Aria’s PKAN Story

Aria Laurissa Vantassel was born on January 7, 2021. It was the best day of my life. My first-born child and I got the baby girl that I always wanted. 

As Aria began to grow, I noticed that she always hit all her milestones later than most babies her age. I let her pediatrician know that I thought something was going on with my daughter resulting in these delays. Despite my concerns, the doctor insisted that she was fine, and she simply needed more time to obtain these skills. 

Around 1 year old, I noticed that she was tilting her head back quite often and had tremors on and off throughout the day.  She also wasn’t really speaking and just started crawling. When Aria attempted to walk, she would fall almost immediately. The falls weren’t your typical falls either, and were more severe. Unfortunately, Aria made two trips to the ER because of her falls. 

Around 2 years old Aria was finally referred to a neurologist. After months of labs, an EEG, and an MRI, her neurologist recommended we dig deeper and do genetic testing. She was around 2 1/2 years old at this time. 

We received her diagnosis on January 16, 2024, two weeks after her 3rd birthday. I will never forget that day.  It was the worst day of my life. I couldn’t believe what I was hearing when the genetic counselor called us with her diagnosis. When she was telling her father and I what to possibly expect with a diagnosis like PKAN I wanted it all to not be real. Every time we looked at her we would cry and think of what’s to come for her. It took her father and I about two weeks to even pull it together.

I wish so badly that I could just take on this disease for her. Despite everything we are hopeful for the future and grateful for the present.