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