Baby Charlie's Journey

Gaining strength through therapies to overcome a rare genetic disorder.

Four-month-old Charlie was born with Ryanodine Receptor 1 Related (RYR-1) Myopathy, a rare genetic disorder that disrupts the flow of calcium in muscle cells, limiting the muscle's ability to contract. Diagnosed with low muscle tone at birth, Charlie was transferred from the NICU to Blythedale Children's Hospital for comprehensive rehabilitation and feeding therapy

baby with rattle

Once at Blythedale, Dr. Xiaofang Wei, a pediatric physiatrist, met with Charlie's parents, Jennifer and Justin, and reviewed her diagnosis. Typical to the diagnosis, Charlie had limited movement in her head as well as her arms and legs. As a physiatrist, Dr. Wei, worked closely with Charlie's occupational and physical therapists to strengthen her muscles and to increase her range of movement. 

Jennifer remembers watching Charlie when she was first born, only able to move her hands slightly. After three months of intensive rehabilitation at Blythedale, Charlie is now able to move her head side-to-side, reach for objects with her hands and follow with her eyes.

physiatrist with baby and therapist

"The other day, I was holding her, and she held her neck up by herself, which she couldn't do [before]," said Jennifer. 

Charlie also advanced with her feeding therapy, and began receiving optimal nutrition through a gastrostomy tube (g-tube) to supplement her bottle feedings. Charlie made so much progress toward her clinical goals that she was discharged home on a very lucky Friday the 13th. 

occupational therapist and mom and baby

She continues to receive outpatient therapies at Blythedale, where Dr. Wei continues to closely monitor her progress. At home, Jennifer reports that Emma, Charlie's older sister, "loves to practice Charlie's therapies with her and Charlie can't take her eyes off her big sister."

As for the future, Jennifer knows that Charlie will continue to receive physical and occupational therapies as she gets older but it won't limit on what she can do.

"She's going to be a happy baby, a happy child."