Gianna's Whole New World with SMA
Donation protected
My name is Gianna Vivar. I was diagnosed with Spinal Muscular Atrophy at the age of 13 months. I am now 2 years old and am the sweetest, brightest, and most charming 2-year-old you will ever meet. Regardless of my daily inabilities due to my limitations, nothing stops me from accomplishing anything I set my mind to.
Since SMA involves the loss of nerve cells called motor neurons in the spinal cord, it robs my body of movement, my ability to walk and sometimes eating and breathing. SMA is the number one genetic cause of death for infants.
At approximately 6 months, my family began to get concerned when I was not meeting my milestones. Although I am very smart, brilliant and verbal, I was lacking the ability to crawl, sit, stand and much less walk. For months, my family constantly asked my pediatrician why I was not crawling, standing or walking and his response was "she is just a late bloomer". My parents finally changed pediatrician and thankfully Dr. Varisa Perlman referred me to a neurologist and physical therapist to assess my developmental delay at 11 months. Unfortunately, the neurologist sent me back to physical therapy without any testing. However, my family persisted I be taken back to the neurologist for testing. After their plea, I was finally tested.
The test came positive for SMA (Spinal Muscular Atrophy Type 2).
After a month waiting for authorization from the insurance to start Spinraza, the only treatment available at the time for SMA. I was taken to Dr. Lopez-Alberola who immediately scheduled me for my first Spinraza treatment.
I have never crawled, stood & much less been able to walk. At the present moment, I actively attend therapy 3 - 4 times per week and sometimes up to 2 times a day, which includes Physical, Occupational and Respiratory therapy in order to assist me in gaining strength, promote independent mobility and prevent respiratory complications. Because of my disease, it is very challenging for me to be able to get around. In fact, I am wheelchair-bound and I need my parents to assist me with everything! I am currently under the ONLY treatment available suitable for my age, which is a medication called Spinraza. This medication is administered intrathecally every 4 months for the rest of my life and the cost of the medication alone is $125,000.00 each vial. With intrathecal injections, there is also the risk of infections for a child who already has a compromised immune system. My family has noticed major improvements in my mobility and respiratory strength thanks to Spinraza and my continued therapies, which amounts to close to a million dollars per year. I have learned to successfully use a manual wheelchair and I enjoy being able to move around independently but I often get fatigued due to my muscle weakness. Just recently we were approved for my power wheelchair but now we need to find a vehicle to transport it in.
My family is currently looking to raise funds for my medical expenses, therapies and other ways to promote for my mobility improvements. In addition to Spinraza, there is now a one-time intravenous injection called "Zolgensma" as part of gene therapy which would stop the disease from progressing and affecting my motor neurons. There is a high success rate with Zolgensma towards delaying the progression of SMA. The cost of Zolgensma is $2.2 million for a one time dose, which is not covered by insurance since the treatment only covers children under the age of 2. If I receive the one time dose of Zolgensma, I will not have to be subjected to intrathecal Spinraza injections every four months for the rest of my life.
Since SMA involves the loss of nerve cells called motor neurons in the spinal cord, it robs my body of movement, my ability to walk and sometimes eating and breathing. SMA is the number one genetic cause of death for infants.
At approximately 6 months, my family began to get concerned when I was not meeting my milestones. Although I am very smart, brilliant and verbal, I was lacking the ability to crawl, sit, stand and much less walk. For months, my family constantly asked my pediatrician why I was not crawling, standing or walking and his response was "she is just a late bloomer". My parents finally changed pediatrician and thankfully Dr. Varisa Perlman referred me to a neurologist and physical therapist to assess my developmental delay at 11 months. Unfortunately, the neurologist sent me back to physical therapy without any testing. However, my family persisted I be taken back to the neurologist for testing. After their plea, I was finally tested.
The test came positive for SMA (Spinal Muscular Atrophy Type 2).
After a month waiting for authorization from the insurance to start Spinraza, the only treatment available at the time for SMA. I was taken to Dr. Lopez-Alberola who immediately scheduled me for my first Spinraza treatment.
I have never crawled, stood & much less been able to walk. At the present moment, I actively attend therapy 3 - 4 times per week and sometimes up to 2 times a day, which includes Physical, Occupational and Respiratory therapy in order to assist me in gaining strength, promote independent mobility and prevent respiratory complications. Because of my disease, it is very challenging for me to be able to get around. In fact, I am wheelchair-bound and I need my parents to assist me with everything! I am currently under the ONLY treatment available suitable for my age, which is a medication called Spinraza. This medication is administered intrathecally every 4 months for the rest of my life and the cost of the medication alone is $125,000.00 each vial. With intrathecal injections, there is also the risk of infections for a child who already has a compromised immune system. My family has noticed major improvements in my mobility and respiratory strength thanks to Spinraza and my continued therapies, which amounts to close to a million dollars per year. I have learned to successfully use a manual wheelchair and I enjoy being able to move around independently but I often get fatigued due to my muscle weakness. Just recently we were approved for my power wheelchair but now we need to find a vehicle to transport it in.
My family is currently looking to raise funds for my medical expenses, therapies and other ways to promote for my mobility improvements. In addition to Spinraza, there is now a one-time intravenous injection called "Zolgensma" as part of gene therapy which would stop the disease from progressing and affecting my motor neurons. There is a high success rate with Zolgensma towards delaying the progression of SMA. The cost of Zolgensma is $2.2 million for a one time dose, which is not covered by insurance since the treatment only covers children under the age of 2. If I receive the one time dose of Zolgensma, I will not have to be subjected to intrathecal Spinraza injections every four months for the rest of my life.
Organizer
Idalmis Del Toro
Organizer
Miami, FL
