5, newborns are tested positive for genetic diseases. What happened when most parents lost contact?

It has been six and a half months since the launch of "48 neonatal genetic diseases screening" in Wuhan. So far, 62,172 newborns have been screened, of which 4,955 were suspected to be positive at the initial screening, but it is extremely difficult to inform these children to come for re-examination. Yesterday (17th), the reporter learned from Wuhan Neonatal Disease Screening Center that more than half of the parents of children were either worried that it was a scam or took it lightly after receiving the text messages and phone calls for follow-up, and the follow-up rate was extremely low. The center made more than 2, phone calls and sent more than 9, text messages, and finally "recovered" more than 4,2 suspected children.

On November 1st last year, Wuhan launched "48 screening programs for neonatal genetic diseases", 43 of which were paid by the government. Every baby born in Han can be screened by taking blood from the heel 72 hours after birth, and the test results will be obtained in about one month. If a suspected object is found, parents will be asked to take their children to the center or any hospital for review by SMS and telephone. "If treated quickly, these children can be like normal children in the future, and once they miss the golden dry expectation of being born for 3 months, their intelligence and growth and development will be irreversibly damaged." Li Ruizhen, director of Wuhan Neonatal Disease Screening Center, said that it is a heavy responsibility for every staff member to recover every child as much as possible.

"It's either a harassing phone call or a scam phone call, and many parents don't know anything about these genetic and metabolic diseases." Head nurse Wei Wenqiong, who is in charge of data statistics, said that when sending SMS notifications, she would also receive wonderful replies such as "Your father is sick" and "Fuck you".

"We can't bear to see a child with a genetic disease miss treatment." Since November 2 last year, 1 nurses in the center have finished their work and used their spare time and rest time at night to call the parents of children. Wei Wenqiong made a request at that time: each nurse was responsible for 3 children. On average, it is estimated that each child needs to make at least 3-4 phone calls, and it is also common to make 7-8 phone calls before contacting parents. The intensive telephone campaign continued until March this year, and * * * made more than 1, calls. Since April, the center has sent Wei Wenqiong and two nurses to take charge of this work. The two nurses have to make more than 8 calls a day on average, so that the second phase has made more than 1, calls so far. At the same time, the center also opened a short message reminder service.

Ms. Li in Qiaokou District received a follow-up call from the center when her son was just full moon. She always thought it was a fraudulent call and ignored it. It was not until she received the sixth phone call and the second text message, and after a delay of one month, she took her child to the center for examination and was diagnosed with hyperphenylalanine, so that she could be treated in time.

Yesterday (17th), the reporter saw 1 thick "New Screening Follow-up Record Books" in the center, which not only recorded basic items such as name, delivery hospital and birth date, but also recorded the caller's name, dial-out date, times, receiver, reasons for not answering, and parents' reply. At the same time, all these information were entered into the information management platform of neonatal genetic disease screening in Wuhan. Screening data show that more than 1% of the more than 4,2 suspected children who were "recovered" were finally diagnosed, which is basically the same as the relevant national data.

Six phone calls were "a series of reminders"

I thought it was a new trick to cheat people. My mother was dubious and found a rare disease after re-examination.

"I have been shut out for six months, and I was often called a liar on the phone." Wei Wenqiong, the head nurse of Wuhan Neonatal Disease Screening Center, is full of grievances, but as long as the parents of the children finally agree to review, she will feel gratified whether there is no problem or receive treatment in time after diagnosis.

Good Baby Detects Rare Genetic Disease

Ms. Li, 28, lives in Qiaokou and gave birth to her son in tongji hospital, Wuhan three months ago. Shortly after the baby was just over a month old, she received a short message from a strange number on her mobile phone: "Dear Li xx of Wuhan Children's Hospital, your boy's neonatal disease screening results are suspicious and positive, please go to the hospital as soon as possible. For detailed results, please refer to the screening section of neonatal diseases in official website. Please reply 1 when you receive it. " Looking at her clever son in her arms, Ms. Li instinctively thought that this was a scam message and ignored it.

Three days later, she received a phone call claiming to be the neonatal disease screening center of Wuhan Children's Hospital. "I was born in Tongji, and how did the children's hospital have my phone number? It must be a new trick of the liar." After that, as long as Ms. Li sees this call, she will directly disconnect it.

In a blink of an eye, my son will be 2 months old. While sorting out the birth-related certificates and preparing to give him a name, Ms. Li found a green booklet with the words "neonatal disease screening certificate". Remembering the two text messages and six phone calls she received before, she rushed to Wuhan Neonatal Disease Screening Center with her son in her arms, and it was really true. After re-screening, the baby was diagnosed as rare hyperphenylalaninemia, and there would be no sequelae after timely intervention.

unbelief and impropriety are the main reasons for rejection

"unbelief and impropriety are the main reasons for rejection." Wei Wenqiong believes that many parents don't understand and care about what heel blood is looking for. A considerable number of people see the phone number starting with "59" and instinctively think it is a fraudulent phone call.

For babies born in other hospitals, parents often have doubts about the channels through which screening centers learn their information sources. Wei Wenqiong explained that all children born in regular medical institutions in Wuhan will be sent to Wuhan Neonatal Disease Screening Center for testing after heel blood is taken. On this monitoring platform, the center staff can clearly see the detailed information of everyone.

Liu Lu, a nurse, is the telephone specialist of "Neonatal Disease Screening", and she didn't take up her post until early March. In addition to texting and calling suspected children every day, she also undertakes the guidance work. At 11: 3 noon today (17th), there were fewer children. She told reporters with a hoarse voice that for children who were suspected to be positive in the initial screening, they would first send a text message to inform them. If the children had not come to the door for re-examination three days later, they would call to inform them that it is rare to call the same phone three times, but it is common to call eight times ten times.

"A person has to talk for at least 2-3 minutes, and 8 calls are made every day, and his throat hurts like a fire." The reporter opened the phone book. On March 23rd, Liu Lu called 18 people. She said with a wry smile that it would be good to be able to catch up with three calls, and the girl who came with her at the same time has changed jobs. The physical discomfort can be tolerated. What makes her feel most uncomfortable is that some parents clearly know what disease their children have, but they don't take it seriously.

A week ago, Liu Lu called the parents of a child suspected of "thalassemia". The child's father told her on the phone that the child's mother had "poverty". He checked "no need for treatment" on the Internet and quickly hung up the phone. No matter how Liu Lu called, he no longer answered the phone. That careless tone made Liu Lou feel sad for the child for a long time.

Some parents finally persuaded them to come back with their children. As soon as the doctor told them to draw blood, they immediately took their children away again, unable to hold them back.

15% of parents of suspected children lost contact

The reporter saw in Wei Wenqiong's office that the electronic management platform not only recorded the total number of screenings, the number of people recalled and the proportion of recalls each month, but also recorded in detail the reasons for not recalling, including downtime, wrong number, empty number, informed of the future, unable to connect, refused to visit, shutdown, etc., as well as solutions. In her office, there are still 1 "new screening follow-up notebooks", each of which is more than 4 pages thick. The number of calls, date, receiver, patient's reply and caller are marked in detail.

Wei Wenqiong said helplessly that if the wrong number is empty, the staff can only contact the hospital where the baby was born. Regrettably, 15% of parents have lost contact so far.

Li Ruizhen, director of the center who has been engaged in genetic and metabolic diseases for 27 years, is well aware of the harm caused by these rare genetic and metabolic diseases to children. Ten years ago, a father of Hanchuan found her with his 6-year-old son, hoping to help him grow up. The boy is wide apart, with a flat nose, thick lips and rough skin. He is shorter than normal children by more than one head. Li Ruizhen recognized this child with congenital hypothyroidism at a glance, and the examination results confirmed her inference. Because it came too late, the child's intellectual damage could not be reversed, and the previously lost height could not be recovered.

Six years ago, this father found Li Ruizhen again with his newborn daughter in his arms. The screening results of neonatal diseases showed that the daughter also suffered from congenital hypothyroidism, and began to supplement thyrotropin from the 2 th day of birth. The girl's height was above average in the class, and her grades were also top in the class.

"Two children in a family have different fates because of different intervention time." Li Ruizhen said worriedly that children with hereditary metabolic diseases are often the same as normal children when they are born, and they can't see anything special. It will take months or even years for parents to discover the difference of their children. At this time, they have caused irreversible damage to their intelligence and development, and doctors can't do anything about it.

Come to the hospital as soon as possible after the full moon.

Li Ruizhen told the reporter that among the genetic metabolic diseases with the highest incidence, congenital hypothyroidism and phenylketonuria will not only affect physical development, but also affect intellectual development. Severe thalassemia and bean disease can even be life-threatening. In children with congenital adrenal hyperplasia, the harmful metabolites will cause brain damage through the blood-brain barrier.

"Fortunately, there are interventions and treatments for these diseases at present. The key is to catch up early." She explained that children with hypothyroidism can be the same as normal children only by supplementing thyroxine, while children with bean disease will be fine if they don't touch broad beans and broad bean products, and 9% of children with mild to moderate thalassemia only need regular review.

Li Ruizhen reminded that all newborns born in Wuhan should actively cooperate with the medical staff in the delivery hospital to take blood samples from their heels, leave accurate contact numbers and addresses, and keep the informed consent form. Usually, the results of neonatal disease screening will come out in about a month. Parents can make online inquiries, and the center will notify them by SMS and telephone after the results come out. After receiving the SMS notification of follow-up, please ask parents to take their baby to the neonatal disease screening center of Wuhan Children's Hospital on the sixth floor of the outpatient clinic for re-examination and diagnosis, and get timely treatment as soon as possible.