Sofie´s fight with SMA
Donation protected
My name is Sofia, and I really need your help.
I am not even a year old and I have spent more days in the hospital than most adults in their whole life.
It was beautiful at home before I was born. It was December, I was in my mother’s belly, my father went to work and my sister Anette was in kindergarten. When I was born, everyone was really happy. My parents, grandparents and our relatives. I was the ideal baby. I slept calmly, enjoyed eating and smiled at everyone. For my family, it was the most beautiful Christmas. Our parents were looking forward to enjoying the summer with us, going on road trips and being happy together.
When I was twelve weeks old, the happiness slowly began to fade away. I made my parents worry a lot because I could not lie on my belly, raise my head, or lift my feet off the ground. I was just lying down and looking around. Eventually, I was like a rag doll. That’s when my sister started calling me a “my little mushroom”.
Our pediatrician recommended us to see a neurologist, who shook his head and then suspected that I am suffering with a serious disease called spinal muscular atrophy. Mom and Dad did not know anything about this disease. They had no idea what would happen in the future, but they hoped the diagnosis would not be confirmed. I was still waiting for the results of blood tests and to do special examinations at Motol University Hospital. So, everyone still had hope. Before we could do the examinations, my parents and I started attending rehabilitation, where they were taught how to properly exercise with me. And we practiced diligently five times a day. Mom and Dad still had hope and they thought I was just a little more lazy than other children. And I made them sincerely happy. I began to grasp toys harder, spinning my head and I even moved my feet. It was pure joy! And we could finally go to Motol and we all believed I would be healthy.
We had no idea that we would hear the worst sentence in our life here. The doctors said: “We know why Sofia is not moving. She really does have a rare congenital genetic disease. It is spinal muscular atrophy of the first type.” It was a shock for everyone. This devastating message changed our whole world overnight. It was Friday, April 13, 2018.
Ever since the doctors first spoke about the possibility of me having this disease, my parents had been finding all the information they could about it. As any parent would, they wanted to find out how to fight this disease. Unfortunately, SMA1 is the most difficult form of this disease and its prognoses are frightening. According to all the available data, all of my muscles, including those that allow swallowing and breathing, will gradually break down. Since there were no therapy options, not that long ago, and children with this diagnosis would die within two years after their birth.
My parents could not accept that and they began to search for other options. They have discovered a foreign study on so-called gene replacement therapy in Boston. Only twenty children could be included in this study. Everyone tried very hard to get me to participate in this study. Believe it or not, a miracle happened! I got to participate in the the 3rd phase of the study and thanks to modern medicine, I have a great chance. A chance to be here with my parents for as long as possible, hoping that my illness might eventually get cured, that I will be able to get to know the world. I know it is only a study and no one can guarantee how I will react to it. With that being said, other children who have gone through the first stages of this study are doing really well. So, there is hope that I will live! There is hope that I will get to experience what healthy children experience. I would love to learn how to sit and eat by myself and play with other kids. Last but not least, I would very much like my Mom and Dad to see me grow up just like my sister.
The medicine, in which we put all of our hopes, was paid for by an amazing sponsor of the study. Everyone is extremely grateful for this life-changing opportunity. We still all think it was a miracle that I was allowed to be included in the study, as one of the three foreign children. But this is just the beginning.
On my long and hard journey, I will need funds to pay for expensive rehabilitation. They are not paid for by health insurance companies. Those are crucial for my treatment, as well as health and compensation aids, other medicine and vitamins. All of this is very expensive and my parents unfortunately do not make enough money to cover these expenses. Especially when my mom has to take care of me all day long. The monthly costs of my treatment are tremendously high and even with the whole family helping us, we cannot afford it. I am a sick little girl who has a great desire to live and I cannot do without your help. With your help, you grant me a chance to live.
I am only at the beginning of a long journey. No one knows where it will go, how long and complicated it will be, but believe that I am fighting with all my might. Help me by donating to this fundraiser.
From the bottom of my heart, I am very grateful for any help and support.
Sofia
more about me:
www.nadejeprosofinku.cz
I am not even a year old and I have spent more days in the hospital than most adults in their whole life.
It was beautiful at home before I was born. It was December, I was in my mother’s belly, my father went to work and my sister Anette was in kindergarten. When I was born, everyone was really happy. My parents, grandparents and our relatives. I was the ideal baby. I slept calmly, enjoyed eating and smiled at everyone. For my family, it was the most beautiful Christmas. Our parents were looking forward to enjoying the summer with us, going on road trips and being happy together.
When I was twelve weeks old, the happiness slowly began to fade away. I made my parents worry a lot because I could not lie on my belly, raise my head, or lift my feet off the ground. I was just lying down and looking around. Eventually, I was like a rag doll. That’s when my sister started calling me a “my little mushroom”.
Our pediatrician recommended us to see a neurologist, who shook his head and then suspected that I am suffering with a serious disease called spinal muscular atrophy. Mom and Dad did not know anything about this disease. They had no idea what would happen in the future, but they hoped the diagnosis would not be confirmed. I was still waiting for the results of blood tests and to do special examinations at Motol University Hospital. So, everyone still had hope. Before we could do the examinations, my parents and I started attending rehabilitation, where they were taught how to properly exercise with me. And we practiced diligently five times a day. Mom and Dad still had hope and they thought I was just a little more lazy than other children. And I made them sincerely happy. I began to grasp toys harder, spinning my head and I even moved my feet. It was pure joy! And we could finally go to Motol and we all believed I would be healthy.
We had no idea that we would hear the worst sentence in our life here. The doctors said: “We know why Sofia is not moving. She really does have a rare congenital genetic disease. It is spinal muscular atrophy of the first type.” It was a shock for everyone. This devastating message changed our whole world overnight. It was Friday, April 13, 2018.
Ever since the doctors first spoke about the possibility of me having this disease, my parents had been finding all the information they could about it. As any parent would, they wanted to find out how to fight this disease. Unfortunately, SMA1 is the most difficult form of this disease and its prognoses are frightening. According to all the available data, all of my muscles, including those that allow swallowing and breathing, will gradually break down. Since there were no therapy options, not that long ago, and children with this diagnosis would die within two years after their birth.
My parents could not accept that and they began to search for other options. They have discovered a foreign study on so-called gene replacement therapy in Boston. Only twenty children could be included in this study. Everyone tried very hard to get me to participate in this study. Believe it or not, a miracle happened! I got to participate in the the 3rd phase of the study and thanks to modern medicine, I have a great chance. A chance to be here with my parents for as long as possible, hoping that my illness might eventually get cured, that I will be able to get to know the world. I know it is only a study and no one can guarantee how I will react to it. With that being said, other children who have gone through the first stages of this study are doing really well. So, there is hope that I will live! There is hope that I will get to experience what healthy children experience. I would love to learn how to sit and eat by myself and play with other kids. Last but not least, I would very much like my Mom and Dad to see me grow up just like my sister.
The medicine, in which we put all of our hopes, was paid for by an amazing sponsor of the study. Everyone is extremely grateful for this life-changing opportunity. We still all think it was a miracle that I was allowed to be included in the study, as one of the three foreign children. But this is just the beginning.
On my long and hard journey, I will need funds to pay for expensive rehabilitation. They are not paid for by health insurance companies. Those are crucial for my treatment, as well as health and compensation aids, other medicine and vitamins. All of this is very expensive and my parents unfortunately do not make enough money to cover these expenses. Especially when my mom has to take care of me all day long. The monthly costs of my treatment are tremendously high and even with the whole family helping us, we cannot afford it. I am a sick little girl who has a great desire to live and I cannot do without your help. With your help, you grant me a chance to live.
I am only at the beginning of a long journey. No one knows where it will go, how long and complicated it will be, but believe that I am fighting with all my might. Help me by donating to this fundraiser.
From the bottom of my heart, I am very grateful for any help and support.
Sofia
more about me:
www.nadejeprosofinku.cz
Organizer and beneficiary
Iveta Petrovická
Organizer
Jamaica Plain, MA
Michal Gregus
Beneficiary
