In April 2023, Xiaochen was born amid the full anticipation of his family. The joy of becoming new parents, like the warm spring sun, filled this ordinary household. Being cautious first-time parents, they had Xiaochen undergo a careful blood test, which showed no abnormalities. The re-examination results were equally reassuring. The whole family happily went through the discharge procedures with Xiaochen, immersed in the happiness brought by the new life.
However, the shadow of fate was quietly gathering. In China, there are about 100-300 new cases of WAS syndrome every year, and less than 50 of them can be diagnosed. Unfortunately, Xiaochen became one of them. WAS syndrome, namely Wiskott-Aldrich syndrome, is an X-linked recessive primary immunodeficiency disease caused by mutations in the WAS gene on the X chromosome. Most patients are male, usually onset within 1 month after birth, with an incidence rate of 1-10 per million. The survival period of typical WAS children without treatment is about 15 years, and bleeding, tumors, and severe infections are the main causes of death.
Only a few days after birth, Xiaochen suddenly had severe hematochezia. His panicked parents immediately took him to various hospitals. During this period, misfortunes never come singly for Xiaochen. He suffered from severe lung infection and skin infection, and also developed severe anemia. His condition deteriorated sharply and he was transferred to the intensive care unit, with his life hanging in the balance. The local doctors suspected a congenital abnormality, so they performed a bone marrow aspiration and genetic testing on Xiaochen. More than a month later, Xiaochen was diagnosed with WAS syndrome. This unfamiliar and terrifying disease, like a heavy hammer, struck this originally happy family.
"We had never heard of WAS syndrome. We thought surgery could solve it, but we didn't expect that hematopoietic stem cell transplantation was necessary," Xiaochen's parents were filled with shock and helplessness. Why did this rare disease befall their well-behaved and rarely crying child? Recalling the situation at that time, Xiaochen's mother still felt a lingering fear: "When we just got the diagnosis, it felt like the sky was falling. The doctor said the child was too young, only 2 months old, and stem cell transplantation couldn't be performed at that time, telling us to prepare ourselves mentally..." They carried the child around major hospitals in Dongguan, Shenzhen, Guangzhou and other places. Every time they stepped into a hospital with hope, they were always met with the doctor's euphemistic words, "Go home first." Only a few doctors suggested waiting until the child was more than 8 months or 10 months old for transplantation. But in the more than 2 months since his birth, Xiaochen spent most of his time in the hospital, even being rescued in the ICU. He simply couldn't wait.
Sorrow, like a tide, engulfed the family. Xiaochen's mother cried all day long, and excessive grief and anxiety made her lose her breast milk in just 2 days. One hospital said it could provide treatment, but because the child was too young, it couldn't guarantee any results. Although Xiaochen's parents were mentally prepared, they didn't dare to let the child receive treatment rashly. However, the child's condition was urgent and couldn't be delayed.
Since Xiaochen was diagnosed, his parents searched frantically for doctors in related fields every day, kept making phone calls for consultation, struggling in the abyss of despair. Just when they were almost giving up hope, they accidentally saw a report by Director Chen Jiao from the Department of Hematology and Oncology of Beijing Kyoto Children's Hospital, in which the case was exactly the same as Xiaochen's situation. The two instantly felt a glimmer of hope, got extremely excited, and immediately called the hospital for consultation. Fortunately, after several twists and turns, they got in touch with President Sun Yuan. Having heard that President Sun Yuan had rich experience in the treatment of children's hematological diseases, especially in hematopoietic stem cell transplantation, a spark of hope ignited in their hearts.
After carefully understanding Xiaochen's condition, President Sun Yuan clearly stated, "The diagnosis of the child's WAS syndrome is very clear. With such a severe infection at such a young age, the condition is critical. Hematopoietic stem cell transplantation should be carried out as soon as possible. Kyoto Children's Hospital is capable of treating this, so you should come here as soon as possible." However, after repeated disappointments, Xiaochen's parents still had concerns. They anxiously asked, "What's the cure rate?" When they heard President Sun Yuan firmly reply "90%", the couple, as if clutching at a lifeline, immediately took the child and flew to Beijing.
But new problems followed. None of the family members matched Xiaochen, which threw the couple into another collapse. It should be noted that finding suitable hematopoietic stem cells is like looking for a needle in a haystack. At this time, the hospital quickly sent matching applications to the Chinese Marrow Donor Program and 7 cord blood banks. Luck finally smiled on this suffering family. After a long and anxious wait, good news came - a suitable cord blood was found in Shandong Cord Blood Bank, with nucleated cell count and cell activity fully meeting the clinical needs. Xiaochen finally had a hope of survival.
Hematopoietic stem cell transplantation is currently the only way to cure WAS syndrome. Cord blood is rich in hematopoietic stem cells and can be used to treat dozens of diseases, including various immunodeficiency diseases, congenital bone marrow failure, hereditary diseases, leukemia, aplastic anemia, lymphoma, etc. It also has the advantages of physical storage and being available on demand. For Xiaochen, this cord blood was undoubtedly a ray of hope for life.
Although Xiaochen was very young, only 3 months old at the time of transplantation, under the careful care of the medical team led by President Sun Yuan and the nurses, the transplantation process proceeded in an orderly manner. Director Chen Jiao paid close attention to Xiaochen's various indicators and said happily, "The implantation of cord blood hematopoietic stem cells went very smoothly, and there were no obvious rejection reactions in the later stage. The child has recovered quite well. The advantage of cord blood being available at any time is fully demonstrated. The effect after transplantation is stable, and the risk of chronic rejection is low. Through cord blood transplantation, the child can have a higher quality of life."
Under the leadership of President Sun Yuan, Beijing Kyoto Children's Hospital has achieved remarkable results in the treatment of children's hematological diseases such as WAS syndrome. The hospital has successfully performed 23 transplants for WAS babies, among which 16 babies received transplants within 1 year of age, 11 babies even completed transplants within 6 months, and the youngest baby was only 2 months old, with an overall survival rate as high as 95.6%. Especially cord blood transplantation, with high survival rate and low incidence of later rejection, has brought new vitality to many children.
Now, Xiaochen's height and weight are the same as those of children of the same age. He is smart and clever, full of curiosity about new things around him, and can politely say "Goodbye, auntie" to the medical staff on the phone. Xiaochen's mother said with great gratitude, "As long as he is healthy, we, as parents, are really satisfied. A special thanks to Shandong Cord Blood Bank for providing the cord blood, which enabled us to successfully match so quickly. I can't imagine how long we would have to wait if this hadn't worked out. We are also very grateful to President Sun Yuan, Director Liu Zhouyang, Director Chen Jiao and the nurses. Director Chen has taken great care of us, considered every aspect very thoroughly, and often comforted me, telling me to take it easy. The medical staff here are all the best."
Xiaochen's recovery, like a bright light, not only illuminates his family but also brings hope to all rare disease patients and their families, demonstrating the progress and power of modern medicine. As President Sun Yuan said, "We stand in the same trench as the patients' families. Only by working together with a unified goal can we divide the work and cooperate, defeat the disease, reduce the children's pain, and let them achieve the best prognosis." In this battle against the disease, Dr. Sun Yuan and her team, with their exquisite medical skills, firm faith and endless love, have propped up a blue sky of life for Xiaochen, and also let us see the warmth and power of medicine.
EN
CN