PHL, 62 other countries mark Rare Disease Day on Feb. 29

Sixty-three countries, including the Philippines, celebrated on Leap Day, February 29, "Rare Disease Day" to focus on diseases or disorders that affect fewer than one in 200,000 people.    In the Philippines, Rare Diseases Day is celebrated every fourth week of February as stated in Presidential Proclamation No. 1989 in 2010.  In a news release of the Philippine Information Agency (PIA), about 7,000 rare diseases have been identified worldwide. These are mostly caused by genetic defects and environmental exposure during pregnancy or later in life, the PIA said. In the Philippines, there are over 200 Filipinos, mostly children, afflicted with over 20 rare disorders, it added.   According to the non-profit organization Philippine Society for Orphan Disorders (PSOD), “very little attention is spared by government, health organizations and the public at large” on rare diseases, also known as "orphan diseases."    Some examples of these disorders are:  

• Maple syrup urine disease — can only be found in one per 280,000 persons;  the patient's body cannot break down proteins and his or her urine smells like maple syrup; the United States National Library of Medicine's Medline Plus website said it can lead to neurological damage, coma, and even death;

• Gaucher disease — can be found in one per 100,000 people; Medline Plus said it is a rare, inherited disorder that causes the spleen, liver, lungs, bones and sometimes, brain to malfunction, and

• Pompe disease — can be found in one person per 40,000 people; the US National Institute of Neurological Disorders and Stroke said it is an inherited and often fatal disorder that disables the heart and skeletal muscles.  

The PIA said the list of rare diseases includes:

• 6 Pyruvoltetrahydropterin Synthase Deficiency
• Adrenoleukodystrophy
• Autoimmune Chronic Active Hepatitis
• Galactosemia
• Gaucher Disease
• Hemophagocytic Lymphohystiocytosis
• Heperphenylalanemia
• Heterozygous Cystenuria
• Holocarboxylase synthase deficiency
• Homocystenuria
• Homozygous Cystenouria
• Lowe Syndrome
• LSD – Multiple Sulfatase Deficiency
• Maple Syrup Urine Disorder
• Methyl Malonic Aciduria
• Moebius Syndrome
• Mucolipidosis
• Mucopolysaccharidosis
• Niemann pick
• Osteogenesis Imperfecta
• Phenylketonuria
• Pompe Disease
• Respiratory Chain Complex/Deficiency
• Tay Sach’s Disease
• Tyrosinemia
• Urea Cycle Defects

  On its video, PSOD said: “These disorders have yet to be fully grasped and understood by medical science... [Those] afflicted with these condition often times subjected to even more serious health risks and consequences due to delayed and incorrect diagnostics."   Although some patients were diagnosed early, they had to confront the “high cost treatment and medication [that is] well beyond the reach of most Filipino families.”   PSOD also said the “scarcity of specialists and facilities” leaves patients as “social and medical orphans.”   The non-profit private organization claimed that the Philippines struggles “with poor reporting system, diagnostic delay and lack of a support system, leaving the patients desperate fighting for their lives alone and in the dark.” In a statement posted on the PSOD website, Philippine Health Secretary Enrique Ona hoped that this year’s observance of Rare Diseases Day would be "the inspiration for all of us to continue working together to improve the health of Filipino patients with these diseases.” Meanwhile, Alicia Bala, Department of Social Welfare and Development undersecretary, also in a statement posted on the PSOD website said the celebration of Rare Diseases Day is an "auspicious occasion where we should unify and strengthen our efforts in ensuring that the rights of persons suffering from rare diseases." - VVP, GMA News