So it’s been what ten years since my last post? I’m not sure what I’m going to accomplish with posting again just I’m tired and want to release some of my stresses on here.
Where do I start. We found out why my youngest was going through all he was going through. He has a rare genetic disorder called puff-60 syndrome. Less than a hundred in the world have been diagnosed with this. As far as I know he’s the only one in our state. Neither myself nor my husband is a carrier so it was a random mutation.
It’s a bitter sweet answer yay we know what he was! Boo it’s so beyond rare that we have very little to no answers. There is no cure nor medicine to help him with the enzymes his body does not make. Unless many more people are diagnosed with this genetic disorder little to nothing will be done. It’s not profitable to pharmaceutical companies and if they did make something for it we would never be able to afford it.
