February 2020
"Our story began when our daughter was around 7 months of age when she stopped hitting milestones. Our pediatrician said give it time. She’s just going at her own pace. As each month passed, we became more and more worried. Our pediatrician finally agreed with us that she was indeed behind. He referred us to a neurologist. The neurologist ordered an MRI which showed her gray matter was not as developed and she had a thin corpus callosum. He was not worried at the time due to some children just being behind and eventually it would correct itself. She received the diagnosis of Globally Developmentally Delayed at 1 year of age.
Another year had almost passed, and we did not see any more gains. All of our doctors asked about seizures and we said we do not believe she is having any. I stayed home with her one day and she had a cluster of seizures and I could not calm her down afterwards. Kinsley has always been a happy and easy child. I began googling seizures and watching videos of other kids having seizures. (I have spent many long nights combing the internet comparing my daughter to others and praying I would find an answer. I was desperate for answers.) After searching for about an hour, I came across a child doing the same slight head drop as Kinsley. I was stunned! And so mad at myself! How can a slight head drop be a seizure?! If you blink, you would miss it! She has been doing this since I could remember, and in front of so many other people and doctors. I called our Neurologist immediately asking for an EEG. We were in within a week and the EEG came back with showing she did, in fact, have seizures. We met with the Neurologist and he then diagnosed her with Left-Hemiplegic Cerebral Palsy. Kinsley was 2 years old. We were so relieved we had an answer. I thought, ok I can deal with this. There is a ton of info available and doctors are very familiar with it.
Prior to realizing she was having seizures I made an appointment with a Developmental Pediatrician to continue my search for answers. I decided to keep the appointment after her 2nd diagnosis. The more people to help us navigate CP the better. We met with her team of therapists and they did an entire eval on Kinsley. The pediatrician spent over an hour with our daughter and asking us a multitude of questions after the evals were complete. She had a few concerns stating Kinsley’s muscles didn’t quite match up with CP. Her right side is definitely weaker, but she still utilized her right hand and was a transferring pro with toys. She was also concerned because usually children with this type of CP are generally mentally healthy. She decided to order several DNA tests. When we left her office, they had been closed for over an hour. I will never forget thinking to myself that this woman was a Godsend! The love and concern she showed for our daughter were overpowering.
5 months later and we finally receive a call from a geneticist. She wanted to meet with us in person to go over the results. I remember walking in feeling anxious, but never did I think we would receive the news that we did. That one appointment changed our lives. Our daughter had BPAN. I remember sobbing uncontrollably, and the worst is that the Geneticist didn’t even have that much info. She pulled some papers from a study done in China that was in scientific terms and was impossible for us to follow at the time. (Now I feel like we are pros and can read and understand scientific medical jargon) She knew that there were less than a 100 cases worldwide but the one thing she did state that would be the one word I took from the entire appointment was that it was “Regressive”. CP is not I kept saying over and over wishing that they were wrong, and our daughter did have CP. So many emotions overwhelmed my husband and me. Our life was a blur for the first few months after receiving her new diagnosis just shy of her 3rd birthday.
Fast forward to today, and we now have a 6yr old. Kinsley is still her happy, laid back self. Her 4 favorite things, in order, is kisses (lots of kisses), swinging, reading, and swimming. She is non-verbal, does not walk, her seizures are under control with meds and is still around 9 months mentally. We have OT, PT, and speech twice a week. We have 7 specialist we see throughout the year to help guide us with her health and each of those specialists are now very familiar with BPAN. For us, that is a HUGE win! We have had very few gains in the last couple of years, but she works harder than anyone I have ever met! She has definitely become a little bossier in the last couple of years! We love and adore her. We live in the now and try not to dwell on what her future may hold. Don’t get me wrong, I will fight until my last breath on this Earth to banish this disease. But, all considering, she is happy and healthy. She was sent her to teach us to love unconditionally, to be thankful for what you have, and to not dwell on the what if’s and why. She is our angel and honestly our saving grace. I never realized the strength and determination we had until this little girl entered our lives."
