Natural History Study, Round 1

Another busy week ahead of us. We (the 4 of us) are traveling to Central Il today after Jake gets off work. Then, on Sunday, Livia and I are flying out of Bloomington to be a part of the Natural History Study being performed at the University of Minnesota by Dr. Whitley. We will be there until Thursday morning. When we arrive home will be the start of the woman’s conference at our church. Very excited for this. Anyway, the study is a very important thing in the world of Sanfilippo. Not only for our generation of children, but for the future of Sanfilippo. Our hope is that one day when children receive this diagnosis it won’t be followed with the word terminal. Not only is this study beneficial for learning more about the disease process, but it is also a requirement of the FDA in order for a treatment to come to the United States (in respect to what is currently being done in the UK.) The days will look like this. We arrive Sunday and settle into our hotel. Monday will be a day of meeting the physicians and signing consents. Jake will fly in Monday evening to meet us. Tuesday we will be meeting psychologists, meeting with audiologists, and more physicians. Wednesday, Livia will be under anesthesia. They will replace her tubes if need be, perform an ABR, MRI, echo-cardiogram, and a lumbar puncture. The lumbar puncture is the only “new” procedure that she’s never had. Livia has to have all of these procedures through the year, maybe twice. So, not only is this part of our regular schedule of procedures, it’s also being paid for. Livia’s physicians and geneticist at home will all be getting the results of the procedures. The other families that I’ve talked with that have gone through this study said that everyone was very accessible, knowledgeable, and friendly. On a side note, I am looking forward to spending some time with just Livi~Lou! The hotel has a really nice water park that we are going to try out one day. Jake and I looked up diner’s-drive in’s-and dive’s last night and we may venture out and find a neat place to eat. Please keep us in your prayers as we travel, prayers for meeting new people, prayers for knowledgeable and friendly staff, and prayers for Livia being patient, brave, and safe! I’ll have my computer with me while we are there, so I can keep everyone up to date. Round 1, here we come. There will be a round 2 and 3, keep an eye out!