The word “rare” has connotations of not being important or not affecting many people. In the case of rare diseases, they affect only around 350 million individuals, a small number if one takes into consideration the entire world population of 7 billion.
Most of these rare diseases—also called orphan or neglected diseases—have no cure. And because they are rare, funding research into these diseases has always been a challenge.
Most of these rare diseases—nearly 7,000 have now been identified—are genetic and many appear early in life. Pompe disease (progressive weakness in the muscles used for mobility and breathing), and Gaucher disease (enlargement of the liver and spleen, a low number of red blood cells, easy bruising caused by a decrease in blood platelets, lung disease and bone abnormalities such as bone pain, fractures, and arthritis) are just two examples of rare diseases.
Mostly children
Seventy-five percent of rare diseases affect children and unfortunately, 30 percent of babies with rare disease will not live to the age of 5.
Here, the Institute of Human Genetics of the National Institutes of Health of the University of the Philippines Manila has identified over 200 Filipinos, mostly children, afflicted with one of the 30 rare disorders identified and registered in the country. The Philippine Society for Orphan Disorders Inc. (PSOD), on the other hand, has recorded at least 145 patients.
According to Dr. Carmencita David-Padilla, who is the founding chair of PSOD, there is a critical need for new potential therapies considering that the vast majority of rare diseases have no approved treatment options.
Padilla, who is also the director of the Newborn Screening Reference Center as well as the executive director of the Philippine Genome Center Philippines, said that since 2010, the last week of February of every year is declared the “National Rare Disease Week.” This is intended to raise awareness about rare diseases, the challenges encountered by those affected, the importance of research to develop diagnostics and treatments, and the impact of these diseases on patients’ lives.
The observance is important because rare diseases can be chronic, progressive, debilitating, disabling, severe and life-threatening. And because information is often scarce and research is usually insufficient, those individuals affected face challenges such as delays in obtaining a diagnosis, misdiagnosis, psychological burden and lack of support services for the patient and family.
Highest health standard
The goals remain for patients with rare disease to obtain the highest attainable standard of health and to be provided with resources required to overcome common obstacles in their lives.
Fortunately, there are a handful of companies that continue to invest to find cure for a number of these rare diseases. This is because when cure is discovered, it often leads to the discovery of potential treatments for chronic conditions from which many more people suffer. In fact, statins were discovered this way. This group of drugs now widely used to treat high cholesterol, was initially developed for a rare disease called familial hypercholesterolemia (presence of very high levels of cholesterol in the blood).
Bisphosphonates is another example. First developed to cure a rare disease called hypophosphatasia (inherited disorder that affects the development of bones and teeth), this class of drugs is now used extensively to treat common bone disorders such as osteoporosis.