The mother of a terminally ill child spoke about her tragedy: a rare diagnosis

In this age of medical miracle technologies, it seems that incurable diseases should not exist. Especially in children. However, the disease that was discovered in little Salim from the Republic of Tatarstan cannot be overcome even by the most modern medicines and methods in the world. Salim Milyausha’s mother told MK the story of his illness and where she draws strength from, knowing that her son has only a few years left to live …

The Mukhametzyanov family, Milyausha, Rustem and their two children live in Zelenodolsk, 35 km from Kazan. The younger Salim, who is 2.5 years old, is diagnosed with gangliosidosis. Rare genetic disease. It is the only one of its kind in the whole of Tatarstan.

Salim was born completely healthy, in the first months of life he even outstripped his older brother in development. He used to hold his head, roll over… He was an active child. The parents began to notice something was wrong at about six months. By this age, children begin to crawl, but Salim did not succeed.

– When we took him in our arms, we began to notice that he seemed to become softer in body. Usually children are worn in a “column”, but he did not hold on … Doctors told us: do massages and everything will be normal. We did massages. We went to osteopaths, to neurologists – everyone said that everything was fine. The doctors said: Mommy, drink magnesium, calm down, stop looking for sores.

When Salim was about to turn one year old, his parents went with him to a speech therapist to develop the muscles of his face and mouth. And once a speech therapist advised to conduct a study called sequencing (determining the sequence of nucleotides in DNA).

Three months later, the result came, showing breakdowns in the gene. Salim was brought to Moscow for examination, and the geneticist, having deciphered the analysis, said: “Not everything is so good here…”.

– We were diagnosed with an infantile form of gangliosidosis, the first type. Soon he began to have strong “kickbacks” in development. He completely stopped holding his head. I stopped rolling over, grouping, taking toys. Now Salim can’t do anything… In this type of disease, doctors give a life span of three to five years.

Parents were looking for any methods of treatment – for example, they learned that there is a special clinic in Spain. But we received an answer from there that everything is only at the stage of experiments with such children. At the same time, they cannot cure such children in any case, but can only slightly slow down the development of the disease. We also applied to many other clinics – to no avail.

What is Salim’s condition now?

“I try to make his life as easy as possible. If he bends, then at a certain position of the body he can no longer breathe, he must be constantly seated so that his lungs open. He does not eat through his mouth, his muscles are atrophied – there is a gastrostomy in his tummy for nutrition. He needs a special chair, a special wheelchair. Salim doesn’t hold his body at all.

– Have you found families with the same kids as Salim?

– I am a member of a thematic group on WhatsApp, so far there have been 19 such children in Russia. This group has become another family for us… Communication with mothers from this group has made our life easier. We share tips on what equipment, what special devices can make life easier for our children…

“At the same time, you know that the child will most likely leave you in a few years …

– We talk a lot about this topic with other mothers of such children, and now I don’t guess what will happen in a year or two, I am in this time here and now. Now Salimchik is with me, and he needs me like a mother. We live with him as if he were a normal child. We all love him very much, our whole family – grandparents, and his dad, and brother … I accepted this situation that we are the parents of such a child. I don’t cry all the time at night, I live a normal life, the only difference is that I’m taking care of a disabled child. Yes, it happens that it “covers” when it is especially difficult, but you cry, talk with your husband – and it becomes easier. As long as the son is destined to live, as long as we will be with him. This is our child. He is with us forever.

Geneticist, member of the Russian Association of Human Reproduction Ekaterina Yushina She made us aware of this rare disease.

– Gangliosidoses are hereditary diseases – the development of clinical symptoms is due to a defect or lack of a certain enzyme, which leads to the accumulation of substances (which must be processed by the enzyme) mainly in the nerve cells of the central and peripheral nervous system. Patients with an early form of the disease in most cases, alas, die in the first 2 years of life (infantile form) or under the age of 15 years (juvenile form) from concomitant infectious diseases.

The development of this disease requires the presence of two mutations (one from the mother, the second from the father), respectively, both parents of this child are healthy carriers of gangliosidosis. In such a couple, in each pregnancy, the risk of having a child with this diagnosis is 25%, and therefore they need to consult a geneticist when planning subsequent pregnancies.

Unfortunately, at present, as for most hereditary genetic diseases, no such therapy has been developed for gangliosidosis that would affect the cause of the disease – the existing mutation in every cell of the body of such a patient. Several therapeutic approaches are being considered for treatment, but the only treatment currently used is symptomatic.

– What research will help reduce the risk of having children with genetic diseases?

– Since many genetic diseases are not reflected in routine fetal ultrasound during pregnancy, the best way to treat genetic diseases is to prevent the risks of having children with such diseases through preconception screening. That is, to check future parents for the carriage of various mutations before the conception of a child. Absolutely everyone, even healthy people who do not have a burdened hereditary history, are recommended a certain minimum of genetic tests that must be passed before conceiving a child. The doctor will ask you in detail about everything he needs to know in order to prescribe the study that is right for you.