Super Jhorie!

Super Jhorie’s story of happiness, heart, and heroism, as told by her Super Mom:

“We started noticing regression in Super Jhorie’s speech when she was two years old, along with some missed milestones. Neurologists did EEG testing to confirm that sadly our sweet girl was suffering from focal seizures and seizures during sleep (ESES). We were also able to get genetic testing, which told us she had a very rare form of genetic epilepsy called STXBP1. There are only 400 diagnosed cases of STXBP1 worldwide. Because Super Jhorie’s disorder is so rare, doctors don’t have a lot of information. The scariest thing is the unknown. Her seizures have taken her words, her ability to communicate and learn some things, her memory, her fine motor skills, etc. The thought of her seizures possibly worsening at some point in her life is a hard thing to come to terms with, but a reality that we could face. 

Yet every day, people notice how extraordinary Super Jhorie is. She is always smiling and happy. She likes to make others happy too. She is the absolute most joyous little human. Although she wouldn’t be able to tell someone, I think she would say she would like to be treated like everyone else.. not as if she is disabled in any way. She just wants to fit in and for others to want to get to know her. She might be different, but she is a loving, kind, compassionate, and fun-hearted kid. Her favorite foods are mac and cheese, fruits, veggies, chocolate, and ice cream. She loves to be outside jumping on her trampoline or playing in her clubhouse. The park is also one of her most favorite places. She enjoys water and loves the beach. She enjoys car rides especially when the window is down and her hair is blowing in the wind!

I have seen my superhero overcome many challenges in her life so far. She cannot speak but a couple words, but she is learning sign language, and she is using a speech device to communicate also. Even if she can’t talk, she figures out how to get her point across! She has so far successfully controlled her seizures with medication and has had improvements in her memory and learning abilities. She never gives up! She loves learning, and she wants to know everything about the world. She has come very far, and she continues to prove she won’t give up anytime soon.

Super Jhorie is most amazing to me because of this. Against all odds, she never gives up. Life can be challenging for her at times, but she never lets it get the best of her. She puts in her best effort and starts everyday with a smile. Her happiness is so contagious. She is brilliant and intelligent and she knows all her colors, shapes, letters, and numbers one through five. Although she is only five years old, she is so kind and caring and will share anything she has with anyone near her. She has the biggest heart. She makes me proud every single day. A lot may be unknown for now, but what is for sure is that in Super Jhorie’s journey, every day will be a fun day, full of laughs and memories made with her family who loves her so very much. We will take every day as it comes and be grateful for them all.”

Thank you to Super Jhorie and Super Mom Destani for sharing their story with us!

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