Help Emir recover from a deadly disease.
Donation protected
Dear friends,
My son Emir urgently needs help to overcome the fatal disease, Spinal Muscular Atrophy Type 2 (SMA-2). This is a genetic disease that leads to atrophy of all muscles, and every day we see that he gets worse, this disease makes him powerless, he loses the ability to move and over time this will lead to the fact that he will not be able to eat, swallow, breathe himself, and in the end eventually his heart will stop. Now we support him in every possible way, exercise physically and give vitamins to buy more time, and have time to save him. Time is short, we need to act now.
Please help me save my son!
This is our story.
My wife is a wonderful and intelligent young girl, when we conceived a child, she graduated from the Medical University, her knowledge and experience formed the basis for a successful and healthy pregnancy. Proper nutrition, vitamins, compliance with all medical indications, caring for a baby in the womb, and much more. As a result, perfect pregnancy, perfect childbirth. Weight 3.5 kg height 55 cm, good average, and positive forecasts of obstetricians and doctors. What else could we dream of then, if not about a healthy child.
The emir grew and developed to our delight, rewarding our efforts to care for him with new skills and emotions, he began to hold his head on time, turned over on his own from side to side, from 6 months he began to sit, from 7.5 he learned to crawl on his bellies, with I stood on all fours for 11 months, and at 1 year I stood at the support and took my first steps along the table or sofa. I could not speak fully, but I already knew 20-30 words, from time to time he chatted to us about things in which we clearly did not understand =).
I was far from medicine and understanding the norms of child development, knowing only in general terms when and what should happen. The wife, on the other hand, already understood that something was wrong, looked for information in every possible way, compared and analyzed, she knew that everything had reasons and explanations, the Emir was lagging behind in development, he had to start walking. We needed a doctor's consultation. The thorny path of painstaking searches for the reason because of which the Emir could not fully crawl on all fours and walk began began.
At the age of 1 year and 1 month, we noticed that Emir became weaker, tired quickly and moved less. After 2 weeks, he stopped standing at the support and even more so walking, he stopped crawling, all he could do was sit and lie. This alarmed us in earnest. By that time, we had already seen local doctors, but they assured us that this was a temporary phenomenon, and prescribed massage therapies for us. We did not stop there and continued looking for the reason. After a while, we were diagnosed with AIDP-Acute inflammatory demyelinating polyradiculoneuropathy, which is also a very serious and dangerous disease that can lead to the death of Emir, and the treatment of which does not cost little money, although we were afraid and worried, we realized that we could cope with it ... We were reassured that it was being treated, and we were glad that the State provides medicine for treatment free of charge and in full. With the necessary drugs, Emir underwent a 1.5 month course of treatment.
But, unfortunately, the treatment did not give results, and the diagnosis subsequently turned out to be erroneous, after which we were prescribed several more tests and sent us to the capital of our country, Nur-Sultan, where the Emir and his Spouse went to the National Scientific Center for Motherhood and Childhood, where for 2 days ago we were diagnosed with type 2 SMA. A month later, we received confirmation in the form of a genetic analysis for SMA and the number of copies of SMN1 / SMN2.
We were terrified. By the time the Emir and his Wife went to the Center for Motherhood and Childhood, we already knew about the existence of this disease and its consequences. We prayed that it would not be SMA, but it could not be avoided.
SMA is a genetic disease that can be inherited or cause an accidental mutation in the human genome, it leads to a gradual atrophy of all muscles of the body, which in turn leads not only to paralysis, but also to the failure of the respiratory and digestive organs and the cardiovascular system. As children diagnosed with SMA-2, they do not live up to 5 years without treatment.
In the human genome there is a section of the SMN gene, which is responsible for the production of a special protein for the survival of motor neurons, the very nerve cells that give a signal to muscles from the brain. Due to the lack of essential proteins for nerve cells, they die very quickly, which leads to gradual death.
After a long week of tears and bitterness, we still pulled ourselves together and began to look for a way to save our son. And as it turned out he is. This is a gene therapy drug called Zolgensma. This drug is produced in the USA, it became the record holder for the title of the most expensive drug. Its price is on average from 2.3 to 2.9 million dollars. Unfortunately, our state does not support children with such a diagnosis, it does not purchase or register this drug. And indeed not one of the existing drugs. Further, in the process of searching for a treatment for Emir, we learned that there is more than one drug in the world, today there are 3 well-known drugs. Zolgensma, Spinraza, Risdiplam.
Zolgensma is a gene therapy, its advantage is that it only takes one infusion (injection) for a lifetime. Next comes the process of rehabilitation and restoration of lost skills. That is why we chose it. However, Zolgensma has its own treatment conditions. If you receive treatment in the United States, then the child should be no more than 2 years old, and Emir is currently 1 year and 7 months old. If they receive treatment in Europe, they have no age restrictions, but there is a weight restriction, the child must weigh no more than 13.5 kg. Therefore, we are very limited in time.
If we consider Spinraza and Risdiplam, then these drugs need to be taken throughout life on a regular basis, but the price for them per year ranges from $ 125,000 to $ 700,000, which adds up to huge costs. We would gladly agree to accept them if the state provided them, but this is not happening. In Kazakhstan, more than one child has not yet received any of the existing medicines; children simply continue to die. Nevertheless, we do not give up and continue to ask the government for help, organizing actions and protests, filling out endless forms and letters to get what not only my son, but also every child in need of treatment should have.
After collecting all the necessary information and thinking it over carefully, we started a fundraising campaign for the purchase of Zolgensma, with a team of caring volunteers and charitable foundations. We turn to the media, stars and bloggers, every day more and more people learn about us. My wife and I, we will do everything to save our son, and we will not stop until we achieve the desired results.
The Emir already knows that he is different from other children. He watches them run around the playground but cannot join them. He just sits in his wheelchair. Every day, with tears in his eyes, he undergoes painful rehab procedures to support his muscles. The emir deserves a life!
We live in constant anxiety and fear, but I have great hopes and dreams that my son will walk, run and be happy. He just started his life. Please help Emir soon! With every donation of any size, my son is getting closer and closer to health. And he needs your help right now, before it's too late.
Together we can give Emir a chance!
Please note that our country, Kazakhstan, is not currently supported by GoFundMe. Our family friend, Shawn Serikov, lives in the United States. Once the fundraising campaign is complete, he will request the funds from GoFundMe and wire the entire amount to our account in Kazakhstan.
Основной аккаунт на русском языке:
https://www.instagram.com/emir_sma_aksay/
https://taplink.cc/emir_sma_aksay
My son Emir urgently needs help to overcome the fatal disease, Spinal Muscular Atrophy Type 2 (SMA-2). This is a genetic disease that leads to atrophy of all muscles, and every day we see that he gets worse, this disease makes him powerless, he loses the ability to move and over time this will lead to the fact that he will not be able to eat, swallow, breathe himself, and in the end eventually his heart will stop. Now we support him in every possible way, exercise physically and give vitamins to buy more time, and have time to save him. Time is short, we need to act now.
Please help me save my son!
This is our story.
My wife is a wonderful and intelligent young girl, when we conceived a child, she graduated from the Medical University, her knowledge and experience formed the basis for a successful and healthy pregnancy. Proper nutrition, vitamins, compliance with all medical indications, caring for a baby in the womb, and much more. As a result, perfect pregnancy, perfect childbirth. Weight 3.5 kg height 55 cm, good average, and positive forecasts of obstetricians and doctors. What else could we dream of then, if not about a healthy child.
The emir grew and developed to our delight, rewarding our efforts to care for him with new skills and emotions, he began to hold his head on time, turned over on his own from side to side, from 6 months he began to sit, from 7.5 he learned to crawl on his bellies, with I stood on all fours for 11 months, and at 1 year I stood at the support and took my first steps along the table or sofa. I could not speak fully, but I already knew 20-30 words, from time to time he chatted to us about things in which we clearly did not understand =).
I was far from medicine and understanding the norms of child development, knowing only in general terms when and what should happen. The wife, on the other hand, already understood that something was wrong, looked for information in every possible way, compared and analyzed, she knew that everything had reasons and explanations, the Emir was lagging behind in development, he had to start walking. We needed a doctor's consultation. The thorny path of painstaking searches for the reason because of which the Emir could not fully crawl on all fours and walk began began.
At the age of 1 year and 1 month, we noticed that Emir became weaker, tired quickly and moved less. After 2 weeks, he stopped standing at the support and even more so walking, he stopped crawling, all he could do was sit and lie. This alarmed us in earnest. By that time, we had already seen local doctors, but they assured us that this was a temporary phenomenon, and prescribed massage therapies for us. We did not stop there and continued looking for the reason. After a while, we were diagnosed with AIDP-Acute inflammatory demyelinating polyradiculoneuropathy, which is also a very serious and dangerous disease that can lead to the death of Emir, and the treatment of which does not cost little money, although we were afraid and worried, we realized that we could cope with it ... We were reassured that it was being treated, and we were glad that the State provides medicine for treatment free of charge and in full. With the necessary drugs, Emir underwent a 1.5 month course of treatment.
But, unfortunately, the treatment did not give results, and the diagnosis subsequently turned out to be erroneous, after which we were prescribed several more tests and sent us to the capital of our country, Nur-Sultan, where the Emir and his Spouse went to the National Scientific Center for Motherhood and Childhood, where for 2 days ago we were diagnosed with type 2 SMA. A month later, we received confirmation in the form of a genetic analysis for SMA and the number of copies of SMN1 / SMN2.
We were terrified. By the time the Emir and his Wife went to the Center for Motherhood and Childhood, we already knew about the existence of this disease and its consequences. We prayed that it would not be SMA, but it could not be avoided.
SMA is a genetic disease that can be inherited or cause an accidental mutation in the human genome, it leads to a gradual atrophy of all muscles of the body, which in turn leads not only to paralysis, but also to the failure of the respiratory and digestive organs and the cardiovascular system. As children diagnosed with SMA-2, they do not live up to 5 years without treatment.
In the human genome there is a section of the SMN gene, which is responsible for the production of a special protein for the survival of motor neurons, the very nerve cells that give a signal to muscles from the brain. Due to the lack of essential proteins for nerve cells, they die very quickly, which leads to gradual death.
After a long week of tears and bitterness, we still pulled ourselves together and began to look for a way to save our son. And as it turned out he is. This is a gene therapy drug called Zolgensma. This drug is produced in the USA, it became the record holder for the title of the most expensive drug. Its price is on average from 2.3 to 2.9 million dollars. Unfortunately, our state does not support children with such a diagnosis, it does not purchase or register this drug. And indeed not one of the existing drugs. Further, in the process of searching for a treatment for Emir, we learned that there is more than one drug in the world, today there are 3 well-known drugs. Zolgensma, Spinraza, Risdiplam.
Zolgensma is a gene therapy, its advantage is that it only takes one infusion (injection) for a lifetime. Next comes the process of rehabilitation and restoration of lost skills. That is why we chose it. However, Zolgensma has its own treatment conditions. If you receive treatment in the United States, then the child should be no more than 2 years old, and Emir is currently 1 year and 7 months old. If they receive treatment in Europe, they have no age restrictions, but there is a weight restriction, the child must weigh no more than 13.5 kg. Therefore, we are very limited in time.
If we consider Spinraza and Risdiplam, then these drugs need to be taken throughout life on a regular basis, but the price for them per year ranges from $ 125,000 to $ 700,000, which adds up to huge costs. We would gladly agree to accept them if the state provided them, but this is not happening. In Kazakhstan, more than one child has not yet received any of the existing medicines; children simply continue to die. Nevertheless, we do not give up and continue to ask the government for help, organizing actions and protests, filling out endless forms and letters to get what not only my son, but also every child in need of treatment should have.
After collecting all the necessary information and thinking it over carefully, we started a fundraising campaign for the purchase of Zolgensma, with a team of caring volunteers and charitable foundations. We turn to the media, stars and bloggers, every day more and more people learn about us. My wife and I, we will do everything to save our son, and we will not stop until we achieve the desired results.
The Emir already knows that he is different from other children. He watches them run around the playground but cannot join them. He just sits in his wheelchair. Every day, with tears in his eyes, he undergoes painful rehab procedures to support his muscles. The emir deserves a life!
We live in constant anxiety and fear, but I have great hopes and dreams that my son will walk, run and be happy. He just started his life. Please help Emir soon! With every donation of any size, my son is getting closer and closer to health. And he needs your help right now, before it's too late.
Together we can give Emir a chance!
Please note that our country, Kazakhstan, is not currently supported by GoFundMe. Our family friend, Shawn Serikov, lives in the United States. Once the fundraising campaign is complete, he will request the funds from GoFundMe and wire the entire amount to our account in Kazakhstan.
Основной аккаунт на русском языке:
https://www.instagram.com/emir_sma_aksay/
https://taplink.cc/emir_sma_aksay
Organizer and beneficiary
Талех Шахмаров
Organizer
Mission Bend, TX
Shawn Serikov
Beneficiary
