I was kind of in a fog as I was driving into work on Friday. Lots of thoughts racing around in my head. All things concerning Getty. Frustrations about doctors mainly and then also frustrations about the lack of awareness for SMA. When Mark and I were given Getty’s diagnosis we had not only had never heard of SMA, but we were equally in shock that this was a genetic disease and that we were both carriers. I remember instantly trying to rack my brain as to who in my family had this and no one came to mind, Mark as well. The diagnosis was terrifying, horrible, and feeling like we were both hit by a truck would be an understatement.
So as I drove on Business 80 to San Juan High School I did a quick, and mind you, unscientific experiment. I drove a bit slower than usual and allowed cars to pass me. I counted every 40th car and thought, “she could be a carrier.” I did this five times before I got to school.Is it possible that those same people I picked out have been affected like my family? Is it possible that they already know they are carriers? Is it possible that they have absolutely no idea what could happen to them in the future? Too be honest I dwelt more on the latter. I don’t think the greater population knows what they are carriers of. And not knowing, unfortunately, has the potential to have them sitting in a neurologist’s office in silence, in shock, and in disbelief that this is the diagnosis of their sweet and innocent child. It breaks my heart every time I think that we aren’t the first family affected by SMA and at this point we will not be the last.
A few statistics I grabbed from the amazing family of Gwendolyn Strong
SMA is the #1 genetic killer of young children.
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 carries 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.
If more awareness happens and more money is donated to research, I can’t help but believe something incredible is possible. If anyone who is reading or knows anyone that has any media contacts to help give SMA a voice, thank you in advance. I will post some incredible foundations that are currently doing an awesome job raising awareness and money for research.