After getting the test form of the newborn child, the child's father could not believe his eyes. Congenital myocardial densification, congenital hip dysplasia, cryptorchidism, liver dysfunction.... So many conditions appear in this newborn at the same time. Obviously, the results of 18 obstetric examinations showed normal!
The child's mother is 43 years old, this time the second child. Why should an elderly woman take such a big risk and give birth to this child? In fact, it was because the first child suffered from nephroblastoma and was removed from his right kidney.
Health is the whole wish of this family. Out of this idea, and in order to have a companion for the first child in the future, Mr. Zhang's family decided to have another child. However, be sure to be healthy and healthy!
This time, just in case, the family had a total of 18 obstetric check-ups. Since the child's mother has no medical insurance, Mr. Zhang has also been doing prenatal examinations for his wife at his own expense. Ultrasound, dentistry, amniotic puncture, not falling down again and again.
Even on the day of the birth of the second child, the doctor personally wrote down a 10-point full score on the Ashi score scale!
So how did this happen? What disease is the child suffering from?
With grief and confusion, Mr. Zhang went to the Affiliated Hospital of Fudan University for further examination. Until the mystery is solved, the child has Prader-Willie syndrome.
18 obstetric examinations, can not find a disease?
At this time, since the cause of the disease can be found, why can't the disease be found in the first 18 obstetric examinations? Isn't that a joke! This family obviously can't withstand any blows!
It turns out that this disease, also known as Little Fat Willie syndrome, is a very rare neurodevelopmental disease. The mainland even lacks relevant epidemiological data!
In foreign countries, the incidence is about 1 in 10,000 to 30,000. It is very easy to miss and misdiagnose! Without a molecular genetic diagnosis, there is almost no way to diagnose a diagnosis.
It is precisely because of the loss of local areas of chromosome 15, or the abnormality of monoparental dichotomy, that sick newborns will have a variety of serious problems and a series of complications.
Ordinary obstetric examination, it is difficult to screen out the little fat Willie syndrome. Even with special testing methods, the detection rate of such rare diseases is still very low. What's more, ordinary people get ordinary obstetric reports that show no obvious abnormalities, and they will not think of screening for rare diseases.
There is no cure for life, and the misdiagnosis rate is extremely high
Faced with a couple on the verge of an emotional breakdown, doctors can hardly say: this rare disease cannot be cured for life.
Throughout your life, you have to face problems at different stages of growth.
Children with this disease will have multiple aspects of developmental disabilities, especially in terms of intelligence problems. Many children can speak normally, but the highest level of intelligence is generally only barely reaching the lower limit of the normal range. This is accompanied by emotional disorders and illness, and the suffering is unspeakable.
However, the current level of medical care at home and abroad cannot completely save the child. The approach that can be taken is lifelong monitoring and management, watching the treatment.
Mr. Zhang's children are diagnosed relatively early. Many children who also suffer from this rare disease are often misdiagnosed as cerebral palsy and so on. By the time it is discovered, the best time to intervene has been missed, and the situation may be more serious.
The disease that could not be detected in 18 obstetric examinations brought a fresh but weak life into this world. Mr. Zhang told the doctor that the family decided not to give up on the child, and to walk with him as long as they could.
Disease is merciless, and man has feelings. Hopefully, medicine will advance a little sooner to the day when more rare diseases can be treated!
Dr.X said
This is the truest example of what happened to an ordinary family. Many people think that 18 obstetric examinations should ensure the health and safety of their children. Unexpectedly, fate made a huge joke. At present, the level of medical care at the grass-roots level is uneven. Not only is it impossible to cure the disease, but it is even misdiagnosed. I hope that medicine can progress quickly, so that there will be fewer tragedies in the world.