"Happy Birthday!" On Jan. 8th 2021, cheers and wishes came from pediatric ward of Peking Union Medical College Hospital. This day was also the day when Dandan (pseudonym), a 4 -year-old girl with congenital mucopolysaccharidosis type I (MPS I), received her first dose of enzyme replacement therapy. With the multidisciplinary consultation by pediatricians, anesthesiologists, and otolaryngologists, Dandan successfully completed the treatment after 4 hours. As a celebration, doctors and nurses brought out a birthday cake and gave their warm wishes to Dandan. What a special birthday!

Aldurazyme® (laronidase), the "special remedy" for MPS I, was approved in China in June 2020. "Dandan’s parents learned that this effective drug was already on the market, and requested to get treatment at PUMCH. Therefore, she was admitted to our pediatric ward a week ago." said Professor Qiu Zhengqing, a pediatrician. Under the great concern of our President Zhang Shuyang, who is also the Chair of Chinese Research Hospital Association Rare Disease Branch, General Office, Department of Medical Affairs, Department of Pharmacy and Legal Affairs Office cooperated closely to accelerate the approval of this special therapy in a "Drug to Patient" model. Therefore, Dandan became the first child who received this enzyme replacement therapy in PUMCH, and the first in mainland China as well.

After the first dose of enzyme, Dandan's overall condition improved. Her face expressions became richer, and her hard and swollen skin became softer. She will be receiving enzyme replacement therapy once a week. The optimal treatment for Dandan is allogeneic hematopoietic stem cell transplantation after a short-term enzyme replacement therapy. It is the common wish of all PUMCH staff that MPS kids like Dandan can grow up healthily.

Careful and precise infusion procedures of a nurse practitioner

Dandan’s special 4-year-old birthday party with doctors and nurses

Photos: Sun Liang; Department of Pediatrics

Reporter: Wang Jingxia

Translator: Yu Zhongxun

Editor: Zhuang Junling