Operation Santa to help rare diseases foundation

For seven years, Annie Ho searched in vain to learn what illness was afflicting her son David.

She took him to dozens of doctors in Hong Kong, but none were able to diagnose the disease that drained her son's strength and caused seizures.

"Those were very painful years. My son was suffering but no doctor could help him," said Ho, who did not want to give her son's full name or her own real name, to protect the 10-year-old's identity.

David's symptoms began when he was three years old. His limbs were so weak that he got tired and fell down easily. As he grew older, the seizures began.

Last year, Ho finally met a doctor who suggested David be diagnosed for rare diseases.

The tests are not available in Hong Kong, but with funding from the Joshua Hellmann Foundation for Orphan Disease, a sample of his bone marrow was sent to the United States for analysis.

He was confirmed to have Glucose Transporter Type 1 Deficiency Syndrome, which saps the body's supply of glucose. It is caused by a genetic mutation, and David's is the first case reported in Hong Kong.

"It was such a relief [to identify it]," said Ho. "Though there is no cure for the disease, at least I can stop searching now."

David's symptoms have been relieved with dietary changes.

"He can sleep better now," said his mother. "In the past, he didn't have the strength to play in the park. Now he can run around. He has become a more cheerful boy." The proper diet helps to control the seizures, and doctors said David could have died without the right diagnosis. It is not known yet how much further his condition will improve.

Rare illnesses like David's are called "orphan diseases", said Hellman foundation director Julie Andersen. They are considered "abandoned" because there is little or no research being done on their treatment and diagnosis, since they offer no profits for drug manufacturers.

Operation Santa Claus, jointly organised by the South China Morning Post and RTHK, is raising funds for a foundation programme that sponsors diagnostic tests for orphan diseases.

Donations will also go to the foundation's art therapy classes designed to relieve stress and promote mutual help between patients' families.

HOW YOU CAN GIVE

• Donate online by credit card at osc.scmp.com

• Donate at an ATM or at any HSBC branch (account no: 502-676299-001 for SCMP Charities Ltd - Operation Santa Claus)

• You can donate with a cheque payable to "SCMP Charities Ltd - Operation Santa Claus" and mail it to: Operation Santa Claus, Morning Post Centre, 22 Dai Fat Street, Tai Po Industrial Estate, New Territories,

• Donations of HK$100 or more are tax-deductible. If you would like a tax receipt, please send the completed donation form and original bank receipt, with your name, address and phone number, to the above address. Please call 2680 8159 or e-mail osc@scmp.com with any inquiries, or visit us online at osc.scmp.com