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Today we had a visit to the cardiologist at U of M. Simon last saw them when he was just a year old. Cardiomyopathy (thickening of the heart walls) is more prevalent in people with PKS. In November, the PKS family lost a little girl who had cardiomyopathy--she was just about 18 months old. Simon, for the last 6 months, has had some minor things which put together started to worry me. His fingernails have been blue quite frequently. His toenails and toes and feet too. Also, he has started to take much longer naps in the afternoons at school. My mind started getting nervous about this appointment.
But, his heart is perfectly healthy! He has an innocent murmur which is very common in kids his age. He has a very low blood pressure (82/50) and a low heart rate, but again, those are normal for him they though. The murmur may leave or not, but as long as it doesn’t grow stronger or louder, we don’t have to be concerned. The blue fingers and feet are due to either his lack of activity or due to the autonomic nervous system which isn’t sending the typical signals out. That is why his feet are always cold too!
Thank God all turned out well. He doesn’t need to go back for 5 years! Cardiomyopathy may always be a threat, but not everyone with PKS develops it and there is no specific age that it may show up at. We'll just keep watching for it.
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