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My story

Hi! I’m Emma, i’m only 7 months old and this is my story. 

My mom is Natalí and my dad is Enzo. Thank god i chose them as parents, because they are the ones that look for the meds i need everyday to heal, and this is why we started this campaign. 

I tested for SMA (Spinal Muscular Atrophy) and after a month the results showed I was positive, type 1. In case you don’t know, SMA is a genetic neuromuscular disease, as weird as dangerous, that won’t let me move nor breath normally. 

There’s still hope, so we need your help! «Zolgensma» is the most expensive medicine in the world, 2.1 million dollars. We need everybody’s help to get it. We don’t have much time, since the treatment will only work if i get it before i’m 2 years old. 

Please help me keep playing!!

Learn more about Emmita and Spinal Muscle Atrophy (SMA)

¿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.

¿Why Zolgensma?

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.

Emmita needs the most expensive medicine in the world.

¡Help us, any collaboration adds up!

Caja de Ahorro en Pesos

Cuenta: 0886222268

Cbu: 1500047300008862222682


Mercado Pago

Caja de Ahorro en Dólares

Cuenta: 0888102038

Cbu: 1500047300008881020382


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#TODOSCONEMMITA It is a particular initiative of MaríaJosé and Rodrigo, Emmita’s parents. This website was developed with the support of Mística estudio

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