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Local family recognizes Kabuki Syndrome awareness month

Cullman Times - 10/31/2023

Oct. 31—One Cullman family has broken away from the expected seasonal palette of black and orange and have instead highlighted green throughout the month of October to recognize Kabuki Syndrome Awareness month.

Shea and Garrett Powell were already seasoned parents to three daughters by the time they began expecting a fourth in 2021. Despite a routine pregnancy, Shea said she could tell something would be different about her youngest Evie. Shea's suspicions were confirmed on July 5, 2021, when Evie was born with fluctuating glucose levels and a high arch palette and again during her two-week follow up when her pediatrician noticed a second abnormality on one her ears. After being sent for genetic testing the Powell's were able to confirm Evie had been born with the rare genetic disorder, Kabuki syndrome.

Affecting roughly one in every 32,000 individuals, KS is currently known to be caused by variations in either the KMT2D or MDM6A genes — Evie's condition is associated with the more rare MDM6A gene — but researchers suspect a longer list of specific genes will be determined through more extensive research. KS is most often characterized by its associated facial features such as arched or broad eyebrows, depressed nasal tip and prominent or cupped ears, but can also result in more serious health risks such as congenital heart defects, seizures or gastrointestinal anomalies.

At only two-years-old, however, the complexities of Evie's condition are dwarfed by a personality much larger than her stature might suggest. The infectious smile and charm of the energetic toddler makes it difficult to dwell on anything as mundane as genetics or hospitals as she bounces around her living room dancing along to her favorite YouTube channel, Ms. Rachel's Songs for Littles.

While Shea might be admittedly biased towards her daughter, she said many of these characteristics are shared by others in the KS community.

"Individuals with Kabuki Syndrome have many charming traits including musical inclinations, and an adorable 'scrunchy nose' smile and just the happiest demeanor. Our daughter brings so much joy to us [her parents], her sisters and to everyone she meets," Shea said.

Despite Evie being on the more fortunate end of the spectrum for those living with KS, the Powell's have still had their fair share of challenges to overcome. Just over a month after Evie was born, it was discovered that she was suffering from an underdeveloped airway causing her to silently aspirate while eating, which resulted in the placement of an NG feeding tube.

KS is often associated with cognitive and developmental delays which the Powell's have been proactive in combatting through local intervention therapies.

Today though, Shea said Evie is "thriving." She has been excelling in her therapy sessions and with the exception of days when she is particularly congested, Evie is able to enjoy liquid and pureed foods throughout the day, only requiring supplemental G-tube feeding while asleep.

Shea said she has also found a healthy network of support through the online All Things Kabuki group. She does worry about the day when Evie will begin to notice that she is different from her sisters and the other children she interacts with. However, when that day comes, she is confident Evie's charm and perseverance will outweigh any thoughts or feelings of insecurity.

"I just want her to know that she may be different, but we are all different from each other in some way. That's what makes us special," Shea said. "As her mom I just want to say Evie has been such a blessing and inspires me daily. She has taught me that life can be hard but we are capable of so much."

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