100% for Daniel
Colds, coughs, sneezes and the flu are part of any cold weather season.
In December 2010, Daniel had all the usual symptoms of the every day flu until he began vomiting. Daniel’s mom, Nancy, brought him to John C. Lincoln, Deer Valley for evaluation.
While being treated doctors noted that Daniel had elevated liver enzymes and recommended that they follow up with their pediatrician upon discharge. Daniel’s pediatrician referred him to a pediatric geneticist. After a repeat lab analysis, Daniel was given the clinical diagnosis of Duchenne Muscular Dystrophy. The diagnosis was given on March 11, 2011, a day Nancy will remember:
“After getting the diagnosis we were devastated and lost with a diagnosis that we did not expect in our family, with a disease that we knew nothing about," says Nancy. "After that we had to learn how to navigate the system, struggling with medical insurance to get genetic testing and identify the specific type of mutation that Daniel has.” Daniel was then referred to Dr. Bernes and the Neuromuscular Program at Barrow Neurological Institute at Phoenix Children’s Hospital.
“I received a telephone call from Nancy Quay in the beginning of July, scheduling our appointment with Dr. Bernes. That was the day everything began to organize for us,” Nancy says.
Daniel had his first appointment in the Neuromuscular Program a few weeks later. The Neuromuscular Program is designed to coordinate care for patient by connecting them to resources and medical specialties in a patient-friendly, easy-to-navigate way. “The hardest part about giving a diagnosis of Muscular Dystrophy is trying to explain to the patient and families what that means. Neuromuscular diseases affect so many different systems and functions,” says Nancy Quay, RN, MSN, CNRN, Clinical Manager.
The time that Dr. Bernes and Quay spend with families helps those families understand the diagnosis and make a plan for the future. “The doctor gave us a lot of information, a guide for families to understand the diagnosis and management of Duchenne Muscular Dystrophy, contact information for the Parent Project Muscular Dystrophy Association and referrals to see a cardiologist, pulmonologist, physical therapist and orthopeadic doctors," says Nancy.
One of the key components to understanding neuromuscular diseases is genetic testing. Acquiring the appropriate testing allows the team to create a more comprehensive, holistic and individualized plan of care for the patient. “Genetic confirmation is the standard of care. Identifying the exact deletion or duplication can predict prognosis, direct therapy and predict carrier status. Unfortunately, insurance companies are often reluctant to cover the testing needed. It is critical we secure funding for genetic testing for our patients. This noninvasive method of diagnosis should be mandatory,” Dr. Bernes says.
Luckily for Daniel, they were able to have the necessary testing and develop a treatment plan specific to his needs. The goal of most treatment plans is to prolong the use, strength and functionality of the muscles and bones. Many patients, including Daniel, begin a steroid regiment as part of their treatment plan. “Daniel started taking a steroid in May 2012 and although this drug has many side effects, right now it is giving him more strength. He is stable and happy,” reports Nancy.
The care provided in the Neuromuscular Program gives families hope for the future. “Our lives changed completely and our future is uncertain," says Nancy. "Although sometimes the sadness is very large, we have hope, waiting for a better treatment and cure for Duchenne Muscular Dystrophy."