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2/9/2017 Latest post:
Our journey began in Aug 2012 when this precious boy, we named Conner, entered our lives. We couldn't have imagined then the road that lay ahead. Conner was a great baby, very chill and laid back. He developed normally and hit all the major milestones as expected. Then, at the age of 2 we noticed his speech was not that of his peers. After consulting with his pediatrician, it was recommended that we get him into speech therapy. He continued to progress as expected with the exception of his speech. It continued to be a struggle for him, but his only struggle at the time. In Oct of 2015 I got one of the scariest calls ever from his school, he had a febrile seizure and was rushed to the hospital. We were told it is common and not a big deal so we weren't really concerned, until he had more seizures. The seizures following the first one were different and unprovoked, so off to a Neurologist we went. They ordered an EEG which came back abnormal. They diagnosed him with epilepsy and began medication right away. They also ordered an MRI which is standard in patients with epilepsy. Once the medication was started, things were quiet in the seizure department until May of 2016, however the MRI results through us for a loop. The MRI was done in February of that same year and the results came back a couple of weeks later. It showed some issues that were concerning so doctors ordered genetic testing. They were thinking there might be something that ties the speech delay, MRI results, and epilepsy together. We would find out later that they were right to think this. So in May, Conner had a seizure like the one's before and medication was increased slightly to get that in check, however later that month he would start with a different kind of seizure. These seizures were known as drop or atonic seizures. Again, his medication was increased but it was not working for the drop seizures so it was time to try something else. Medications were adjusted but with these adjustments came one of the scariest times of our life. The summer of 2016 was horrendous! Conner had seizures like never before and they lasted so long that he had to be hospitalized multiple times and receive rescue medication each time. We figured out the medication doctors took him off of needed to be given back to him. Once he began taking the original medication again, it stopped the long scary seizures in their tracks, but the drops still remained. The doctor's then diagnosed him with Doose syndrome, which is a rare form of epilepsy that has hard to control seizures and can cause learning disabilities. While all that was going on, they were working on the genetic testing. The first genetic test came back and showed nothing so they wanted to do an epilepsy panel. This panel looked closely at the genes that are known to cause epilepsy, some of which were linked to Doose. We would not get the results back from the second genetic test until Oct 2016, a year after seizures started. The results this time were not normal, in fact they were downright scary! Conner had two variants on a gene that caused NCL (Batten's), but they were unable to tell if both genes were affected or just one so we (Hollie and Jeff) had to be tested. In order for Conner to have this disease we would both have to be carriers. Our results came back and we were each a carrier of a variant, but that wasn't the end of it. The variant they found in me (Hollie) had never been seen before so they weren't sure if it was disease causing. A blood test was done on Conner to see if the enzyme that these genes make was deficient. It would take 3 months to get the results for a test that should have taken 3 weeks. There were multiple mishaps with this test by the hospital and doctor doing this test. The results finally came in this Jan confirming his enzyme level was deficient, giving the diagnosis of Batten Disease, form Cln2. We were devastated and angry that it took so long to get the results. The results came on a Friday and we spent the weekend taking it all in but on Monday it was time to get to work. It was time to fight for this precious little boy and that is what we did and will continue to do. Conner is one strong, amazing, loving little boy and we will never stop fighting for him. We will do our best to ensure he has the best care possible from the best doctors! We will love him, cherish him, and make as many memories as possible with him. We will do everything we can to make him smile and be the happiest little boy ever! Thank you so much for reading this very long story and for your support in this fight. When we are feeling discouraged and down your support lifts us up to fight another day. For that we are eternally grateful to each and every one of you! Thank you!!