We witnessed celebrities, personalities and netizens doing the Ice Bucket Challenge to generate attention encourage donations for the research of Amyotrophic Lateral Sclerosis or ALS. Some donated to other organizations while participants in the UK supported the Motor Neurone Disease Association.
Medical condition such as the ALS is considered as a rare disease.
Here are a few facts about rare diseases:
- There are about 6,000 to 8,000 rare diseases and three-fourths of these affect children.
- According to the World Health Organization, a rare disease has a prevalence of 0.65 to 1%.
- A third of those afflicted with rare diseases die before reaching age 5.
- Most of these rare diseases have genetic origins while the rest are results of bacterial or viral infections, allergies and environmental causes.
- Rare diseases are often degenerative, chronic, progressive and life-threatening.
- In the Philippines, when one patient in every 20,000 is affected by a certain medical condition, this is considered rare.
- Patients afflicted with rare diseases often have their quality of life reduced to taking medications, check-ups and suffering from pain. They are often dependent on other people to attend to their basic needs. They also need lifelong medical care, food supplements, medications and multidisciplinary therapies to alleviate the symptoms and effects of the disease.
- The family dynamics of the person with a rare disease is also affected due to intensive care that the patient needs to have the condition improved and to prolong lifespan.
In the Philippines, an awareness campaign called Rare Disease Day was established in 2010. This campaign includes forums, press conferences and workshops to let people know about the advocacy on rare diseases.
The Philippine Society for Orphan Disorders or PSOD is a group of medical professionals from the Institute of Human Genetics (IHG) of the National Institutes of Health of the University of the Philippines, Manila, who, since 1991, have been attending to patients with rare diseases.
Some of the rare diseases that patients in the Philippines have been diagnosed with are the following:
- Blue Rubber Bleb Nevus Syndrome – a rare disease that has discrete venous malformations of varying size and appearance on the skin, within the gastrointestinal tract and in other organs. Patients with this condition suffer anaemia due to gastrointestinal bleeding.
- Rett Syndrome-a rare form of autism and a genetic neurodevelopmental disorder characterized by normal development followed by loss of purposeful use of the hands, slowed brain and head growth, mental retardation and seizures. In the Philippines, there are
8, 624 cases (based on extrapolated statistics and not actual data). October is Rett Syndrome Awareness Month.
- Muscular Dystrophy – a group of genetic diseases in which muscle fibers are unusually susceptible to damage which become progressively weaker. Most people afflicted with MD need wheelchair and other mobility help like crutches, walkers and braces to help them move about as the disease progresses. September 7 was World Duchenne Awareness Day.
- Maple Syrup Urine Disease or MSUD is named as such because this inborn error of metabolism’s symptom has the urine of untreated babies smell like sweet maple syrup. It is a rare disease where enzymes do not work properly because there are problems breaking down certain amino acids found in protein. In the Philippines, where prevalence is a quite high, this condition is usually not part of the new-born screening process. The Department of Health’s Advisory Committee on Newborn Screening has approved the implementation of the expanded newborn screening program in January 2014 and there are six disorders in the screening process namely: congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), phenylketonuria (PKU), glucose-6- phosphate dehydrogenase (G6PD) deficiency, galactosemia (GAL) and maple syrup urine disease.
- Biliary Atresiausually happens to first born baby girls. This is a rare disease which occurs in one in every 15,000 births wherein the liver’s bile ducts are inflammed or absent. If there are bile ducts present, these are unable to remove bile out of the liver. Bile builds can poison the liver. In the Philippines, Lift-B.A.B.I.E.S. Foundation is a support group committed to help families with children afflicted with biliary atresia.
- Phenylketonuria- a birth defect that causes an amino acid called phenylalanine to build up in the body. Phenylketonuria is caused by a mutation in a gene that helps create the enzyme needed to break down phenylalanine. When there is too much of phenylalanine, varying symptoms like mental retardation, seizures, fair skin/blue eyes, microcephaly, skin rashes like eczema and stunted growth, among other symptoms, are manifested. This is one of the health conditions included in the newborn screening process.
Bills related to rare diseases are filed in the House of Representatives and Senate. Rare Pediatric Diseases Bill proposes a comprehensive policy to address the needs of patients with rare diseases and the creation of the Office of Rare Diseases attached to the DOH. Another measure proposes the registry of rare diseases that has been identified and with diagnosed patients.
Patients diagnosed with rare diseases, also known as orphan diseases, number around 300 million worldwide, according to The Global Genes Project. Early detection of the rare diseases is very important, hence the inclusion of these conditions in the newborn screening process. Proper intervention and support for any rare disease that has been detected as early as possible leads to reduction of morbidity and mortality.
In the Philippines, patients afflicted with rare diseases usually seek medical treatments at the Philippine Children’s Medical Center (PCMC) and Philippine General Hospital. There are foundations, advocacy groups and corporations that support their various needs including medication, hospitalization, therapy among others.
For those of us who happen to see patients with rare diseases in whatever circumstances, let us not just stop and stare. Show compassion by giving them a warm smile and a prayer or two for their healing.