Krusada: Rare Diseases

By Nathalie Blanco, Multimedia Producer, Krusada

Posted at Jan 13 2012 02:18 PM | Updated as of Jan 13 2012 10:18 PM

Anchor: Karen Davila
By Kris Ann Dela Peña

One out of 20,000 newborns who were thought normal during birth develops a certain kind of rare disorder as they grow. Karen Davila crusades to bring awareness to rare diseases and lobby for financial assistance from the government.

"As to diseases, make a habit of two things - to help, or at least, to do no harm." – Hippocrates.

It has never been too easy to cope with diseases as it can cause financial crunch, and physical and emotional predicament both to the ill and his family. With thousands of different diseases that are known to the world, some may only affect some – these diseases are more known as the rare diseases.

A person is considered to have a rare disease or orphan disorder when he has a certain illness that only a small percentage of the population is being affected. These diseases that are unusually seen are caused by genetic defect. Examples of these are Mucopolysaccharidosis (MPS) Type VI, Cornelia de Lange Syndrome (CDLS), and Osteogenesis Imperfecta.

One out of 20,000 newborns who were thought normal during birth develops a certain kind of rare disorder as they grow. According to the Philippine Society for Orphan Disorders (PSOD), an organization that seeks help to support children with uncommon diseases, there are already 26 kinds of reported cases of rare diseases in the Philippines.

In this episode of Krusada, Karen Davila crusades not only to bring awareness but also lobbies for financial assistance to be given to PSOD by the government.

Rare but normal

“Tin-tin” is a six year-old child who was according to her family, unforeseen to bare a different kind of illness as she was given birth. Her mother Jessie described Tin-tin as a normal baby whom they thought was just petite. However, as she grows older, her physical deformities became very noticeable. Tin-tin’s thighs and arms did not grow longer and cannot be bended while her internal organs are also badly affected by her disease.

After years of figuring out what kind of disorder affected Tin-tin’s development, at the age of five, she was diagnosed with MPS Type VI – a disorder that affects one every 600,000 children that is characterized by somatic disorders but not by mental retardation.

Same case was observed with Annika, an eight year-old girl who has CDLS – a congenital syndrome that affects one of 10,000 live births. It is distinguished not only on the physical appearance and systems, but also on intellectual ability.

Annika Suarez, eight years old, with Cornelia de Lange Syndrome

Annika’s parents, Mr. and Mrs. Suarez, despite the disorder their child has been going through, are still very positive about the situation. In fact, they are taking parts on the dissemination of awareness among people regarding rare diseases through the help of PSOD.

“A child is a blessing from the Lord. So, just enjoy, love her and care her (sic)”, said Mr. Suarez.

Both Tin-tin and Annika are children with rare diseases trying to fit in to the society they belong to. Tin-tin sees to it that she regularly goes to school despite her physical impairments while Annika’s family tries to treat her as a normal eight year-old girl in spite of her inabilities.

On the other hand, Rap-rap, a 13 year-old boy, suffers from Osteogenesis Imperfecta or more known as Brittle Bone Disease. This disease is characterized by weak and very fragile bones.

When Rap-rap’s mother Teresita Alunan gave him birth, he already has a bone fracture. It was then immediately found out that the child has a disorder.

Rafael Alunan, 13 years old, with osteogenesis perfecta

Every member of Rap-rap’s family is very careful with dealing with him because any wrong move may lead to his bones crack. After five years of sending him to school, he eventually stopped because his condition is getting more complicated.

His parents seek for PSOD’s help in giving him a home school– they still want to give their son a normal education a normal teenager gets. However, they admit that they cannot sustain Rap-rap’s medication that costs 4,000 pesos a month.

According to PSOD, six to seven out of 100,000 children are born with Osteogenesis Imperfecta.

Sustaining life

PSOD’s Dra. Cynthia Magdaraog said that they are asking for the government’s support in giving financial assistance to the children with rare diseases.

“We rely only on donations. The expenses on giving medicines to every child are way beyond our financial capacity. This is what we are trying to tell the Department of Health – if we work together, we can possibly allot more budget for the kids”, said Magdaraog in Filipino.

December 15, 2011