Serafina Katkowski (Charlotte, NC)

By Rene Katkowski

Though we had been identifying and working on Serafina’s many developmental delays since before her fourth birthday, it took until just after her sixth to find Fragile X Syndrome. Sera lives with the full mutation and it was on the whim of our neurologist to run the necessary checks against “low hanging fruit…but don’t worry, Fragile X is rare, even more so in females”. Ha. Ha. Ha.

Although finding Fragile X didn’t really change our approach, it certainly fine-tuned it. And we began to understand a little bit more what was autism and what was FXS. How they flared each other up, and how by managing one element of FXS, we could calm some of her autistic tendencies. Many things helped, though we often quickly plateaued. A few things gave us no response. But onwards and upwards we plodded. I researched and queried, and my beautiful, hard-working, trusting Girl kept up the very inspiring fight.

Then, a little over two years into our FXS journey, I started reading about these new drugs being developed that didn’t just alleviate or broad-stroke over a symptom. These new drugs were touted as actually targeting very specific neuron pathways…actually re-defining how the brain was working…balancing and cooling the firestorm that ran wild in Sera and too many others’ synaptic functions. But I wasn’t ready to trust my sweet daughter’s brain to science or the greater good. Sorry, but not yet. The book Flowers for Algernon had remained with me since reading it back in high school.

Then, joy of joys…because of the bravery of other parents/guardians/adult FXers that I could not find, the trial for STX209 (Arbaclofen) entered Phase III status with Open Label Extension. The initial reviews were in…positive results were reported across the board. No side effects or safety issues. Encouraged that we would have access to Arbaclofen after the clinical trial phase, we applied and were accepted to Emory University’s program with the wonderful Dr. Jeanne. Eight hour round trips commenced. Some for a few hours of appointments, some for mere minutes. All worth every stinkin’ moment.

Serafina’s anxiety lessened it’s pervasive vice-grip hold on her. And in moments of distress, her language remained. Gains were made and tracked at school. **She was able to learn double digit addition AND subtraction two-thirds through second grade this year**. This was huge, as you in the FX community know. Second grade performance night came and Sera not only stayed with her class, but happily danced on stage in front of a packed audience without a care in the world. Amazing. You’ve read similar accounts of success in the other posts. There is truth that even if the primary clinical target wasn’t able to be statistically proven, major life enhancing experiential moments were happening!!

I wrote “were” because now the trial is ending. Abruptly. And I begin to second guess and wonder: how much of what we’ve seen in Sera’s progress this year was Arbaclofen? Did we ever really find her target dosing? Was natural maturity at play here? Her other interventions? June 8th will be our last day dosing Arbaclofen. We end it with a comprehensive executive functioning assessment. I pray so hard…so very, very hard…that when we revisit this assessment in six months we capture only progress. Probability tells me we will move through some regressions. I pray her language stays. Even when she is literally crying through a distressful moment, she keeps her language. Even though it rips my heart apart to hear her try to share, in a broken voice, how hard or scary or confusing something is, she is keeping her words and trying to share them with me. I know what a gift this is. We have several limited-and non-verbal friends, which included, once upon a time, Serafina herself. Sera is so very, very loved. We have been guided only to successes with and for her. She is blessed and other-worldly. My friends outside of the FX world who love Sera will read those words and think, “Girl, come up with some new adjectives for her” and there are so many, but those two sum her up perfectly.

My Girl, my treasure, my dream come true…I will continue tirelessly to fulfill my promise to you: to help you find your potential, feel a sense of belonging and acceptance, be happy and safe, and know love. Dada, Mommy and little brother Jack are your biggest fans, followed closely by so many others. You beautiful creature, this is merely one chapter in our long lives together, and you will champion through.

 

Serafina