A rare disease diagnosis can be hard to digest and comprehend. What does the future look like? Will I be able to get the treatment I need to live with the diagnosis? Aside from that, the financial burden can often be monumental and unknown. But increased research and resources dedicated to rare diseases have given people a lot of hope.
In the United States, 30 million people – or 1 in 10 – are living with a rare disease. Some examples of the more than 7,000 diseases that are classified as rare are Hereditary Angioedema, Spinal Muscular Atrophy, Cystic Fibrosis, Duchenne Muscular Dystrophy.
Patients with rare diseases can face multiple challenges; delays in diagnosis or misdiagnosis are a few. When a disease is diagnosed, treatment options can be limited – and in many cases – nonexistent; however, over the years, there have been significant advances in developing medication used to treat patients with rare diseases. For example, Spinal Muscular Atrophy (SMA) is a genetic disease that was once thought to be untreatable but now has treatment options. Some include gene replacement therapy, which involves replacing the missing or not functioning gene in the body’s cells to treat the specific disease.
“I truly value the role that I am in as a counseling clinician for the Rare and Complex disease team. I have this beautiful opportunity to not only help our very complex patients get their life-saving medications but also encourage them to have hope. Helping them believe in something that can improve their quality of life often motivates them to keep going. That is incredibly rare and a gift for me to be part of.” – Shanna Martin, RN.
At Shields, our care model is built around putting the patient first. We provide a high-touch service for patients with rare diseases and complex conditions. Our vast growing network of health-system-owned specialty pharmacy partners provides an innovative approach to specialty pharmacy at scale. By enabling direct provider engagement coupled with the ability to leverage a fully integrated platform, we can follow a patient’s journey throughout the continuum of care.
“To have the opportunity to serve patients in the rare disease community is a privilege. As our team communicates with patients and families, we recognize that they may feel isolated due to their complex conditions. We strive to demonstrate that our healthcare team truly cares and supports them throughout treatment. Our goal is to make each interaction personal and encouraging. Kindness connects us as we walk each individual through their prescribed specialty therapy.” – Laurel Roberts, RN, CH
Improving lives and elevating performance are at the heart of everything we do. We are so proud of the work our teams do within the rare disease space as well as the impact their efforts have on our partner’s patients every day.