TRAPS Explained

We met with the Paediatric Infectious MD yesterday and were able to get a couple more questions answered. He is fairly confident, just by looking at him, that Davin has TRAPS as well, however, the testing takes 2 months to get back. We are also going to need to meet with the Genetics Department at the UofU. I'm not sure how many answers we are going to get from Md's since Ryan is one of three known cases in Utah. Most Md's that I have spoken with haven only read about TRAPS in literature. We were told that everything is experimental and that there is no cure since it is a genetic defect at the cellular level. All we can do is treat the symptoms. The good new is the type of mutation that he has is not the one that is known to cause death. His mutation is R121Q also called R92Q. He also had a heterozygositc polymorphic mutation on IVS4-33, which at this point no one is sure about. For those of you who are saying "what", don't worry, most Md's that we have spoken to have said the same thing. This is how it was explained to us. First forget the assumption that virus, fungus and bacteria make us physically sick, it is actually cytokines that our bodies produce in response that gives us symptoms. The most important cytokines are called TNF. The more abundant/long lasting TNF in your system the more inflammation and symptoms you have. Most cells are able to absorb these TNF, however, when you get sick the virus acts like a goalie and keeps the cell from absorbing these TNF. The TNF then sends a signal back to the body saying "we need more". So the body produces more until the virus is defeated and the cell can absorb the remaining TNF. While the TNF remain outside the cell, you get symptoms of the illness like inflammation, congestion, stomach upset, etc. It is the TNF's way of saying "let us in". Once the infection (or goalie) is defeated, then the cell can absorb the TNF and symptoms go away. That is why antibiotics work well for bacterial infections, it is because it kills the "goalie" and allows the TNFs to be absorbed again. The problem with Ryan is his body lacks the right gene sequence to let the TNF's into his cells in the first place. It is like he has a top rated goalie all the time- he doesn't need the help of a virus. Something as little as a cut could send the TNF's out of control because his body doesn't understand when to stop. So when Ryan appears sick with something contagious, he isn't. He just has the symptoms- fever, rash, stomach problems, swelling, gunk. Right now we are trying to understand how to treat his symptoms. We have to make major decisions of giving him injections with potentially dangerous side effects or let him push on through. Right now this is what we are trying to figure out. My gut tells me there are reasonable answers out there, it's just trying to find Md's and people willing to work with us. I also believe this is an under diagnosed disease and one day will not be considered as rare as it is today. If that is true, the more "popular" something becomes the more willing people are to help and the closer we come to answers with real value.