Day 152 At the Roundtable Discussion on Rare Diseases at the Traders Hotel in Roxas Blvd sponsored by the Health Science Sector of the National Academy of Science and Technology. With the Rare Disease advocates: Dr. Carmencita Padilla (NAST Academician, Immediate Past Director of the NIH Institute of Human Genetics, and now Chancellor of UP Manila), Mary Anne Chiong (new Director of NIH-IHG), Cynthia K. Magdaraog (President of the Philippine Society for Orphan Disorders, Inc.) and her son, Juan Magdaraog (afflicted with and surmounted the challenges of having Pompé Disease). Dr. Jaime Montoya, PCHRD Director and himself a NAST Academician was program emcee and moderator. As a Rare Disease advocate myself, I contributed information on Malignant Hyperthermia during the Open Forum. Malignant Hyperthermia is a rare (1:50,000-1:100,000 from mhaus.org) autosomal dominant trait transmitted from parent to offspring. It is a pharmacogenetic disorder triggered by inhalation anesthetics and is uniformly fatal if not given the only known treatment, dantrolene (an orphan drug). The Philippine Society of Anesthesiologists-Southern Tagalog Chapter work and experience on MH is being lauded by MHAUS. Dr. Enrico Evangelista and myself wrote on the Philippine experience in The Communicator, the MHAUS Newsletter (V31 N1 Winter 2013) on Medical Economics of Malignant Hyperthermia in Southeast Asia together with other MH advocates, Dr.Tae W. Kim of Johns Hopkins Hospital, USA; Dr. Neil Pollock of Palmerston North Hospital New Zealand; and Dr. Robyn Gilles, Royal Melbourne Hospital, Australia. We fully support the proposed Act on Rare Diseases...in it, I see a ray of hope that we can push for research on MH in the Philippines especially because we hope to be able to do the Halothane Contracture Test here in the Philippines so we can detect the MH gene carrier among kins of MH patients and perhaps identify SNPs of the ryanodine receptor gene in MH susceptible patients.
Posted on: Thu, 30 Oct 2014 17:33:34 +0000
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