The eldest son has a genetic disease, and the mother is anxiously waiting for the test results of the second child in the womb...

time:2022-12-09 author:Sneeze
The eldest son has a genetic disease, and the mother is anxiously waiting for the test results of the second child in the womb...

*For reference only for medical professionals

Autosomal recessive genetic disease, there is a 1/4 chance of the disease in the unborn baby

The next two weeks will be very important for Lin Shuang, she She has to wait for a result. Although there is a 3/4 probability, the result is good, but she is still very uneasy. Not long ago, Lin Shuang found out that she was 17 weeks pregnant. Because both husband and wife carry the recessive gene for phenylketonuria, which means that the baby in the womb has a 1/4 chance of being affected. "Your child is special" Lin Shuang's eldest son Xiaohui, who is 5 years old this year, was diagnosed with phenylketonuria, a rare genetic disease after birth. Xiaohui looks normal, and his height and weight are similar to those of the same age. But Lin Shuang knew that his son was very special. Xiaohui couldn't eat the rice and noodles that ordinary people eat. He could only eat special milk powder and protein powder. Due to the mutation of the phenylalanine hydroxylase (PAH) gene, Xiaohui lacks PAH in his body, so that phenylalanine cannot be converted into tyrosine (Tyr), the synthesis of tyrosine and other normal metabolites is reduced, and the blood The increase of Phe content in the central nervous system affects the development of the central nervous system. This special dietary treatment will accompany Xiaohui for life. Once interrupted, symptoms such as cognitive developmental impairment, microcephaly, and seizures will appear. Once symptoms appear, they are irreversible. Recently, Lin Shuang found that Xiaohui was particularly naughty, and she began to worry. According to the latest "Guidelines for the Diagnosis and Treatment of Rare Diseases" issued in 2019, the clinical manifestations of phenylketonuria include the manifestation of "hyperactivity". She is afraid that it is because of errors in her son's diet or treatment. After Xiaohui was born, Lin Shuang went from his hometown Wafangdian to a hospital in Dalian to see a doctor every week to monitor whether Xiaohui's food exceeded his body's load. Each round trip took three hours. Xiaohui needs someone to take care of her, and Lin Shuang cannot work. And special milk powder, protein powder cost is not low, two or three thousand yuan a month. Lin Shuang and her husband are under great financial pressure and are also living under enormous psychological pressure. "We don't want to let others know about (the child's illness), and may discriminate against the child," Lin Shuang said choked up. When Xiaohui wants to go to kindergarten, the family is very worried. There is a large kindergarten nearby, Xiaohui really wants to go, but because the kindergarten requires lunch in the kindergarten, Xiaohui's diet is special, "The kindergarten is afraid of taking responsibility and takes out Lunch is not allowed, so I finally had no choice but to send my child to the countryside." Lin Shuang said that when communicating with the principal, he was most afraid of hearing the words "your child is special". "As parents, no one can understand our psychological pressure, especially as mothers." Lin Shuang hopes that rare disease groups can get more attention from the society. Probability Because of the 1/4 probability and heavy financial burden, Lin Shuang never thought of having a second child. She voluntarily gave up one three years ago. When she found out she was pregnant this time, it was already 17 weeks. She couldn't bear it and decided to give herself and her child a chance. Hospitals in Dalian have limited conditions for diagnosis and treatment, so Lin Shuang's family came to Shanghai. At Xinhua Hospital Affiliated to Shanghai Jiaotong University, Lin Shuang caught up with the free rare disease diagnosis on February 28. Doctors from the Obstetrics and Gynecology, Pediatric Endocrine Genetics and Clinical Genetics Center gave suggestions that Lin Shuang needs to complete the prenatal diagnosis as soon as possible. Xinhua Hospital has a complete prenatal diagnosis process. Within two days, under the guidance of the doctor, the family completed blood collection, and Lin Shuang performed amniocentesis. Blood collection is to find the mutated gene through genetic testing, and amniocentesis is to detect whether the baby in the belly has the same mutation. For phenylketonuria, prenatal diagnosis is not difficult. According to the "medical community", Xinhua Hospital currently has the ability to diagnose 150 kinds of single-gene genetic diseases before birth, and the multidisciplinary team of prenatal diagnosis completes the diagnosis and treatment of nearly 700 difficult patients every year. How important is prenatal intervention for genetic diseases? Ji Xing, a doctor at the Clinical Genetics Center, took spinal muscular atrophy (an autosomal recessive disease) as an example: the incidence of this disease is 1/10,000, but in 2010, the team from Xinhua Hospital conducted a thorough investigation in Shanghai. According to the survey, the gene carrier rate among 2000 pregnant women is 1/40. "Internationally speaking, it is 1/40 to 1/60, which is a very high probability. The American Medical Genetics Association and the Obstetrics and Gynecology Association recommend this disease as a routine screening before pregnancy." Ji Xing said. Screening is not difficult. "A simple blood test can detect who is a carrier, with a very high accuracy, and the test only takes a few days. Spinal muscular atrophy can be fully referenced to the maturity of Down syndrome prevention. model." said Professor Chen Yingwei, Executive Director of the Clinical Genetics Center. Rare disease prevention and treatment system There are more than 100,000 children with phenylketonuria like Xiaohui in my country, with an average incidence rate of 1/11,800. In the long-term follow-up system of Xinhua Hospital, there are 4,300 such patients. Since becoming the only rare disease diagnosis and treatment center in Shanghai in 2018, and becoming the first provincial-level leading unit of the national rare disease diagnosis and treatment collaboration network in 2019, Xinhua Hospital has been exploring the whole chain of prevention and treatment system. "From pre-pregnancy screening, standardized diagnosis and treatment in childhood to multidisciplinary intervention in the event of complications, Xinhua Hospital has explored some experience." said Pan Shuming, vice president of the hospital. A very pressing question before us is, how to solve the problem that rare diseases are more rare than rare diseases? In fact, rare diseases exist in various departments, and many complications of rare diseases touch various disciplines. Specialists can become rare disease doctors. But if you let them fight alone, it will be extremely difficult to change. "It can only be achieved in a medical institution with highly integrated medical resources. Multidisciplinary participation in rare diseases must have a complete guarantee mechanism and capability." Pan Shuming said. But the work is really difficult, because we must first coordinate with the doctors and departments of the hospital. Xinhua Hospital has been building platforms for the past year—from testing, diagnosis and treatment to management. Lin Fujun, Deputy Chief Physician of the Department of Nephrology, also serves as the secretary of the Rare Disease Diagnosis and Treatment Center, and she has participated in a lot of coordination work. There are bound to be problems in the process of "getting through", but a lot of experience has been accumulated. Spinal muscular atrophy is a successful case. Xinhua Hospital has established a multidisciplinary treatment (neurological, skeletal, digestive, Rehabilitation) - a multidisciplinary prevention and treatment system involving clinical research and new therapy development, which is an advanced model of rare disease diagnosis and treatment. Lin Fujun believes that for rare diseases, this is the fastest year for the hospital's work, which she describes as "a year of combined boxing". Since the publication of the "First Batch of Rare Disease Catalog" in June 2018, the National Health and Medical Commission has issued the "Notice on Establishing a National Collaborative Network for Rare Disease Diagnosis and Treatment". From March 1, 2019, the first batch of 21 rare disease drugs and Four APIs, with reference to anti-cancer drugs, reduce the value-added tax by 3% on the import link... "It may push rare diseases to a position comparable to that of tumors. The national policy has been releasing this information." Lin Fujun said. A stone in Lin Shuang's heart also fell. She learned from the doctors at Xinhua Hospital that as long as Xiaohui started standard treatment from childhood, her quality of life would be quite impressive. Now she prays that she will be the lucky 3/4 and have a healthy baby. (Lin Shuang and Xiaohui are pseudonyms in the article) Source of this article: Medical community Author of this article: Zhu Xueqi Editor in charge: Xiang Yu All the pediatric clinical knowledge doctor station apps you want to see 👇 1. Scan the QR code below 2. Click "Immediately" Download "Download the Doctor Station App, and subscribe anytime, anywhere~ Copyright statement This article is reprinted and welcome to forward it to Moments - End - The medical community strives to be accurate and reliable when the published content is approved, but it does not regard the timeliness of the published content and the quotations. We make any promises and guarantees for the accuracy and completeness of the information (if any), and do not assume any responsibility for the outdated content, possible inaccuracy or incompleteness of the cited information, etc. Relevant parties are requested to check separately when adopting or using it as a basis for decision-making.
Related content