Getty's mom wrote this, and I am sharing it here because I completely agree... this is something I think about often.

An Unscientific Opinion

From Kate:
November 12th was World Pneumonia Awareness Day. I read an article about how children are dying at alarming rates due to pneumonia and it brought back some lingering thoughts I have always had since Getty’s diagnosis. I know that many third world countries are suffering and need vital support to combat pneumonia, but I also wonder if it possible that more SMA children are out there but are not diagnosed in time.

Since truly digesting Spinal Muscular Atrophy, as a mother, I tried to really find some kind of clarity. I needed to know why I had never heard of this disease. I needed to be convinced that Getty was not just victim to a “orphan” disease. I needed to figure out why awareness of this horrible disease is lacking nationwide. When I start sleuthing, I didn’t stop until I was satisfied. So in my unscientific opinion this is what I came to.

I think there is more SMA in the world than we realize. I can’t help but think if children were accurately diagnosed then perhaps there would be a bigger urgency on a government or national level to find a viable treatment or cure.

Let me give two scenarios that stick in my head that I believe, again unscientifically, might actually be a misdiagnosed case of SMA.

1) Getty was diagnosed when she was 4 months old. She has always been a very healthy and robust child. Let’s say, hypothetically, before her diagnosis she got sick and it turned into an aggressive upper respiratory pneumonia. Mark and I would of taken her to the hospital and let the doctors do all they could to get her “through the woods”. Let’s say they were unsuccessful. For whatever reason the pneumonia was too much to handle. Getty would have passed due to pneumonia. I can tell you beyond a shadow of a doubt, the conversation in the hospital would not have evolved into a discussion about genetic diseases and Spinal Muscular Atrophy. We never would have known that SMA was the catalyst to aspiration pneumonia. We would have gone on with life without even realizing that we were both carriers of the #1 genetic killer of young children.

2) Since Getty was diagnosed at 4 months, with me as new mother stumbling through parenthood, I could have accidentally suffocated her. Sudden Infant Death Syndrome (SIDS), from what I have learned, is still an unexplainable sudden death of a child. So what does this have to do with Getty? We know SMA restricts lung capacity of children, so they rely heavily on the diaphragm to breathe. So let’s just say, hypothetically, I left Getty to sleep on her tummy in her crib before her SMA diagnosis and before she got a pulse oximeter to monitor her vitals at all times. We would have never known if her oxygen levels dropped and doctors may have attributed it to SIDS. Again we would have never known that SMA was the catalyst for her passing.

I am not trying to suggest that all cases of infant pneumonia or SIDS is to unidentified SMA child, but can you see how in some cases it might? These are just my unscientific thoughts, but I figured it was something to at least throw out there for discussion.

I wonder if children were diagnosed with SMA earlier and if there was more awareness, perhaps we would see a bigger push for treatment and cure of the #1 genetic killer of young children. Perhaps people would be aware that they have a 1 in 40 chance of being a carrier. Perhaps SMA would no longer be considered an “orphan” disease. Perhaps SMA would be cured.

taysen "ice skating"

I use my little flip cam a lot..  i love looking back at videos of my kiddos.   time goes by so fast and no matter how hard i try to savor the little things, i am sure to forget them.    sat down tonight to upload some videos to my laptop and this one made me smile  :)  

              

just a quick update:

Taysen is doing well in school.  He is an excellent reader and has lots of buddies.  He started a modified schedule recently because he was getting pretty tired in the afternoon.  Tues and Thurs he is going from 10-1 which works out well with the lesson plan.  Hopefully this will allow for more stander time and more time out of his chair.   It is getting a little difficult for me to get him in there by myself so I will be looking into a new stander to make that more achievable.  he has also cut way back on PT due to time constraints..  my goal is to start doing more with him here at home. I have slacked off on this and that is not okay.   Did i mention that he got a new powerchair?  we LOVE it... .it's like a cadillac of powerchairs and is allowing him more independence with moving his body.  pictures of it soon!

New Belt for River

River doing a front snap kick and a round house kick during his belt promotion test.

upward blocks

I missed my opportunity to get another picture of him breaking the board, but he did it!!!  He is holding the board in the black and white picture. 

Master Burger taking off his orange belt and putting on his NEW purple and white belt!

  We are SO incredibly proud of our boy...  and more importantly, HE is proud of himself.  He has worked very hard in all aspects of Tae Kwon Do and has gained so much confidence.  Way to go River!

Halloween

Storm Shadow (River) and Snake Eyes (Taysen).  Jackson was a bull with a cowboy strapped to his back-- He looks humiliated doesn't he?!! 

This is our first Halloween living in town, so the boys went trick or treating yesterday in our neighborhood.  They developed a plan for River to go ring the doorbell, they both would yell "trick or treat"  and then River would take a candy for himself and one for Taysen.    Made me happy watching my boys having so much fun, and Taysen even declared it the best day of his life.