Our journey began almost a year ago with our sweet angel. We had no idea that even though Kylee wasn't hitting all of her milestones growing up, that it was something we had to worry about to much. When Kylee was 6 months old we decided we wanted to voice our concerns a bit more and changed pediatricians to get the answers we wanted, and we are SO happy we did! At 6 months Kylee had her first MRI
on her brain and some blood work to make sure her liver, kidneys and muscles were functioning correctly. When her doctor called with the news of the MRI it was heart wrenching. She told us that she "might" have something called Joubert Syndrome. We had never heard of this before and as new parent's you can only imagine our fears of the unknown. She said that she had multiple radiologists examine her scans and they weren't able to tell if this was something she had or not. She then referred us to a Neurologist at both Helen Devos and the U of M Children's Hospital. Our visit with the neurologist at the Helen Devos Children's Hospital was promising, as he told us we should have nothing to worry about and he didn't see any signs of this syndrome. Kylee's pediatrician disagreed with his diagnosis and urged us to still go to the U of M. She also ordered a EEG for Kylee since she thought that maybe Kylee was having seizures. (Her EEG came out normal!!)
Kylee was about 8 months at this time and we made the long trip down there to see Dr. Carlson. After her consultation she stated she couldn't see the scans very well and wanted to bring them to a conference she was going to to have "many" doctor's and other's look at her scan's to give their opinion. About 1-2 months later, she called and said that it does look like she has some of the symptoms, but we won't be 100% accurate until we do genetic testing. At this point we were all over the place as parent's not getting the answers that we so desperately needed and wanted to know what was going on with our daughter! We had started with a great program called Early On to help Kylee with occupational and physical therapy. In January 2014, we met with the genetics doctor and he examined her and checked out her MRI scans. He stated that he was going to send our information to a specialist in Seattle who is familiar with Joubert Syndrome. He felt that he would be able to give us more answers since he is the expert. He also ordered genetic testing be done on Kylee and an ultrasound to check on her liver and kidneys and make sure they were still functioning as they should be. (Her ultrasound came back good! Thank god!)
The doctor in Seattle came back to say that the MRI did show some subtle signs of a child with Joubert Syndrome. We had the genetic testing done in the beginning of February and got the results in the beginning of April. Kylee did have Joubert Syndrome. She has 2 genes. Each of these genes has a significant affect on her living. One can cause water on the brain, but we were told that since we have not seen anything at this point, we should be in the clear. The other gene can cause seizures. We just have to monitor her to make sure we aren't seeing any signs of a seizure from Kylee. During this time Kylee has also been seeing a Pediatric Ophthalmology Specialist for her vision which has to do with the Joubert Syndrome. She has what is called Alternating Nystagmus, Saccadic Optical failure and something else which is a medical term that I yet to figure out. As of now we are still coping with the news and adjusting to the new ways of life to make sure Kylee gets everything she needs. Lots of blood work and check ups. Joubert Syndrome is something that will forever be a part of Kylee's life. There is no cure for it. We have to do everything we can to make sure she has the best life possible and keep a close eye on her at all times. She is our angel sent from above and we will love her to the moon and back!! : )
