows when the 4-year-old has arrived.

“Often, she squeals with laughter when she comes in, because she just wants to play,” says Regina, a Cleveland Clinic physical therapist who guides Natalie through twice-weekly physical therapy (PT) sessions. “She is always  happy, always smiling.”

And lately, Natalie and her parents, Lauren and Kyle, of Kent, Ohio, have had plenty to smile about. Born with Shwachman-Diamond syndrome (SDS) -- a rare genetic disorder that affects many parts of the body, particularly the bone marrow, pancreas and skeletal system – Natalie was hospitalized in another Ohio hospital for most of her first year of life.

With a variety of SDS-related skeletal issues, Natalie is small-statured, especially in her rib cage. That condition requires biannual surgeries to expand it as she grows, and an ever-present tracheal ventilator to help her breathe. As a result, Natalie had delays in motor skill development and overall muscle weakness and was unable to crawl, stand up or walk.

“When Natalie started PT, walking was not on her radar at all,” recalls Lauren, who has paused her teaching career to devote all of her time to her daughter. “That was always our dream, to see her walk independently.”

It’s a dream that finally came true in 2018. After extensive in-home physical and occupational therapy administered at Cleveland Clinic Children's, and then outpatient PT with Regina at Stow-Falls Medical Outpatient Center, Natalie took her first halting steps. Not that the process was easy.

“Before coming (to Stow-Falls), Natalie had not had a lot of exposure with other kids, or new places,” explains Lauren. “She was very fearful of this amazing equipment they had.”

At first, Natalie would scream and cry when introduced to gait trainers, treadmills, scooters or other training devices that were unfamiliar to her. “We just had to take it slow, at her pace,” notes Regina, “and respect her tolerance for new things.”

Slowly but surely, in one hour sessions, two to three times per week, Natalie began to blossom. First, she learned to get on her hands and knees. Next, she crawled and then pulled herself up to a standing position. When she finally learned to walk, her whole world changed.  

“As soon as a child takes that first step, they’re well on their way,” says Regina. “There’s no stopping them.”

Lauren can attest to that. “Ever since she started walking, she rarely wants to sit down and stay still. So, it’s a bit of a blessing and a curse, but she’s very cooperative when it’s time to see Regina. Natalie walks in waving her hands and clapping.”

Just a few months after taking her first step, Natalie joined her parents for the final stage of a local run-- walking independently, side-by-side with them, right across the finish line. Naturally, Natalie did so with a beaming smile across her face.

She also attends preschool part-time, accompanied by a nurse, since she remains on the tracheal ventilator. While Natalie is still developing her ability to speak, she has no trouble communicating with her classmates. 

“Natalie loves to interact with kids. It’s a unique situation but they’re amazing with her, always showing her things and including her,” Lauren says. “It’s really awesome to see.”

And step by step, one day at a time, Natalie continues to grow stronger and more confident. Now, she’s working with Regina to master stairs, jumping and kicking a ball. Helping patients like Natalie progress to accomplish those tasks is what makes her work as a PT so rewarding.

Regina emphasizes she’s not doing it alone: “Her parents deserve all the credit. They put in so much work and time and effort with her,” Regina exclaims. “They have made the difference in her life.”