Update on eye appt.

Jacob’s eye specialist said he did not see any progression with Jacob’s eyes from the disease. Specifically, the retinas. He is sending him to a retina specialist to get a closer look and take pictures for a baseline. That appt. is next month.

I was so scared about this appt. It’s hard to know that one day, Jacob will lose his vision. That said, I am looking at him, watching what he does and question what is what. For instance, he will get his colors wrong but then get them right again. He was trying to make a square out of golf pencils and had great difficulty. He has had a hard time when I ask him how many fingers I am holding up and getting 3 and 4 mixed up. He’ll do those type of things but then do something else that tells me he’s fine. When I mentioned those to the Dr., he said those are not visual things but processing issues. We already know that he has processing issues. He said a child like Jacob could have 20/20 and walk into a wall. I can see what he is saying.

Jacob does have visual change though. I know I just said no progression but this change, according to the Dr., is due to an astigmatism that he did not have before. Jacob wore glasses from age two until about 6 months ago when we were told he was 20/20. Now he will be wearing glasses again. We will be doing some eye patching about a month before his next appt. with this Dr. which is now in 4 months instead of 6 months. As much as I can say he looks very handsome in glasses (which is preferred by his Birthmother too!), it will be a constant reminder on what is coming. Aside from knowing the outcome of him having this disease, him going blind is hard. It hurts knowing he is going to lose everything and that has to be his vision too. Why can’t these kids at least hold on to that?  Instead, they enter a world of darkness and at the same time, lose everything else.

I talked to Lance at the BDSRA (Batten Disease Support and Research association). He is the director there and a Batten parent who’s daughter lost her batten in 1992. We talked for a while on where we are standing on things. As always, I ask if he thinks it could be another diagnosis. As always, the answer is that he still has Batten. We can’t argue with the skin biopsy with clear results and clinical signs. He has been emailing a Dr. in London about Jacob. She has an NCL (Batten Disease) gene database and is working on unspecified cases like Jacob’s. We will be adding his blood sample soon. This is another time where the whole genetic thing makes my head spin. I have said that we tested all the known genes that have shown Batten and all have been negative. It turns out that there is still a possibility that he could have any one of those forms. There are non coding regions in the genes that are not mapped out and that is where our answer with Jacob could be. Lack of funding only takes research so far but this research could provide us with hope not only for Jacob but other cases like his. It is still most likely that he has a new variant of Batten. Again, funding for research is lacking. I know they are working hard on a treatment or cure. Our reality is that it most likely will not happen in Jacob’s lifetime. We will not let that stop us from fighting for him. We can’t! We still pray for a miracle for these kids. This disease is so brutal. Last week, it took the life of a little boy (age 7). That is hitting me hard as Jacob will be 7 next month. Today, it took the life of another child who had the Juvinile form. Devestating. Those children are at peace now and that is a Blessing but even knowing that, it still hurts so much. I don’t want to be in that place.

 I know Jacob is so full of life and knows how to work a room full of people. He can capture a heart in an instant. I also know that things can change overnight. Jacob once knew his entire alphabet,  lost the ability to recognize most but has now regained many. He loses skills, he gains some back. He is still capable of learning and he continues to prove to us that he can. His behavior can be all over the board with good days and bad days. When I talk to Lance about these things and more, he always says “it’s the nature of this beast”. Well said…it is a beast. A horrible nightmare of a beast. This beast, this disease, is still ahead of us and it is always taking something away from these kids. Each day we are reminded of how precious life is. How simple moments that could easily be taken for granted take our breath away. Each day is a gift. We are so Blessed with the most amazing little boy. We are so Blessed to have 3 other children who give us so many happy moments that seem to come at just the right time. As aways, we believe that God is with us and will guide us on this journey. He knows what we need. We have to trust in Him.