Jaylene’s journey

---

The beginning of this year has been by far the most difficult for my family... the year started off amazing with the birth of our second babygirl Jaylene but quickly our happy blissful moment turned into the biggest fear of our lives when Jaylene began to have seizures, we lived in the hospital all of January and she went through multiple tests everything from lumbar puncture, blood tests, ct scans, EEGs I mean every test imagine-able!! Drs could not figure out why she was having seizures when everything came back normal. Finally after being put on 2 seizure meds and multiple test and 3 back to back hospital admits the head of the neurology department suggested one last final test... a gene test to see if the cause of her seizures could be related to a gene issue.... we agreed hoping for answers.... her seizures were finally lessening going from 7 in one day to 1 to 2 every other day.. February 7, 2018 I got the phone call confirming the diagnosis that she had a gene mutation called STXBP1! At first I was relieved to know answers but then after some research fear and panic came when I found out what that meant...were told that it was a rare gene mutation only 400 cases worldwide were known to have this mutation, developmental delays, possible autism and many more, the seizures were the least of our problems... I struggled for months crying, angry, in denial why us, why her!! What did I do wrong, was this my fault ?!? So many questions and so much anger... why my perfect baby that was born completely healthy now has to face so many challenges not just physically but emotionally and with society.... My depression was winning and I felt useless! I couldn’t help her, I wished I could take this from her I prayed to god to please take this from her and give it to me... it wasn’t until my mom found a support group that I realized that this was indeed real and if she was going to have any chance to succeed I needed to act fast and get out of this dark hole I was going in.... after joining and talking with other moms I felt like I was not alone in this battle when I purchased a book I saw on the Dr Phil show called how to be the best advocate for your child with autism and other genetic disorders by Areva Martin it made me realize I needed to get out of this funk I was in and stand up for my child and be her advocate. Since then we have started multiple therapies such as Physical and speech therapy and we have found a neurologist that has a history with her genetic disorder. All the anger and safeness I was feeling I put all that into finding resources to give my daughter her best chance at life. It’s not easy we have our bad days as well as our good days but like we say in our stxbp1 parents alliance support group in fb we take it day by day and celebrate our children’s inchstones (not milestones due to our babies will be slower at developing than normal children). If your interested in following the stxbp1 parents alliance please add the group on Facebook as well as parents with kids of stxbp1 as well as jays journey which talks about our little Jaylene and her journey with stxbp1. Your not alone as I learned.