Sunday, July 11, 2010

Finding ‘Care for Rare’ Orphan Diseases

HAVE you heard of Pompe’s disease? What about MPS Hunter syndrome, maple syrup urine disorder (MSUD), Gaucher disease and adrenoleukodystrophy (ALD)?

Even if you shed tears while watching the movie “Lorenzo’s Oil,” you probably would not be able to recall or pronounce the name of the disease – it was ALD or adrenoleukodystrophy –around which the plot revolved.
The recent movie “Extraordinary Measures” (starring Harrison Ford as the eccentric doctor-scientist and Brendan Fraser as the father of two ailing children) may not have been as riveting as “Lorenzo’s Oil,” but it 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.
Both based on true-to-life stories, the movies showed that with the combined efforts, persistence and the support of parents, doctors, scientists, research financiers and society at large, there is hope for those with rare or so-called “orphan” diseases.

Here, 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 individuals with rare disorders.

There have been many breakthroughs since its founding in 2006. PSOD has become a support group for patients with rare disorders and their families. It has established a network of patients, families, doctors and support groups in different parts of the world. It was able to push for a bill on rare diseases in both the Senate and the House of Representatives. And more importantly, many patients have found access to treatment and are now enjoying a better quality of life.

This is not to say PSOD has it all. There is much that needs to be done.

Lending a face and voice to PSOD is Juan Benedicto “Dickoy” Magdaraog, who has been bravely battling a rare condition called 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 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, although his fingers can move and do a lot of work.

Now 32, Dickoy has not allowed Pompe’s to close the doors on his dreams. He is a wiz at computers. He has a degree in Industrial Design from De La Salle University, had a girl friend at one time and is gainfully employed. He even heads his own web design company and has been featured several times on TV and in print 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 vibrant and active until the disease took over. “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. Then doctors thought it was muscular dystrophy.” Dickoy’s condition deteriorated until he became wheelchair-bound.

His parents, Cynthia and Victor, younger brother Steve, caregivers, friends and classmates pushed the limits to make Dickoy’s life as normal as possible. A major breakthrough – a miracle they call it – came when the family went to the US and consulted a specialist. The good news: it was not muscular dystrophy. The bad news: it was Pompe’s disease. (See sidebar)

The other good news for Dickoy was a treatment called enzyme replacement therapy. (The movie “Extraordinary Measures” shows how this was discovered.) And it was super expensive. It would not cure Dickoy but it would prevent his condition from deteriorating further and keep the devastating effects of the disease at bay until a more potent treatment can be discovered and reverse his condition.

Twice a month Dickoy undergoes enzyme replacement therapy at the Philippine General Hospital. “Bringing Dickoy to PGH is a major production,” Cynthia, Dickoy’s mother, said 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.

The Magdaraogs are a story in themselves. They have converted a part of their home in Greenhills into an office for PSOD. It is their way of giving back and helping those with orphan disorders. Cynthia serves as PSOD president. The other officers are Dr. Carmencita D. Padilla (PSOD founding chair, pediatrician, geneticist) , Elpidio M. Paras (vice president, and grandparent of a child with maple syrup urine disease) and Dr. Sylvia C. Estrada (pediatric endocrinologist and metabolic physician for newborn screening follow-up program).

While many Filipinos continue to be plagued by common diseases related to poverty like tuberculosis, dysentery and malaria that should have been rendered uncommon by modern medicine, there are individuals – children mostly – who battle very rare diseases that most people have never heard of. These diseases are difficult and expensive to treat, and many patients and their families – until PSOD came along – have been left on their own to find treatment to arrest the diseases’ progress.

These expensive treatments, if available, allow patients to live relatively regular lives. And yes, there are a good number of happy stories.
On most days, one will find Dr. Estrada seeing young patients at the pediatric section of PGH. John, 9 months old, has PKU (Phenylketonuria). Mark, 8 months, has CPS deficiency, Matt, 1 and ½ years old, has MMA. Delle, 4 months, has non-classical galactosemia. They all have orphan disorders that require expensive treatment and constant monitoring. They also need medicines and special baby formula (for example, PKU milk, lactose-free milk, MSUD milk, prophree milk, etc.) that are beyond their families’ means. (Mead Johnson provides their monthly supply for free.)

High on PSOD’s agenda is a Rare Diseases Act that would establish a system to help ensure early diagnosis and treatment of rare or orphan diseases. PSOD defines a rare disease as “any health condition resulting from genetic defects and afflicts no more than 1 of 20,000 individuals in the country.” PSOD notes that there is little interest in these disorders among research institutions because of the small number affected. Drug companies are not inclined to develop costly medicines for so few.

A Rare Diseases Act would give teeth to the constitutional provision on one’s right to health care. It will support public education and information on rare diseases, training, research and resource generation. Senator Edgardo Angara filed the Rare Disorder bill (SB 3087) last year. So did Representative Arthur Pingoy (HB 6937). PSOD is campaigning for half a million signatures to push the bill.

And so Dickoy continues to hope and work hard. “My condition made me understand suffering,” he said. “It taught me compassion, patience and the value of hard work. Going to school was not easy, you know. But if you want people to help you, you have to help yourself.”

Dickoy himself will attest to the marked improvement of his condition because of enzyme infusions. He said: “I am able to breathe on my own for a few minutes. I have more energy and I am able to go out and socialize. The treatment was life-changing.”

He owes this to the concerted efforts of many people of science and of faith. •

Philippine Society for Orphan Disorder (PSOD) contact numbers: 7256519, +639184350820. Email:

Side bar:  
Meet some deadly “orphans”

1. Pompe’s disease is a rare neuromuscular genetic disorder that manifests in those who inherit a defective gene from their parents. There is a defect in the gene that is responsible for making an enzyme called acid alpha-glucosidase (GAA), which is either missing or in short supply. Patients suffer progressive and debilitating muscular weakness that progresses into physical disability and dependence on a breathing support system. With the heart and lungs weakening progressively, patients could succumb to heart and/or pulmonary failure. The ratio of occurrence in the population is one in 40,000.

2. MPS Hunter syndrome. Also known as mucopolysaccharidosis II (MPS II), it is a rare inborn error of metabolism characterized by deficiency of an enzyme known as iduronate sulfatase. This enzyme breaks down specific long sugar molecules in the body called glycosaminogycans found in body parts bone, joints, valves.

3. Apert syndrome (craniosynostisis syndrome) is a genetic defect that falls under the broad classification of craniofacial/limb anomalies. Can be inherited from a parent with Apert or may be a fresh mutation. It is characterized by malformations of the skull, midface, hands and feet. It occurs in 1 per 160,000 to 200,000 live births.

4. Adrenoleukodystrophy (ALD) is a rare genetic disorder characterized by the breakdown or lessening of the myelin sheath surrounding nerve cells in the brain and progressive dysfunction of the adrenal gland.

5. Phenylketonuria (PKU) is a rare inherited metabolic disease characterized by high levels of the amino acid phenylalanine which can cause mental retardation, seizures and movement disorders.

6. Maple syrup urine disorder (MSUD) is a metabolic disease that causes branched chain amino acids to accumulate in the body, creating a toxic effect that can lead to brain swelling, neurological damage and death. The name is derived from the sweet smell of the patient’s urine.

7. Gaucher disease is an inherited illness caused by a mutation in the glucocerebrosidase gene. Accumulation of glucocerebrocides in the brain, liver, spleen, skeleton and other body parts leads to organ dysfunction.

(Source: PSOD)