The child suffered from a super rare disease, and nearly 40 patient families "huddled together" to find a way out

This year's government work report once again proposes to "strengthen the guarantee of rare disease drugs", which has made more than 20 million rare disease patients in China see more hope.

In China, the CACNA1F gene mutation patient organization, a super-rare disease composed of nearly 40 families, is working to promote the development of this rare disease treatment in a spark manner.

Mutations in the CACNA1F gene can lead to severe eye diseases, and there are currently no effective treatments and drugs for this disease, which means that patients will be at risk of complete blindness. Because of this, patient families in many cities across the country contact medical experts and rare disease-related foundations everywhere, hoping that through the joint efforts of experts, scholars and public welfare foundations, successful symptomatic drugs will be developed as soon as possible.

The eyes of a small baby cannot be followed

The youngest son of Mr. Jia, a Beijing resident, is 5 years old and was diagnosed with rod cell malnutrition last September, a condition caused by a mutation in the CACNA1F gene. "We didn't think of this result at all, my lover and I, and the eldest son, the eyesight is very good, how come the younger son has such a serious eye disease?"

The same problem plagues the belly mom. When the belly was 7 months old, it was diagnosed with a CACNA1F pathogenic gene mutation through genetic testing. "From the initial thought it was just a small problem, to the final diagnosis of a 'super rare disease', this process has allowed us to go step by step to the 'abyss', and our hearts have been constantly broken and reshaped." Belly mom said.

Han han's mother and family settled in Guangzhou, and she was once a working woman with an enviable job. But with Han Han diagnosed with CACNA1F gene mutations, she quit her job, checked information on the Internet, took her child to seek medical treatment, accompanied her child... It became the main task of her life. When the reporter interviewed Hanhan's mother by phone, she hoped to make the interview time as early as possible, "It is best to be before 9 a.m., because after that I want to take my child to outdoor activities, and long outdoor activities are too important for children with this rare disease." ”

Compared with other children with the same disease, the Xun xun family in Xi'an faced a greater dilemma in the process of the child's diagnosis.

Soon after Heon-hoon's birth, Hoon-woo's mother noticed that his eyes were abnormal, and when he was 3 months old, his eyes still couldn't be followed, which for a small baby, indicating that the child's eyes might have problems. After the diagnosis of the ophthalmology experts of the Fourth Hospital of Xi'an, it was confirmed that "the child's eyes do not have a sense of light". Recalling the scene at that time, Xun Xun's mother said: "At that time, the mood was very low, and no sense of light meant that the child could not see things, what would he do in the future?" ”

Mother Huan Huan plays with her children outdoors. Courtesy of respondents

There is no cure for your child's illness for the time being

Children suffering from super rare diseases make parents very anxious, but what makes them even more confused is that there are few researchers studying the disease, there are no drugs, and there is no effective treatment. Hanhan's mother told reporters that due to the rarity of the disease, the diagnostic opinions of different hospitals and different experts are not consistent, and no effective treatment plan is given, so Hanhan did not do much intervention after being diagnosed in 2019. Now the Han han family can only take the child to review regularly and observe the changes in vision in time.

Xun Xun's mother and her child have traveled to many hospitals for medical treatment. After several inquiries, she found an expert in Jinan who studied the disease. "Before I went, I had great hopes that this expert might be able to help the children so that they could regain their light." However, the moment she walked out of the clinic, Xun Xun's mother's mood fell to the "freezing point" again, because she got more terrible news from the experts - the child's retinopathy was serious. That day, Xun Xun's mother squatted in the corner of the hospital door and cried loudly. Judging from the current situation, the cause of Xun Xun's illness is still not very clear, and the direction of treatment is even more unclear.

Like all parents of children, from the time the child was diagnosed, Mr. Jia and his wife embarked on a long road of seeking medical treatment. He consulted a large number of expert materials and medical literature on the Internet, hoping to find a glimmer of hope for treatment for the child. But unlike common diseases, frustatic rod dystrophy is rare in the world, and there is no effective treatment for this disease, let alone drugs.

In order to give the child a chance for treatment, Mr. Jia almost ran all the eye hospitals in Beijing, met many ophthalmologists, and the advice given by the doctors was basically to advise the child to reduce the Internet, increase the time of outdoor activities, etc., and also could not give an effective treatment plan.

"Hugging the group for warmth" in the WeChat group

When Xun Xun's mother fell into despair at the door of the hospital in Jinan, a strange lady gently patted her, who was crying bitterly. "This lady's child also has a CACNA1F gene mutation, and she welcomed me to join the CACNA1F family group and warm up in a group."

Xun Xun's mother said that the first thing she did after entering the group was to add all the family members of the patients in the group. At that time, there were parents of teenage children in the group, as well as parents of infants and young children, and Xun Xun's mother asked everyone in detail about the situation, because she wanted to get an answer, what will be the future results of Xun Xun's condition.

Mr. Jia is one of the members of the group, he told reporters that this group is the most important channel for parents to communicate with each other about their children's condition, obtain relevant treatment information, and scientific research information, "The group owner is an enthusiastic person with eye diseases, he has established a lot of genetic eye disease exchange groups, CACNA1 family group is one of them." In this group, there are 35 families from Beijing, Shanghai, Guangzhou, Shenzhen, Foshan, Changzhou, Chengdu and other cities.

Children suffer from the same eye disease, and parents have also experienced despair and helplessness, but because of the "home" of The WeChat group, parents have received mutual support and encouragement. Through massive data inquiries, they understand the relevant medical knowledge and strive to find a treatment for the child that can be tried.

Since the child's illness was diagnosed, Hanhan's mother has sent many emails to foreign medical experts to seek possible treatments, but almost no reply has been received. "I thought that on the one hand there might be a language problem, and on the other hand, maybe the experts weren't constantly doing research on this, so they couldn't give us advice."

In Beijing, the main thing Mr. Jia did when he returned home from work was to go online to check the latest information about the disease. "Now, as soon as my eldest son sees me sitting in front of the computer, he asks, 'Daddy, are you studying genetic mutations again?' "In the face of the child's questions, Mr. Jia is both helpless and distressed, and he is worried that in the dilemma of no cure, the younger son will one day lose the light." At that time, we were nervous, afraid, dazed, and wanted to make a hopeful way for our children, but we felt powerless. ”

In the family group, parents have made psychological construction for themselves over and over again and prepared for the worst.

The belly mom said: "I hope that during the child's precious and short treatment window, the relevant research progress can be faster." Some young children may be able to wait 10 years, but there are also many children who may be about to miss the golden time for treatment. ”

Every day, Xun Xun's mother thinks about how Xun Xun's future path should go, "If after the child grows up, there is still no substantial progress in this disease research, then I will tell the child more objectively and calmly that everyone is born imperfect, and you are no different from others." ”

Han Han's mother, who taught herself psychology, believes that her child's mental health is equally important, and she will teach her children how to correctly view the fact that they belong to the "low vision group".

"We move forward with experts and scholars"

Slowly, the efforts of parents have received more and more expert responses.

By chance, Mr. Jia found Wu Xiaobing, an expert on Chinese gene virus vectors, in the process of checking the data on the Internet. Mr. Jia said: "Professor Wu learned about our situation and recommended us to the Yicheng Foundation, which has a special fund for rare diseases in Rishi. ”

In February this year, under the mediation of Wu Xiaobing, the special fund set up a CACNA1F gene mutation research project team, which was joined by experts and scholars from hospitals, universities and drug research and development institutions.

The belly mother also said that at first, parents spontaneously found some research organizations and got in touch with experts and scholars. "At the end of last year, we found Professor Wu Xiaobing, and with Professor Wu's efforts, we set up a research group specifically for this disease. It can be said that this is the first rare disease research in China to be promoted by the patient's family. ”

"Bringing so many experts together on one platform to find a way out for our children is something that our parents can't achieve no matter how hard they try." Mr. Jia said that since the project team, parents have pulled experts and scholars into the patient's family group, "Every day we will ask the experts, is there any progress?" What do parents need to do with their cooperation? Experts will also answer the questions for everyone. Mr. Jia told reporters that on this scientific research platform, parents and experts and scholars are moving forward together, and everyone is eagerly looking forward to the successful development of therapeutic drugs a day earlier.

After the establishment of the project team, more patient families joined the WeChat group

CACNA1F gene mutation, where is the difficulty in the treatment and drug development of this super rare disease? Zou Liping, director of the Science and Technology Committee of the Pediatrics Department of the General Hospital of the Chinese People's Liberation Army, and Wu Xiaobing, an expert on Chinese gene virus vectors, expressed the same view in an interview with reporters, because there are very few patients with rare diseases, and the risk of small and micro enterprises and pharmaceutical companies developing such drugs is extremely high, so there is insufficient research and development power and difficulty in starting the project.

"So we recognize that the treatment of rare diseases requires more team participation, and it needs to be promoted by the power of scientific and technological public welfare, industrial public welfare and education public welfare." Wu Xiaobing said that it is very necessary and meaningful to conduct natural disease history research, early research, researcher-initiated clinical research and public resource library establishment, and targeted regulatory scientific research for a disease that has a promising "cure" but is difficult to start a project because of the low prevalence rate.

Wu Xiaobing is also an advocate of the Yicheng Foundation's Ruixi Rare Disease Special Fund, and in the process of communicating with patients and scientific research institutions, she found that parents have also become a bridge between researchers. She told reporters that the doctors of a well-known eye hospital established contact with themselves through Mr. Jia and joined the project research team.

In 2021, Yicheng Foundation funded 19 rare disease treatment related scientific research projects from 12 units, including Peking University First Hospital, Peking University Third Hospital, Peking Union Medical College Hospital, Capital Pediatric Research Institute, and Temple of Heaven Hospital. This year, the foundation will also focus on funding research on the basic mechanism of rare diseases, research related to gene therapy for rare diseases, research on the application of cutting-edge technologies in the field of rare diseases, and targeted funding for special research on major rare diseases. The number of funded projects will be twice that of last year, and the total number of funding projects will reach 40, and the scale and scope of funding will increase year by year since then.

Today, parents in the CACNA1F family group are looking forward to the future. Mr. Jia said that he and his wife are no longer confused, nervousness and anxiety have been greatly alleviated, "after the establishment of the research project team, there will be more scientists to study the disease, we and our children can see more hope." I know that drug development is a long process, and there will be failures, but we are willing to work hard and pay, and the child will have more choices and ways of treatment. ”

The belly mother told reporters that after the news of the establishment of the CACNA1F gene mutation research project team, many families took the initiative to find it, and the number of families in the family group has increased to nearly 40. "We are just a glimmer of light, just a spark, hoping to use our own actions to drive more people and bring greater influence, so as to promote the process of treatment and research and development of this disease, which I think is a very meaningful thing."

Beijing News reporter Wu Tingting intern Zhang Xiaoyue

Edited by Liu Mengjie Proofreader Wu Xingfa