A Strange Answer To A Prayer

I feel like we have had to make so many big decisions lately, that I almost want to crawl under a rock. But life has a way of forcing us to decide. One decision was about Ryan's treatment. Last week the Md's said we should go right to a new medication for Ryan, but because it is experimental I was concerned. So I have been praying to know what to do. The Md's said that we could try steroids again and see if it has any effect since steroids have a lot less negative side effects than the shots. We were instructed to start the steroids when he had a flare-up and try it for 5 days. We were told that it would work within a day or two. So the next day he started with a flare-up, we started the medication and he seemed to only get worse, not better. At first I was frustrated, however, I soon realised that this was an answer. I know that no one wants their child to get "sicker" with treatment, but in this case, I needed to know for sure. AND I am grateful for the guidance we have been given. Now if I could come up with some winning lottery numbers so I could hire a maid, chef, nanny and personal trainer, then we would be in business! JK.

No More Junk Food

We met with the TRAPS "expert" here in Utah. I was very impressed by him. He is actually colleges with the MD that is the leading TRAPS expert in the world. There where some questions I had that he was going to ask him for us. Apparently there are about 100 cases in the world and most people come to the US for treatment at the NIH. There is also another little girl here who is a year older than Ryan that they have been treating. This gives me hope that he will not be such an experiment. Even though he is the youngest case right now, the shots we might do with him have been studied on kids with Juvenile RA. We are not sure how it will work for TRAPS, but we do know what type of side effects we will be dealing with. The bad news, Dr. Prahalad is moving to Atlanta in January. Yeah, I know, that is all we needed. He said we can come see him there or call him anytime, which is good news. I think once we find out how widespread this is in our family we will have to travel for treatment. Now on to explaining the "NO MORE JUNK" title. I think if I write it then I will be more compelled to follow through. I have decided to give up junk. I am going to stay away from sugar and highly processed foods. I know they cause all kinds of problems and are not helping my situation any. I found out this last week that I have a type of endometrial hyperplasia and they are concerned they didn't get it all with the ablation. So if cancer or abnormal cells come back, they will not know until it is upon me "like wild fire". It is looking like I will probably have another surgery this year, however, I'm not convinced these abnormal cells are not related to the TNF in TRAPS. So, next week I am scheduled for yet another procedure to see if inflammatory cells are in my colon as well. I think in the next couple of weeks I will know more about what I am up against. It still makes it hard to sleep at night, however, my gut tells me this is all related to TRAPS. I am so anxious to get my testing back now. So in the end, I am going to be careful about what I eat. I figure it is a pro-active thing I can do with no negative side effects. So any support I can get would be great! I'm not in the mood for cancer, chemo. or one more medical mystery. I need to sleep peacefully again.

Pre-School Has Started

So Davin started pre-school last week. He loves it! Not only does he get to go with friends but he gets his own backpack and homework. They go 2 days a week for a couple of hours. It has been fun having some one-on-one time with Ryan and know that Davin is well taken care of in the process. Also, Trevor had a business trip to LV. He seemed to have a good time, maybe it was all those restful nights? We are happy to have him home, goodies and all.

"I Win"

My favorite saying is "there is nothing more complicated than perception" and sometimes the best perception of all is in the minds of children. That is why I love this clip. Oh to have this type of clarity would be awesome. Enjoy

Mom, I'm not a little kid anymore

So it is happening, our little boy is growing up fast. Tyler has informed us he is no longer a "little kid". For example, Ryan was watching Wiggles and after Ryan left the room, Tyler asked us to turn it off because "it's for little kids". He also told us that Chuck E. Cheese is not a place he should go to anymore because of his age. He feels that when we go to "kid" places, he should just stay at home. I know that he still "needs" us, but this is the first day he has logically verbalized his ideas for independence. Since it wasn't accompanied by ranting, we know that he is not a teenager YET, but it hit me that although he will always be our baby, he is not a little kid anymore.

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