I have been procrasinating writing this update... I'm growing really tired of bad news and haven't had the heart to come back to this blog and write what I need to write.
I'll start with a short update on our trip to Minneapolis. The positives? Dr. Whitley is a great man and a very kind and considerate doctor. He has been studying this disease for decades, so he not only has a wealth of knowledge but is patient and spent much time with us answering questions, etc. Also, the cardiologist gave us an "almost A+" for Jarod's heart. Sanfilippo can cause thickening of walls and valves, but Jarod's heart looks great. He does have some thickening in one wall - about how it should be as an adult - but that was the only thing that kept Dr. Braunlin from giving that A+. Also, in general, Jarod is doing fairly well for a ten-year-old with this disease. He is clearly in a smaller group of patients in which the disease seems to be progressing more slowly. That's a positive, but I still HATE this disease. The negatives? Jarod wasn't interested in doing any of the testing. He tolerated three appointments on Monday and then Tuesday morning started throwing fits every time we parked at the hospital again. We endured much spitting, hitting and cursing going into each of those following appointments. The psych testing showed his mental age is around 40 months...that's never easy to hear as a parent. Never. And then, the night before his scheduled MRI and spinal tap the MRI machine broke. Yep, we travelled all the way from Michigan and the machine broke. Dr. Whitley talked to us the night before and said they were going to work through the night to get it running, had us show up at the hospital at 9:00 Thursday morning where we sat and waited until 1:00 pm to finally have him call it off. Jarod hadn't eaten or had anything to drink and was getting feisty sitting there for four hours. The machine still wasn't up, so the whole thing was scrapped. This now means we will have to travel back soon to get that done... Seriously.
The worst part of the week was Tuesday afternoon when I called home to get messages. We had one from Dr. Thoene (our metabolic specialist from the University of Michigan) asking me to call his office. That's never good. When I got him on the phone he uttered this: "I'm so sorry I have to tell you this, but Caleb's urine test came back very similar to Jarod's." And with that I was done. Crushed. Devastated. Angry. So angry. Absolutely in disbelief. I had to give the phone to Mark to finish the conversation as I was in tears and couldn't speak. When we saw Dr. Whitley on Thursday we had a very frank discussion about the possibility of a false postive which didn't leave me feeling hopeful at all. We spent the rest of the week in grief, just wanting to get the heck out of Minneapolis and get home to Caleb.
I have since had a conversation with another doctor who said she "didn't want to raise false hopes", but had seen rare cases where someone was a carrier but had weird urine results. She stressed the importance of getting the blood test for enzyme assay, for which we are currently awaiting results. It could be a few more weeks there. I'm trying really hard not to cling to that tiny ray of hope, but I'm am totally in disbelief with Caleb. He doesn't have "the look" and he has never had any social/behavioral/developmental delays or issues. He's just a normal five year old boy. He's funny and sassy and smart. So smart. And I can't even bear the thought of facing this disease with both of my boys. Or losing them both to it. Can't do it. I've lost all the fight I had in me this spring.
So continue to pray for us. My prayers have been more like shouts of anger lately. Or begging. Pray for negative enzyme results. Pray for strength for all of us. We appreciate it.