The results are in...

I could just shout from the roof top, I am so excited! Today, we took Landon to have an X-ray done. You may or may not know that he was diagnosed with Rickets when the diagnosis of Cystinosis came. His phosphorus levels were extremely low and phosphorus is what promotes bone health so his bones weren't in great shape... At his last nephrology appointment, they said that we should have the X-ray done to check to see how his bones look now that he has been treated for over a year. Dr. Nyguyen called this afternoon (yes, only hours after we got the X-ray)and said that the difference between the two X-rays were like night and day!! His bones look wonderful!! We spent time talking about some other med changes, additions etc.. At this point, he is doing well, so a lot of what we spoke about today was to be proactive. For example, we discussed increasing the dose of Cystagon that Landon is taking to see how much of a dose he can tolerate. This came from some case studies that Dr. Nguyen read about patients in Europe who take as much Cystagon as they can tolerate (rather than basing it on body weight alone)and there have been reports of WBC levels at .4-.5. Our goal is to keep the level below 1 so to get it to half of that would be incredible! Since Landon really seems to tolerate his meds well, I feel comfortable to experiment a bit to see how much his little belly can tolerate. I also asked her about this little peanut that is growing inside of me now. I may or may not have mentioned that we chose not to move forward with prenatal testing. We will find out after this little one is born if he/she has Cystinosis (by the way, we hope to find out at the end of this month what the sex is, yippee!!). I inquired about the protocol for testing this baby (when will it occur, how)... The baby will be tested the same way Landon was between 2 and 4 weeks of age. They will take blood and send it to the only lab in the US that reads these tests which is located in California. The results generally take a couple of weeks to come back (although we got Landon's back in 10 days as a result of very persistent doctors). They will also perform a genetic test, as they did with Landon, to determine the mutation. The genetic test isn't absolutely necessary and many with Cystinosis have never had this done, but I would like to do it if we have the opportunity. If this peanut has Cystinosis, he/she will not need a feeding tube right away and will not have to be put on Cystagon and supplements right away. It really just depends on electrolyte and cystine levels. The plus for this kiddo is that we will know at a VERY early age so we can begin treatment right away and hopefully not have to worry about Rickets and bone health in the same way that we did with Landon. Only time will tell..