It was only a scratch on four-month-old Christopher’s nose, but the wound continued to bleed over the next 24 hours. His eyes and skin were also jaundiced and he was not gaining enough weight.
These symptoms prompted his worried parents to seek medical advice. Investigations revealed that Christopher’s liver was enlarged and had scarring. Subsequently, Christopher was diagnosed with an extremely rare condition called bile acid synthesis disorder.
Bile acid synthesis disorder belongs to a rare group of inherited genetic disorders caused by defects in the enzymes that make bile acids. There are less than 50 reported cases around the world.
This defect leads to a buildup of abnormal bile acids, which may be toxic to the liver. If left untreated, buildup of toxic bile acids may result in progressive liver disease or even, liver failure.
A rare disease is defined as one which affects fewer than one in 2,000 patients. It affects people of all ages, though most are often diagnosed at birth or during early childhood. About one-third of patients with rare diseases globally do not live beyond five years old.
Patients with rare diseases have few or no treatment options. Treatment, if available, is very expensive and this exerts a heavy financial burden on the patients and their families. The cost of Christopher’s treatment is at least $7,000 a month.
“The costly medication for the individuals diagnosed with rare genetic diseases often places a huge financial burden on the patients and their families, potentially forcing them to have to choose between life or death. I wish that my gift, combined with those from many others in our community, can help these patients buy time and defray treatment costs their families need to bear,” said Mr Chua Kee Lock.
Mr Chua is the Chief Executive Officer of Vertex Holdings (VH), a Singapore-based venture capital investment holding company. Earlier this year, he spearheaded his company’s efforts to raise funds to support the Rare Disease Fund (RDF) as part of their efforts in giving back to the community.
The RDF is a charity fund that seeks to provide long-term financial support for patients with rare diseases requiring treatment with high cost medicines. managed by KK Women's and Children's Hospital (KKH) Health Fund (part of SingHealth Fund), the RDF has the support of the Ministry of Health and provides a platform for the community and Government to come together to support patients with rare diseases over their lifetime.
Apart from making a personal contribution, he rallied senior management, staff and friends of VH to make a contribution. A fundraising campaign was also started in April on fundraising platform Giving.sg by VH to raise funds through public donations. With the online campaign ending on 30 June, the collective efforts by VH raised a grand total of just over $1.9 million for the RDF.
With support from the RDF, Christopher today is a thriving fun-loving six-year-old boy who enjoys music and running in big open spaces.
“Hopefully, advances in technology can avail affordable medical options for enhancing the length and quality of their lives, to pursue their dreams and live life to the fullest,” Mr Chua said.
*profile taken from Rare Disease Fund