Doctor: My child’s lab results are back, can you see if there are any problems? This is a scene that a clinician hears and faces countless times every day, which should be very common, but for a certain group of patients, the feelings can be very mixed. Almost every day, as long as I sit in the consultation room, I have to repeat this confrontation. My mood is heavy with the parents’ depressed emotions, and I get a little relief and relaxation with the parents’ happiness, and this emotion has once affected the young doctors around me in their desire to have babies.
Phenylketonuria, a less catchy name, is also known as PKU, a disease that can only be diagnosed through screening of a drop of heel blood after birth, a disease that can only be treated with a special diet, a disease that requires a family to pay financially for the rest of their lives, a disease that will be missed as long as screening is not done, a disease that all families cannot face straight away for a long time This is the reason why some families pay a heavy price, such as “I have a high IQ, my family has been educated for generations, the hospital test results are questionable” and so on.
When Phenylketonuria is encountered with one family and countless families, how many of them can be strong enough to be fearless, not shed tears of pain, or even have their liver broken, and how much they hope the diagnosis is wrong! However, unfortunately, due to many reasons such as technical equipment, this disease could not be screened earlier, and even senior pediatricians are hardly aware of this disease, or at present, screening for newborn diseases is being promoted everywhere, but in conversations with mothers-to-be, there are still people who insist on not being screened, with the result that the vast majority of children become lucky, and a very small number of children go around because their development is increasingly inferior to that of their peers Even if they are finally diagnosed and insist on treatment, they miss the best time for treatment and are left with a lifelong brain disability.
Happily, newborn screening is receiving more and more attention from the government and administrative departments, and the screening process has evolved from informing and self-funding to the possibility of screening and incorporating into the medical insurance and medical care model, and the treatment of children diagnosed in the screening process has also evolved from self-funding to charity assistance for poor families.
Shaanxi Provincial Maternal and Child Health Hospital has been carrying out disease screening since 2001, and is the first screening center in the province approved by the Ministry of Health, with mature screening technology and standardized treatment management, and the screening technology has been expanded from basic four-disease screening to tandem mass spectrometry screening for 29 genetic metabolic diseases, and a drop of heel blood three days after the child’s birth can help solve the worries.
According to statistics, the national incidence rate of phenylketonuria is 1/11000, and the incidence rate in our province is 1/7300, which is higher than the national level, and the northern west is higher than the southern region. We can’t underestimate this incidence rate, the burden of a disabled child to the family and society is heavy, only with its survival for 40 years, it will consume more than 700,000 yuan for the family and society. Only with early diagnosis and long-term standardized treatment, these people can attend nursery school and university and contribute to society like normal children.
Once the diagnosis of phenylketonuria is confirmed, we should not lose the opportunity to treat it as early as possible in accordance with the norms. This is why the lively and lovely children in the clinic and the teary-eyed parents are in stark contrast, and a cold patient can be seen in five minutes and ten minutes, but with phenylketonuria, it takes thirty minutes, an hour and two hours, and many times after that, too much must be understood, or all the work will be lost.
Of course, the truth is far from the description of people so desperate, confidence is the greatest motivation to overcome the disease, as long as the treatment of doctors, nutritionists, parents work closely together, the treatment of food is more and more rich, to overcome the disease must not be a problem, look at those who have gone to college, junior high school, elementary school, kindergarten smart and lovely children, look at their painting, dance, report card, etc., the Internet phenylketonuria friendship group As mothers and fathers, all we have to do is to provide our children with the opportunity to be screened for the disease, and to give your newborn baby the screening for the disease as the first gift, and we will be waiting for you!