Rare genetic disorder afflicts 1 in 20,000 Pinoys

Doctors, parents and other concerned individuals yesterday formed a group to collectively fight a rare metabolic disorder that affects one in every 20,000 Filipinos.

The group, called the Philippine Society for Orphan Disorders Inc. (PSOD), is hoping to raise public awareness about the metabolic disorder, which they said was a low priority of the government, health organizations and society in general.

So far, 22 types of "inborn errors of metabolism" have already been documented in the Philippines, resulting in muscular disorders and affecting speech, hearing, vision and brain functioning.

PSOD chairwoman Dr. Carmencita Padilla noted that babies born with the disorder usually appear healthy and normal, only to develop the disorder later in life.

The metabolic disorder has long existed in the Philippines but lack of understanding about this condition places affected children at greater risk of serious complications.

Padilla added that afflicted children are oftentimes diagnosed late or given an incorrect diagnosis.

And those who are fortunate to be diagnosed promptly face the challenge of finding a specialist or a facility that is familiar with the condition or have the means to afford the cost of treatment.

The 22 "inborn errors of metabolism" include Maple Syrup Urine Disease (MSUD), San Flippo Syndrome, Hurler’s Syndrome, Morquio Syndrome, X-linked Adrenoleukodystrophy, Methylmalonyl CoA Mutase Deficiency, Gaucher’s Disease, Hunter’s Syndrome, Carbamoyl Phosphate Synthetase and Pompe’s Disease.

The disorder can affect one’s muscular function and can cause sleep disorder; loss of speech; dementia; hyperactivity; joint stiffness; growth delays; dwarfism; thickening of lips, tongue and nostrils; coarsening of facial features; hearing loss; urinary disorders; weakness in the legs; mental retardation; and clouding of the cornea, among other ailments.

Padilla said since the condition is rare, pharmaceutical companies take for granted developing or marketing medicines for this disorder because such research is not lucrative.

Because of this, people with the disorder are considered social "orphans" while the products used to treat them are referred to as "orphan drugs."