thecyberniche:

WHAT IS A RARE DISEASE?

A rare disease, otherwise called an orphan disorder is any health condition resulting from genetic defects that afflicts no more than 1 of every 20,000 individuals in the country. Rare disorders afflict babies in all socioeconomic levels. Besides the little information available about their nature, what makes dealing with rare disorders even harder is that they are long-standing, progressive, disabling and life threatening.

Filipino patients born with rare disorders (diseases) are “orphaned” by society. They suffer from social abandonment because of lack of existing network of support to aid them. Medical help is elusive under the conditions of the country’s health priority. The nature of their illness is hardly known due to lack of information and only a few medical professionals, particularly in the country, are aware of these disorders and know how to diagnose and address these conditions.

Pompe Disease, Gaucher Disease, Methymalonic Acidemia (MMA), Maple Syrup Urine Disease (MSUD), Fabry Disease, Galactosemia, and Mucopolysaccharidosis are some of the sixteen RARE or ORPHAN metabolic disorders, which afflict Filipino children. There are about 165 documented cases of these RARE or ORPHAN disorders in the Philippines.

WHY A RARE DISEASE DAY?

We constantly need to raise awareness on rare diseases among decision makers, health professionals and the general public.

Information is key to improving living conditions for rare disease patients; raising awareness is therefore one of our primary goals.

The International Rare Disease Day was first celebrated on 29 February 2008 and its annual celebration aims to:

• Strengthen the voice of patients as one
• Give hope and information to patients
• Bring stakeholders closer together
• Get equity in access to care treatment 
• Coordinate policy actions in different countries.