SMA Awareness Month

August is SMA awareness month!  It's a great opportunity for people to learn about SMA.  The more people know, the more funding there is, and the closer we get to a cure!
The National Institute of Health has said that SMA is the neurological disease closest to a cure.  And, the cure for SMA could help further the progress of treatments and cures in other diseases, such as ALS and DMD.
SMA has three types.  Type 1 is the most sever, with children often not living more than a few years.  Type 2 and type 3 are progressively stronger.  What was once considered adult-onset SMA is now being classified as type 4.
Type 1 SMA a.k.a. Werdnig- Hoffmann disease is the number one genetic killer of children under the age of 2.
SMA is autosomal recessive meaning both parents must carry the gene for a child to have SMA.  It is fairly common to be a carrier for this disease.  1 in 40 is a carrier.  It is estimated to affect 1 in 6,000-10,000 births.
SMA is progressive.  Once there is an onset of symptoms, there is typically a steep decline in strength with an eventual plateau. 
SMA affects all muscles in the body, usually manifesting in the legs and core first.  The hardest part of SMA to me is the part that is unseen.  It's the loss of strength in the intercostal muscles.  The muscles that I never knew existed.  They are the muscles in between your ribs that help you breathe and cough.  This weakness is what causes so many deaths in children so young.

There is a very in-depth drug pipeline underway for SMA with a lot of hopefuls.  There are two that seem to be most promising. 
One is a treatment via spinal cord injection being done through ISIS pharmaceuticals.  It is gene therapy, meaning they use drugs to actually alter the DNA.  They are onto phase 2 of human clinical trials and so far things are going well.  The injections seem to show increased muscle strength for a period of about six months with almost no side effects noted yet. 
The other is looking more and more like a potential cure.  Dr Kaspar with Nationwide Children's Hospital in Ohio is conducting research that is currently being tested on primates.  It is hopeful that they will move to human clinical trials within the next few years.  Mice that received the injections within the first few days of life, showed almost no signs of SMA 100 days later.  It may be that this proves to cure SMA in children who are diagnosed invitro, or human trials may show that the treatments can be effective for all ages with SMA.  I try to not get my hopes up yet, it's still a long ways off.