Orphan Diseases
HAVE you heard of Pompe’s disease? What about MPS Hunter syndrome, maple syrup urine disorder (MSUD), Gaucher disease and adrenoleukodystrophy (ALD)? I only heard about some of these last week when I attended a talk on Orphan Diseases. Embarrassing as it may be I almost bawled my eyes out and started crying. I was so moved and as a mother of someone who has special needs I understood how hard it was.
The nature of theserare disorders are long standing, life threatening, progressive, and require multidisciplinary care, available therapies and food supplements likewise require life long administration. Until such time further breakthroughs happen (as we are very hopeful it will), without help from private sector, treatment is elusive for the patients due to its prohibitive cost and accessibility.
With increasing number of patients requiring huge amounts of funds, at times not readily available, in June of 2006, The Philippine Society for Orphan Disorders, Inc.a non-stock, non-profit organization was organized to continue the efforts of these doctors to ensure sustainability of medical and financial support of patients with rare disorders.They are at the forefront of the “care for rare” advocacy and coordinates efforts to sustain the quality of life of individuals with rare disorders.
High on PSOD’s agenda is a Rare Diseases Act that would establish a system to help ensure early diagnosis and treatment of rare or orphan diseases. PSOD defines a rare disease as “any health condition resulting from genetic defects and afflicts no more than 1 of 20,000 individuals in the country.” PSOD notes that there is little interest in these disorders among research institutions because of the small number affected. Drug companies are not inclined to develop costly medicines for so few.
A Rare Diseases Act would give teeth to the constitutional provision on one’s right to health care. It will support public education and information on rare diseases, training, research and resource generation. Senator Edgardo Angara filed the Rare Disorder bill (SB 3087) last year. So did Representative Arthur Pingoy (HB 6937). PSOD is campaigning for half a million signatures to push the bill.
Meet some deadly “orphans” according to the Philippine Society for Orphan Disorders.
1. Pompe’s disease is a rare neuromuscular genetic disorder that manifests in those who inherit a defective gene from their parents. There is a defect in the gene that is responsible for making an enzyme called acid alpha-glucosidase (GAA), which is either missing or in short supply. Patients suffer progressive and debilitating muscular weakness that progresses into physical disability and dependence on a breathing support system. With the heart and lungs weakening progressively, patients could succumb to heart and/or pulmonary failure. The ratio of occurrence in the population is one in 40,000.
2. MPS Hunter syndrome. Also known as mucopolysaccharidosis II (MPS II), it is a rare inborn error of metabolism characterized by deficiency of an enzyme known as iduronate sulfatase. This enzyme breaks down specific long sugar molecules in the body called glycosaminogycans found in body parts bone, joints, valves.
3. Apert syndrome (craniosynostisis syndrome) is a genetic defect that falls under the broad classification of craniofacial/limb anomalies. Can be inherited from a parent with Apert or may be a fresh mutation. It is characterized by malformations of the skull, midface, hands and feet. It occurs in 1 per 160,000 to 200,000 live births.
4. Adrenoleukodystrophy (ALD) is a rare genetic disorder characterized by the breakdown or lessening of the myelin sheath surrounding nerve cells in the brain and progressive dysfunction of the adrenal gland.
5. Phenylketonuria (PKU) is a rare inherited metabolic disease characterized by high levels of the amino acid phenylalanine which can cause mental retardation, seizures and movement disorders.
6. Maple syrup urine disorder (MSUD) is a metabolic disease that causes branched chain amino acids to accumulate in the body, creating a toxic effect that can lead to brain swelling, neurological damage and death. The name is derived from the sweet smell of the patient’s urine.
7. Gaucher disease is an inherited illness caused by a mutation in the glucocerebrosidase gene. Accumulation of glucocerebrocides in the brain, liver, spleen, skeleton and other body parts leads to organ dysfunction.
