As a parent, Allyson Weber has been through more than most of us can imagine.
It started in 2001 when her first son, Timothy, was born. Allyson, an RN, was concerned when his development seemed delayed. A kick toy friends purchased for the baby stayed in its box, because he never kicked. Allyson shared her observations with Timothy’s pediatrician, who suggested a consult with a pediatric neurologist.
The diagnosis was devastating – Spinal Muscular Atrophy (SMA) Type 1. Similar to adults with ALS, babies with SMA lose their ability to breathe, move and talk. The neurologist told Allyson and her husband to bring their son home and enjoy him while they could. Sadly, he passed away several months later.
Their second child tested negative for SMA and was born healthy.
In 2008, tragedy struck again when their third child, Christopher, tested positive for SMA in utero. Seven years after Timothy passed away, there was still no treatment or cure. Desperate to help her son, Allyson enrolled Chris in a clinical trial. He was accepted, but sadly, the medication did not slow his disease.
Caring for a child with SMA is all-consuming . Almost daily therapy and doctors’ visits are the norm, and Christopher was frequently hospitalized with respiratory infections and had severe difficulty eating.
Through research, the Webers had learned about a drug called Spinraza®, which looked like a promising treatment for children and toddlers with SMA. In 2017, 9-year-old Christopher went to Boston for treatment with the recently-approved medication.
Christopher’s response to the medication was phenomenal. Not only did his fine motor skills improve, but he started to speak. This was a huge step for a child who had never even made sounds before. The respiratory illnesses that used to land him in the hospital on a ventilator all but stopped.
Allyson wanted to do everything she could to maximize the effects of the drug and looked for a pediatric inpatient rehabilitation provider for Christopher. When other organizations told Allyson that insurance would never authorize inpatient rehab for a child with SMA, Good Shepherd pediatric physiatrist Kimberly Kuchinski, MD, MPH, went to bat for Christopher and secured the needed insurance approval for a stay at Good Shepherd’s Pediatric Unit in Bethlehem.
During his stay, Good Shepherd’s specialized therapists worked with Christopher for at least three hours every day. He also had regular visits with Dr. Kuchinski and the pediatric hospitalist who oversaw his medical needs. After just a few weeks, his progress was incredible. Not only could he stand again, but there have been gains made in his language development, vocabulary and articulation. VitalStim® therapy has made it easier for Christopher to swallow and enjoy meals with his family.
“As a physiatry based health-care provider, Good Shepherd’s sole focus is on restoring function, regardless of the diagnosis,” says Dr. Kuchinski. “Despite Chris’ condition, we were able to significantly improve his quality of life.”
While no one knows what the future holds, Allyson says that Christopher can do more on his own now. He can click and drag a mouse, which has made his home-based schoolwork more enjoyable for him. In fact, Christopher has set his sights on attending a special camp for kids with his condition.
“Other hospitals simply do not have the treatment modalities that Good Shepherd has,” says Allyson. “Their rehabilitation expertise and technology have helped Christopher do more than ever before, even with a disease that was previously considered non-treatable.”