Ever since 9-year-old Katie was diagnosed with spinal muscular atrophy at 18 months, her parents have made sacrifices to get her the best care. They got her a CPAP machine to treat her sleep apnea and a power wheelchair. They’ve rushed Katie to the emergency room, sat by her after multiple surgeries, and monitored her for pneumonia.
When a new Pediatric Muscular Dystrophy Program opened in New Haven last year, it cut down on time and stress related to doctor visits, says Katie’s father, who drives from Mystic for appointments. “The doctors all pretty much work together, so we can set up appointments for the same day,” he says.
Located in Yale-New Haven Children’s Hospital’s Pediatric Specialty Center at One Long Wharf, the program is one of only five pediatric clinics in New England supported, in part, by the Muscular Dystrophy Association (MDA). Families of children with muscular dystrophy and muscle weakness disorders like Katie’s can see three different specialists, together or separately, in one visit. One Long Wharf is a short drive from Yale’s medical center and has free parking with ample spaces for people with disabilities.
Support for families
The convenience is a relief for families coping with the demanding, multifaceted disease, says pediatric orthopaedist Brian Smith, MD, who staffs the program with two other specialists, pediatric neurologist Geoffrey Miller, MD, and pediatric pulmonologist Sumit Bhargava, MD.
The three doctors have met families who previously received their child’s care piecemeal—even driving to Boston to see a pulmonologist, to Philadelphia for a neurologist, and to Hartford or New Haven for an orthopaedist. “For many of these families, especially those with children in wheelchairs, it’s difficult to have multiple appointments on different days.,” Dr. Smith says. “We can alleviate some of the stress for them. We can answer all of their questions and know that everyone is on the same page, which is especially important for these children with complex disorders.”
Families can book appointments on the first Wednesday of each month, and the doctors expect to add additional days as demand increases. Dr. Miller provides triage, deciding which specialists each child needs to see. Each new patient is given a full evaluation, checking sensation, muscle tone, range of motion, strength, gait and balance. Depending on the patient’s needs, the doctors may perform or prescribe such tests as electrocardiography, electromyography, pulmonary function tests and polysomnograms (overnight sleep studies). Patients continue to visit the clinic twice a year for routine follow-up care.
Types of disorder vary
Muscular dystrophy impacts an estimated 700 children, adolescents and teenagers in Connecticut, who may have one of more than 30 genetic diseases, characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Like Katie, many young patients are diagnosed with a muscular disorder when they should be starting to crawl or walk, and by 10 years old they are navigating in a wheelchair. But the disorders also vary by age of onset, the amount of muscle weakness caused, how quickly the disease progresses, and the pattern of inheritance in the family.
While there is no cure for the disease, physical, respiratory and speech therapies help, as do orthopaedic appliances used for support, and corrective orthopaedic surgery. Some patients benefit from occupational therapy and assistive technology, such as assisted ventilation to treat respiratory muscle weakness, and a pacemaker for cardiac abnormalities.
Individually tailored treatment
It helps to monitor the disease, says Dr. Bhargava, adding that patients tend to have multiple and complicated surgeries, and controlling problems in advance contributes to quality of life and better surgical outcomes.
“I think staying on top of these patients is really the best thing that we do,” says Dr Bhargava. “We can provide referrals to pediatric cardiology if they are at risk for heart problems. We involve a dedicated social worker with every family who can help address access to resources and provide referral for mental health care if necessary. We can send the parents to a geneticist if they are interested in having more children. As we preserve the patient’s quality of life and treat their other medical problems, they won’t go weeks stuck in the hospital—they can be at home with their families as they should be.”
To contact Yale Pediatrics, please call 203-785-4081.