The main thing is to start on time
Gene therapy gives young patients with muscular atrophy a chance to survive
Yekaterina_t, Habr
Fifteen babies born in the United States with a diagnosis of "muscular atrophy" probably would not have been able to survive without a new experimental treatment. It made it possible to modify the genes of newly born little men.
The disease, whose exact name is spinal muscular atrophy (SMA), usually kills its victims before the age of two. And of course, babies with SMA without treatment have no chance to live to any conscious age. But thanks to the new method, the children did not just survive. They can talk and sit without support. Some of them are even able to walk.
All this has become possible thanks to the achievement of AveXis, which has developed a method of treating such patients. However, the main thing in this treatment is to get it in the first couple of months of life. Then everything may be useless.
The ideal option for treatment is to diagnose 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 anyone agrees to undergo a prenatal screening procedure. This is the name of a type of screening, a complex of medical studies (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 a generally accepted practice, but the procedure allows you to identify at least 34 deviations from normal development. Including atrophy. In America, about 400 people a year are born with this diagnosis.
According to doctors, this disease is treatable, so that children who are diagnosed before birth will be able to run, walk and play in the future. There may be some deviations from the norm, but if the treatment is started early, then all this can be solved.
The main cause of the disease is that a smaller amount of SMN protein is produced in the mother's womb, which leads to the loss of motor neurons. This is a genetic disease, as mentioned above.
Treatment for young patients who are diagnosed with spinal muscular atrophy after birth also exists. But this treatment consists of very expensive procedures that do not guarantee significant improvement, although they prolong the patient's life. The cost of treatment is $750000 in the first year and $375,000 annually after completing the basic course.
But the course developed by AveXis is a one–time course. And it only takes an hour for everything about everything. The treatment consists in the patient being injected with a modified virus that begins to produce healthy copies of the SMN1 gene. It is its lack that leads to problems with the human body. There will most likely not be a 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 child is sick in the womb and treat him immediately after birth. The cost of the procedure is from $ 110 to $150. Not thousands, but just dollars. Moreover, if there is insurance (we are talking about the USA), then its cost is covered by a number of insurance companies. And screening will also be covered by the insurance company if it is made publicly available. Its cost will add from 10 cents to a dollar to the total amount of the insurance payment.
Now a pilot project is being implemented in Massachusetts, and it has shown excellent results, because many parents learn about problems with the fetus even before the birth of a child. This means that there is time for treatment. But some genetic diseases do not manifest themselves immediately, but after six months, so parents may not even suspect anything. There are problems whose symptoms appear only from the age of 10, not earlier.
Whatever it was, but the early detection of medical problems and their prompt solution will save many lives. To do this, you only need to introduce a few new procedures into a mandatory medical examination – and not only in the United States, but also in other countries.
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