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Rare aware, What you need to know about Rare Disease

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Tuesday, November 14, 2017

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Peter John, John Paul, and Vicente Parco Jr. look like they are triplets. But in reality, only Peter John and John Paul are twins, and Vicente Jr is their little brother.

Standing at about three feet tall, the twins are already 20 and Vicente, 19. All three of them have the rare disease called Hunter Syndrome.

“They were all born normal. But as they grew up, I could see abnormal changes in their body. They couldn’t walk properly and their legs were curved. That’s when I decided to bring them to a doctor, and after a lot of tests, we found out that they have the rare disease called Hunter Syndrome,” says their mother Angie Parco.

Hunter syndrome or mucopolysaccharidoses II (MPSs) is a very rare genetic disordered caused by a missing or malfunctioning enzyme. Because of the shortage of enzyme, molecules build up, causing damage to the appearance of a person, mental development, organ malfunction, and physical disabilities.

Symptoms of this disease often begin around age two to four. Signs of it include an enlarged head, thickening of lips, a broad nose and flared nostrils, protruding tongue, hoarse voice, abnormal bone size, bloated abdomen, joint stiffness, stunted growth, and delayed development.

As of now, there is no cure yet for the disease. The Parco brothers, according to Angie, are now wearing hearing aids because their hearing is already affected, and they have regular checkups at the Philippine General Hospital (PGH) for their maintenance medicine that they still have to buy abroad.

The Department of Health, in partnership with PGH, UP National Institute of Health, and the Philippine Society of Orphan Disorders (PSOD), continues to raise awareness for Hunter's Syndrome and other rare diseases through the Care for Rare Awareness campaign. According to the World Health Organization, a disease is considered rare when it affects one person out of 2,000 or fewer. In the Philippines, rare diseases affect one in 20,000 children.

The month-long Care for Rare Awareness campaign that runs until Nov. 16 at the PGH-Out Patient Department provides various information for these diseases. An information table is set up manned by health volunteers who would be giving out informational materials about Lysosomal Storage Disorders like Pompe Disease, MPS I and II, Gaucher Disease, and Fabry Disease. Patients can approach these volunteers to inquire about the disease as well.

The lack of understanding of these disorders makes these children at risk of serious consequences due to delay in diagnosis and, sometimes, incorrect diagnosis. These lives are constantly in danger because, even if their conditions are diagnosed, their families cannot afford the high cost of treatment. For the few who may have the means, optimum care is still elusive due to scarcity of available medications and health care facilities equipped to handle these individuals with special needs.

Due to lack of quality healthcare, the victims of rare diseases and their families experience a high level of pain and suffering. To date, PSOD has a registry of 319 individuals with rare disease representing 63 rare disorders. While there are positive advancements throughout Southeast Asia, barriers remain and health systems differ widely across borders.

This PGH Care for Rare campaign aims to bring national attention and awareness on the impacts of rare diseases among people and the ways by which families and communities can help realize the spirit and intention of RA No. 10747 or the Rare Disease Law. The Philippines has achieved a very important milestone when the Rare Disease Act was passed into law which seeks to improve the access of the patients with rare diseases to comprehensive medical care and to timely health information that would help them cope with their condition.

"Rare diseases do not only affect patients but also their families. Thus the presence of a Rare Disease law somehow alleviates the position of which families with a rare disease patient are in. As of the moment, the Implementing Rules and Regulations for the RD law are still being finished and parents of RD patients like me are looking forward to its implementation because that will ensure that budget will be allocated to RD programs. This law gives us hope in making sure that people with rare diseases are given a chance at life," says Cynthia Magdaraog, president of the Philippine Society for Orphan Disorders and parent of a Pome disease patient.

According to the Philippine Society for Orphan Disorders, Inc., there are about 7,000+ rare diseases known worldwide, and only five percent has US FDA-approved treatments. Eighty percent of these rare diseases are caused by faulty genes that anyone can be carrying without their knowledge, 75 percent affect children, and 30 percent die before the age of five.

Those afflicted with rare disease or orphan disorders suffer from social abandonment due to lack of existing network of support to aid them. The nature of rare disease is hardly known as well due to lack of information; and only few medical professionals in the country are aware of these disorders and how to diagnose and address these conditions.

Medical help is also elusive under the conditions of the country's health priorities. With this information campaign, both the private and government organizations working behind it are hoping to address the need for effective identification and diagnosis of rare diseases among our country's population.

Public awareness plays a very important part in comprehensive healthcare; and a comprehensive health care respects everyone's right to life. The campaign for National Rare Disease Awareness is shared responsibility and there is a great need to work together for this to be successful.

Contact
Address
24-D Goldland Tower
8 Eisenhower Street
Metro Manila, Philippines
Phone: (632) 725-6519
Email Address: info@psod.org.ph

 

Source: Philippine Society for Orphan Disorders
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3.5 from 2 votes
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