My story

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.

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).

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%.

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.