The last day of February is International Rare Disease Day, and 28 February 2022 is the 15th International Rare Disease Day.
X-linked adrenoleukodystrophy can slowly incapacitate people until they become semi-vegetative and may eventually die. As of now, there are no drugs in the world that target this rare disease.
Liu Xuanfei, 43 years old this year, unfortunately suffered from this disease. It took him 13 years to diagnose the disease. This is a rare hereditary metabolic disease, included in the first batch of rare diseases released by the state in 2018, more than half of the patients in childhood or adolescence onset, causing hearing and visual impairment, mental retardation, behavioral abnormalities, movement disorders and other problems, 95% of patients are male.
Because of this disease, Liu Xuanfei completely changed the trajectory of his life. From an IT executive and Internet entrepreneur, he became the founder of a rare disease public welfare organization.
"No matter what life gives you, there are always things you can do." With the support of this belief, he drove a motorhome with his patients and their families, three men, for 41 days, to 17 provinces and municipalities directly under the central government in China, driving more than 10,000 kilometers, and filming and recording the stories of more than 20 patients with rare diseases.
He called his campaign "Rare Disease Journey", in order to let more people understand rare diseases and let the public have more awareness of the genetic risks of rare diseases.
Wait 13 years for genetic testing to confirm a rare disease
Liu Xuanfei, 43 years old this year, now travels without a crutch.
He recalls the boy who loved sports in college, not only a member of the college basketball team, but also participated in many long-distance running competitions.
Liu Xuanfei in 2006. The pictures in this article are courtesy of the interviewees
2006 became a turning point in his life. "When I was playing basketball and grabbing rebounds that year, my ankle ligaments were torn and I lost the ability to run." Liu Xuanfei said that in retrospect, in fact, as early as 2004, I obviously felt that my athletic ability had declined compared with the past, "At the beginning, I just thought that I exercised less, the exercise frequency was unstable, and now that I think about it, it may already be an early symptom of a rare disease." ”
He came a long way from the onset of symptoms to the final diagnosis.
"I looked at a lot of experts in sports medicine, neurology, orthopedics, and at first I couldn't determine the cause. As my athleticism declined, I also tried two orthopedic surgeries, in 2014 I underwent ankle ligament repair surgery and in 2016 I underwent meniscal resection of my knee, but unfortunately my condition is getting worse and worse. ”
The decline in athletic ability has caused a certain degree of impact on Liu Xuanfei's work life, and with the development of the disease, this impact is getting bigger and bigger.
After graduating from university in 2000, Liu Xuanfei entered the Internet industry and can be said to be one of the earliest Internet people in China, and also served as an executive of Internet companies.
"At first I told myself that even if I was sick, I wanted to do something in the industry that I could do, and my symptoms were mild and didn't affect my brain." Liu Xuanfei said, but in 2017, he completely gave up starting a business for the second time in his life.
Liu Xuanfei in 2008.
He recalled: "At that time, although the disease had not yet affected my work, considering the risk of the disease, on the one hand, I could not give enough confidence to the outside world, on the other hand, my physical ability to bear it was limited, so the road to entrepreneurship was suspended." ”
In 2016, with the development of genetic testing technology in China, it brought a glimmer of hope to Liu Xuanfei's disease diagnosis.
He accepted the advice of a professional doctor, underwent genetic testing at an institution, and was eventually diagnosed with "adrenal leukodystrophy."
"The doctor told me that this is a rare disease and a degenerative disease, most of the patients are onset in childhood, and basically severe, at present, I am still mild." Liu Xuanfei said that after the diagnosis, he spent 2 months to accept his sick self.
There is no cure for it, and a public welfare organization for rare diseases has been established
What kind of disease is adrenoleukodystrophy?
"This is actually a recessive genetic disorder of the X chromosome, which causes problems such as auditory and visual impairment, mental retardation, behavioral abnormalities, movement disorders, etc., and 95% of patients are male." Cao Li, chief physician of the Department of Neurology of the Sixth People's Hospital Affiliated to Shanghai Jiao Tong University, said.
Liu Xuanfei consulted a lot of domestic and foreign materials to understand this disease. He also suggested that his sister also go through genetic screening, which confirmed that her sister was also a carrier of the mutant gene, which meant that her child also had the possibility of developing this rare disease.
"At present, there are many kinds of adrenal leukodystrophy in the world, and the causes are very different, but they all have a common feature, that is, they will affect the myelin sheath in the central nervous system, which in turn affects various areas of the brain. Due to the brain being affected, the patient's abilities will gradually deteriorate, from movement, vision, and hearing to learning, language ability, and the ability to eat autonomously, which may cause paralysis, become semi-vegetative, and eventually may even die. Liu Xuanfei said.
In the first list of rare diseases released by the state in 2018, he suffered from this disease. But unfortunately, as of now, there is no treatment drug for this rare disease in the world, and clinicians can only do "symptomatic treatment", not cure the symptoms.
"For example, if someone has epilepsy, they take drugs to treat epilepsy, but they can't treat such rare diseases." Liu Xuanfei said that although he has undergone two orthopedic surgeries, the surgical treatment still cannot stop the downward trend of athletic ability. Today, he can basically only rely on the strength of his upper body to complete the shooting.
Liu Xuanfei said that for many years, he has been trying exercise to delay the course of his illness, or through a series of rehabilitation training.
Because of a rare disease, he met a lot of patients, from the initial WeChat group, to 9 WeChat groups, in addition to QQ groups, vibrato groups, etc., everyone shared medical guidelines in the group, "Many people have this disease, do not know where to see, do not know what doctor to see, this is a very common phenomenon." He said.
In July 2020, Liu Xuanfei officially established a rare disease public welfare organization "Highlights Connect rare disease care home".
In July 2020, he also officially established a rare disease public welfare organization "Highlights Connect rare disease care home". In 2021, using the fragmented time, he also successfully obtained the certificates of senior health manager and nutritionist, and also took the initiative to sign up for a professional genetic counseling public welfare course.
"At present, running this non-profit organization is my main job, and I have been thinking about doing something for myself and the patients around me within my ability." He said.
He drove a caravan with the patients and their families to record and shoot the stories of the patients
Driving a motorhome to record the story of a patient, this idea Liu Xuanfei has had since 2020. But he officially set off in the summer of 2021.
"The idea came from my sister, who said to me one day, is it okay to record my patients?" Liu Xuanfei felt that this idea was very good, "In fact, I also want to tell the majority of patients through such an action that you are not fighting alone. ”
Before leaving, Liu Xuanfei did a lot of preparatory work, including financial budgeting, soliciting patients' opinions, connecting with patients who were photographed, etc., and at the same time looking for medical experts in this field and inviting them to talk about the latest treatment methods for rare diseases.
In July 2021, Liu Xuanfei, his patient Zhang Wei, and his family member Zuo Ge officially launched this love journey called "Rare Disease Miles".
In July 2021, he and his patient Zhang Wei and his family member Zuo Ge officially launched this love journey called "Rare Disease Miles". Three men drove a motorhome together, which lasted 41 days and traveled more than 10,000 kilometers, walked through 17 provinces and municipalities directly under the central government in the eastern part of the motherland, interviewed 28 groups of people closely related to rare diseases, of which 22 groups were patients or patients' families, and the other 6 groups were experts in the field of medicine.
Liu Xuanfei said that during the filming process, the stories of many patients touched him a lot, "Among these patients, there are those who are poor and poor, even if they have difficulty walking, they still work in front-line posts, and some insist on studying hard, do not give up with their dreams, and there are also newly graduated college students who devote themselves to the public welfare action of rare diseases." No matter how difficult the road ahead is, they are determined to do their part to help other rare disease patients in need in society. ”
A Shandong patient who participated in the filming said frankly: "I don't expect any way to treat myself, I only hope that our children will be spared from the ravages of this disease in the future." ”
Liu Xuanfei sent the stories of these patients to the Douyin platform, which currently has more than 5 million hits on the whole network, and the social attention is beyond his imagination. This life experience of his has attracted the attention of the Shanghai Rare Disease Prevention and Control Foundation, and Shanghai Education Television has made a documentary for him.
"We hope that through our lens, we can convey hope to the families of patients, and we also hope that more people in the society can understand our disease, have more awareness of the genetic risks of this disease, avoid the recurrence of such diseases, and continuously improve medical technology in this field, so as to ultimately reduce the birth defect rate in the mainland." This is the goal that Liu Xuanfei ultimately wants to achieve.