Help gets a little less rare

By the time Anicha na Nongkai discovered that her first child, two-year-old Kampanat Boonrod, had a rare condition known as spinal muscular atrophy Type 2, it was already too late to do anything to safeguard her other children.
While her second child Playkam was not afflicted, her third child, Piyapat, suffers from the same genetic condition.
Kampanat is now 19, Playkam 16 and Piyapat 14. 
Spinal muscular atrophy Type 2 is one of 7,000 rare known disease that cause mutations in the genes responsible for a protein crucial to the normal function of motor neurons, the nerve cells that control muscle movement. 
The condition characteristically involves progressive muscle weakness, starting between six and 12 months of age. Afflicted children can sit without support but need help standing and walking. 
Kampanat relies on a respiratory machine to get him safely through a night’s sleep – because sometimes he stops breathing while sleeping. The government doesn’t cover or subsidise medical treatment for rare diseases. It’s been a tough haul for single mum Anicha, but she still finds cause to be grateful.“I’m lucky the doctor told me all about it early on so I could prepare,” she says. “The quicker parents get everything clear in their minds, the better for their children. 
“I know my children might not live long lives, but we’re realistic about it and we spend our time wisely and happily. When my oldest boy finished primary school, he discovered he had a passion for Go, the board game, and he’s won several national championships, which makes me very proud. My daughter is gifted in art and it calms her. She can do a lot of things by herself.” 
Anicha shared her story at a seminar in Bangkok last week on “Health policies and guidelines to help patients with rare disease”. 
Leading the discussion were Dr Pornpetch Panchapiyakul of the Health Ministry’s Office of Public Health, Dr Duangrudee Wattanasirichaigoon, a paediatrics specialist at Mahidol University, and Boon Puttipongthanachote and Preeya Singhnarula, who last month established the Thai Rare Disease Foundation.
Preeya’s three-year-old son Rohan has Maple Syrup Urine Disease, an inherited condition afflicting one out of every 185,000 infants. Rohan was diagnosed with it by the time he was a month old, but little information was available as Preeya searched for help in Thailand, Singapore and India. 
As it turned out, a partial liver transplant from her own mother, whose cells were a match for the baby’s, has removed the threat to Rohan’s life, though he still has many physical |trials ahead. 
The foundation that Preeya has helped establish is intended to offer support for families facing all of the rare diseases, whereas existing groups tend to help with specific conditions, such as haemophilia and lysosomal storage disorder.
There are more than 7,000 rare conditions, Dr Duangrudee explained, whose symptoms vary not just from disease to disease but also from patient to patient dealing with the same disease. 
“In Thailand we’re talking about one in 2,500 citizens – 6 per cent of the population – that’s as big a problem as diabetes,” she said. “Eighty per cent of rare diseases have been identified as genetic in origin and 75 per cent of them affect children. They’re responsible for 35 per cent of all deaths in the first year of life.”
One of the problems in providing effective treatment is that common symptoms can mask the true nature of the disease, leading to misdiagnosis and delay, she said, and yet many of the conditions are progressive, degenerative and life-threatening. 
“On top of that, there are only 18 specialists in Thailand, and we also face problems importing orphan drugs and other treatments.”
The drugs are called “orphan” because the pharmaceutical industry has little interest in developing and marketing products for relatively small groups of people. “The good news,” Duangrudee said, “is that one-third of all new drugs being approved are for rare diseases.
“The biggest challenge for government public healthcare, however, is in establishing networks, covering costs and providing other benefits so that patient can get treatment immediately.”
In terms of getting an accurate diagnosis, newborn screening has proved effective, but it’s a complicated process that not every hospital can offer.
Much of the discussion at the seminar centred on providing a “missing link” to help disparate support organisations and caregivers. Duangrudee pointed out that not every hospital needs an expensive screening machine. 
“If we had one centre for this kind of testing, we could diagnose 40,000 babies a year. We could ensure almost all Thais babies of early prevention and give families social, psychological and financial support. All of the difficulties we’re facing could be overcome with the appropriate policies.” 
“Appropriate” support and better coordination of existing resources will save money and lives, said Professor Tarun Weeramanthri, assistant director general of public health in Western Australia.
The United States enacted the Orphan Drug Act in 1983 and Rare Disease Act in 2002 to address the needs of sufferers, he said. Other countries have similar legislation, including Singapore, Japan, Australia, South Korea, Malaysia and the Philippines. 
Thailand is expected to follow suit next year and will be able to tap into a wealth of international experience in forming policy and revising health |coverage schemes. 
Dr Pornpetch noted that Thai healthcare policies have shifted in the past seven or eight years, away from infective disease to non-infective, guided by the concept “Smart, |sustainable and inclusive”. 
Separately from the foundation, the Thailand Rare Disease Network is a pilot project aimed at developing a service platform, links, shared resources and greater capacity for coping with the situation. 
It plans to establish a registry of rare diseases, a panel of experts and a laboratory centre. Its motto is “Alone we are rare, together we are strong.”

 A NETWORK FOR EVERY NEED
 - Find out more at www.ThaiRDF.com.