Rare diseases can leave patients feeling isolated and suffering in silence across the globe. A lot of work has been done to raise global awareness about common and devastating diseases and illnesses, like certain cancers and Alzheimer’s, for example. However, diseases that do not affect as many people have been overlooked. What is worse is that treatments may be hard to come by. When there is not enough information or awareness about rare diseases, it can take a long time for patients to get a diagnosis and even longer for them to get treatment that they need, if it at all.
The consequences for unequal access to rare disease treatment can be monumental.
Even the United States suffers from a lack of awareness about more rare and specialized conditions and developing countries fare even worse. There are as many as 8,000 rare diseases, from blood disorders to cystic fibrosis. Even so, rare disease research is scarce and not funded which can result in delays for diagnosis, misdiagnosis, and delayed treatment.
Dr. Lucia Monaco, who works for the International Rare Diseases Research Consortium (IRDiRC), is working hard to raise global awareness about rare diseases and to give all people the right to accurate and timely diagnoses for rare diseases and any available treatment one year or less after diagnosis.
The IRDiRC has been at the forefront of forging global research on rare diseases, which has accelerated trials and new treatments.
One difficulty of the process is that there needs to be better collective communication and alliances in all countries across the world to move for equal access to treatment in rare diseases. This can be especially difficult considering language barriers with medical staff and patients as well as relocation problems related to global trials, such as when an area or country may only have a small number of patients with a certain disease.
Places like Japan, Canada, and Europe have had large surges in rare patient awareness and treatments but other places have not had as much progress, with Africa being especially susceptible to lack of rare disease awareness. Africa currently does not have any rare disease registries.
The rare disease patents and community itself has been a strong moving force for increased awareness in advocating for new diagnosing measures and procedures and well as therapies for rare diseases.
Each year, the final day of February is Rare Disease Day and it aims to raise awareness from policymakers and the general public.
“Every disease is important in every life is important,” Dr. Monaco says.
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