Orphan Disorders and Rare Diseases: A Media Briefing

Filipino families with children with rare disorders and the Philippine Society of Orphan Disorders (PSOD) got a big boost yesterday when Senator Edgardo Angara announced his support for “the right to life” by filing SB 3087, the Rare Disorder Act of the Philippines. This bill is intended to promote greater awareness for rare or orphan disorders that affect Filipino children across different socio-economic classes, and determine ways of funding support and providing incentives for medical research and aid.

Dra. Carmencita Padilla, Director, Institute of Human Genetics, National Institutes Health

Today, I had the opportunity to be introduced to the Philippine Society of For Orphan Disorders, Inc. Not many of you might know what an Orphan Disorder is so allow me to introduce you to the organizations and companies involved in developing awareness of this rare disease.

What is a Rare Disorder?

Dra Lulu Bravo, Executive Director of the National Institutes of Health delivers the Opening remarks

Rare disorders, also known as “orphan diseases”, are long-standing, life-threatening, progressive, and disabling diseases with require multi-disciplinary care. They are called “rare” because they only affect 1 in every 20,000 individuals. These diseases include Gaucher disease, maple syrup urine disease, Prader Willi syndrome, Pompe disease, galactosemia, Fabry disease, and MPS I/II. Treatments for “orphan diseases” are available but too expensive for families who have children afflicted with these diseases. Rare disorders are also at the bottom of the priority list of the government and health organizations in terms of funding and public policy development. Pharmaceutical companies do not prioritize creating drugs for orphan diseases because they see very little potential profit out of it.

Cynthia Magdaraog, President of the Philippine Society of Orphan Disorders (PSOD) Presents the PSOD

What is an Orphan Drug?

Because of the rarity of these disorders, development, manufacturing, and marketing of medications and other products intended to treat patients with these conditions are not commercially appealing for pharmaceutical companies. Hence, patients with rare conditions suffer from scarcity, if not a total lack, of drugs/treatment for their conditions, in addition to difficulty in diagnosis, paucity of knowledge of their conditions, and social isolation. As for the drugs available, they are usually marketed at very high prices to cover for manufacturing costs and to compensate for their low marketability. Moreover, patients with rare disorders in non-developed countries have difficulty procuring and importing these medications from abroad. Therefore, patients suffering from rare disorders may be considered as “social orphans”, and drugs and products used to treat them are called “orphan drugs”.

Dra Margarita Jimenez, Medical Director Asia Pacific Group, Genzyme talks on the updates of Available Treatments

What is PSOD, Inc?

The Philippine Society for Orphan Disorders, Inc. will serve as a central network for the advocacy and effective coordination of all viable efforts to sustain a better quality of life for the individuals with orphan or rare disorders in the Philippines. Since the PSOD’s organization, its founding chairman Dra. Carmencita Padilla and concurrently the head of the Institute of Human Genetics (IHG) and its president, Cynthia Madaraog, the mother of a Pompe patient, have worked tirelessly to promote public awareness and funding for patients with rare disorders. PSOD also aims to establish and develop a nationwide registry, promote and support relevant and timely research for a better understanding and treatment, participate in policy formulation, develop and strengthen the relation among involved institutions, develop and provid etraining for health professionals, and mobilize resources and funds for patient’s needs.

Dr. Patrick Granjard, Regional Director Southeast Asia, Genzyme provides the Closing Remarks

For more information on PSOD and how you can help, log on to www.psod.org.ph, or email [email protected], or call 636-4676.

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