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Giving a chance to persons with rare diseases



Fourteen-year-old identical twins John Paul and Peter John Parco and their younger brother Vincent, 13, share something rare.

Standing at less than 3 feet despite their ages, with slurred and hoarse speech, thick lips, fisted hands and ears slowly going deaf, the Parco brothers all have Hunter syndrome (Mucopolysaccharidosis Type II), a degenerative genetic disorder that strikes a person's physical features and mental faculties.

The inherited, often life-threatening disorder is so rare that only 28 people in the country have been diagnosed with Hunter syndrome, according to 2010 data of the University of the Philippines-Manila Institute of Human Genetics. Hunter syndrome is called an "orphan" disease, which is defined as a group of diseases that affect only one in 20,000 people.

Treatment for people living with orphan diseases like the Parco brothers is available but is often expensive, placing it beyond their reach, said Yonylde Elcano, project coordinator for patient welfare of the nongovernment organization Philippine Society for Orphan Disorders. (PSOD).

Enzyme replacement therapy has been recommended for the Parco brothers, but would cost each child P1.2 million per year, or a total of P3.6 million, a sum their mother Angie cannot afford. And since the effects of Hunter syndrome's vary from person to person, the duration of treatment required by the Parco brothers cannot be determined.

The family's sole breadwinner (her husband left them years ago), Angie's P10,000 monthly income isn't even enough to get her sons into a physical therapy program that can help condition their bodies. Instead, she makes the boys dance at home in the hope of slowing degeneration.

"It's really time to step up (assistance to those with rare diseases)," said Elcano, citing similarly situated families.

Founded in 2006 by doctors and families of individuals with rare diseases, the nonprofit PSOD assists persons with Hunter syndrome like the Parco brothers, maple syrup urine disease (the body is unable to process amino acids properly and emits a smell akin to maple syrup's when urinating), Pompe disease (a body sugar called glycogen builds up in certain organs and muscles, causing impairment) and Gaucher disease (a substance in the body called glucocerebroside excessively builds up, causing spleen or liver enlargement and even severe brain damage), among others. More than 200 people with rare disorders, both young and old, are registered with the organization.

It is not only the sick individual that is affected by the disease but his or her family as well, said Elcano.

"The first question of parents when they learn their children have a rare disease is, 'Is there another disease like this in the Philippines?'" she said. "(W)hen they learn that they are not alone, they find comfort."

Although it occasionally organizes fundraisers and solicits money to assist people with rare disorders registered with it, PSOD focuses on soliciting services and vital equipment such as strollers, wheelchairs and breathing machines. "We're working on partnership," said Elcano.

PSOD also conducts community awareness campaigns, seminar-workshops for taking care of people with orphan diseases, as well as seminars on how to handle grief brought about by the diseases.

The organization also encourages those with rare diseases to showcase their talents to boost their confidence. It has gotten the Parco brothers to dance in its programs and events, so they would feel good about themselves.

"Look at their inferiority complex. They already have rare diseases yet people are still telling them that they cannot (achieve something)," said Elcano. "That's why what we're trying to do is to magnify their abilities and telling them they can do more and they still have hope."

Given the costly treatments, Elcano called for greater financial support and services from the government. PSOD is also campaigning for the passage of a law that will address the needs of individuals living with rare disorders.

Sen. Edgardo Angara has re-filed in the 15the Congress the proposed Rare Diseases Act of the Philippines (Senate Bill 2042), which seeks to create an Office of Rare Diseases in the Department of Health, encourage research and development on rare diseases, and provide incentives for the manufacture or importation of healthcare products for their use. A similar bill (House Bill 392) has been in the House of Representatives by his son Rep. Juan Edgardo Angara.

Sen. Manuel "Lito" Lapid has also filed Senate Bill 1032, the proposed Orphan Diseases Act of 2010, seeking to set aside funds for a "holistic research and development program" or orphan or rare diseases.

Elcano said the proposed Office of Rare Diseases would pave the way for early testing of couples, including studying their genetic history, to know the possibility of their children having rare disorders. The office could also work for more vigilant screening practices by hospitals to check newborns for signs of rare disorders, so these can be immediately slowed down or possibly be rectified. It could also provide counselling for affected individuals and their families.

Elcano said it is urgent to get help for people with rare disorders. In the case of the Parco brothers, the life expectancy for those with untreated Hunter Syndrome is two decades.

"They're 14 (and 13) already. That's why we're really clamoring for help," said Elcano. "If the government will support us before they're 20, they could survive and could have a meaningful and productive life."

She added, "At the end of the day it's about giving a chance."

(VERA Files is put out by senior journalists taking a deeper look at current issues. VERA is Latin for true.)


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