They are called “orphan” diseases, conditions that affect less than 1 in 20,000 Filipinos.
Because they are so rare, they are not as well researched as more known ailments such as cancer, which affects one in every 1,800 Filipinos. And patients who suffer from these chronic, progressive and often life-threatening disorders hardly get any financial support. Worse, over 60 percent of those affected by these rare diseases—which still do not have a cure—are infants or children.
Three of the most common “orphan” metabolic diseases in the Philippines are the Maple Syrup Urine Disease (MSUD), so called because the urine of afflicted children smells like maple syrup, Phenylketonuria (PKU) and Methyl Malonic Aciduria (MMA).
These metabolic diseases basically impair an individual’s ability to break down amino acids, which are present in protein-rich foods such as meat, eggs and milk.
As a result, amino acids and their by-products build up in the body to the point that they become toxic to the brain and other organs. This dangerous accumulation leads to serious medical problems, even death.
One company that is helping bridge the yawning gap between patients and these diseases and cure, as well as support, is milk company Mead Johnson. It was the only company that responded 20 years ago to the call by parents and doctors to explore the possibility of extending help to children stricken with these rare disorders.
Specialized nutrition
A pioneer in the field of specialized nutrition for rare diseases, Mead Johnson has been providing continuous free supply of specially prepared formula to Filipino infants and children who have rare metabolic disorders such as MSUD, PKU and MMA through its partnership with the UP Institute of Human Genetics—the only institution in the country with the specialization to deal with patients with these “orphan” metabolic disorders.
“Our company’s mission is to help nourish children for the best start in life, and we mean all children—including those with special needs,” MJN Philippines president and general manager Paul Richards told the Inquirer.
The milk formula is manufactured in the United States and is designed to provide these children with special dietary needs—most of whom come from poor families—with the nutrition that they require to hopefully have a normal life.
The fact that the milk is brought to the country and given free is a boon to the children and their families considering that a small can costs about P3,000 and is not available in the Philippines.
The nearest supply source of the specially formulated milk is Singapore.
Expensive undertaking
Treating the 42 children currently receiving the milk is indeed an expensive undertaking, but Mead Johnson in the Philippines has committed to support the children and their families by continuing to provide the special formula to them, just as it has done the past 20 years.
Richards said that, aside from providing special milk to the UP-IHG, the company is also supporting the Philippine Society of Orphan Diseases (www.psod.org.ph), which was formed by patients and doctors to increase public awareness of rare disorders, establish a nationwide registry of patients, and mobilize resources for patients’ needs and promote early detection.
According to Richards, early detection is crucial because it is only when the disease is caught early that children with metabolic disorders escape the worst of their effects, giving them a shot at normal intellectual development.
Rare Diseases Act
Experience dictates that newborns who are diagnosed with the disease before they start showing signs of the metabolic disasters, including poor feeding, vomiting, dehydration, weariness, seizures and neurological decline, have a better chance of leading a “normal” life compared with those who are diagnosed after they start manifesting the symptoms.
To help provide a more long-term solution to the problems hounding patients with these metabolic disorders, Mead Johnson is also publicly supporting the passage of the Rare Diseases Act of the Philippines bill, which intends to institutionalize the support system for rare or orphan diseases, and determine ways of funding support, including providing incentives for medical research and aid.