The Sun Will Come Out
Story by April Frawley Birdwell
The sun will come out …
Addylen Reeder loves bubbles, singing and is fighting Pompe disease
By April Frawley Birdwell
The words were a whisper at first, but she was singing. It’s a moment etched in Jeff Reeder’s mind. Watching the movie “Annie” in her hospital room, his then 17-month-old little girl, Addylen, sang for the first time, echoing the words to the song “Tomorrow.” It was a few days after doctors had performed a tracheostomy, cutting a small hole in her neck so that she could be placed on a ventilator to help her breathe.
As a baby, Addylen was small, always weighing in at the bottom of the growth chart. But she met most developmental milestones until she was about 5 months old. She had trouble swallowing and grew increasingly lethargic, so Jeff and his wife, Kendra, took Addylen to a children’s hospital near their home in Hebron, Ky. There, a genetic test uncovered the problem. At just 6 months old, Addylen was diagnosed with an extremely rare form of muscular dystrophy called Pompe disease. Left untreated, babies born with this inherited condition often die before they reach age 2.
“It was devastating because our daughter is our life,” Jeff says. “We knew the severity of the disease. It was probably the worst feeling anyone could possibly have.”
People with Pompe disease are born with a faulty gene that prevents their bodies from producing an enzyme called acid alpha-glucosidase, which is necessary for processing glucose. Without this enzyme, stored sugar builds up in the muscles, causing them to degenerate. As the disease wears on, patients often develop an enlarged heart and liver and their breathing worsens, requiring the use of a ventilator.
After meeting other patients and families online, Addylen’s family found Dr. Barry Byrne, director of the Powell Gene Therapy Center at UF and a clinician-scientist who specializes in treating patients with Pompe disease.
“He was the first practitioner we came across that she was not just another patient to him,” Jeff says. “Dr. Byrne does what he is doing because he truly cares. He wants to do the best in his ability to save the lives of children. He has made himself open and available to ensure Addylen’s needs are met.”
Until enzyme therapy was approved for use in 2006, there was no effective treatment for Pompe disease. Enzyme therapy, which Addylen takes, slows the progression of the disease, but other treatments are needed to help patients recover lost function. Enzyme therapy also does not help with aspects of the disease that affect the brain and spinal cord, which play a role in a patient’s need to be on a ventilator, Byrne says.
In addition to her enzyme therapy, Addylen will soon begin a gene
therapy trial at UF, led by Byrne and a dedicated research team. The trial involves injecting a corrective gene to help restore respiratory function in patients with Pompe disease. The hope is that this will allow patients like Addylen to come off the ventilator.
“None of the patients who have ever begun assisted ventilation have ever returned to fully independent breathing,” Byrne says. “It is a lifelong commitment.”
Because of her condition, Addylen’s mobility is limited. She cannot walk or crawl and can only sit up by herself for 20 to 30 minutes at a time, but she can talk and sing and is into everything going on around her, Jeff says. She loves bubbles, the Backyardigans and has already earned the nickname “Addy-tude.”
“She likes everything for five minutes,” her dad says with a laugh. “Addy is very busy. If you are not grabbing what she wants to play with in time, she lets you know about it. She is a typical 2-and-a-half-year-old. She’s full of love.”