Wow, it's been an entire month since I posted. Things have been a little hectic but Noah is doing really good. He continues to impress us everyday. This disease is not easy to deal with, but we continue our fight. Not much has changed over the last month except that we have changed Noah's diet. He is now on an amino acid based diet and has had tremendously impressive results. He has had more movement in his legs the last three weeks than Lane and I have seen in almost a year. He is also starting to gain weight better. We couldn't be happier with the results.
As alot of you have probably seen there is a beautiful baby girl by the name of Avery that lost her battle with SMA on Monday at only 5 months old. She has done an amazing thing for us and all SMA kids. Her dad started a blog for family and friends to keep up with Avery. Little did he know the blog would go viral and little Avery would touch the world and bring awareness to SMA. There is hope and we are hopeful for a cure in Noah's lifetime. Avery's dad created a bucket list, and Avery's last wish was to raise money for gene therapy. As stated on her blog "One of Avery's newest Bucket List goals was to help raise the remaining $365,000 (out of $1mil) needed to bring Dr. Kaspar's SMA Gene Therapy program out of the lab and into her SMA friends. Dr. Kaspar's SMA Gene Therapy could cure Avery's friends or at the very least offer advancements towards a cure for them." As of this morning $136,000 was already donated. Thank you so much little Avery, and to your amazing parents Mike and Laura Canahuati, who will not give up on spreading awareness!
Please at the very least tell everyone you know about SMA. Awareness is the key. It could happen to you! Please spread the word......
· SMA is the #1 genetic killer of children under 2.
· SMA is estimated to occur in nearly 1 out of every 6,000 births.
· 1 in every 40 people, or nearly 10 million Americans, UNKNOWINGLY carry the gene responsible for SMA. Few have any known family history.
· SMA is a pan-ethnic disease and does not discriminate based on race, ethnicity, or gender.
· There is currently no treatment and no cure, but the National Institutes of Health (NIH) selected SMA as the disease closest to treatment of more than 600 neurological disorders.
· Researchers estimate that a viable treatment and/or cure is attainable in as little as 5 years – IF provided adequate resources.
· The American College of Medical Genetics recommends that SMA carrier testing be made available to ALL couples planning a family, regardless of ethnicity or family history.
Most babies with SMA are born after a normal pregnancy, are seemingly healthy, and pass all current newborn screenings. SMA is a terminal and degenerative disease that causes weakness and wasting of the voluntary muscles in infants and children. Specifically, the disease is caused by an abnormal or missing gene known as the survival motor neuron gene (SMN1), which is responsible for the production of a protein essential to motor neurons. Without this protein, lower motor neurons in the spinal cord degenerate and die. As the motor neuron network breaks down, the ability of the brain to control muscles diminishes and with less control and use, muscles weaken and waste away. Simply, SMA eventually impacts every muscle in the body hindering the ability to walk, sit, stand, eat, breathe, and swallow. The mind always remains unaffected and children with SMA are bright, sensitive, and playful in spite of their failing bodies.
