From Rare Disease Fund website By RDF
MEDICINE COSTS MORE THAN S$7,000 A MONTH
Christopher has an extremely rare condition called bile acid synthesis disorder. There are fewer than 50 reported cases around the world. His condition was discovered when he was four months old when his parents noticed that a scratch on his nose and a prick from a blood test left his nose and finger bleeding for more than 30 hours. Christopher’s eyes and skin were also jaundiced, and he was slow to gain weight, leaving him on the bottom of the growth chart.
For his parents, the pain was not just seeing their first born unwell, but in watching Christopher struggle and being bruised from blood tests and getting so hungry he reached for the pacifier for the first time. They were told then that his liver was enlarged and had some scarring.
This rare disease Christopher has interferes with the production of bile acids such as cholic acid, which help the flow of excretion of bile from the liver and assist in the absorption of fat and fat-soluble vitamins from food. Without cholic acid, toxic bile acids will build up and damage the liver, ultimately causing it to fail, and requiring early liver transplantation.
The medicine Christopher needs costs at least S$7,000 a month. As he will require a higher dose of medicine as he grows older and gains weight, the family worries each day about their ability to continue to afford Christopher’s treatment, and for his financial means in the future, as he has to be on medication for life.
Thankfully, the medicine has worked. Today, Christopher is a bundle of joy. He squeals, laughs, smiles and has a lot of personality. He is a very special mischievous two-year old who loves to have fun, loves music and big open spaces.
He has a long road ahead, but for Christopher and his parents, each day he is alive is a blessing as they celebrate every small milestone.