At 9 months old, Charlie was diagnosed with eosinophilic esophagitis (EoE), a chronic allergic inflammatory disease of the esophagus, the muscular tube that carries food from the throat to the stomach. Shortly after Charlie’s EoE diagnosis, his family sought specialized care, making frequent trips out of state. He now receives all his care at Nemours Children’s Health in Florida. Nemours has become an important partner in Charlie's treatment, offering expertise and support in managing his disorder.

Charlie sees multiple pediatric specialists at Nemours including speech therapists, dietitians, nutritionists, orthopedists and endocrinologists. The youngest of three siblings, Charlie shares his condition with his older brother, with whom he has learned to thrive despite EoE. Charlie, 14, enjoys cooking and learning to make allergen-free substitutions to recipes he makes. He loves school, playing soccer with friends and running with his teammates on his cross-country and track teams.

STXBP1: Malachi’s story

His initials are MVP, and no one in any field, industry or sport deserves this acronym more.

Born in August of 2017, after just nine days, Malachi began experiencing brain-damaging seizures. His mom, Hope, learned about infantile spasms, focal seizures and subclinical seizures. She also learned about his genetic disorder, STXBP1.

Fewer than 1,000 children in the world have the disorder and the limitations it creates, including severe mental delay, tremors, dysphasia, cortical vision impairment, low muscle tone and retractable seizures. Malachi is G-tube dependent for nutrition and contends with ataxia, which interferes with his mobility and ability to talk.

The search for Malachi’s new medical home

When the military family was stationed in Florida, Hope began a familiar quest for the best possible care in their new home base — research that routinely requires countless hours when her family is restationed. Beyond having a roof over their heads, finding care for Malachi is always the highest priority. Hope’s research ended the moment she discovered Nemours Children’s Health.

“All signs from my investigation indicated that Nemours Children’s offered the best clinical care, provided by passionate staff and administrators,” said Hope. “Malachi sees neurologists, nutritionists, surgeons, ophthalmologists and gastroenterologists. After a year as a patient family at Nemours, we know we could not be more blessed.”

MVP today

Hope continues, “Although Malachi and our family have gone through some of the most unimaginable and nightmarish obstacles his disorder has to offer, MVP’s infectious joy and superhero persona never falter. He enjoys being outside, seeing the trees dance in the wind and the waves crash at the beach. He likes watching ceiling fans, going to grocery stores and playing with his favorite slug fidget toy. But most of all, he loves racing alongside his brother, Declan, and friends he’s made in a local inclusive running chapter. We could not thank everyone at Nemours enough for all they’ve done and continue to do for Malachi.”

A long and Mysterious Medical Journey: Noah’s story

At 3 years old, Noah started to experience random, dangerously high fevers that would last up to a week. His extremely concerned parents took him to multiple doctors to find a diagnosis and treatment. But they were repeatedly told that Noah had an unknown viral condition.

Noah started to develop more unusual symptoms along with fevers, such as mouth sores, personality changes and stuttering. His family noticed that certain life events triggered Noah’s “episodes.”

After seeking more specialized care, in 2019 Noah was diagnosed with a rare condition known as periodic fever aphthous stomatitis pharyngitis adenitis syndrome (PFAPA).

Over the next couple of years, Noah’s symptoms became less frequent but more severe. He developed extreme pain and discomfort in his joints, which eventually rendered him unable to play with his friends outside, participate in recess, or attend school regularly.

Four years after doctors established Noah’s PFAPA, he was diagnosed with amplified musculoskeletal pain syndrome (AMPS).

“We had these two diagnoses but unfortunately we did not have a plan of action to improve Noah’s quality of life,” says Martha, Noah’s mother. “In fact, after all these years of seeing specialists and taking several medications each day, Noah’s condition continued to decline. The search for answers and treatment started to take a toll on his mental health.”

In August 2023, Noah’s family was referred to Nemours Children’s Health, where they met with a panel of medical professionals, including a psychologist, physical therapist and anesthesiologist.

Noah’s new care team assured the family that they would develop a treatment plan to address the painful effects of PFAPA and AMPS and to focus on his mental health.

“The personalized care that Noah has received from our team has given him confidence and a new outlook on life” says Martha.

Gypsy — a miniature horse in our Assisted Dog and Pony Therapy (ADAPT) program — has also played a pivotal role in Noah’s journey, and he looks forward to their time working together. Noah continues to put in a lot of work at Nemours, but his family has noticed significant improvements in Noah’s health over the past year.

Now 10, he can run around outside and play with his friends, attend gym class and other activities, and has not missed any days at school. He no longer takes several pills daily and is optimistic about his health.

Noah enjoys creating art and spending quality time with his family and five pets. He also loves school and playing basketball and video games with his friends.

“We can’t thank Nemours Children’s enough — every person we encounter has played a vital role in working with Noah to gradually identify solutions to improve his physical and mental health,” says Martha.