Rare Disease Fund now covers Pompe disease, a rare inherited neuromuscular disorder

Mr Kenneth Mah, whose 10-year-old daughter Chloe has Pompe disease, cheered the move to cover the disease under the Rare Disease Fund.
Mr Kenneth Mah, whose 10-year-old daughter Chloe has Pompe disease, cheered the move to cover the disease under the Rare Disease Fund.ST PHOTO: BENJAMIN SEETOR

SINGAPORE - The Rare Disease Fund (RDF) now covers Singaporeans with Pompe disease - a rare inherited neuromuscular disorder where patients can incur medical expenses in excess of $500,000 each year.

The committee overseeing the fund announced on Sunday (Nov 3) that citizens can now apply for financial aid to help with their medical expenses for the disease which affects about one in every 40,000 live births.

With the addition, the fund now covers four conditions including primary bile acid synthesis disorder; Gaucher disease; and hyperphenylalaninaemia due to tetrahydrobiopterin (BH4) deficiency.

The fund has approved two applications for financial support so far. One of the beneficiaries is Mr Geoffrey Toi, a public servant whose three-year-old son Christopher suffers from primary bile acid synthesis disorder.

The condition interferes with the production of bile acids and if untreated, can lead to liver failure.

The fund covers a larger portion of Christopher's medication costs, which is currently about $6,250 a month, as compared to Medifund Junior, which had previously subsidised part of his medical fees.

"It was a blessing when this fund was announced, because it specifically covered his condition. Every bit of help matters," said Mr Toi, 35.

The fund was launched by the Ministry of Health (MOH) and SingHealth Fund in July this year. It combines community donations and Government-matched contributions to provide aid for Singapore citizens with specific rare diseases.

Senior Minister of State for Health and Law Edwin Tong said on Sunday that the fund recently received significant support from Temasek and the Tsao Family Fund.

 
 
 

"The listing of Pompe is possible because we have so many generous benefactors who have stepped forward selflessly, with a lot of compassion, to donate to the RDF," he added.

The fund has grown from $70 million last July to about $90 million, with the government matching community donations by three to one.

In addition, the Government is funding all operational expenses involved in managing the fund, ensuring that all donations received will be used solely for supporting patients.

"We hope that philanthropists, companies, community groups and individuals will continue to come forward as a society, as a community to help support patients with rare diseases... As more funds are raised, the Rare Disease Fund can be expanded further to cover even more types of treatments and more patients in future," said Mr Tong, who was attending a community carnival organised by Mount Alvernia Hospital in support of the RDF.

The carnival in Punggol raised more than $200,000 for beneficiaries of the fund. The sum includes three-to-one government matching.

Rare diseases are defined by MOH as conditions that affect fewer than one in 2,000 people, and mostly are genetic and often surface during childhood. There are no official numbers on how many people in Singapore have such rare diseases.

In some cases, effective treatments are available and the medicines can substantially increase patients' life expectancies and improve quality of life.

However, MOH noted that these medicines can be very costly, going up to hundreds of thousands of dollars a year, and patients will often need to take them for the rest of their lives.

Pompe disease is caused by a defective gene that results in a deficiency of an enzyme.

It results in the excessive build-up of a substance called glycogen, a form of sugar that is stored in a specialised compartment of muscle cells throughout the body.

Symptoms of the disease include extreme muscle weakness and breathing difficulties. The progressive nature of the disease means that it worsens over time, with the speed of progression varying from patient to patient.

Mr Kenneth Mah, whose 10-year-old daughter Chloe has Pompe disease, cheered the move to cover the disease under the RDF.

While insurance covers much of her treatment cost now - which is in excess of $40,000 a month - it may not be enough in future as she gets older and needs more of medicine.

"It gives us a greater peace of mind," said Mr Mah, 49, who ended his mobile phone business to become the main caregiver for Chloe.

Mr Mah is also the co-founder of the Rare Disorders Society Singapore.

"We hope that the fund will be able to cover all rare disorders in the future, as it gets more support from society."

More information on the RDF is available at www.kkh.com.sg/rarediseasefund