By Nickky Faustine P. de Guzman
WHAT COMES to mind when you hear of a rare disease called “Maple Syrup Urine”? Some may think that a patient with this condition would have urine with a consistency of a maple syrup. Actually, the patient’s body and urine smell like maple syrup. It is a genetic and metabolic problem, and is the most common rare disease in the Philippines, affecting one in 40,000 people. Maple Syrup Urine is not fatal when detected at an early age (when a baby is still days old), but it is a lifelong condition that needs a special diet with protein intake carefully calculated.
The World Health Organization defines a rare disease as “an often debilitating disease or condition with a prevalence of .65% to 1%.” In the Philippines, a rare disease affects one in 20,000 people, and people with rare diseases need much attention, understanding, and special care. With this, the Department of Health (DoH) has organized the first National Rare Disease Week in line with the passage of the Rare Diseases Act of 2016 or RA 10747. It aims to “improve the access of persons diagnosed to have a rare disease, or persons highly suspected of having a rare disease, to comprehensive medical care and to timely health information to help them cope with their condition.”
The law mandates the Philippine Health Insurance Corp. (PhilHealth) to provide benefit package for patients, medical assistance as provided by the Sin Tax Reform Act of 2012, and incentives for donations intended for research on rare diseases. The patients are also considered as persons with disabilities (PWDs) and will be granted the corresponding benefits and privileges such as priority programs and discounts.
“The Department of Health (DoH), together with the University of the Philippines National Institutes of Health (UP NIH), shall create a system for the identification, management, and registration of persons with rare disease, including an effective referral system, to provide them with better access to support, treatment, and information,” said DoH Secretary Paulyn Jean B. Rosell-Ubial at a press conference on Feb. 22.
While there is no money specifically allotted for rare disease yet, Ms. Ubial said the DoH “would need around P200 billion to provide drugs for indigents” including those with rare diseases.
“Patients afflicted with rare disease often have their quality of life reduced to taking medications, checkups, and suffering from pain. They are often dependent on other people to attend to their basic needs. They also need lifelong medical care, food supplements, medications, and multidisciplinary therapies to alleviate the symptoms and effects of the disease,” she pointed out.
But experts cannot specifically tell if the number of people with these rare diseases has been increasing or not, “Hindi lang sila na-diagnosed in the past (they just were not being diagnosed in the past). Numbers should not be the basis, because we know they exist,” said Dr. Carmencita Padilla, a metabolic specialist and geneticist who practices at Medical City, the Philippine General Hospital, St. Luke’s Medical Center, and the Philippine Children’s Medical Center.
“In the Philippines, we don’t know where they are, so there is a conscious effort to locate them,” she said. “The rest of the world, the statistics are different, rare disease happens in one in 2,000 or one in 10,000. It’s a relative number. We are talking about a couple of hundreds [in the Philippines]. The goal is to catch them sooner to treat them early.”
Newborn Screening (NBS) is one method for detection. The DoH Web site says NBS is aimed at the early detection of infants with genetic, metabolic, and infectious conditions. “It started in 1996 and was integrated into the public health delivery system with the enactment of the Newborn Screening Act of 2004 or RA 9288.” According to Ms. Padilla, NBS has saved 120,000 babies from retardation.
NBS can detect within 24 hours the probability of a rare disease.
But the challenges go beyond detection, and continue with care and rehabilitation. DoH Secretary Ubial said there is a need for medical experts and facilities around the country.
“The state of our public hospitals is dismal: [they are] overcrowded and dilapidated. We lack a lot of resources, [like] 17,500 beds to get to [the ideal ratio of] 1:1,000 bed population. There is big gap. In terms of human resources, there is a bigger gap. In Cuba [for comparison], there is one in 1,000 doctor-patient ratio, but here, it is one in 33,000,” she said.
There is also a lack of specialization among our doctors. For instance, one psychiatrist today treats 250,000 patients, when the ideal ratio is one doctor for 50,000 patients.
“There is a shortage of geneticist, too. It’s hard to attract someone to study genetics,” added Ms. Padilla.
Access to hospitals with facilities is also a challenge. “There is a need to establish screening or a child development center in every regional hospital to improve the capability to detect, screen, and diagnose [rare disease],” said Ms. Ubial.
While the DoH is “trying to establish [these] in the 18 regional hospitals medical centers,” said Ms. Ubial, “we have to develop the regional centers. The facilities are not that fully equipped and we have to make long-term plans. These cannot happen overnight,” she said.