Fifteen babies born in the United States with a diagnosis of muscular atrophy probably could not survive without a new experimental treatment. It allowed to modify the genes of the newly born little men.
A disease whose exact name is
spinal muscular atrophy (SMA) usually kills its victims before the age of two years. And of course, kids with SMA without treatment have no chance of living up to any conscious age. But thanks to the
new technique, the children did not just survive. They can talk and sit without support. Some of them can even walk.
All this was made possible by the achievement of AveXis, which developed a method for treating such patients. True, in this treatment the main thing is to get it in the first couple of months of life. Then everything may be useless.
The ideal treatment option is to diagnose the muscular atrophy of a patient who is still in the womb. Finding such a child literally means giving him life, there is no pathos here.
But usually young parents are limited to ultrasound, rarely agrees to undergo prenatal screening. So called a type of screening, a complex of medical research (laboratory, ultrasound), aimed at identifying a risk group for the development of fetal defects during pregnancy.
For example, in the United States, screening will not soon become common practice, and the procedure allows to detect at least 34 deviations from normal development. Including atrophy. In America, about 400 people are born with this diagnosis.
According to doctors, this disease is treatable, so that children who have been diagnosed before birth will be able to run, walk and play in the future. Any deviations from the norm may be, but if treatment is started early, then all this is solved.
The main cause of the disease is that in the child's womb, a smaller amount of SMN protein is produced, which leads to loss of motor neurons. This is a genetic disease, as mentioned above.
Treatment for young patients for whom spinal muscular atrophy was diagnosed after birth also exists. But this treatment consists of very expensive procedures that do not guarantee a significant improvement, although they prolong the life of the patient. The cost of treatment is $ 750,000 in the first year and $ 375,000 annually after completing the main course.
But the course developed by AveXis - one-time. And at all about everything you need only an hour. The cure is that the patient is injected with a modified virus, which begins to produce healthy copies of the SMN1 gene. It is his lack that leads to problems with the human body. Most likely, there will be no full recovery, but patients who have undergone treatment will be able to lead a normal life, go to school, work, even run, as mentioned above.
There are no problems in making the course publicly available. The main thing is to know that the baby is still sick in the womb and to treat it immediately after birth. The cost of the procedure is from $ 110 to $ 150. Not thousands, but just dollars. And if there is insurance (we are talking about the United States), then its cost is covered by a number of insurance companies. And the screening will also be covered by the insurance company, if you make it publicly available. Its cost will add from 10 cents to a dollar to the total amount of insurance payment.
Now the pilot project is being implemented in Massachusetts, and it has shown excellent results, because many parents will learn about the problems with the fetus even before the birth of the child. And that means - there is time for treatment. But some genetic diseases manifest themselves not immediately, but after six months, so that parents may even not suspect anything. There are problems whose symptoms appear only from 10 years old, not earlier.
Whatever it was, but early detection of medical problems and their prompt solution will save many lives. To do this, you just need to introduce several new procedures in the mandatory medical examination - and not only in the United States, but also in other countries.
