Plan for database on rare lysosomal disease

“To prevent it, we need to know the incidence. This will guide us to effective prevention,” Chulaluck Kuptanon, a genetic paediatrician at the Queen Sirikit National Institute of Child Health, said yesterday. 

“In Asia, Taiwan presents a good model for data collection.”

In Taiwan, which has the highest incidence of Pompe disease – the first disorder to be identified as an LSD in 1963 – all babies are tested and those with Pompe are treated before symptoms show.

As a start, a group of doctors in Thailand who specialise in genetic disorders is compiling information from medical schools. While this will benefit doctors and patients, it is expected to suggest the rate of occurrence of each disease. 

There are about 50 LSDs that result from the dysfunction of lysosomal – a specific organelle in body cells – usually caused by the deficiency of a single enzyme required for the metabolism of lipids, glycoproteins or so-called mucopolysaccharides.

In Thailand, most patients are diagnosed with mucopolysaccharidosis (MPS), Pompe disease, Gaucher disease or Fabry disease. While Gaucher patients experience anaemia and low blood platelet counts, those with other diseases suffer from breathing problems, brain damage, enlargement of the liver and spleen, twisted spines and loss of sight and hearing ability.

With only 12 genetic experts in the country, patients could be misdiagnosed. For example, those with Gaucher could be misdiagnosed and treated for Thalassemia. It took doctors two years to find out that Wilawan Panont, now 8, suffered from Gaucher disease, though she showed slow physical growth from birth and had severe nose bleeding for two years.

There is no cure and treatment is mostly symptomatic. Bone-marrow transplants are an option but it takes time to find a perfect match. Enzyme replacement therapy is costly. According to Forbes, to obtain Elaprase and Naglazyme for the ultra-rare metabolic disorder treatment, patients have to shell out over US$365,000 (about Bt11.5 million) per year. The medicine can only stop the deterioration; it can’t undo the damage.

Thailand sees an estimated five to 10 new cases of LSD per year. More than 10 families from each region carry the disorders. 

“The diseases require huge expenses as many organs malfunction and a patient may need to see many doctors for symptomatic remedies. Chiefly, patients suffer from poor access to drugs as medical expenses could run over Bt1 million a year,” Chulaluck said.

Some 10 families present at a session here called for the government’s help, as now only drugs for Gaucher are included in the universal healthcare plan.

While waiting for help, they joined the Genetic LSD Foundation set up recently to push for government assistance, offer help to affected families and spread the news on the rare diseases to the public. 

The foundation, established by the parents of LSD patients, received the Patient Advocacy Leadership (PAL) award last year. With a $10,000 grant, Genzyme Corp’s PAL Award supports the creation of a regional patient network to reach under-served patient populations in remote regions of the country.

“The network aims to establish assistance among families in the region. Leaders of the group will also build up networks with doctors to help other families,” said Boon Putthipongtanachot, the foundation’s chief.

The network should somewhat console the families by letting them know that they are not alone and should be a medium for parents to exchange information.

At the gathering, the family of Kaew Sareebud revealed that the women in the family are LSD carriers. The mother of four lost her youngest son because of MPS. His eyesight failed at 15 and he died six years ago at 23. Her younger sister’s son, now 23, suffers from the same genetic disease.

“I feel sorry for my sister and for other mothers,” she said.

She sympathises with those families that have to help their children with help in all activities, even in buttoning their clothes. Kaew’s eldest son is now married with a child who is free of the disease. She now has her eyes on the future of her only daughter, who is still single.

The misery inflicted by the disease can be prevented if families are aware of what is happening and seek early diagnosis and treatment for newborn babies before symptoms emerge. Symptoms can appear at any age and are mostly fatal for babies. A proper database is necessary in this regard, doctors say.