August 18, 2021 was the day Niu Niu was born. After a nervous wait, we finally got the news that both mother and child were safe. When I returned to the ward, the sun had just come out. I took a photo of Niu Niu and posted it in the family group to share my joy with everyone. During the following 4 days in the hospital, I looked at Niu Niu in the baby basket and imagined what he could do when he grew up. Every thought filled my heart like beautiful bubbles.
After more than ten days, my wife and I began to worry a little bit, because compared with her sister when she was young, Niu Niu seemed less active, and had a sense of weakness, and liked to stick out her tongue. We also comforted ourselves that Niu Niu might be too small, and it might be fine when she grows up. When Niu Niu was 21 days old, we took her to the Provincial Children's Health Care Center for a cardiac ultrasound. The results showed that Niu Niu's heart wall was thick, and she had to be hospitalized for treatment. During the hospitalization, she underwent genetic testing at the doctor's suggestion. One month later, in the afternoon, we received a call from the doctor at home. Niu Niu was diagnosed with glycogen storage disease type II, also known as Pompe disease, and needed to go to the hospital for treatment immediately.
The night before we went to the hospital, the whole family stayed up all night. We searched for information about Pompe disease and how to treat it through various channels, but more searching brought us deeper despair. The prognosis of infantile Pompe disease is poor, and the only treatment, enzyme replacement therapy, is expensive, like a mountain pressing down on the whole family. Thinking of the consequences in the future, Niu Niu's mother and I kissed Niu Niu again and again with tears in our eyes, saying sorry over and over again.
The whole family spent the first week after the diagnosis in depression and despair, and cherished every conversation with the doctor, hoping to get some good news from the doctor. The real hope came during the hospitalization observation after the first treatment, when Niu Niu's attending physician, Director Zhang of Zhejiang Provincial Children's Health Care Center, walked into the ward. After checking Niu Niu's condition, he introduced us to the treatment method of genetic diagnosis and treatment. The therapeutic drugs are currently in clinical trials, and volunteers are being recruited. If Niu Niu's condition improves after taking the drugs, the prognosis will be much better than the current treatment. However, there are also risks with drugs in the clinical stage, and we need to carefully consider whether to choose to receive gene therapy.
Before deciding to accept gene therapy, the whole family talked for a long time. We expect gene therapy to bring miracles and give Niu Niu a normal life. At the same time, we are also worried that the immaturity of the adeno-associated virus vector used in gene therapy will bring unpredictable risks to Niu Niu. In the end, everyone decided to choose gene therapy. On the one hand, we believe that with our continuous exploration of human genes, we will go back to the most fundamental genes for many diseases to find the causes and solutions. On the other hand, every breakthrough we make in the treatment of diseases is always achieved through continuous attempts. I believe that gene therapy has a positive effect on Niu Niu's current treatment.
After the preliminary qualification review, Niu Niu's mother and grandmother brought Niu Niu to Beijing. Because of the epidemic, Niu Niu took medicine one month later. After 98 days of preliminary waiting and medication observation, Niu Niu was successfully discharged from the hospital and returned to Hangzhou. When I went to the station to pick up Niu Niu, I was pleasantly surprised to find that Niu Niu had grown a lot, loved to move, and could clearly feel the increase in strength when grasping things. He began to laugh and became more lively. After truly seeing the obvious changes that gene therapy has brought to Niu Niu, the dark clouds gathered in the hearts of the whole family slowly dissipated, and the depressed mood at the beginning of the diagnosis was also swept away.
It has been about one year and two months since Niu Niu started taking the medicine. In the follow-up, Niu Niu's various indicators have been relatively good, and the enzyme values in his body are slowly approaching normal levels. Now Niu Niu has become a naughty boy who likes to rummage around, likes to join in the fun when his sister plays games, and likes to push the car around the house. Niu Niu's recovery often makes his family forget his condition a year ago, and also makes the whole family particularly relieved and happy. I hope Niu Niu will grow up happily and have a healthy body to face the future life.
My family and I sincerely thank GeneCradle! As someone who also works in the pharmaceutical industry, I know how difficult it is to develop a drug. The birth of a new drug often takes more than ten years and more than one billion dollars. I thank GeneCradle for its unremitting efforts for patients with rare diseases, thank everyone at GeneCradle for their efforts in the birth of new drugs, and thank GeneCradle for bringing hope to countless families. At the same time, I hope that more drugs from GeneCradle will be launched soon to benefit more patients. After Niu Niu was diagnosed, we also received help from many Pompe patients and their families. I hope that all Pompe patients and their families can actively face and cooperate with treatment, and under the leadership of excellent companies like GeneCradle, we can overcome Pompe disease as soon as possible. "