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Support the FAME Chile Foundation, and also Lucía, Lucas and Bianca in the fight against Spinal Muscular Atrophy who also started their campaigns to obtain treatment.
Hello, I am Facundo, I am 6 years old and I am going to tell you the story of my younger brother, Borja. My mom is called Mariajosé and my dad is called Rodrigo. We are a family that loves and has a lot of fun, but a while ago, after spending many weeks in hospitals and seeing many doctors, Borjita found a strange and very serious disease called Spinal Muscular Atrophy type 1.
Due to this illness, my brother cannot move, breathe well, or play with me, if he receives this special remedy, it could change his life. The problem is that this remedy is the most expensive in the world. Therefore, we are campaigning so that many people can get this medicine. Help me achieve my dream, improve my little brother, watch him grow and play with him all my life.
The love conquers all
In April 2019 we received a strong blow when our son Borja, at 2 months old, was diagnosed with Spinal Muscular Atrophy (SMA) type 1, a serious genetic disease, with no life expectancy.
That is the moment where the world collapsed, our lives changed from one second to another, the feeling of despair, sadness and frustration is inexplicable, it was the most difficult moment we have had as a family.
But a year ago a new life expectancy was opened. A revolutionary new medicine, unique in its kind, called "Zolgensma", which repairs the genetic error of SMA causing the normal functioning of motor neurons. With this medicine, Borja could normally produce the protein that fuels his motor neurons, which he does not produce. So not only would it improve your quality of life, but you could also achieve respiratory and motor milestones that would prolong it.
But there is a problem, Zolgensma, from the Avexis laboratory, is the most expensive remedy in the world, there is no other that reaches its current value: 2.1 million dollars and currently they only sell it in the US and in some European countries. And there is another problem, we need to acquire this medicine before 6 months, because it is only administered until two years of life.
So we have a dream that seems impossible, which involves bringing together the will of thousands of people to, in a race against time, raise a lot of money. That is our crazy idea of love for our son: we are going to raise the 2.1 million dollars, we are going to save his life and we are going to see him go ahead. There is no price for a child's life and as a family we are willing to do everything possible to fulfill this dream.
THE LOVE CONQUERS ALL.
DIAZ CARO FAMILY
Learn more about Borja and Spinal Muscle Atrophy (SMA)
Jessica and Aubrey’s Story
My name is Jessica, and this is my family after welcoming our beautiful baby Aubrey into our lives in May 2019.
She was the perfect, healthy little baby. But over time, we noticed she wasn’t hitting the milestones she should and seemed very weak. After seeing multiple doctors and undergoing many test at the hospital, Aubrey, was diagnosed with Spinal Muscular Atrophy when she was 2.5 months old. Before diagnosis, Aubrey could barely move. She would lay with her arms and legs straight and unmoving. If picked up, her limbs would hang limply.
We were lucky, and Aubrey was able to start Spinraza right away. On Spinraza, she improved. We were so happy to see her getting stronger. She got to the point where she could roll from side to side and had some head control. She wasn’t able to clear secretions very well on her own, so we needed the help of some equipment to keep her airways clear, especially when she was sick. This was the scariest thing for us. While her Spinraza injections were going really well, we had heard some stories of complications with them over time, which made us nervous. Then we heard about this treatment available in the United States called “Zolgensma” or “gene therapy”.
The more we heard about Zolgensma, the more we knew we had to do whatever we could to get it for our daughter. The success stories were amazing. If babies were treated presymptomatically, it was like a cure! And for others who received treatment early, whether Spinraza first and then Zolgensma or just Zolgensma, they were still seeing vast improvement, superior to that of just Spinraza.
Thankfully, because of our particular circumstances being dual citizens, we were able to move to the US and get Zolgensma when Aubrey was 10.5 months old. While it’s supposed to take a bit of time for it to be fully in their systems, we were blown away by how early we saw results. Aubrey had never sat by herself before Zolgensma, and within 4 days after dosing, she sat for minutes at a time unassisted! We are now 3.5 months post Zolgensma, and Aubrey has sat for over an hour at a time. She’s bouncing in her Jolly Jumper and putting pressure on her feet, which she never did before. She has started pushing herself in her little wheelchair, but the doctors have told us they are hopeful she won’t need it in the future. These are things that either would not be possible at all or would have taken much longer on Spinraza. And the longer these babies’ bodies go without movement and weight-bearing, the more complications can arise with their bones, making it much harder to ever be possible.
The progress we saw from Zolgensma was astonishing. It was much more than we saw on Spinraza. Not only that, but now Aubrey doesn’t have to get injections into her spine every 4 months for the rest of her life. Zolgensma was a one-time infusion administered via IV over 60 minutes. It was so surprising to see how simple of a procedure it was for the hefty price tag. But even when you look at that price, the amount of money saved over time from getting Zolgensma vs Spinraza is enormous. Not only in the actual treatments themselves, but also in the future care of these babies. Aubrey will require less equipment in her lifetime. She will also have a much better quality of life, which I don’t think you can put a price tag on.
We are so grateful that Aubrey was able to get Zolgensma, and we hope that the rest of the countries around the world will approve Zolgensma right away and save all of these babies. Borja deserves the best treatment. He deserves the best quality of life he can get, and he will get that by receiving Zolgensma.
History of Borja's diagnosis
Borja was born in Concepción on February 27, 2019, totally healthy, active and highly anticipated by his parents Mariajosé, Rodrigo and his 6-year-old brother Facundo. He had totally normal healthy control, but from one moment to the next, after one month of life, we began to notice a decrease in his movements and we decided to take him to the doctor, who immediately referred us to the clinic because apparently it was something serious.
At that moment, the world collapsed. They hospitalized our son and began to do many tests. With each day that passed, possible illnesses were ruled out and the worst remained. For a moment we thought we couldn't get up. The pain you have when your child is in danger is inexplicable, but from all that pain you draw strength, love is strengthened and faith prevails.
"Let's do something that gives us more strength", we said one day and at the clinic we were allowed to baptize Borja. He was in the ICU and that same day a geneticist doctor who was on duty came and was our great support. She told us that she wanted to rule out a rare disease, so we sent the samples to Santiago and after a week we had confirmation of the diagnosis. Our Borjita had a genetic disease called SMA (Spinal Muscular Atrophy).
SMA is a genetic error that does not allow the production of the protein that feeds the motor neurons to function, therefore, children gradually lose all mobility until death.
The doctor had told us about this aggressive and untreated disease. She told us that children have a life expectancy of 2 years, but she also gave us hope. A couple of months ago a new treatment had arrived in Chile, but it was very high cost: 500 million pesos the first year and then 300 million annually for life, the most expensive treatment in the world; so catastrophic insurance had to be activated. To do this, we went to the ISAPRE and the bureaucracy problems appeared: they did not allow us to do so, indicating that documentation was missing and that it had to be obtained in less than 48 hours for the CAEC insurance to be activated (strange thing if this insurance is only activated with the diagnosis ). It was hours of anguish thinking about what we could do and suddenly we said "everything for Borja!" and it occurred to us to make it public, view our situation on social networks and ask for support from the media. All to achieve a treatment as soon as possible and prevent Borja from further progressing in the disease.
While we traveled to Santiago, to a consultation with the most knowledgeable doctor in Chile about this disease, we were called from isapre to confirm the approval of the CAEC. We finally had good news. We decided to re-hospitalize Borja as soon as possible and in parallel process the medication. Once hospitalized, the outlook was very discouraging. The doctors told us everything that could happen to our son and we clung to the possibility that the medicine would arrive soon.
Finally, on May 7, 2019, Borja received his first infusion of Spinraza® (the first medicine to treat SMA in the world). We were hopeful, but with the concern that our son would not wake up from anesthesia since he had become very weak in the process. But he woke up and our anguish gave way to indescribable joy. We go from sad days to the happiest of our lives.
Borja is currently on his seventh spinraza dose and has had important achievements. In simple words, for him, simply drinking milk is like running a marathon, he gets tired, he is still very weak and requires a lot of care. He needs several sessions of respiratory and motor kinesiology a day, is connected to a non-invasive ventilator for several hours a day, and, for example, a simple cold quickly transitions to pneumonia.
As parents, we will always look after the health of our children, we will always try to give them the best. Just as, a little over a year ago, without much hope and clinging to love for our son, we went in search of the most expensive treatment in the world and managed to fulfill the dream of being able to give "spinraza" to our Borja; Today we begin to travel the same way again, to get the most expensive medicine in the world, the "Zolgensma".
We do it full of love, hope and conviction. Whenever our son needs it and regardless of how difficult it is to make this dream come true, we will be there to continue fighting for our Borja. And with your support, each day we will be closer to fulfilling our dream.
What is spinal muscular atrophy?
Spinal muscular atrophy is a condition of genetic origin characterized by muscle weakness and atrophy (this is when the muscles are reduced due to lack of use). It means that the physical strength necessary to crawl, walk, sit, walk, eat and breathe is gradually lost.
There are four types of SMA, and all types require ongoing treatment by a medical team. This disease still has no cure, but treatments can help children lead better lives.
What happens in spinal muscular atrophy?
In spinal muscular atrophy, the nerves that control muscle strength and movement break down. Those nerves, called motor neurons, are found in the spinal cord and in the lower part of the brain. They cannot send signals from the brain to the muscles so that the muscles can move. When a muscle is not moving and is inactive, it loses volume and becomes small (atrophy).
What is the cause of spinal muscular atrophy?
Most spinal muscular atrophies are caused by a problem in a gene called SMN1. The gene does not make enough of a protein that motor neurons need to function normally. The motor neurons break down and cannot send messages to the muscles.
A child with spinal muscular atrophy receives an altered copy of the SMN1 gene from each of her parents. If a child only receives an altered copy of the SMN1 gene from one of their parents, chances are they don't have any signs of spinal muscular atrophy, but could pass it on to their children. One in 50 people are carriers of Ame, the probability that 2 carriers have a child with ame is 25%, it is presented in the following table.
The human body is made up of a myriad of cells and genes that make us who we are. SMA is caused by a mutation in the SMN1 gene, and this mutation is why we have this terrible disease. They all have a copy of the SMN1 gene, and it is known as the SMN2 gene. This SMN2 gene produces the same type of protein that the SMN1 gene produces, only in lower amounts.
ZOLGENSMA, while the second and new FDA-approved treatment for SMA, is the first gene therapy of its kind. Instead of working on the SMN2 gene, like Spinraza, ZOLGENSMA replaces the missing or faulty SMN1 gene. Although Spinraza repairs the SMN2 gene, the SMN2 gene still produces less functional protein than the SMN1 gene. Since ZOLGENSMA replaces the missing or defective SMN1 gene, this provides patients with a fully functional SMN protein.
Seeing realities of children with both treatments point out that zolgensma changed their lives, they achieved many more milestones and life expectancy.