When Julie Parsons, MD, started her career in pediatric neuromuscular disease, there was little that could be done for patients in terms of treatment. The clinician’s role was more about keeping patients as healthy as possible and improving their quality of life.
Yet not having all the answers may have improved the patient–clinician relationship in the long run. Dr. Parsons, who is co-director of the neuromuscular clinic at Children’s Hospital Colorado, is well known for her commitment to patients and their families.
“Dr. Parsons is such a force!” said Oren Kupfer, MD, assistant professor and pulmonologist with the neuromuscular team. “She practices medicine with love for her patients, curiosity and irrepressible energy.”
This approach seems to stem from Dr. Parsons’ dedication to humanistic medicine—the definition of patient-centered care.
“Building relationships is critical,” she said. “Humanism means not just taking care of medical or mechanical issues but connecting with the patient at whatever level possible and understanding the child in the context of their family. What’s important to them?”
Though Dr. Parsons claims this attitude evolved naturally due to the lack of treatment options in neurology, her innate compassion shines through.
“Physical contact and the laying on of hands is a really important part of building a connection,” she said. “In today’s practice, this could easily be overlooked due to time constraints, efficiency issues and the need to look at a screen and type instead of making deep eye contact with people. But this is one of the best ways to make a meaningful connection.”
Laura Watne, MS, RD, CSP, is outpatient clinical dietitian at Children’s Colorado. She explained that Dr. Parsons looks at the whole child and not just their neuromuscular condition. “Dr. Parsons is a very caring clinician,” she said. “She has established life-long relationships with her patients and wants the best outcomes for them and their families.”
The opportunity to build deep relationships with patients was a key factor in Dr. Parsons’ attraction to the field. But she was also fascinated by the pathology of neuromuscular disease and the diagnostic odyssey. How long will it take to find a diagnosis? Could she and her team find the right diagnosis when so many before them have failed? How might the desire to find answers lead to bias when interpreting results?
“The pathology of neuromuscular disease is fascinating,” she said. “There is a lot of hands-on work, trying to spot patterns, but genetic and molecular biology have changed much of that in the last ten years. We have made so many strides forward.”
These advances mean that Dr. Parsons can now combine her compassionate approach with rigorous research and new treatment options. David Brumbaugh, MD, associate chief medical officer at Children's Hospital Colorado, said that “Julie not only provides amazing care to our regional community of children affected by these diseases; she is also a national leader in pushing for new therapies and research.”
One particular bench-to-bedside success story for Dr. Parsons is the drug nusinersen (brand name Spinraza), which treats all types of spinal muscular atrophy—the leading genetic killer of children under two.
“The clinical trial began in 2014, and we were elated when the drug was approved by the FDA in December 2016,” Dr. Parsons said. “It’s not a straightforward treatment, as it’s given through a spinal tap with an initial loading dose and then quarterly for life, but the results are remarkable in terms of patient strength and survival. Some kids who we are able to treat very early in life, before they have symptoms, are virtually ‘normal.’”
However, a few days after the drug was approved, its price was released. At $750,000 for the first year and $375,000 every year thereafter, the challenge for Dr. Parsons and her team is now to get insurance companies to cover the treatment.
“I’m constantly on the phone trying to educate payers about these treatments,” she said. “It’s a huge task to go through peer-to-peer reviews with insurance companies for every patient eligible for treatment, but I really believe in treating with these drugs and our patients deserve every chance.”
This dedication is understandable, considering the improvements in quality of life patients can experience with treatments for some neuromuscular disorders.
Over the last few years, the life expectancy for patients with Duchenne muscular dystrophy, for example, has extended from the teens to the late 30s, and Dr. Parsons has seen some remarkable developments during the nusinersen clinical trial alone.
“One of the happiest moments in my career happened during that trial,” Dr. Parsons said. “One of the little girls with type II spinal muscular atrophy held her arms out and walked toward me for the first time. I just wept with joy. It takes such a huge group of people and a lot of effort to develop new therapies but to see in just one child the ability to walk to me… the miracle of it all came together in that moment. I feel so privileged to be a small part of this process.”
Dr. Parsons, who was honored with the Haberfeld Family Endowed Chair in Pediatric Neuromuscular Disorders in 2014, is now pushing for new therapies and the roll out of newborn screening for neuromuscular disease.
“The earlier we identify patients the better their outcomes will be,” she said. “The main thing is that we continue to try to get these wonderful treatments to our kids. For this, we’ll need to work together. It’s going to take political movement and a nationwide effort, and will involve transparency in drug pricing. I want to make sure that I’m an advocate for these children who do not have a very large voice, and I’ll do that in whatever way possible.”
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