Academician Carmencita D. Padilla said there should be an item for a genetics counsellor in the plantilla of secondary and tertiary hospitals in the country to help address the gaps in the treatment and services for rare disease patients in the Philippines.

The UP Manila College of Medicine professor made this statement during a Roundtable Discussion on Rare Diseases organized by the Department of Science and Technology’s National Academy of Science and Technology (DOST-NAST) held at Traders Hotel recently. Padilla is a DOST-NAST Academician.

According to Padilla, there are only nine geneticists in the country, with one each in Visayas and Mindanao. While she acknowledges the need to increase the number of geneticists, Padilla believes that there is not much demand for geneticists. What the country needs are more genetic counsellors, she said.

“We don’t have enough geneticists and we don’t need a geneticist in every hospital. At least, a genetics counsellor can take care of counselling the patient and his family. The counsellor is not limited to genetic conditions alone,” she stated.

Most rare diseases are genetic and involve functional and physical birth defects. According to Dr. Mary Anne D. Chiong of UP Manila’s National Institutes of Health, there is no existing effective cure for these disorders.

Among the 7,000 identified rare diseases include Maple Syrup Urine Disease --in which a patient’s urine smells like maple syrup, mucopolysaccharidosis, Gaucher Disease, galactosemia, Phenylketonuria, Hunter Syndrome, and Pompe Disease.

These illnesses are chronic, progressive, degenerative, and most of the time disabling. They also cause heavy social, emotional, and financial burden on patients and their families. What further compounds this problem are the current challenges in treatment and research. Among these challenges are lack of access to treatment, frequent misdiagnosis, and lack of research. In the Philippines, the small number of geneticists worsens the problem.

“I cannot do it on my own,” Padilla admitted. “But I can put it in place, with the help of the Department of Health (DOH) who will provide the jobs and DOST who will provide the scholarships.”

In the same discussion, Dr. Anthony P. Calibo of DOH’s Family Health Office said that “we have an antiquated health resource plan.” He explained that many hospitals in the country are not attuned to current requirements. “There is a disconnect. We are now looking at emerging diseases. There are so many vacant positions in hospitals.” Calibo stated.

Expressing NAST’s stand in the discussion, National Scientist Mercedes B. Concepcion stressed on the importance of family planning training. “What we need is the human resource and the aspect of capability building. Although we need to see genetic counsellors all over the country, there are not enough of them. In the very early years, we already realized that the medical professionals themselves did not have training in family planning,” she disclosed.

According to the World Health Organization, rare diseases, also called orphan disorders, affect 6.5-10 people out of 10,000. In the Philippines, one in every 20,000 have a rare disease. In some families, more than one member is affected.

The silver lining is that some rare disorders may be treated, said Padilla. She emphasized that if proper treatment is given early, a patient may become a productive member of society like 37-year-old Juan Benedicto Magdaraog. Diagnosed with Pompe Disease, a rare inherited neuromuscular disorder causing progressive muscle weakness, Magdaraog has been wheelchair bound since age 17. However, he eventually earned a degree in Industrial Design from De La Salle-College of St. Benilde and now works as a web designer. (S&T Media Service) #genetics #genetics counselling #dostPH #nastPH #rarediseases

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Academician and UP Manila College of Medicine Professor Dr. Carmencita D. Padilla (top) during her talk at the Roundtable Discussion on Rare Diseases organized by the Department of Science and Technology’s National Academy of Science and Technology (DOST-NAST)held at Traders Hotel last Oct. 30, 2014. Dr. Padilla stated her plan of including a genetics counsellor in the plantilla of secondary and tertiary hospitals in the country to better address the challenges faced by patients of rare diseases like Juan Benedicto Magdaraog (bottom photos). Diagnosed with Pompe Disease, an inherited neuromuscular disorder, Magdaraog has been on a wheelchair since age 17. Magdaraog shared his life as a Pompe Disease patient in the Philippines during the DOST-NAST discussion. (S&T Media Service)

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