During prenatal ultrasounds, it was discovered that Ana was positioned in her mother’s womb in the shape of a C. Her hands were tightly clenched and she had bilateral clubfoot.
Further testing led to a diagnosis of arthrogryposis multiplex congenita. Arthrogryposis is a rare condition that affects muscle development and joint mobility, and occurs in approximately 1 in 3,000 children. As the diagnosis became clearer, Ana’s mother, Danielle, and her family faced overwhelming conversations. Providers warned that Ana’s life could be very short and encouraged them to prepare for the possibility of end-of-life care. Bracing for the worst, they made those plans while still holding onto hope.
At 39 weeks, Ana was born. After four days in the NICU, Danielle and Ana’s father, Nicholas, were able to bring their daughter home and begin the next chapter of her journey.
Upon discharge, Ana was referred to Shriners Children’s Erie, where the specialized services she needed were available in one place. The family was already familiar with the exceptional care there because three of Ana’s older siblings had previously received treatment at Shriners Children’s.
Without question, Shriners Children's Erie was the best place to come.
When she was 11 days old, Ana had her first appointment at Shriners Children’s. She met with Ozgur Dede, M.D., who evaluated her clubfoot and began treatment immediately. Casting improved the position of her feet and ankles, and he later performed a tenotomy, or tendon lengthening, to increase her ankle range of motion. With her orthopedic care underway, Ana’s treatment plan expanded to include therapies that supported her overall movement and development.
Ana now receives physical therapy to support her growth and development. She was born with torticollis which caused a severe head tilt at birth and affects her head position, neck flexibility and motor skills. Teresa Emerson, PT, gently stretches and strengthens Ana’s neck muscles, and also stretches her feet and ankles to maintain the mobility achieved with Dr. Dede’s care. She supports Ana’s early gross motor development through activities like modified tummy time, rolling and supported sitting. Each activity is adapted to meet her needs while building strength, control and age-appropriate movement. As part of her treatment, Ana wears a tubular orthosis for torticollis collar at intervals throughout the day to improve head positioning and promote neck strength.
“Educating Ana’s parents has been a key focus in her care,” said Emerson. “By empowering them with exercise techniques and developmental activities, we can help ensure consistency and carryover in Ana’s progress at home.”
In addition to physical therapy, Ana receives occupational therapy with Allison Blatt, OTR/L, to support her early development. She is working on foundational skills such as playing, bringing her hands together, self-soothing, and developing the movements she will need as she grows. To support these goals, Blatt uses gentle stretching and custom splints to improve her wrist’s positioning. Fixing the position will increase flexibility and promote functional movement in her arms. The splints are adjusted as Ana grows and her range of motion continues to improve.
Occupational therapy sessions center on play. With adaptive equipment, Ana practices engaging with toys in meaningful ways. Adaptive toy holders help her grasp and shake toys, encouraging cause and effect while building strength and coordination in her shoulders and trunk.
“I have been using a tool that assists Ana with grasping objects and we have seen her begin to shake the toys using her left shoulder and trunk,” said Blatt.
Now 10 months old, Ana is reaching meaningful milestones with the support of therapy at Shriners Children’s Erie. She holds her head in a more neutral position during play, rolls independently from back to stomach, and is progressing toward sitting with less support. Improved range of motion in her arms allows her to bear weight and rotate into new positions. Small moments, like activating a toy on her own, reflect her growing confidence and independence. While her milestones may look different from those of a typically developing child, therapy at Shriners Children’s Erie has helped Ana find adaptive ways to move, explore and engage with the world around her.
Ana’s care also extends to Shriners Children’s Philadelphia, where she is followed by a specialized orthopedic team. Under the care of Sarah Nossov, M.D., Ana is being treated for recurrent clubfoot. “Once Ana’s feet are in the perfect position, she will be fitted with braces to support her lower extremities, helping her build the stability needed for standing and eventually, walking,” said Nossov. Orthopedic surgeon Dan Zlotolow, M.D., is also working to improve the function of Ana’s upper extremities, supporting her ability to move, explore and gain independence.
Ana has many therapies and appointments ahead, but Danielle remains focused on her daughter’s progress. “The reward is much greater than the challenge,” she said. Throughout this journey, the staff at Shriners Children’s Erie has provided not only medical care, but also emotional support, guidance and encouragement.
Ana lies peacefully on a soft blanket, surrounded by a vibrant bed of blooming flowers.
Ana wears her tiny custom splint, carefully fitted to gently stretch and support her wrist, increase her range of motion and promote stronger, more functional movement.
Ana enjoys tummy time with her babydoll by her side.
One of the custom splints thoughtfully crafted by occupational therapist Allison Blatt is photographed.
