Rally4Remi
Donation protected
Remi was born on July 11,2016 full of life and surrounded by love. Around 3 months old we noticed she wasn't moving her legs much. Our pediatrician was concerned and sent us to a get a brain MRI. When the brain MRI results came back positive, we were hoping she was just delayed. We went to see a neurologist who believed she had Spinal Muscular Atrophy (SMA).
SMA is characterized by the loss of motor neurons in the spinal cord and lower brain stem, resulting in severe and progressive muscular atrophy and weakness. Ultimately, individuals with the most severe type of SMA can become paralyzed and have difficulty performing the basic functions of life, like breathing and swallowing.
Due to a loss of, or defect in the SMN1 gene, people with SMA do not produce enough survival motor neuron (SMN) protein, which is critical for the maintenance of motor neurons. The severity of SMA correlates with the amount of SMN protein. People with Type 1 SMA, the most severe life-threatening form, produce very little SMN protein and do not achieve the ability to sit without support or live beyond 2 years without respiratory support. Currently, there is no approved treatment for SMA."
You're never fully prepared for news like this, especially when it comes to your children. In only one week we went from thinking our baby girl was "normal" and healthy to wondering if she'll even make it to see her first birthday. We spent the next two days mourning the idea of losing our sweet girl, who was so happy and full of life right in front of our eyes. We cried many tears and had many hard talks about her future. After religiously looking on social media for families whose kids also had SMA, we found hope - so much hope. There is a trial drug called Nusinersen that is helping children sit, stand and a few even walk - things that have previously never been possible with SMA Type 1 kids. This hope was all we needed to get off the couch and fight for our baby girl’s life. After meeting an amazing genetic specialist, Dr. Finkel, at Nemours in Orlando, Remi got blood work done and was confirmed SMA Type 1 on November 7, 2016. As much as we didn't want the tests to come back positive, we were prepared for the results. Thankfully Dr. Finkel is an SMA guru who is involved with the development of nusinersen and was able to get Remi started the next week on the treatment with nusinersen. We have been so incredibly blessed to have been placed in the right hands at the right time. Remi has now had 3 treatments of Nusinersen.
"Nusinersen is an antisense oligonucleotide (ASO) that consists of small pieces of synthetic material that bind ribonucleic acid (RNA). The therapy, which is being developed to treat infants and children with spinal muscular atrophy, targets the SMN2 gene and converts it to a SMN1 gene, which then binds to the RNA template made by SMN2 and enhances the inclusion of exon 7 into the SMN protein, increasing its production."
With the love and support of all of our family and friends, we have so much hope for Remi to have a bright and healthy future.
SMA is characterized by the loss of motor neurons in the spinal cord and lower brain stem, resulting in severe and progressive muscular atrophy and weakness. Ultimately, individuals with the most severe type of SMA can become paralyzed and have difficulty performing the basic functions of life, like breathing and swallowing.
Due to a loss of, or defect in the SMN1 gene, people with SMA do not produce enough survival motor neuron (SMN) protein, which is critical for the maintenance of motor neurons. The severity of SMA correlates with the amount of SMN protein. People with Type 1 SMA, the most severe life-threatening form, produce very little SMN protein and do not achieve the ability to sit without support or live beyond 2 years without respiratory support. Currently, there is no approved treatment for SMA."
You're never fully prepared for news like this, especially when it comes to your children. In only one week we went from thinking our baby girl was "normal" and healthy to wondering if she'll even make it to see her first birthday. We spent the next two days mourning the idea of losing our sweet girl, who was so happy and full of life right in front of our eyes. We cried many tears and had many hard talks about her future. After religiously looking on social media for families whose kids also had SMA, we found hope - so much hope. There is a trial drug called Nusinersen that is helping children sit, stand and a few even walk - things that have previously never been possible with SMA Type 1 kids. This hope was all we needed to get off the couch and fight for our baby girl’s life. After meeting an amazing genetic specialist, Dr. Finkel, at Nemours in Orlando, Remi got blood work done and was confirmed SMA Type 1 on November 7, 2016. As much as we didn't want the tests to come back positive, we were prepared for the results. Thankfully Dr. Finkel is an SMA guru who is involved with the development of nusinersen and was able to get Remi started the next week on the treatment with nusinersen. We have been so incredibly blessed to have been placed in the right hands at the right time. Remi has now had 3 treatments of Nusinersen.
"Nusinersen is an antisense oligonucleotide (ASO) that consists of small pieces of synthetic material that bind ribonucleic acid (RNA). The therapy, which is being developed to treat infants and children with spinal muscular atrophy, targets the SMN2 gene and converts it to a SMN1 gene, which then binds to the RNA template made by SMN2 and enhances the inclusion of exon 7 into the SMN protein, increasing its production."
With the love and support of all of our family and friends, we have so much hope for Remi to have a bright and healthy future.
Organizer and beneficiary
Stacey Nichols
Organizer
Atlantic Beach, FL
Coral Friend
Beneficiary