A Xi’an girl’s escape from early death sheds light on China’s arduous journey to make drugs affordable for rare diseases
- Gu Ruofei suffers from mucopolysaccharidosis (MPS), a rare metabolic disorder that stunts her growth
- The disease, estimated to afflict one in 250,000 births, is expensive to treat, a problem made worse by its absence from a Chinese government catalogue that qualifies certain drugs for insurance reimbursement
When Gu Ruofei was four and half years old, teachers at her school in Shaanxi province reported that she had trouble jumping during her dance class.
As her motor skills deteriorated, doctors in the provincial capital of Xi’an suspected the toddler may be afflicted by a metabolic disorder that stunted her growth. Blood tests in Beijing confirmed in 2004 that Gu had mucopolysaccharidosis (MPS), a progressively debilitating disease caused by the absence of an enzyme. Undetectable at birth, symptoms typically show up at one or two years old, and patients rarely live beyond 20 years.
Treatment, usually directed toward the symptom, is arduous and expensive, requiring specialist teams of paediatricians, orthopaedists, surgeons, audiologists or ophthalmologists all working together.
Luckily for Gu, she has a mother who just would not give up. Zhang Yu, a book-keeper, spent years visiting every hometown doctor in search of a treatment for her only daughter, before moving to Beijing with her husband for a job as a reporter to be closer to China’s best medical resources. Gu stayed in Xi’an, where her grandfather carried the little girl on his back everyday between home and school.
“I have been to many hospitals in Beijing, large and small, where all the doctors said there was no cure, even overseas,” Zhang said in a phone interview with South China Morning Post. “It was very despairing to see one’s child’s stop growing and suffering.”