The diagnosis of Spinal Muscular Atrophy (SMA) for Rebecca Grace has been devastating. A healthy body contains two copies of the Spinal Motor Neuron (SMN) 1 gene and two copies of the SMN 2 gene in each cell, however, the number of copies of the SMN 2 gene varies. Some people having up to eight copies. Rebecca has 0 copies of the SMN 1 gene and 2 copies of the SMN 2 gene. This disease will affect Rebecca’s motor nerve cells in her spinal cord, taking away her ability to walk, eat, and breathe. SMA does not affect Rebecca's mental or cognitive abilities. 95% of babies with SMA type 1 do not reach their 2nd birthday and it is the number one genetic cause of death in infants.
Rebecca has currently been given her first dose of Spinraza. Spinraza is a Spinal Motor Neuron (SMN) enhancing therapy that works by targeting the SMN2 gene, causing it to make more complete protein. We are very thankful that this treatment is available in Canada and hopeful that Spinraza can slow the progression of the disease in Rebecca’s body until we can get funding for a new gene therapy approved in the USA called Zolgensma.
We are fundraising to get Zolgensma for Rebecca’s SMA Type 1. Zolgensma is currently not available in Canada but has been FDA approved and available in the USA, costing 2.125 million dollars USD. This treatment was labeled the most expensive treatment in the world. Zolgensma is a prescription gene therapy used to treat Spinal Muscular Atrophy (SMA) in children less than 2 years of age. Zolgensma is a single one time infusion therapy given intravenously which only takes about 60 minutes. It targets the genetic root cause of SMA by replacing the function of the missing or non-working survival motor neuron gene (SMN 1). The new gene tells motor neuron cells to produce more survival motor neuron (SMN) protein. Motor neuron cells need this SMN protein to survive and support muscle function.
TIME IS OF THE ESSENCE FOR REBECCA.
Rebecca was born May 30th, 2019 and has been diagnosed with Spinal Muscular Atrophy (SMA) Type 1 on November 19, 2019 at the age of 5 ½ months old. This is already a long time to have lived with the SMA disease without treatment. Awareness of this disease is lacking. SMA is not on the radar for most pediatricians. Rebecca has been misdiagnosed since birth. Rebecca is not able to sit on her own or keep herself supported. Her movement in her arms and legs are minimal. As time passes, she will continue to lose these functions.
With each day that passes without treatment for Rebecca, her motor neuron cells will continue to become weaker and weaker and eventually die. Once her cells stop working, they cannot be brought back. Zolgensma is designed to produce SMN protein in the motor neuron cells which preserves valuable muscular function needed for Rebecca to survive.
Your donations and prayers for Rebecca are greatly needed and appreciated.
- The Silva Family
Information about Zolgensma was taken from https://www.zolgensma.com
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