Baby with rare muscle disease and a swollen heart needs help

Caitlyn, who has been diagnosed with Infantile Pompe Disease, needs RM15,240 monthly for medication.
PHOTO: The Star/Asia News Network

Her heart is greatly enlarged, every muscle in her is weak and her tongue is so swollen that she has trouble breathing.

A 10-month-old girl from Bayan Lepas, Penang, has the rare Infantile Pompe Disease (IPD) and just to stay alive for the hope of recovery, she needs RM15,240 monthly for medication.

Unable to cope, her parents are appealing to public charity through One Hope Charity and Welfare Berhad.

Without the required enzyme replacement therapy (ERT), doctors feared that Caitlyn Ooi Xuen En would not live beyond two years old, said her mother Adeline Yeap Mei Ling, 31.

She said a 50mg bottle of that enzyme costs RM2,540 and Caitlyn needs six bottles a month to keep her body functioning normally. As she grows, the dosage must be increased too.

One Hope Charity and Welfare Berhad founder Chua Sui Hau said Caitlyn was the first child in Penang diagnosed with IPD.

The organisation is helping the family to raise RM250,000 for a year's medical expenses.

"The chances to be diagnosed with IPD is one in 40,000, and it has been classified as a very rare disease.

"Caitlyn is unfortunate to become the one of the eight children to have this disease in Malaysia," said Chua in a press conference at the charity body's centre in Kota Permai, Bukit Mertajam, on Friday.

IPD is a genetic disorder in which the body does not produce acid alpha-glucosidase. Without this, glycogen in the body cannot become simple glucose and will accumulate in every muscle, causing severe damage.

The purpose of the ERT is to substitute the missing enzyme and break down the store of glycogen.

The disorder can strike at anytime, from infancy to late adulthood.

Chua said Yeap and husband Poh Siang, 33, were both engineers with a combined income of RM10,000, but it would not be enough to keep Caitlyn alive.

Those who wish to help can contact the One Hope Hotline 016-4192192 or 04-5059800.