Latest results

We have been waiting quite a while for the last test to come back. It finally did and the results were as expected…normal. This means that Jacob has had every blood test run that has been found thus far to show Batten Disease. We ran CLN1 and CLN2 two times. We ran an extensive test on CLN3. We ran CLN 5, CLN6, CLN8 and CLN10 (which can not be ran in the US) and all were negative. These tests are supposed to determine what form of Batten Jacob has. We still don’t know. What we have right now is the skin biopsy that clearly shows two of the 3 markings that can only be found in Batten Disease. The skin biopsy trumps all bloodwork as far as a Batten diagnosis. Even though the blood shows nothing, this is a positive diagnosis. Aside from the biopsy, Jacob has clinical signs and has shown progression of the disease. We currently have a researcher in NJ that is running a different test from fibroblasts made from another skin biopsy. He specializes in late infantile and hopes to find our answer. Aside from that, we will have another blood sample sent to a Dr. in London who is gathering a data base of all the unspecified cases in the hopes of putting something together. What does this mean for Jacob? It puts him in the rarest of the rare.  Aside from the devestation knowing he has this disease and no cure, not knowing which form he has is worse. Different forms of this disease can be found in either a protein or an enzyme. We cannot submit Jacob for any research trials without knowing. An example, if enzyme replacemet therapy were to work, it would not help Jacob if he has the protein issue. This leaves us with the clock still ticking against Jacob. We still have a little boy who has so much to live for. It is crucial that we find our answer. Funding for research is so little and more children are dying from this disease because of this. These children are losing more and more each day. I know it’s hard to imagine seeing a child lose everything right before you. For us, that is reality. We see him have to struggle daily. We know what is to come. We never know what the next day will bring when we kiss him goodnight. Each day is a gift. A chance for us to create more lasting memories. A chance to see him change the world. I am honored to be Jacob’s Mother. As hard as it is, there is more joy and the opportunity to see God working through him. We know Jacob is going to continue to affect the lives of  his brothers and sister in ways we can’t imagine. Along with our determination to help Jacob, we are trying to see the good in all of this. We know God continues to be with us on this journey and we are trying to be patient with Him. In His time, we will know more….

We do have a major appt. coming up on Oct. 1st. This is with his eye specialist. He saw some changes last time that were not present 6 months prior to that. We are scared this time. I pray we are still a ways off from him going blind. Please pray for us.