February 28th is Rare Disease Day
February 28th is Rare Disease Day. This is an international initiative to spread awareness and make sure that those affected by rare diseases have a voice. For the last several years, advocates in NH have joined the global effort. Governor Sununu has long supported the cause and has once again signed a proclamation officially declaring February 28th Rare Disease Day here in NH.
Patients with rare disorders often experience challenges that are unique and more serious than those faced by people with more common ailments. Since the conditions are rare, there is often very little understanding of the disease. Patients can take years before obtaining a diagnosis. Additionally, due to the complexity and rarity of their condition, there are often no identified treatments. As such, rare disease patients can often feel isolated and overwhelmed. These individuals require specialized treatments, access to the latest research and clinical trials, as well as emotional support from family and friends.
The New Hampshire Rare Disease Advisory Council was established in 2019 with the purpose of better understanding and responding to issues related to rare disorders. The public meetings give rare disease patients and their families a platform to share their experiences and inform those in legislation and the healthcare industry. This council is comprised of medical professionals, legislators, public health experts, and individuals living with rare diseases. Its members are committed to understanding the complexities of rare disorders, identifying resources for those living with them, and advocating for policies that support rare disease patients and their families.
Some of the issues currently being discussed in the Council are the need for expanded telehealth services and improving insurance coverage for medical nutrition. In addition to exploring policy issues, the Council is eager to build collaborative relationships between service providers and support community awareness about rare diseases in our region. Supporting education to both the public and medical professionals is one of the major goals for the Council in the future.
Angela Shepard, MD, MPH is the NH Medical Society's physician appointee to the Council and is a rare disease patient herself. "It is important that patients and their families know they are heard, especially when they have a rare disorder. Too often they have suffered a series of misdiagnoses or failed treatments. The existence of the RDAC shows patients that we know more has to be done."
The Council has recently begun distributing information about its meetings and other relevant issues via the Facebook page NH Rare Disorders Collaborative. Anyone interested in learning more about the Rare Disease Advisory Council or hoping to share a concern are invited to message them through that Facebook page.