While we were talking to Natalia on the phone, in the background, she did not cease children’s voices and laughter. Natalia – banking analyst with a great experience, and the mother of three children, Misha, Masha and Sasha.
It is difficult to imagine that Misha, the eldest of the children, a rare diagnosis of Duchenne’s myodystrophy. The slightest sign of despondency or fear in the voice of Natalia is not. All because she and her husband Anatoly accepted the diagnosis and decided to move on. A full and happy life.
The story Misha became the basis for the Red Balloons that launched Mike’s mom and dad. Today Natalia, together with her husband help other parents survive this diagnosis. They give step by step instructions – what if your son has Duchenne’s myodystrophy. About why there were Red Balloons and how to make the diagnosis Lead. Medicine has shared Natalia Kislyuk.
Was the information vacuum
Mike was two and a half years old when his parents suspected something was wrong- the little child said. It turned out that the delayed psycho-speech development is the result of a rare diagnosis of Duchenne muscular dystrophy.
Duchenne muscular dystrophy, a progressive genetic disease, occurring in one out of 3500 boys. The cause of the disease in damage to the dystrophin gene (mutations of the DMD gene), where in the body does not produce a protein, which is manifested in the gradual weakening of all muscle groups.
The drug is not yet there. Mainly in boys older than 10 years lost the ability to walk without the aid of a wheelchair. Life expectancy in Russia is generally limited to 20-25 years, but now, during maintenance therapy, young men with Duchenne muscular dystrophy in other countries live up to 30-40 years, have the opportunity to study, work and travel. This level of life attainable in our country, believe in Red Balloons.
When in 2013 our son was diagnosed with Duchenne’s myodystrophy, the disease was virtually unknown recalled Kislyuk. The Internet was a dry excerpts from encyclopedias and medichenko, where it is written that the disease is progressive – denied hands and feet, and the child dies. There was neither funds nor psychological support, it was not clear where to go and what to do. This informational vacuum. My husband and I read a lot of articles in English, and I understand that in Europe it’s different.
For example, in Europe and America, a lot of parent communities. These organizations became the driving force for funding the work of pharmaceutical companies to create drugs that pass clinical trials. All over the world funded the work of scientists to create drugs, because all other components of maintenance therapy they have. We are all wrong. For example, in Russia experts who understand this disease, are concentrated only in Moscow. In Europe practically every town has a neuromuscular centers.
Then we felt the strength to break the information situation, and decided to create a project which formed our personal histories.
The main goal of the project is information and psychological support for parents, says Natalie. We try to give step by step instructions what to do. We have the coordinates of the doctors to whom you need to contact. And this is very important, because such specialists are few.
We were lucky, we went straight to Dr. Svetlana Artemieva Bronislavovna from NICKY Pediatrics. But in most cases it is not. Diagnosed the doctor-geneticist, and what to do with this diagnosis, he does not know. You need to consult a neurologist, he says. But to what exactly – does not know. Therefore, the search for a competent specialist is a very important step.
In the regions the situation is more complicated. Children are often prescribed manipulation that it is strictly contraindicated intramuscular injections, massages. So our first recommendation is to make an appointment to see a specialist to Moscow to consult with the city to cancel the treatment, which is prescribed by a local doctor.
Now the project is two years. On the website Red Balloons detail about the first signs of the disease, practical recommendations related to nutrition and physical therapy. The website also stated the contacts of the experts to whom to turn. And, of course, tells the story of Misha and his family.
Stage of adoption
Each month we drawn one or two families. Often people call on the stage when he learned about the diagnosis. They are in a state of shock, depression, crying, and just don’t understand how they continue to live. This point needs to survive – and the need to cry and to mourn. But you can’t stay in this condition for a long time. Otherwise you can lose everything – their personal lives, Hobbies, work, other children. Yes, it’s scary. Yes, it hurts. Clearly, none of the parents wants to know that his child will die in 20 years. But this is not necessary to think. Moreover, life expectancy is increasing, new drugs (in Europe patients with such a diagnosis live for up to 35-40 years).
You need to accept this diagnosis and move on. Especially when the child is small, it is necessary to live a normal life – to go to kindergarten and school, to meet friends, to travel, to have more children. It is necessary to treat the child’s condition, as required by the moment. Need help pathologists be engaged. The child is currently walking, so walk with him, but do not make pessimistic forecasts.
Each family has two ways to subjugate the whole of life, muscular dystrophy Duchenne or learn to live with it. We chose the second path. We adhere to the philosophy – we love life, life loves us.
Of course, the first time it was hard – there were tears, and fears, it was hard to go back to the idea of the disease. But the turning point came when we decided to create a project. Now we live with this disease for five years, and I can safely talk about it. I can help other parents, I do it. I am not forced, I just feel that way.
In General, psychological support is very important. Sometimes it helps to talk with a psychologist or just a close friend. To withdraw in any case not necessary.
Yes, the disease every day with us. Classes, stretching, pills. But all this has become as routine as brushing your teeth in the morning. Yes, the disease progresses. Misha became more difficult to walk, but from the point of view of mental development, the situation, on the contrary, improved.
Need a register of children with this disease
State aid is provided only if the child’s disability status. We received this status quite quickly. But, unfortunately, not all of it is as we had. If the child has a disability, you can count on the individual rehabilitation program (IRP). For example, you can obtain a wheelchair, orthopedic shoes. If disability is not present, all will have to buy for your account.
But the most important supportive therapy is a physical therapy and steroid drugs. And it’s complicated. Parents buy the medicines at their own expense, and centers and experts in fireability virtually no. Parents often know more than such experts. Although it’s nothing terrible. A physiotherapist can teach, the main thing – to have a place where you can practice.
Another 30% of boys with the same diagnosis of speech problems, so important work pathologists. Is the key to socialization. If you can register it in the individual rehabilitation program, it is possible to obtain the assistance of a speech pathologist for free.
There is a big problem with diagnosis of the disease. Often parents associate the first signs (for example, running not quick) of the disease with the nature of the child – someone active, someone less temperamental. And when the child is 5-6 years begins to fall for no apparent reason, or as in our case, when we are faced with speech delay, then the parents really start to worry and look for reasons. However, the doctors themselves are often unable to immediately diagnose.
There are two very important issues. The first is legalization of deflazacort, which is prescribed for maintaining “muscle strength”. He is considered the “gold standard” maintenance therapy is not only with myodystrophy Duchenne, but also other diseases. At the same time, it is inexpensive (10-20 Euro per pack).
Russia used its counterpart – prednisolone, which is outdated and has many side effects. Therefore, parents try all means to bring deflazacort from abroad, Russian doctors often do prescribe it.
In order for the drug were allowed, the required query from the community of parents or of the Fund. But then another question arises – in Russia there is no General register of patients (case-have Fund, for example, but it does not account for all patients with this diagnosis). But without Ledger, the pharmaceutical company will not come to the market, as they will not be able to appreciate it. Therefore, the register is a basic thing. For example, if there was a cure for Duchenne muscular dystrophy, and it will happen most likely in the West, without register to sell the drug in Russia will be impossible.