Tao Cheng hadn't eaten tomatoes in five years, and she was even afraid to see them. The skin as thin as a cicada's wings and the red sticky flesh made her shudder every time she saw it, because it was very similar to the skin on her daughter Qi Qi's body. However, Qi Qi's skin is more fragile, and as long as it is touched or rubbed, translucent blisters will appear, and the surrounding skin will break and ulcerate.
Qi Qi suffers from Epidermolysis Bullosa bullosa (EB), an international rare hereditary skin disease that lacks structural proteins in the skin due to genetic defects, with an incidence of about 1 in 50,000. It is clinically characterized by blisters or blood blisters of mucosal tissues such as the skin, eyes, mouth, esophagus and respiratory tract after minor friction, and then traumatic ulceration. The severity of EB varies greatly, with mild patients showing only missing nails, and severe patients dying within a few months due to wound infection, pneumonia, severe anemia, and stunted growth, and are also a high incidence of skin cancer. Because the skin of these patients is as fragile as the wings of a butterfly, they are also known as "butterfly babies".
Image source: AKAMERENN
Recently, a baby who has just turned 7 months old in Suzhou has completed the donation of remains, and is also the youngest donor of body and cornea in Jiangsu Province. In June 2021, Ms. Wu successfully gave birth to a baby boy, and just as the family was immersed in the joy of the arrival of a new life, they found that the child's fingers were damaged in a way that was difficult to heal. Genetic testing revealed that the child was also diagnosed with EB.
"After the birth of the child, he suffers a lot, and ulcers often occur in the mouth and skin." Ms. Wu said that she had taken her child to a number of hospitals in Suzhou and Shanghai for treatment, although the doctors gave professional treatment and careful care, the family also joined the "Butterfly Baby Care Center Family", a warm organization, but at present, for this disease, there is no better cure at home and abroad, only timely treatment of broken skin and control of infection. At the beginning of September 2021, Ms. Wu's family decided to take the child home to take good care of it, and despite all their efforts, the "butterfly baby" left this world on January 27, 7 months and 3 days.
In September last year, shortly after Ms. Wu's family brought their child home, they contacted the Red Cross Society of Wuzhong District in Suzhou by phone to inquire about the donation of the remains. At 2:30 a.m. on January 27, the child died and was immediately sent to medical school. Due to the timely extraction, the child's cornea health is very good, but because the donor is young, the cornea has not yet fully developed, so the clinical use is limited, basically can only be used for the repair treatment or plate transplant surgery treatment of children with congenital corneal dermoid tumor. At present, these two precious corneas are preserved in the corneal preservation solution, which can treat the eye diseases of at least 3 children.
According to the "2022 China Rare Disease Industry Trend Observation Report" released by the Sullivan Joint Pain Challenge Foundation, among the 35 "global drug-free" diseases in the catalog, 11 diseases have drugs under research and enter the clinical stage in the world, and only 2 drugs have clinical trials in China.
There is a lot of discussion about rare diseases such as Fabre disease, hemophilia, Huntington's disease, multiple sclerosis and so on, and between 2020 and 2021, the treatment drugs for the above rare diseases have been included in medical insurance, which has brought great help to patients. However, the disease EB is not concerned by most people in the public list of 121 rare diseases. Among China's huge 20 million rare disease patients, there are about 1,200 "butterfly babies" whose skin is "as fragile as butterfly wings". Zhou Yingchun, chairman of the Butterfly Baby Care Center, said that the best treatment method is only skin grafting, but there is currently only one clinical trial in China.
Compared with patients with rare diseases that have drugs that can be treated and the drugs have been included in medical insurance, what help is most needed for the actual survival of EB patients?
Because Zhou Yingchun and his wife both carry this recessive gene, their eldest daughter unfortunately becomes a butterfly baby. "EB has no medication to treat, only through dressings and care to prevent infection and accelerate wound healing. Among them, the bathing process is very critical and requires normal saline. However, the science popularization alone has also encountered many difficulties, because some patients' families have never been able to understand why they should add salt to the water. "Zhou Yingchun is the initiator of the Shanghai Debo Butterfly Baby Care Center, and he has been popularizing and guiding the direction for patients.
Shanghai Debo Butterfly Baby Care Center
In August 2016, Butterfly Baby Care Center held an EB Patient Care Training Course and a Doctor Seminar in Shanghai
In order to save her daughter, Zhou Yingchun taught herself all the knowledge related to the disease, translated and sorted out more than 100,000 words of disease-related materials, and compiled the "Guide to Home Care for Epidermolysis Bullosa". On the official website of the Butterfly Baby Care Center, all the knowledge and guidance needed for the disease are recorded in detail, including nursing videos, research results, and medical institution guides.
Eventually, the dressings needed for wounds in EB patients became the most urgent problem to be solved. Butterfly baby needs to use a special dressing, but the special dressing is expensive, a single piece will cost hundreds of yuan, a moderate patient uses the most economical and economical way to care for the wound, the cost of a month is also 3,000 yuan, and the wound area of severe patients is large and numerous, and the monthly cost may be as high as tens of thousands of yuan. At present, only a few top three hospitals in Beijing and Shanghai can purchase this high-quality dressing through medical insurance, but it also needs at least 1.5 yuan per square centimeter, which is a heavy and unbearable economic pressure for butterfly baby families that need long-term large-scale use. To pay or to pain? In the face of children's pain and large expenses, parents can only sigh.
The "toilet paper boy" who once aroused widespread concern in society was bandaged with toilet paper because he could not afford to buy dressings, resulting in infection and worsening of the wound. Fragile butterfly babies need quality dressings to alleviate the pain they have to endure every day. Therefore, the Beijing Angel Mother Charity Foundation and Shanghai Debo Butterfly Baby Care Center cooperated to launch the "One Square Centimeter Of Care" monthly donation project to raise funds to provide free special dressings for poor patients and newborn patients to alleviate the pain.
Daily emergency care for butterfly babies
Due to the small number of patients, the treatment items of EB patients are not included in medical insurance, and the price reduction of some dressing products included in medical insurance is relatively limited. In this regard, the EB patient group has repeatedly called for the support of special funds to help reduce the burden of drug change. What Zhou Yingchun hopes most now is that medical insurance, medical assistance, commercial health insurance, charity mutual assistance, etc. can pay attention to these "lone braves" and help them.
According to the 2002 statistics of the United States, the incidence and prevalence of EB in newborns were 20 parts per million and eleven parts per million, respectively, of which about 54% of patients with simple type (EBS), 4% of junction type (JEB), 29% of malnutrition type (DEB) patients, and 12% of patients were not clearly diagnosed. According to the prevalence rate in the United States, there should be more than 10,000 EB patients in China. By the end of 2021, there will be more than 1,200 patients registered at the Debo Butterfly Baby Care Center in Shanghai, but the prevalence rate in smaller countries such as New Zealand and Chile is about 50 parts per million, and the upper limit of the number of domestic patients should be 70,000.
Butterfly Baby Mao
At present, the Department of Dermatology of Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine has a special wound clinic to treat and care for EB patients, and Jiang Liping, director of the nursing department, said: "Some patients have a large wound area and a long time for changing dressing. Manufacturers can customize the dressing for the patient's wound area, and the improvement of each link will bring more help to the patient. ”
The best treatment option for EB is gene therapy, which has multiple technical routes such as viral vectors and non-viral vectors. Shanghai Fosun, Beijing Zhongji Zhi pharmaceutical and other enterprises have participated. Li Ming, deputy director of the Department of Dermatology at Xinhua Hospital affiliated to Shanghai Jiao Tong University, mentioned that the development of gene sequencing has gradually given direction to the research of rare diseases.
Behind the seemingly cute names of "porcelain dolls, butterfly babies, moon children..." Are the unspeakable pain of rare disease patients and large family financial expenditures. In order to help rare disease patients and their families get out of difficulties, more and more social organizations, caring enterprises and other social forces have taken action, actively carried out various forms of cooperation, and explored long-term mechanisms for the rescue of rare disease patients. We also hope that with the development of medical technology, these rare diseases can no longer deprive them of the right to hope and happiness because of "rareness".
Bibliography:
CHENG Nan. Many NPC deputies and CPPCC members: "Rare diseases" should be seen[J]. China Social Organization, 2022(6):2.
Lü Chuanbin. Protective treatment instructions for "butterfly baby" at home[J]. Family Medicine: Second Half of The Month, 2016.
New Yellow River. Shandong's 112 most painful rare disease patients in shandong, "Butterfly Baby", are looking forward to "rebirth". Western Reviews, 20220317.
[4] The Paper. Short lives can also shine brightly! 7 months "Butterfly Baby" became the smallest body donor in Jiangsu. Government Affairs: organ donation of Chinese, 20220225.
[5] Butterfly Baby Care Center official website related popular science information: https://www.debra.org.cn