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Orphan diseases’ challenge

/ 02:45 AM September 04, 2014

The ice bucket challenge to raise funds for and awareness of ALS (amyotrophic lateral sclerosis) or Lou Gehrig’s disease is still going on. Celebrities the world over have shown video proof of their daring and generosity. There is criticism, of course, of this so-called marketing scheme, from “selfie-shness” to waste of precious water to plain exhibitionism. But the campaign worked for the good.

Many known Filipinos have accepted the ice bucket challenge, with some getting doused publicly for all to see. With the challenge catching on, some health advocates have taken the opportunity to call attention to other so-called “orphan diseases” besides ALS that strike young and poor children whose parents cry out for help. “Orphan” because these diseases are rare and do not get enough attention.

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I have been privileged to meet and write about these patients, their families, doctors and the support group that continue to create awareness and raise funds that could help these children live normal, productive lives.

The Philippine Society for Orphan Disorders Inc.  (PSOD) is at the forefront of the “care for rare” advocacy and coordinates efforts to sustain the quality of life of those with rare disorders. There have been many breakthroughs since PSOD’s founding in 2006.  It has become a support group and has established a network of patients, families, doctors and support groups in different parts of the world. Many patients have found access to treatment and are now enjoying a better quality of life. But there’s more to be done.

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So, have you heard of Pompe’s disease? What about MPS Hunter syndrome (mucopolysaccharidosis II),  maple syrup urine disorder (MSUD), Gaucher disease, adrenoleukodystrophy (ALD),  Apert syndrome (craniosynostisis syndrome), adrenoleukodystrophy (ALD) and phenylketonuria (PKU)? Lack of space prevents me from describing them in detail here.

Even if you shed tears while watching the movie “Lorenzo’s Oil,” you probably would not recall or pronounce the name of the disease—it was ALD—around which the plot revolved and the cure for which was the object of a couple’s (played by Nick Nolte and Susan Sarandon) research so that their only son would live.

The movie “Extraordinary Measures” (starring Harrison Ford as the eccentric doctor-scientist and Brendan Fraser as the father of two ailing children) also turned out great performances and gave hope that a cure, this time for Pompe’s disease, could be found. In fact they came close with enzyme replacement therapy.

Lending a face and voice to PSOD is Juan Benedicto “Dickoy” Magdaraog who has been bravely battling Pompe’s disease since he was 10 years old. His movements are limited.  He can’t walk and raise his arms. His breathing is aided by a machine almost all hours of the day and night. Although he can move about in a motorized wheelchair, Dickoy needs a caregiver to lift him, adjust his breathing machine, help him eat and attend to his personal needs. Oh, but his fingers can move and do a lot of work.

Now in his mid-30s, Dickoy has not allowed Pompe’s to close the doors on his dreams.  He is a whiz at computers. He has a degree in Industrial Design from De La Salle University and is gainfully employed. He even heads his own Web design company. He’s been featured several times in media because of his talent.

In a way, Dickoy has defied the odds because persons with Pompe’s who do not receive medical intervention are not expected to live beyond a decade or so.

Photos of Dickoy when he was a kid show him so vibrant and active until … “I was about nine when I began having difficulty walking, running and keeping up,” he recalled. “Doctors thought it was because of my flat feet so I was fitted with implants. At first doctors thought it was muscular dystrophy.”  Dickoy’s condition deteriorated until he became wheelchair-bound. Doctors abroad finally gave a diagnosis: Pompe’s disease.

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Dickoy’s parents, Cynthia and Victor, younger brother Steve, caregivers, friends and classmates pushed the limits to make Dickoy’s life as normal as possible.  Twice a month Dickoy undergoes enzyme replacement therapy at the Philippine General Hospital. “Bringing Dickoy to PGH is a big production,” Dickoy’s mother says cheerfully. The enzyme infusion process is done intravenously and takes several hours. The cost of the enzyme is north of P10 million a year but Dickoy gets it free from Genzyme, a bio-tech company.  Genzyme also supports three patients with Gaucher’s disease through enzyme replacement therapy.

Cynthia, PSOD president, hopes that a bill on orphan diseases will be passed this time (with Sen. Pia Cayetano and Rep. Randolph Ting as main sponsors).  A Rare Diseases Act would give teeth to the constitutional provision on the right to health care. It will support public education and information on rare diseases, training, research and resource generation.

Some might say that there are more pressing health concerns that affect many, so why special attention on rare diseases? In universal health care, Cynthia points out, no one should be left behind, the poor especially. “Health is a human right,” Cynthia says.

I have met patients and their parents and doctors who do not give up that one day, these diseases will be “orphans” no more. A different kind of challenge continues to confront us. With fanfare or no fanfare, we must respond.

The world-class “Noli Me Tangere” opera at Resorts World Manila on Sept. 19 will benefit PSOD. Be there!

PSOD’s contact details: Rm 206, Greenhills Mansion, #37 Annapolis St., Greenhills, San Juan, Metro Manila.  Tel. (+632)6618935. Email: [email protected] Website: http://www.psod. org.ph

Send feedback to [email protected] or www.ceresdoyo.com

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TAGS: “Lou Gehrig’s Disease”, adrenoleukodystrophy, ALD, ALS, amyotrophic lateral sclerosis, Apert syndrome, craniosynostisis syndrome, Gaucher disease, Juan Benedicto “Dickoy” Magdaraog, Lorenzo’s Oil, maple syrup urine disorder, MPS Hunter syndrome, MSUD, mucopolysaccharidosis II, Orphan Diseases, phenylketonuria, Philippine Society for Orphan Disorders Inc., PKU, Pompe’s disease, PSOD, Rare Diseases
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