Parker is an 8 year old boy diagnosed with Juvenile Batten Disease on 11/25/2014. Just as kindergarten was starting (Aug. 2012) I started to suspect his vision was not being properly corrected, his glasses didn't seem to be helping much. Still not seeing much improvement I started seeking out new optometrist. In February of 2013 we started our journey to figure out what was going on. At our appoin
tment the doctor said he felt there was an issue with Parker's retina (vision was at 20/40) and referred us to an ophthalmologist. In April we met with the ophthalmologist, his vision had already declined to 20/100 and we were quickly referred to a retinal specialist. The next week we saw the retinal specialist and his vision had again declined, this time to 20/200. Legally blind, how did this all happen so quickly! He said Parker most likely had a retinal disease called cone rod dystrophy and his vision should not get much worse. He had an ERG to confirm the diagnosis, we were told that is what he had and that there was really nothing we could do for him. At this point, I was happy to hear his vision should not get much worse. Blind people do great things all of the time, and we were not going to let this hinder him. We enjoyed our summer and spent lots of time at the beach. On to 1st grade Parker went! I had decided to get Parker set up with a retinal specialist and ophthalmologist that work out of the same office. So after some research we ended up at UIC, and were very happy with our visit. His vision had declined some more so we went ahead with some genetics testing to determine if we could tell anything more specific about his cone rod dystrophy. Six months later we went for our next appointment and to discuss the genetics testing. The testing didn't show anything, but his vision was still declining. At this visit he was at 6/400, and this should not be happening with cone rod dystrophy. We were referred to the Chicago Lighthouse for the Blind and visually impaired were we would see Dr. Fishman. We would finally have our answer and hopefully be more educated on which retinal disease he has. The appointment finally came, I was actually excited because we were told we should leave with an answer that day. The appointment itself went great! Parker was a superstar and didn't complain once! I had also expressed some concern about Parker not sleeping great, and that his behavior had not been typical for him (I just assumed it was because he was frustrated with his constant visual changes). When it was finally time for Dr. Fishman to come in I had a gut feeling something was wrong. Dr. Fishman checked out a few things in Parker's eyes and then said he thought Parker may have something called Batten Disease. He did not want to go into details in front of Parker and we were told we would not like what we read when we researched it. We were told it was not a retinal disease, but a central nervous system disease, and he felt that it was necessary to get him tested right away. Lets just say the car ride home was not an easy one. We looked up Batten Disease and cried the hour and a half ride home. I kept saying, remember he is not 100% sure, this is just where he felt we should start. Carver Laboratories were so generous to run the test off of his DNA that they already had so that Parker would not have to have blood drawn again. A week and half later I got the phone call...I'm sorry but Parker has tested positive for Batten Disease. WHAT!! This cannot be happening, I will take any amount of blindness, but not this! I never thought I would go to the ophthalmologist and be told my son has this awful disease. Parker has Juvenile Batten Disease or JNCL. Juvenile Batten Disease is an inherited disorder that primarily affects the nervous system. After a few years of normal development, children with this condition develop progressive vision loss, intellectual and motor disability, speech difficulties, and seizures. Affected children may also have heart problems, behavioral problems, and difficulty sleeping. Eventually, children with Batten disease become blind, bedridden, and unable to communicate, and presently it is always fatal. There is no cure or treatment for Batten Disease! He already has vision loss (and is quickly deteriorating), a hard time sleeping, and behavioral issues. We need to raise awareness!! We also need to raise funds for research. Research is the only HOPE we have to find a cure or treatment. Thank you for taking the time to read this!!
