Our story
We are an ordinary family from the Altai region in Russia. My name is Liudmila, I am the mother of a wonderful girl Maria, who suffers from spinal muscular atrophy (SMA) type II. Dear friends, let us tell you our story.
Our Maria was born on Epiphany Day, January 19, 2018 at 05:39. She is the third child in our family. Maria grew and developed like an ordinary child. But before the New Year in 2019, when Maria was 11 months old, we had a planned vaccination and then, according to the tradition, went to visit Maria’s grandparents for a family holiday.
Our Maria was born on Epiphany Day, January 19, 2018 at 05:39. She is the third child in our family. Maria grew and developed like an ordinary child. But before the New Year in 2019, when Maria was 11 months old, we had a planned vaccination and then, according to the tradition, went to visit Maria’s grandparents for a family holiday.
But something was amiss:
I began to notice that Maria had difficulty getting up in the crib, clinging to the bed rails and showing signs of immobility that we had never shown before. Terror gripped me. Earlier our eldest son had been diagnosed with Duchenne disease, and, to our understanding, only boys suffer from this disease. We were told that, having a girl, this genetic disorder would be no issue.
Another year was spent going through numerous examinations. Cancer was suspected, but it was ruled out. This year of uncertainty drove me crazy. Time passed, Maria grew weaker, and finally our neurologist sent us to a panel for neuromuscular diseases. Just imagine my shock when, on January 30, 2020, a positive SMA test result arrived for the eldest son (type III, which is less severe), who had previously suffered from Duchenne’s disease. AND at the same time Maria was diagnosed with SMA type IIl. All this time, my son had been given the wrong diagnosis, for which there is simply no cure, and now we had a second child diagnosed with SMA.
On February 5, 2020, a geneticist confirmed that Maria has a breakdown in the SMN1 gene, and issued a conclusion. We began to study this disease and found that there was treatment that can stop the deterioration of nerves available for this condition. The drug Spinraza was suitable for Maria, as Zolgensma, the other option, was out of reach at the time due to age restrictions in Russia. Our struggle for the lives of our two children began. All possible avenues were investigated and, on November 16, 2020, the first administration of Spinraza for Maria finally took place.
Here’s the issue:
Spinraza is only subsidized through the government until Maria is 18 years old. After this, it costs approximately $150,000 USD a year. Our family is unable to afford that, as this is a lifelong medication. The other option is Zolgensma, which is a one time injection, costing $1,819,000.00 USD. Initially, we believed that Zolgensma was an impossibility due to Maria’s age, but, through research, we found that the age restriction is only implemented in some countries, the administration of this medication is based on weight instead of age.
I began to notice that Maria had difficulty getting up in the crib, clinging to the bed rails and showing signs of immobility that we had never shown before. Terror gripped me. Earlier our eldest son had been diagnosed with Duchenne disease, and, to our understanding, only boys suffer from this disease. We were told that, having a girl, this genetic disorder would be no issue.
Another year was spent going through numerous examinations. Cancer was suspected, but it was ruled out. This year of uncertainty drove me crazy. Time passed, Maria grew weaker, and finally our neurologist sent us to a panel for neuromuscular diseases. Just imagine my shock when, on January 30, 2020, a positive SMA test result arrived for the eldest son (type III, which is less severe), who had previously suffered from Duchenne’s disease. AND at the same time Maria was diagnosed with SMA type IIl. All this time, my son had been given the wrong diagnosis, for which there is simply no cure, and now we had a second child diagnosed with SMA.
On February 5, 2020, a geneticist confirmed that Maria has a breakdown in the SMN1 gene, and issued a conclusion. We began to study this disease and found that there was treatment that can stop the deterioration of nerves available for this condition. The drug Spinraza was suitable for Maria, as Zolgensma, the other option, was out of reach at the time due to age restrictions in Russia. Our struggle for the lives of our two children began. All possible avenues were investigated and, on November 16, 2020, the first administration of Spinraza for Maria finally took place.
Here’s the issue:
Spinraza is only subsidized through the government until Maria is 18 years old. After this, it costs approximately $150,000 USD a year. Our family is unable to afford that, as this is a lifelong medication. The other option is Zolgensma, which is a one time injection, costing $1,819,000.00 USD. Initially, we believed that Zolgensma was an impossibility due to Maria’s age, but, through research, we found that the age restriction is only implemented in some countries, the administration of this medication is based on weight instead of age.
Our fundraiser on social media:
On October 15 2020, it was decided to open a fundraiser for Zolgensma, according to the new weight protocol. In the European Union, there was no longer any age limit, and the administration could be done with bodyweight up to 21 kg. Maria has a new chance for a life-saving injection, the principle of which is to replace a broken gene with a functioning one. A single administration is required, and, without this injection, treatment ends when Maria is 18. After this, Maria’s life expectancy drops substantially, with 30% of those diagnosed with SMA type 2 not surviving at the age of 25. At the time of writing this (April, 2024) we have raised 64% of the required funds for the injection.
On October 15 2020, it was decided to open a fundraiser for Zolgensma, according to the new weight protocol. In the European Union, there was no longer any age limit, and the administration could be done with bodyweight up to 21 kg. Maria has a new chance for a life-saving injection, the principle of which is to replace a broken gene with a functioning one. A single administration is required, and, without this injection, treatment ends when Maria is 18. After this, Maria’s life expectancy drops substantially, with 30% of those diagnosed with SMA type 2 not surviving at the age of 25. At the time of writing this (April, 2024) we have raised 64% of the required funds for the injection.
Our last hospitalization showed Maria’s weight of 17 kg. I had a nervous breakdown. It struck me then that Maria’s weight is always increasing and our chance at prolonging her life becomes slimmer and slimmer. I do not believe that my daughter will not be saved, I believe only in the best, and this is the best — treatment. Therefore, while we are separated by these 4 kilograms, I ask you to help us in the fight for this medicine, because Maria will not have another chance...