​Children and Rare Diseases
Kathy Beach
Feb 27, 2017

The most difficult part about being a nurse practitioner in rare disease research is seeing the impact these disorders have upon children. There are roughly 7,000 known rare diseases affecting 350 million patients worldwide. Half of those patients are children, and one-third of them won’t live to see their fifth birthday.

As we honor Rare Disease Day on February 28, I think it is important to acknowledge these most vulnerable patients, and the heartbreak their families go through each day.

A helping hand

Rare disease patients face so many challenges above and beyond what most patients deal with. To begin with, it can take years to get a diagnosis or to find treatment centers, physicians or experts who are aware of their conditions. Patients living with rare diseases visit an average of seven physicians over a course of almost five years before receiving an accurate diagnosis. Even then, there may be few if any treatments, and they can be prohibitively expensive.

On the other side are the biopharma companies that are developing new treatments to address these unmet needs. They are often smaller and leaner organizations with limited resources to find patients and their caregivers, which can leave patients and their families to navigate the treatment journey on their own.

I’ve seen many examples in which families need additional hand holding, education and support before they can fully incorporate a new treatment into their routine. This is where nurse educators can be a valuable addition to the care delivery team. While nurse educators don’t administer treatments, they support and empower these patients and their families throughout the care journey, helping them understand what the treatment involves, why it is so important and what resources may be available to improve their outcomes.

Nurse educators in the rare disease space wear a variety of hats. When patients are first diagnosed, they spend time talking about next steps and what they need to do to be successful. That may include helping them gather educational materials, connecting them with patient communities, and talking through any fears or concerns. At the same time, they can act as a bridge between the patients’ family and the rest of their care network, and talking with their physicians and nurses about the care plan.

The nurse educator can also take on the role of problem solvers, speaking up for the patient when they have a need, and advocating for solutions on their behalf. For example, there is a nurse educator who supports a young girl who requires weekly four-hour treatment infusions for her condition. The child’s mom wanted to take her children home to visit family for the holidays, but because of the timing of the trip and clinic closures, her daughter was going to miss her weekly treatment. Skipping a treatment could have had significant consequences on the child’s care, so the nurse educator worked with the clinic, the physician and the mother to ensure her daughter could get her treatment on time while still being able to spend Christmas with their extended family. If she hadn’t been there to advocate for the child, chances are the mom would have skipped the treatment. It’s just one of many examples of the role nurse educators can play in helping rare disease patients adhere to their treatment so they get the best chance at a longer and better life.

In the best scenarios, biopharma companies could bring nurse educators into these patient engagement conversations earlier in the process so they can start building relationships with patients and care team developing a foundation of trust between the family and the treatment provider. The stronger these bonds are in the beginning, the better able we are to address the treatment obstacles they face so they have the best possible outcomes. And in the end, the patient will benefit.

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