FOR THE past months, awareness about amyotrophic lateral sclerosis (ALS) has grown, with the ALS ice bucket challenge going viral on Philippine social media last July. The challenge, wherein the participant has to dump a bucket of ice water over his or her head, aims to promote awareness about ALS and to encourage donations towards research about the disease.

Even various television personalities and politicians joined in on the trend. In support of the fight against ALS, Senator Juan Edgardo “Sonny” Angara took part in the campaign, posting a video of his ice-cold shower online. Furthermore, as a declaration of his advocacy for rare diseases like ALS, he filed Senate Bill No. (SBN) 2383 or the Rare Diseases Bill of the Philippines last August 28.

One of a kind

ALS is only one of the many rare diseases looked after by the Institute of Human Genetics of the National Institutes of Health (NIH)-University of the Philippines, Manila. According to Dr. Mary Ann Abacan, consultant geneticist and metabolic specialist at the institution, they have been actively managing patients found with these illnesses since 1991, under the leadership of Dr. Carmencita David-Padilla and Dr. Eva Cutiongco-de la Paz.

Abacan explains that different countries have a variety of ways to define what rare diseases are, saying, “In the Philippines, we define rare diseases as those occurring in one out of 20,000 live births. Rare diseases are also known as ‘orphan disorders.’”

She adds, “Due to the rarity of these conditions, they have been ‘abandoned’ or ‘orphaned’ by research and drug companies.”

There is also a lack of health practitioners in the country with expertise regarding rare diseases. “The nature of their illness is hardly known due to lack of information and only a handful of medical professionals in the country are aware of these disorders and know how to diagnose and address these conditions,” says the Philippine Society for Orphan Disorders (PSOD) on an article in their website.

Based on a statement given by Angara to the press last August, the government has also shown little support for rare disease patients and research centers in past years.

There are currently 227 cases under observation by the PSOD, covering around 48 diseases. NIH is currently handling some 350 cases. The most common of these diseases is the maple syrup urine disease—caused by the inability of the body to process certain amino acids—and mucopolysaccharidosis II—caused by the absence of a particular enzyme. The two diseases have 126 and 49 listed patients with the PSOD, respectively.

Common goal

The NIH and the PSOD are considered to be the leading authorities when it comes to rare diseases in the Philippines.

The NIH introduced newborn screening to the country in 1996, making early diagnosis and intervention possible. Although the institute is currently only screening six diseases in newborns, future expansion hopes to detect as many as 28.

On the other hand, the PSOD is, according to Abacan, a non-profit organization “comprised of advocates and parents of children with rare diseases.”

Both organizations are hoping for the passage of the bill to make the diagnosis and treatment of rare diseases easier and more accessible to the public.

“The diagnoses of rare diseases also come at an expense because we need specialized tests,” Abacan says. “This is why we are hoping that the Rare Diseases Bill will become a law. This will help to provide comprehensive medical care for our patients.”

More on the bill

In the event of the bill’s passage, the NIH will be in charge of maintaining a national database with information on the rare diseases, as well as a registry of patients. The database is meant to aid research.

Passage of the bill would also prompt the Department of Health to create an Office of Rare Diseases. This office will deal mainly with research and development of treatments and cures. It will also assist the NIH in the creation of the rare disease registry.

Lastly, the office will conduct programs to educate the public on rare diseases and will help them understand the needs of patients.

Other lawmakers have already shown their endorsement of the campaign for rare diseases. On October 21, 2013, Sen. Miriam Defensor-Santiago initiated SBN 1868 or the Pediatric Rare Diseases and Conditions Research Act, which “mandates the NIH to conduct research on pediatric rare diseases and conditions.”

Similarly, Sen. Pia Cayetano filed SBN 2098 or the Rare Disease Act of 2014 in February to support the cause, with Cagayan 3rd District Congressman Randolph Ting doing the same in the House of Representatives through House Bill No. 3896. Sen. Cynthia Villar and Sen. Lito Lapid also share the advocacy, setting off bills 2279 in June and 2407 in September, respectively.

The mentioned legislations, along with Angara’s SBN 2383, are efforts towards giving patients afflicted by orphan disorders the adequate medical care they need and these are all still pending in the Committee.

Participation by awareness

Aside from filing the bill, Angara also promised to donate US $100 to the PSOD every month for the next year as part of his fulfillment of the ice bucket challenge.

“Definitely, this ice bucket challenge craze would eventually die down,” he said. “There is a need to integrate public educational and informational campaigns in the current programs of the Health Department to identify persons afflicted with rare disease and help the public understand the special needs of such persons.”

Abacan welcomed the popularity of the ALS ice bucket challenge, especially the curiosity it sparked in social media users who have watched the videos.

“The curiosity these events generate leads to awareness,” she said. “By being aware that rare diseases do affect Filipinos, we are able to actively participate in making a difference in the lives of these patients.”