The Tong Family Story
Submitted by Yanyan's mother, Regina Tong:
Yanyan was born in October 2024. He was very healthy at birth, weighing 3.6kg. My husband and I were very happy to welcome our first child. We did not notice anything different in Yanyan's first two months. He grew very well. It wasn’t until I shared Yanyan's video with my colleague, who told me that Yanyan's eyes were trembling and he needed to see a doctor.
It was Yanyan's March child care time, so I went to the doctor and asked about his eyes. The doctor told me that Yanyan's height and weight were normal, but his motor skills were lagging and his head control was unstable. She recommended that we refer him to the ophthalmology and neurology departments. We went to the ophthalmology department of the Children's Hospital for fundus screening, which showed normal eye structure. At the same time, we did a whole genome genetic test for Yanyan.
A month later, in the neurology department of the Children's Hospital, we did an EEG and cranial MRI. The EEG results were normal, and the MRI showed that myelination was lagging, suggesting that Pelizaeus-Merzbacher Disease (PMD) could not be ruled out. This was the first time I heard about Pelizaeus-Merzbacher Disease. I kept searching for information online. Yanyan was a healthy child. I felt very frustrated and confused. While waiting for the results of the genetic test, my husband and I kept praying that it was a mistake and that my child was just developing slowly.
In February 2025, we received the results of the genetic test, which showed Yanyan had the PLP1 gene point mutation and was suspected to be diagnosed with PMD. I learned that I passed it down to Yanyan. For a long time, I blamed myself very much. I did not give my child a healthy body, but I quickly cheered up.
I took Yanyan to Peking University First People's Hospital to see Dr. Wang Jingmin, who is an expert in PMD research in China. She told me that there is no specific drug at present. The targeted drug in the United States is only suitable for repeated mutations of the PLP1 gene. It is currently recommended that we do rehabilitation and do a developmental assessment every 3 to 6 months. Since Yanyan was four months old, he has participated in rehabilitation training, mainly physical therapy and pediatric massage. Today, his head control is much more stable. At the same time, we learned that China's ExoNeuglia company is doing research on PMD and is expected to conduct clinical trials in the next few years.
I feel that I have seen hope in the darkness. I will continue to take Yanyan to carry out rehabilitation training, and hope that the successful development of the PMD drug can help children with PMD in our families recover their health.
