Fighting Emergency Medical Protocols that Endanger Rare Disease Patients

Darlene Shelton was proud of the clever bit of safety gear her family had installed in their vehicle for her grandson Danny, who has the bleeding disorder hemophilia B.

Because of the rare, genetic condition, Danny has a deficiency of factor IX, a protein that works with platelets in the clotting process. When blood vessels are injured, clotting factors help platelets stick together to plug breaks in the vessels and stop bleeding. Many patients with hemophilia experience spontaneous bleeding that can cause progressive and debilitating joint damage. When an injury happens, such as one that can occur in a car accident, getting a dose of clotting factor can be a matter of life or death.

The solution Danny’s family hit upon was to place a Medic Alert on his headrest with factor IX in a pack attached to his car seat along with medical orders and dosing instructions. Whenever Danny rides in the vehicle, his factor IX is within arm’s reach.

Many patients with a rare disease may face similar issues. In the case of a medical emergency, they may need ambulance workers or emergency room doctors to administer specialized medications or follow protocols unique to their rare condition. What Shelton eventually discovered, though, was that she and her family were finding comfort in a false sense of security. That realization set Shelton off on a quest to change laws across the United States.

One day Darlene happened to tell her friend Wayne, who like Danny has hemophilia B, about the terrific job the family had done to protect her grandson in the event of a car accident. Wayne had a sobering response.

“It won’t do any good,” he said.

Wayne spoke from experience. Many years before that conversation he had been in a car accident in New York. He hit his head and broke his wrist and couldn’t give himself his factor IX treatment. When an ambulance arrived, he explained that he had extreme hemophilia and needed his medicine. The ambulance workers refused to administer his medication. He explained his situation to the emergency room doctor, but the doctor also refused to administer the factor IX. Wayne was bleeding into his brain. A nurse called in his wife, who administered the factor IX Wayne needed.

The problem, it turns out, is that emergency medical technicians and emergency room doctors each have their own set of protocols established by the organizations that set standards for their work. These protocols are created with a general patient population in mind. In most cases, they fail to consider the special needs of patients who may have a rare condition. Medical professionals may also avoid administering such medications for fear of liability if medications have not been stored properly, dosing instruction are unclear, or anything goes wrong.

When Shelton found this out, she called around to a number of hemophilia organizations, as well as other places where she thought she could get corrective action including the U.S. Department of Health and Human Services. “I always think go big or go home,” she said.

Despite her efforts, Shelton was getting no replies. When she talked to parents of children with hemophilia, some seemed to know about the problem. “There’s nothing we can do about it,” they told her. “We just pray we never have a car wreck.”

Shelton refused to accept that. She established Danny’s Dose Alliance, an organization that is seeking to pass legislation to allow emergency medical workers to administer life-saving medicines carried by patients. It is also seeking to educate emergency medical workers, physicians, rare disease patients, and legislators about this misalignment between emergency protocols and the needs of rare disease patients.

In May 2017, about two years after beginning the effort, Missouri (the home state of Danny’s Dose) became the first state to pass legislation to allow emergency medical technicians to administer patient-carried medicines in an emergency. Shelton has made progress with state EMS associations, but less so with emergency medical associations.

One thing Shelton tries to train families to do is carry written medical orders from their doctor on letterhead in case of a medical emergency.

Her organization continues to try to get similar legislation passed elsewhere. There are efforts underway now in about half a dozen states. Though Shelton was told she could have an easier time passing the legislation if she limited her efforts to hemophilia, she found that unacceptable.

“We want to make sure we protect anyone with special medical needs in an emergency,” she said. “We were behind that because everyone’s life is important.”

October 30, 2018
Photo: Darlene Shelton, founder and president of Danny’s Dose Alliance (in white), watching the signing of legislation in Missouri in 2017