We are Made and Felipe. Rafita´s parents.
Our story began many years ago when we met in the School "Liceo la Asunción de Talcahuano", where we became very good friends for our entire schooling time. As life changes and plans are pursued in different pathways, we stopped seeing each other for more than eight years. The latter did not prevent us from running into each other once again. We became inseparable.
We got married in 2018 in a very happy ceremony surrounded by our family and dearest friends. In 2019 we started our plans to become parents, although, this wasn't an easy process. In 2020 we received the greatest news when Rafita finally decided to come to this world. He was so wished and loved by us and by our family and friends. Our pregnancy was tough due to the lockdown, although we were able to remain the three of us together and gained strength to the due day. Our loved baby was born a few days ago, on October 21st. However, after a few days after Rafa was born, aunt Carola - who is a pediatrician- observed that our baby presented symptoms of hypotonia. This first diagnosis led us to perform many tests for several days. Sadly, on November 7th we received the confirmation that Rafa suffers from Spinal Muscular Atrophy (SMA) type 1, one of the most aggressive and serious forms of this disease.
SMA is an autosomal recessive neurodegenerative rare disease. Until 2019- despite there being treatments available to help manage symptoms, reduce discomfort, and maintain quality of life for as long as possible - the life expectancy was very limited, therefore, babies died before 2 years old. Fortunately, cutting-edge treatments are available today, which may substantially improve the quality of life and survival are on the horizon. This treatment is ZOLGENSMA, however, it is the most expensive medication in the world, and it is sold for 2.1 million dollars.
This amount is unaffordable for any family, and yet, it is not the only challenge we face. ZOLGENSMA must be administered in the early stages of SMA to be efficient to patients. Timing is so critical that this medication is not given or sold to patients over two years old, that is why we need ZOLGESMA as soon as possible, ideally before Rafa reaches 100 days of life.
Certainly, this diagnosis was the most devastating and heartbreaking news that any parent can receive. However, we stand up firmly and with conviction because our dear son needs us. Rafa is struggling to live and we as parents are doing everything possible for him to succeed. We cannot do this on our own, so to save Rafita´s life WE NEED EACH ONE OF YOU to get ZOLGESMA and make this miracle happen.
Thank you in advance to all of you for your support and contribution.
Madeleine, Felipe y Rafita.
Conoce más sobre la atrofia muscular espinal (AME)
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.