An Unscientific Opinion
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.
I too have thought these scenario’s, especially the SIDS. It scares me to think what could have been before a diagnosis. I think all OB’s should be offering the saliva carrier testing. Good discussion Kate.
I have also had this very discussion with people.. It is actually scary because before Ford was diagnosed he did sleep on his belly. We tried his back but as soon as we put him on his belly he slept through the whole night at just 3 weeks old. I often wonder if I ever put him at risk by allowing him to sleep on his belly…he seemed so comfortable.
Kate, I totally and completely agree with your unscientific opinion. SMA testing should be – at the least – included with the newborn panel, and pre-natal testing should be offered universally. But, more than that, people – including most doctors – need to be educated about this disease.