Sofia is a silly six year old who is known as having the most loving and warm presence. She lives in New Waterford, Ohio with her parents, Stephanie and Rodney, and little sister, Addi. Sofia loves watching Disney movies and swimming! This month’s ‘Known & Loved’ t-shirt design is inspired by Sofia and her journey with Leukodystrophy.
We invite you to watch her video, read her story and subscribe to our podcast to listen to a couple conversations with her parents.
On July 20th, 2015, Stephanie Kale welcomed her first baby girl, Sofia, into the world after a perfect pregnancy and delivery. As a baby, Sofia was happy, easy-going, and fed great.
As Sofia continued to grow, Stephanie began to notice some concerns such as a speech delay around two years of age and gross motor delays around three years of age.
“I kept being told that all children develop at their own pace, but Sofia had been in gymnastics for a year-and-a-half and never seemed to progress like the other children. Then one day we were at gymnastics and I was helping Sofia walk across the balance beam when she abruptly froze. At first I thought she didn’t want to participate, but then she went completely unresponsive, stiffened up, and started gasping. I had never seen a seizure before but there was a nurse there who quickly called an ambulance. On the way to the hospital, she had another seizure,” Stephanie recalls.
When they got to the hospital, an MRI showed lesions on Sofia’s brain. Doctors diagnosed her with epilepsy and Periventricular Leukomalacia (PVL) which is typically seen in babies who are born premature or experience a brain-injury at birth. “That diagnosis didn’t sit right with me because there were no complications during my delivery and Sofia was born at 39-weeks.”
Over the next year, Sofia tried many medications and went on a keto diet to help gain control of the seizures. Things were going well until Sofia had to be weaned off some medications, and then the seizures came back strong. The family struggled to regain control.
During that time, Sofia continued to lose skills that seemed effortless before, but doctors continued to associate her regression with the epilepsy or as a symptom of the medications. Unsatisfied with the answers, Stephanie sought out more testing to explain Sofia’s continued regression. Then in July 2020, a follow-up MRI showed delayed white matter in Sofia’s brain along with signs of cerebellar atrophy. The PVL diagnosis was thrown out the window, and the family was given a new name, Leukodystrophy.
Leukodystrophy is a rare genetic disorder that affects the white matter of the brain and subsequently, the spine. Through Whole Exome Sequencing, the family learned that Sofia’s condition was caused by a random mutation on a protein-coding gene called ‘eif2ak2’ which is responsible for immune regulation in the body. Ultimately, the mutation in this gene means that things like environmental stressors, illnesses, bumps to head and fevers can cause Sofia to further regress.
There are only 15 other children in medical literature that share this specific gene mutation.
Since the diagnosis, Sofia’s needs have increased greatly and quickly. She has lost many skills and requires 24/7 care. Along with seizures, her clinical manifestations are: hypotonia, tremors, myoclonus, and silent aspirations. As the Leukodystrophy progresses, it has also affected Sofia’s ability to walk in her walker, talk, and eat. She is now non-verbal, nonambulatory and was given a g-tube in November 2021 that has helped tremendously.
Now, over two years later since Sophia’s first seizure, Stephanie shares, “Looking back, there are things that stood out to me when I saw her starting to have all these clinical manifestations. I spent so much time on the internet trying to make sense of it all. I wish I would have been more present in the moment because it was all wasted time. Hindsight, I guess. I’m grieving the child I lost and continue to lose. But I’m doing better at simplifying my life. I’m trying to be more present. I’ve learned to be more present.”
While navigating Leukodystrophy, time seems to move twice-as-fast. While Sofia has lost many abilities, she can still see, hear, and feel things. She works hard at therapy to keep her muscles loose and strong so she can be comfortable. In speech therapy, Sofia is working with augmented and alternative communication devices. Prior to Sofia’s most recent regression, she was able to point and touch a screen, but now the family is advocating for an eye-gaze communication device for Sofia, although it is very costly. Since Sofia’s condition changes so quickly, getting proper equipment in time is a never-ending battle with insurance companies.
Overall, Sofia is dotingly known as being silly and having a warm and loving presence. She is 6-years-old and lives in New Waterford, Ohio with her family who adores her including her mom, step-dad, Rodney, and spunky little sister, Addi. She loves Disney movies, music, and being outside. She is also known as being quite the social butterfly and adores her classmates at school.
Preparing for Sofia’s future, Stephanie shares, “We know it is pretty clear and based on what has happened so far, that her time here will be limited. It’s so important to me that she experiences as much of life as she can. We want her to feel connected in the community, experience fun things and attend school. We’ve had to take Sofia out of school a couple of times in the past two years due to her seizures and back-to-back hospital stays, but we’re so happy that she could return back in January.”
Time to get loud shouters!
Throughout the month of February we will be shouting loud for Sofia!
So click here to shop now where every purchase in February will be used to help remodel Sofia’s bedroom and bathroom to be adaptable and accessible.
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