Today is Rare Disease Day, which is an annual awareness-raising event coordinated by EURORDIS at the International level and National Alliances of patient organizations at the national level. Individuals, patients, patient organizations, health professionals, researchers, drug developers, and public health authorities will be taking part in this recognition. Here, from the Rare Disease Day website, are the reasons why Rare Disease Day is so important:
Rare Disease Day is the perfect occasion to inform or remind people that rare diseases need to be paid special attention to, because:
Rare diseases are life-threatening or chronically debilitating diseases with a low prevalence and a high level of complexity. Patients with very rare diseases and their families are particularly isolated and vulnerable. The life expectancy of rare disease patients is significantly reduced and many have disabilities that become a source of discrimination and reduce or destroy educational, professional or social opportunities.
The rare disease patient is the orphan of health systems, often without diagnosis, without treatment, without research, therefore without reason to hope.
The lack of specific health policies and the scarcity of expertise translate into delayed appropriate diagnosis and difficulty of access to care. The national healthcare services for diagnosis, treatment and care of rare disease patients differ significantly in terms of their availability and quality. European citizens have unequal access to healthcare services and to orphan drugs.
Research on rare diseases is scarce
EURORDIS is the voice of rare disease patients in Europe. It is a non-governmental patient-driven alliance of patient organizations representing more than 400 rare diseases patient organizations in over 40 countries. EURORDIS undertakes certain activities on behalf of its members, most notably in favor of:
Empowering rare disease patient groups
Advocating rare diseases as a public health issue
Raising public rare disease awareness, and also that of national and international institutions
Improving access to information, treatment, care, and support for people living with rare diseases
Encouraging good practices in relation to these
Promoting scientific and clinical rare disease research
Developing rare disease treatments and orphan drugs
Improving quality of life through patient support, social, welfare and educational services
I, personally, was a little confused over the difference between a disease, disorder, and a condition...especially since hydranencephaly is always termed as a condition. In fact, the terms are primarily used interchangeably. If you are unsure whether a condition that affects someone you know is considered a rare disease, you will likely be surprised to find it HERE on the database of those recognized as so. The determination of a disease as rare, is usually based upon an estimate that may likely change over any period of time. Those recognized as rare are generally considered to affect less than 200,000 individuals in the United States. Hydranencephaly, my son Brayden's condition, is said to affect 1 in 100,000 pregnancies...however statistics in this case, are hard to predict since sadly, many medical professionals advise for termination at diagnosis.
However, thanks to Rare Disease Day, recognition is being made for the millions of people affected by rare disease. You can explore the stories of some at the Your Story Photo Gallery on the Rare Disease Day website. And again, by visiting the website, there are many ways you can participate in this awareness-driven mission and spread the word.