Emory Appointment

Yesterday was Samuel's big appointment at Emory in Atlanta. It was a wonderful day from the time we left the house to the time we arrived back. Anna was able to keep Hamilton and Jack. She has her hands full with her two, so Kris and I really appreciated her helping us out. We found Emory without any problems, parked quickly, and quickly made it to our office. Which is all huge considering we were in Atlanta and had never been to the Emory campus before.

From the time we entered the office things just flowed well. We waited about 2 min. in the waiting room and in our room for about 2 min. (All of this being so different than our experience at Children's in Birmingham) I expected a nurse to come in for the run down but immediately the doctor came in. He began juggling for Samuel, which Samuel thought was so cool. It was great because obviously Samuel has some anxiety about being at a hospital. The doctor spent almost an hour and a half with us. He was very impressed that we were currently working with the Mayo Clinic. He knows both the doctors there that I have been in contact with. That was so reassuring because one of my goals yesterday was to find a doctor for Samuel that was more than willing to work with Mayo through this. The two test he would have ordered yesterday had already been ordered by the Mayo Clinic. We had the results for one of them for him to look at and the other was the DNA test that we are still waiting on. I felt like such a great advocate for Samuel. We were already two months ahead by having those test completed. The DNA testing takes around two months to complete.

So where do we stand today? Good question. Hyperoxaluria is still not off the table. Diagnosing Hyperoxaluria is not an easy thing. A positive diagnosis can come from a positive DNA test (which we are waiting results on) or a liver biopsy sent off to London showing the defective enzymes in the liver. We hope we don't have to do the second. But if the DNA test is negative, and he still has high oxalate levels then more than likely that would be something we have to do. 25% to 30% of children with hyperoxaluria respond to a large does of vitamin B6. It seems crazy that a natural substance as B6 in your body could help such a horrible disease. But if it does I consider it a miracle medicine. Samuel has been on B6 for over 2 months now. His latest urine oxalate levels are within normal range so that leaves us thinking he may be B6 responsive. The only issue with the disease of hyperoxaluria is large oxalate levels. Too much oxalate being filtered through the kidneys causes stones and damages kidneys. So if we can control his oxalate levels with B6, then he is good to go. The only issue for me at that point is I want another child. If Samuel has this disease, then that means Kris and I are both carriers of it. There would be a 25% chance that any of our children would have it. And that child may not be as easy to treat as Samuel. Some children with this disease are in kidney failure within the first few months of there life because their kidney's are full of stones. So we will just have to cross that bridge when we get there.

For now, I am thrilled with our new doctor. God was so good sending us the direction of Emory and Mayo. I left yesterday feeling like we were in such good hands. I always left Children's in Birmingham thinking there is more we can do and that we weren't doing everything we could to help Samuel. That was so stressful and frustrating and I was always researching and looking for another door. That door has now been opened, so I feel like I can sit back now and just trust our doctors. We will wait now on the DNA test and go from there. Samuel will continue the B6, large fluid intake, and renal ultrasounds every 6 months to look for stones in his kidneys.

I continue to be amazed at God's faithfulness throughout this process. I truly feel like my steps have been ordained by him. I am so grateful for the opportunity to be the mother of my three amazing boys. We are so blessed.