Visual Aides Are Good Too!
Since August has begun, I have been trying to find all kinds of ways to get awareness into the general community. I can only imagine to the outside world, SMA can look scary and the science behind can seem very well, scientific.
SMA is scary and it is a devastating disease. All it does is take. As I write this, SMA is currently robbing my sweet daughter of her muscles and all I can do as her mother is to give her all the love and all the opportunity to thrive in a world that doesn’t modify much for the disabled. She is currently watching A Bugs Life and loves it by the way. She always giggles when Hopper gets fed to the baby birds. I always do a double take and look at her and wonder, does she know why she is laughing? I swear she is an almost 4 year old child trapped in an almost 17 month old body. Her mind is so incredibly curious and always working. We have heard that is the same for most children with SMA. Little brainiacs, and I love it. I just wished that SMA were not part of the equation.
SMA is also scary in that when I say it takes, I mean it takes. Two absolutely beautiful little girls have now become angels this week due to this horrible disease. They shared the same zest for life that Getty does and it breaks my heart every time I hear of a new child earning their wings, it simply isn’t right. It reminds me that as a mother I can’t waste a single second with Getty because you literally don’t know what tomorrow will bring. But I do know is that while their time here may have been shorter than most children, they were loved beyond belief. Their parents gave them every single opportunity to live life as their own and were surrounded with all the love and support any child should receive. But they too deserved more time with their mommy and daddy. I hate SMA.
The scientific aspect of SMA might be difficult to understand and just when I was trying to formulate what I was going to say, a visual aide dropped into my lap just like that. So here it is, take a look at it and I will discuss it further in a second.
Okay so for a moment let’s name these two people, Kate and Mark.
Kate and Mark unknowingly have been SMA carriers all of their lives. Carriers do not show any symptoms of the disease, they are just carriers of this recessive gene. Since they are carriers, that means they must have been given this recessive gene for one or both of their parents.
So they went about their lives. They grew up, played sports, went to high school, they graduated from college, they got careers, met and fell in love. 🙂 Still never knowing they were carriers because no one in their immediate or extended family were affected by SMA.
Got married, never got tested, got pregnant, never got tested, had a beautiful baby named Getty with SMA.
You might be thinking how does this all happen? So here is where the visual does a great job of explaining.
Kate and Mark are each (1) in the 1 in 40 people unknowingly carry the gene people. They unknowingly passed SMA along to Getty. Since they are both carriers they had a 25% chance of passing SMA along to Getty.
Theoretically every time Kate and Mark have a child, there is always a 25% the child will have SMA.
The reason for this visual is not really to show how you pass along SMA per see, I mean it is, but what I would like to focus on is the passing of the SMA carrier gene.
If you are a carrier you have no symptoms.
1 in 40 are carriers.
Do you see how many people we are literally talking about that don’t even know they are carriers?
So basically carriers are also creating carriers, so they are multiplying essentially and most of you don’t even know it. That is what scares me, frankly.
Can you imagine how powerful it would be to find out if you at least carry the SMA gene? You could be educating your entire family for generations just with a simple blood test.
So now what? My hope is that in some way I can convince some of you out there to get a SMA carrier tested. Even if you have healthy kids, even if you have no prior family history of SMA.
So how do you get one? Most insurances cover the test. I am currently working on whether Medical pays for it, and as of right now I think it is a no, but I am doing more research. You just go to your doctor and you say, “I’d like to find out if I am a SMA carrier.”
It is a simple blood test.
If you don’t have insurance there are a couple of companies that do make the test and can be administered in a lab or doctors office.
Here are a couple in alphabetical order:
Genetic counselors are terrific resources for anyone that might have even more questions about the test and the science about SMA. We work with our genetic counselor all the time and she has been a tremendous help.
Even though i am done having kids, i am going to get Damien and i tested-that way i am looking out for my grandchildren-cause if we have it then maybe the boys do too…
I have five grandsons and I was thinking exactly the same thing. I am only the second generation of my family to be born here in the US. I would have no way of knowing if this had ever shown up in the family in Greece over the past 80-100 years. The recessive gene could rear its head at any time as Kate has so clearly shown us…..great graphic…helped a lot! So yeah….This is right up on my priority list. Thanks Kate and Mark….and sweet little Getty Owl!
So well put. Thank you for the graphic. I tweeted this. 😉
Thank you Kate, for REALLY putting a face on how this awful disease can be passed on. While I’m beyond my child bearing years, I can only hope that future parents get tested, and that this becomes mainstream for all expectant parents. One more tool to help “do away” with this nightmare. You have become such a leader in our area, that I would love to see you on a national level. Something like the the Today show, or GMA. You and Mark come across as routine parents, and I know the nation would fall in love with your family. YOU are what people can relate to. Not the people in the medical field. I hope you know what I mean by these statements. While your plate is full, maybe this is something to think about. You and Mark have been so amazing, and of course, the real star..Miss Getty!
Thanks for this post. Rachel and Sarah can definitely use this when educating people as part of their Silver Award. Hope to see you all soon :))
Leslie & John