Department of Science and Technology – National Academy of Science and Technology (DOST-NAST) academician Carmencita D. Padilla in an effort to help address the gaps in the treatment and services for rare disease in the Philippines plans to push for the evolution of Genetic Counsellors in the plantilla of hospitals.
Padilla also a UP Manila College of Medicine professor made the statement in reply to a question on how can the Philippines increase the number of geneticists in an open forum during the round table discussion, since there are only nine geneticists in the country, seven in Luzon, one each in Visayas and Mindanao.
“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 condition alone”, she stressed.
Most rare diseases are genetic and involve fnctional and physical birth defects.
Accoring to Dr. Mary Anne D. Chiong of UP Manila’s National Institutes of Health, there is no existing effective cure for theses disorders.
Among the 7,000 identified rare diseases are Maple Syrup Urine Disease in which a patient’s urine smells like maple syrup, Mucopolysaccharidosis, Gaucher Disease, Galactosemia, Phenylketonuria, Hunter Syndrome, and Pompe Disease.
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.
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 attune 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 Scientists 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.
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. Venilde and now works as a web Designer. (PsciJourn MegaManila)