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.

A crazy life and School

I know it sounds crazy but I had another surgery yesterday. Besides being a little tired, I am doing well. My mom took care of the kids all day yesterday and Trevor took today off of work so I could sleep. Thank you to both! Hopefully this is the last surgery for a while. I've decided that I don't handle morphine in IV's very well.

Also Tyler started school on Monday. He loves his class so far (yeah). He started the 5th grade at American Leadership Academy. They are starting a sports track in two weeks where he will play soccer, gymnastics and basketball throughout the year. He is excited to learn all about sports he didn't pick up in his "younger" years

True Genetic Mutants

Right now I'm flooded with emotions. Not sure if I'm happy to finally know what is wrong with Ryan (and probably the rest of us) or upset that it took this long to get a diagnosis or scared for what lies ahead. But, I do know that my prayers have been answered. It's funny that I got the answer long before the Md's. Kind of like "living on a prayer". I know most people thought I was nuts, but in the end the prompting I was given was right on (imagine that). So it turns out that Ryan has an extremely rare genetic disorder called TRAPS (Tumor Necrosis Factor Receptor-Associated Periodic Syndrome-TNFR1) also known as Familial Hibernian Fever. Apparently it is an autosomal dominate disease, which means this could explain all the "weird" medical issues our children have been having. At this point I don't know much more than what I have read in medical journals, but the specialist that he has been seeing is going to send us to other specialists who deal more with this type of disease. Since I just got the information this morning, I'm not sure what the next couple of months are going to be like. I'm sure they are going to want to check several things including the rest of us since it is an inherited disease. The infectious disease MD said that in the 3,000 cases that he has tested, only one other person has tested positive. This means he needs to check with the heads of other departments at Primary Children's to see where we need to go from here. At least we are getting closer to understanding how to treat our children when they get sick instead of throwing one medicine after another at them, hoping that the "problem" will go away. I'm very thankful for a wonderful Pediatrician who fought so hard for Ryan and loved him every step of the way. Without her we would still be wondering what we were doing wrong and possibly doing more harm than good. I mean we have plenty of years to mess him up, we didn't need to get it all in during his first two. Thank you Dr. Kendall and thank you to all our family and friend who supported us as well. I have been blessed by being friends with some of the "salt of the earth", who loved instead of judged and supported when we needed it the most. Thank you, Thank you, Thank you!!!
http://www.wrongdiagnosis.com/medical/hibernian_fever_familial.htm