Singapore – A family shared their heartwarming story of living with a child diagnosed with a rare disease.
February 29 was Rare Disease Day and CEO of Temasek Holdings, Ho Ching, shared a story of Christopher, a 3-year-old born with a rare genetic condition called Bile Acid Synthesis Disorder on Facebook.
The video of Chris, with his parents Geoffrey and Amelia, was posted in Our Grandfather Story’s page. The group travels around Singapore to “uncover everything from the origins of local childhood treats to no-holds-barred conversations with persons with disabilities.”
Chris was born on December 17, 2016, and was quite a happy child. “Although sometimes during meals and baths, he gets slightly cranky,” said Geoffrey. “But we lived happily ever after. I wish that was it,” began Chris’ dad. Chris never stopped crying, and they were faced with the never-ending presence of medical bills.
Geoffrey described what it felt like to have a child with a rare condition, someone who would “bleed non-stop for 36 hours just because of a small prick on the finger and a scratch on the nose.” Geoffrey asked if as a parent, would you panic? “I know I would,” he added. Chris never stopped bleeding.
After five days at the hospital, where the parents watched Chris struggle with blood tests, the child was diagnosed with Bile Acid Synthesis Disorder, a rare condition which if untreated, can lead to liver failure. And the only treatment option was lifelong medication which costs S$7,000 a month. This amount will increase as Chris gains body weight and is estimated that at 16 years old, his dosage will cost around S$35,000 a month.
Fortunately for Chris’ family, the Rare Disease Fund (RDF) provides long-term financial support for patients with rare diseases requiring treatment with high-cost medicines.
Geoffrey explained how the condition was caused by two defective copies of the same gene, one from each parent. “What are the chances that two people with the same defective copy of the gene would fall in love get married and have a son with such a condition? Unlikely, right? But sometimes in life, it happens. And it happened to us,” he said.
Chris got approved to be a beneficiary of the RDF, and it was a time of much joy for the family.
“If there’s anything good that came out of this whole ordeal it brought both Amelia’s and my family closer,” said Geoffrey. “Everyone was researching, thinking of ways to ease our burden and helping Chris.”
Chris has been responding well to the medicine and even reaching milestones in development, like any other child, said his doting father.
The video also included a message from Geoffrey and Amelia for Chris, where the parents expressed their unconditional love and support for their brave boy. They reminisced on happy memories and reassured Chris to stay courageous for the rest of his life and to “cling to hope.”
In Singapore, there are around 2,000-3,000 individuals living with a rare disease and are faced with “tens of thousands of dollars in monthly life-saving medications,” said the RDF in partnership with Temasek Foundation. For those willing to help, RDF is open to donations.
Watch the full video below.
Today is #RareDiseaseDay. For 3-year-old Christopher who was born with a rare genetic condition, he probably won't remember much of what it's been like growing up.But it hasn't been an easy nor forgettable journey for his family. This is Geoffrey and Amelia's letter to their special boy: You are not alone, so be brave and have courage.
Posted by Our Grandfather Story on Friday, February 28, 2020