The latest in our search for answers

As most of you know, all we have to go by for Jacob’s diagnosis of Batten Disease (NCL) is his skin biopsy and clinical signs. All genetic testing known at this time for Batten Disease has been negative. Some of the genetic testing was run twice. We have been going back and forth talking to Lance at the BDSRA trying to get the next step set up. He has helped us so much on our quest to find what form of NCL Jacob has. In the last few months, we have been busy getting the pictures of Jacob’s biopsy sent out to some Dr.’s/researchers to verify what the Mayo clinic had seen. At first, it was requested that Jacob have another biopsy since what we first sent out were not clear to read. Our copies were photo copies of the original so we were able to get a hold of the originals, scan and send out. That made a huge difference and a second biopsy was no longer necessary. At this time, there is no longer any question on IF Jacob has this. What has been seen is convincing enough to say the Mayo is correct.

 There is a Dr. in London who is the lead coordinator for all researchers looking for new forms of NCL. We are talking with her and she is trying to help us. She had asked for me to email her a brief history but I sent her a small journal! I don’t think she was prepared to learn about Jacob’s complex medical history before this diagnosis! She also requested some other results and summary reports. One thing that was said so far is that the skin biopsies are the most decisive way to diagnose  Batten Disease even when all genetic testing is negative. It is also stated that this is a very unusual case. We are very excited to know that we have the top researchers in the world interested in Jacob’s case! How awesome is that? There is no guarantee that they will be able to find our answer or if they can, it may already be to late. Still, we have to hold on to our thread of hope that they will find out in time to try and save Jacob. I still have people asking why is this so important to know. Why put ourselves (Jacob) through all of this? We could sit back and do nothing but that will leave this disease to continue to take our little boy away from us. Little by little, it will take everything away from him in the most horrific way imaginable. By doing all of this, it leaves a door open to find a cure for him. Since this disease has different forms, the trials are different as well. There is a study going on at Cornell University right now for late infantile (LINCL) Batten Disease. The juvenile (JNCL) has a drug trial coming up as well but still short on funding.  We cannot even submit Jacob because he is unspecified NCL. It hurts. It hurts not knowing because we can’t help him. At least, we can’t help him in a way to stop this disease.  It is promising to hear that there are trials in the works. Researchers are encouraged that these trials may lead to a cure or if not, perhaps a treatment to slow the process down.

Someone recently said that they do not want to look at their child as dying from Batten Disease but living with it. I think those are very powerful words. I have seen and heard how Jacob’s life has affected others. That is God’s grace working through Jacob. It is beautiful to see and I am so Blessed to be part of that.

Please continue to pray for Jacob and all the children who are affected with Batten Disease. We would be so thankful if you are able to share this link with others so we can continue to raise awareness about this very rare disease!