The SMA Community is tight-knit; we celebrate our accomplishments, mourn our losses, lend an empathetic ear, and problem-solve with and for one another. We laugh with, cry with and care for each other. We may not always agree. We may not always put our best foot forward. We do however, rely on each other as we share the common thread of SMA.
The overwhelming need to "save" your child(ren) when they are in danger, any danger, is one part of parenthood that comes naturally. It's a powerful need, riddled with emotions, driven by love, and pursued by a sheer will for the survival of your child(ren).
We can recall having a conversation with each other, just hours after we knew Ella had SMA. We were sitting at the bottom of our stairs on the floor. Ava & Henry were with Gramma & Grandpa since we had an appointment that day for Ella with a neurologist. We sat with Ella as she struggled to move in a way that a 14 month old should be able to move. The house was silent as were we. Thoughts of what this disease will do swirled endlessly in our minds. We realized something then, "Our job is not to save her; it's to keep her alive until they find a treatment or a cure." With tear-filled eyes we looked at one another and then at our happy little baby and knew what we had to do; everything in our power to care for her.
Fast forward to Sept. 20, 2013. Through the SMA Community we find our that one of the most promising and exciting research for treatments and a possible cure for SMA has just been granted permission by the FDA to begin human clinical trials. While there are several research projects occurring and even some of them in clinical trials themselves, this particular research is extremely promising.
Dr. Brian Kaspar has been working tirelessly with his staff at Nationwide Children's Hospital on a "Gene Therapy" approach to treating/curing SMA. His research has been granted the green light to start human clinical trials and will do so in early 2014. These initial trials will be limited to children with SMA Type 1, ages birth to 9 months.
We know that SMA is a result of a defective, mutated, or deleted gene called SMN (Survival of Motor Neuron) that is located on chromosome #5. This gene is housed in the spinal cord. Getting to this area presents great difficulties Dr. Kaspar, however, has figured out a way to introduce SMN to the correct physiological place by "infecting" the cells that house the gene. He will carry the SMN that he wants to introduce to the chromosome by way of a virus. In theory, this virus will infect the cells without any side-effects and in the process will deliver the needed SMN gene to those cells. In short, he is replacing or introducing a new SMN gene that will then allow motor neurons to survive. If motor neurons survive then SMA is no longer present. Brilliant.
What does this mean for the different "types" of SMA? Of course this will benefit those kids who are just being diagnosed the most. The earlier you introduce the new SMN, the more motor neurons can be saved. For kids and adults who have already experienced motor neuron loss the new SMN proports to halt the disease where it stands currently. There is a hope that through the complexity and sheer miraculous nature of the human body that the neurons that are still "alive" just may branch out to muscle fibers and "reconnect" allowing for increased movement and strength.
The SMA Community has stopped for a moment to fully take in the implications of this research as it is now poised to enter human clinical trials. Hope has never been higher. Now, more than ever, the SMA Community asks, humbly and with great anticipation, that anyone who has ever supported the SMA Community in any way joins us in collectively raising awareness, raising funds, and raising increased support for SMA research.
The success of Dr. Kaspar's delivery approach into the spinal cord will not only benefit those afflicted with SMA, but will open doors for hundreds of other diseases and disorders that previously were "unreachable" simply because of their location in the human body.
This is big.
