2 Children, Same Rare Disorder

BETHLEHEM, Pa. — In 2020, Erin Cotter had what she described as “a normal pregnancy” with her daughter, Trinity. During the first year of her young life, Trinity hit some key milestones — but there also were concerns.

For example, Trinity could not support herself as a 1-year-old, making it difficult to stand up.

“Any time she did stand up, it just seemed like her ankles buckled,” Erin said.

‘Terrifying’ Birthday Episode

On the morning of Trinity’s first birthday in 2021, the birthday girl woke up grumpy and a little out of it. As the day progressed and the family prepared to snap pictures of Trinity with the traditional “smash cake,” Erin sensed something.

“She just wasn’t there,” Erin said. “She started running a fever. Even in the pictures, you could just tell she wasn’t there.”

As Trinity’s symptoms worsened that evening, the family ended up in the emergency room. There, Trinity’s eyes crossed and her limbs moved in all directions, as though she was seizing. That moment was “terrifying,” Erin said, as doctors searched for answers.

Eventually, the family returned home, still reeling from the scary moment.

2 Children, Same Rare Disorder

In the ensuing weeks and with the support of the Children’s Hospital of Philadelphia (CHOP), Erin, who was pregnant with son Wyatt at the time, learned her daughter has a rare genetic disorder (ATP1A3 gene monoallelic mutation) that presents like Parkinson’s disease and dystonia (uncontrollable muscle contractions).

It’s especially rare at Trinity’s age — and it turns out that Wyatt, who was born in 2021, has it, too.

“There are not a lot of kids under the age of 1 that have Parkinson’s — and two of my kids have it,” Erin said.

Intensive Inpatient Pediatric Rehabilitation

Following that first emergency room visit in 2021, young Trinity required inpatient pediatric rehabilitation to regain the ability to eat, drink, stand up and perform other daily functions for a toddler. The family traveled from the Poconos, choosing Good Shepherd Rehabilitation Hospital Pediatric Unit in Bethlehem specifically to get Trinity the care she needed.

With the guidance of Good Shepherd’s nurses, therapists and members of the interdisciplinary team — all overseen by Medical Director Kimberly Kuchinski, MD, MPH — the team developed a comprehensive plan for a complex kiddo.

“If it wasn’t for Good Shepherd and my family, I don’t know where we would be,” she said. “I don’t know how I would find the strength if it wasn’t for all the support I received.”

Erin would need that strength.

First Trinity, Then Wyatt

About a year later, Wyatt encountered a similar medical episode while the family vacationed in Lancaster for the weekend. Wyatt, too, ultimately made it to Good Shepherd’s Pediatric Unit for inpatient rehabilitation, just like his older sister.

Imagine having two children with the same rare genetic disorder – one that Erin carries, too — and they both find their way to Good Shepherd for similar treatment. Erin said she’s not sure she could have gotten through the tough times without the support from the Good Shepherd team.

“That entire facility and everyone in there are angels from above,” Erin said. “They’ve helped me through the highs and lows. They have helped me more than I could ever thank them.”

Trinity and Wyatt both recovered and went home to be kids.

Regression Leads to Admission

Flash forward to January 2024 and Wyatt fell ill again due to his disorder. By February, the family traveled again to Good Shepherd for another round of intensive pediatric rehabilitation so Wyatt could build his strength back up.

Wyatt stayed for a few months and, as soon as he returned home, Trinity fell ill, too – and ended up back at Good Shepherd.

Both children essentially lost the ability to eat, drink, talk, walk, stand or sit up.

“Each time they get sick, it seems like they lose a lot,” Erin said. “And they lose different things in different ways, and it comes back in different ways.”

Learn it back they did and, mom said, the children are flourishing back home near the Scranton area.

Trinity — now 5 years old and a big fan of unicorns — is starting kindergarten soon, while Wyatt — 4 years old and currently obsessed with Spiderman and Playdoh — is enrolled in early intervention services.

“My kids are strong, strong kids,” Erin said.

And their mom is pretty strong, too.