If you or a family member has a rare disease such as porphyria, it may help to plug into health advocacy efforts. These generally promote health and access to care at individual and community levels.
Here is more information about advocacy and ways in which it could help you.
Porphyria refers to a group of disorders in which porphyrins (chemicals that help make the hemoglobin protein in red blood cells) accumulate in the body. The disease can be either acute or cutaneous.
An acute porphyria attack can lead to dehydration, breathing problems, seizures, and high blood pressure, and it can be life-threatening.
Cutaneous porphyria symptoms include pain-causing sun sensitivity, sudden painful skin redness and swelling, blisters on exposed skin, and itching. Red or red-brown urine and excessive hair growth in affected areas are also symptoms of cutaneous porphyria.
Health advocates support and promote patients’ rights in the healthcare arena. They also help build capacity to improve community health and enhance health policy initiatives that are focused on available, safe, and quality care.
Patient-centered care is a key goal of health advocacy, in addition to safer medical systems and more patient involvement in healthcare delivery and design.
Policy-wise, advocates identify emerging public health issues that require action. They gather information on existing practices related to public health, monitor related legislation, and provide feedback on how certain issues affect communities. They also may help guide health policy reforms.
Advocates may act within organizations such as public health associations or patient organizations. Advocacy is typically carried out using multimedia platforms, political lobbying, and community mobilization.
Porphyria advocacy groups
An advocacy group for porphyria is the American Porphyria Foundation (APF). It works to improve the health and well-being of individuals and families affected by porphyria. Its focus is advocacy, education, support services, and research for the prevention, treatment, and cure of the disorder.
The APF was among patient groups to receive a grant through Alnylam Pharmaceuticals Advocacy for Impact grants program last year. The program aims to help advocacy groups address unmet needs in rare diseases.
Currently, the APF, with help from patient advocacy groups the Global Porphyria Advocacy Coalition and the International Porphyria Patient Network, is asking those with acute hepatic porphyria to participate in the Porphyria Worldwide Patient Experience Research study. The survey seeks to better understand the emotional, mental, and physical burden the disease places on patients, family, and friends.
There is also the Porphyrias Consortium, which includes six porphyria centers in the U.S. and seven satellite sites that provide expertise in diagnosing and managing porphyria patients. It also provides training to young physicians who will be the future medical and research experts for these rare disorders.
Rare Disease Day takes place on the last day of February each year. Its main objective is to raise awareness among the general public and decision-makers about rare diseases like porphyria and their impact on patients’ lives. Advocacy takes center stage, and organizers may teach participants how to take action locally.
There’s also Rare Disease Week on Capitol Hill, which this year will take place July 19–22. The occasion will bring rare disease community members from across the country together to learn about federal legislative issues, meet other advocates, and share their personal stories with legislators.
The National Organization for Rare Disorders (NORD) is a nonprofit patient advocacy organization that works on behalf of people with rare diseases and the groups that serve them. In addition to organizing the U.S. portion of Rare Disease Day, NORD has advocated for healthcare services such as telehealth — remote healthcare via telecommunications — which can help people with porphyria and other disorders get access to healthcare. Through an initiative that seeks to establish a Rare Disease Advisory Council in every state, NORD is also working to empower and equip members of the rare disease community to engage state leaders in matters of importance to patients and their families.
Last updated: Feb. 9, 2021
Porphyria News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
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