Quick Facts

  • There are 6,000-8,000 rare diseases
  • 75% of rare diseases affect children
  • 30% of rare disease patients die before the age of 5
  • 80% of rare diseases have identified genetic origins
  • Other rare diseases are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative

“Common” characteristics of rare diseases

  • Rare diseases are often chronic, progressive, degenerative, and life-threatening
  • Rare diseases are disabling: the quality of life of patients is often compromised by the lack or loss of autonomy
  • High level of pain and suffering for the patient and his/her family
  • No existing effective cure for most rare disease

Prevalence

In the Philippines, persons born with and afflicted with rare or orphan disorders are a vulnerable and special population. A disease or disorder is considered rare if it affects 1 in 20,000 individuals or less, as defined by the Institute of Human Genetics of the National Institutes of Health, University of the Philippines Manila. Table 1 shows the definition or rare disease or orphan disorders in other countries:

Definition of Rare Disease in Other Countries

Country Definition of Rare Disease No. of Rare Diseases in Registry
Taiwan Prevalence should be <1 in 10,000  but still needs discussion and verification by a committee 171
South Korea Prevalence of 5 per 10,000 people (disease affecting ≤ 20,000 ) 89
Japan Prevalence rate is <5 in 10,000 (disease affecting < 50,000)
US Prevalence is about 1:1,500 (or disease which affects populations smaller than 200,000 individuals) 1,200
EU Prevalence rate of 1:2,000 1,217
Canada Disease with potential population of 3,300 (Australian standards) to 22,500 (US definition) No data available
Philippines Disease  affecting at most 1 in every 20,000 30

Rare Diseases in the Philippines

Incidences of rare

As of March 2011, the Institute of Human Genetics (IHG) has a record of 244 patients with rare inborn errors of metabolism while the Philippine Society for Orphan Disorders, Inc. (PSOD) has a record of 145 patients with rare disorders (including rare inborn errors of metabolism). Majority of the patients in PSOD’s registry is part of the IHG registry.

Note that the list does not include the number of patients

  • Whose rare diseases remain undetected,
  • Who are seen by private doctors, and
  • Who wish to remain ‘hidden’ because of the stigma of having a child with a rare disease (some families think they are cursed or is receiving bad karma).

Inborn errors of metabolism individually are rare but collectively they are common. In the United States, the collective frequency or incidence of these disorders is estimated at 1 in every 4,000 live births (of term infants who develop symptoms of sepsis without known risk factors, as many as 20% may have an inborn error of metabolism).

As of January 2017, there are 319* patients in the PSOD registry accounting for 63 rare disorders.

*Total includes patients lost to follow-up

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