Super Paislee

Super Paislee’s journey in a Super Mom’s own words:

“Super Paislee was born in November of 2015 after a rollercoaster of a pregnancy. Only 16 months separate her and her older sister, Parker.  In the second trimester, we received screening blood test results that she was at an elevated risk for Down Syndrome. Since this is not a diagnostic test, I was sent to a maternal-fetal medicine specialist to find out more.  At that ultrasound, they found that Super Paislee has a hypoplastic nasal bone. This is a red flag of genetic syndromes.

Super Paislee’s infancy is a bit of a blur as I look back. She sat unassisted by about 6 months, crawled at 7 months, and walked at 13 months.  However, I worried early on that she wasn’t meeting other milestones. Around 5 months, I felt that she should be reaching and grabbing for things better, but she wasn’t. At 9-ish months, I was concerned that she didn’t babble much. She never blew raspberries, and I thought her laugh was a little strange because it was never out loud. She would be physically laughing, but with almost no sound. 

At 10 months old, I finally told her pediatrician, “I think she might have autism.”  The doctor said, “No, look at her smiling at me and making eye contact. She is fine. You are just comparing her to Parker who was so advanced.” 

I’d hear that many more times to come. 

Super Paislee’s first word was just before she turned one, and it was “dada,” and shortly after, “ball.” But her voice was very quiet and breathy.  It was like she was working extra hard to get the words out. She could make “noise” (Boy, could she ever!) if it was a cry or squeal. But words were always few and far between, and quiet.  

Between 12-18 months, I was feeling even stronger urges that something was wrong developmentally when she wasn’t pointing, clapping, or copying things. She was also starting to be pretty rigid about routines. For example, she was an exact-time-of-day napper. It was as if her body just couldn’t function as the clock struck 10:30 AM, and she had to nap or it was going to get ugly.  She also began to have a sense of urgency to have two matching objects with her wherever she went. She can have two matching toys, two matching hair ties, anything really! Her favorite is her two matching Spirit horse stuffed animals that have been with her for years now.

Just before age 2, everyone began to notice how “tough” Super Paislee is. Pain seemed to have almost no effect on her. She once fell off a tall barstool onto tile, got up, growled, and walked off…She hit her head on a metal bar during a fall and immediately had a HUGE lump, but hardly shed a tear…She bit completely through her lip and never cried at all.  

We were evaluated by Early Intervention services the month before she turned two, and I was listened to for the first time. My concerns were validated as she scored well below her age in both expressive and receptive language. She received in-home Speech and OT once a week each for that entire year until she turned 3 and aged out. The month before her third birthday, they transitioned her into our local Pre-K program to continue receiving those services twice a week.  

Although she was showing growth by being in school, I was worried that she’d regress on breaks and holidays when they were off, so I found a pediatric therapy center willing to evaluate her.  They have been such a saving grace. She is now putting 2 or 3 word combinations together. Super Paislee absolutely thrives in this environment, loves her therapists, and continues to grow past her goals.  They were the first to tell me that she truly struggled with sensory processing and that we may likely be on a path to an ASD diagnosis.  

I’ll never forget our first appointment with the genetics team and a wonderful doctor who specializes in developmental delay and ASD. She apologized that so many doors had been closed on me as I advocated for my daughter. She assured me that we did belong there. She chose a test from Genedx called ASD/ID. 10 weeks later, in September 2019, we had results; KCNB1.  

Then, the day before Thanksgiving 2019, Super Paislee had fallen asleep in my arms at a restaurant and had her first seizure.  It lasted over 2 minutes and changed our lives forever. We weighed the risks and decided to start an anti-epileptic drug (Keppra) that day. Starting seizure meds was one of my biggest fears. The ER doctors had obviously never heard of KCNB1. I think it’s important to share that, through this group of KCNB1 parents that I had connected with, I had heard about supplementing Vit B6 to offset or prevent the negative side effects of Keppra.  I told the doctors working on her that day that I wanted to start B6 immediately and even though they’d never heard of that, they agreed. I truly believe that is the reason we haven’t experienced the “Kepprage” that is so common on this drug. If you’re a new family to this KCNB1 world, I’ll tell you what our ER doc told us that day:  You are the expert now. You will know more about this disease than (probably) any doctor or specialist you see. You will be their voice and advocate and it is okay to be bossy.

In early 2020, with one concrete diagnosis finally in hand, we got an evaluation for autism, and Super Paislee was diagnosed. Although high functioning, the services and qualifications she has with this dual-diagnosis are exponential. 

Super Paislee’s KCNB1 diagnosis explains every single thing about Super Paislee’s differences and special needs.  We are optimistic about having a diagnosis and a guide to our plan of action. It is scary that the world of medicine doesn’t know much about KCNB1, but we prayed for an answer and an answer we got! To our knowledge, Super Paislee has only had one seizure. We now have a devoted team following her care and feel confident that she’ll outgrow every limitation and meet every goal. Super Paislee is a shining light in our lives and brings joy to everyone she meets. She has never met a stranger, and loves to run up to strange ol’ grandpas and climb into their laps for a great big hug. Interestingly, she runs very well; usually better than she walks.

It is going to be a ride as we navigate this diagnosis, but I’ve got the toughest little warrior to work through it with and the sweetest group of parents to lean on!” — Super Mom Kayla

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