She's a feisty 3 year old who is surviving a rare condition called Pompe Disease. The condition, which causes progressive muscle weakness and can lead to respiratory failure, was once thought to stop most infants from reaching their first birthdays. Not Stella. This energetic and charming preschooler is always ready for an adventure. Each day she undergoes a combination of intensive enzyme, physical and occupational therapies, and manages to do so with a smile.
At 5 weeks old, Stella’s condition was discovered after the family’s doctor noticed a problem with her respiratory system. “He said she was too young to be wheezing that badly. I thought it was just a bad cold,” said Stella’s mother, Jacqui Knicos. Following the appointment, an urgent echo ultrasound revealed Stella had an enlarged heart and was diagnosed with Pompe Disease. Immediate diagnosis improved her chance of survival andpresented opportunities for treatment, but Stella and her family would face challenges everyday.By the time she was 7 months old, Stella’s heart returned to normal size; now at the age of 3, Stella is able to thrive with the help of weekly enzyme infusions at St. Christopher’s Hospital and outpatient therapies at Children’s Specialized Hospital.
Most of Stella’s time at Children’s Specialized Hospital is spent in the pool for aquatic therapy; her physical therapy supervisor Sanda Nussenfeld has seen great improvements in Stella’s ongoing rehabilitation. “Her training in the pool has greatly improved her balance out of the water,” said Nussenfeld. “She doesn’t give up. If something is physically exhausting for her, she may get angry with you, but she always comes back like it never happened. She knows she is here to do her little job, and she knows how to hug you to get out of things,” said Nussenfeld.
As treatments and medical advances for Pompe Disease continue to develop, Jacqui Knicos holds great hope for her energetic daughter. “I know it’s going to get better,” she said. “She’s a fighter, and she’s our miracle.”