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New Jersey, USA
15 years old
September 2, 2020

Melissa

Melissa was born full term and hit all of her baby milestones until 9 months old, then she stagnated. She started walking at 18 months, she was not saying “mama” or “dada”. Her pediatrician insisted that everything was fine, all kids develop differently. At 34 months, our pediatrician was finally concerned and advised that Melissa receive Early Intervention. Besides her delayed speech and her occasional hand tremor, there was no hint that she had any other issues. Melissa was lovable, friendly, would play, follow commands, and make great eye contact. At 3 years old, I noticed her eyes flicker one day getting her out of the car. This was the beginning of the journey of her epilepsy diagnosis. Four different neurologists tried to pinpoint what she had, they could not identify an underlying disorder. At age 11, a neurologist diagnosed Melissa with TCS2. which causes Tuberous Sclerosis. Tuberous Sclerosis is a rare disease associated with epilepsy, development delay, and benign tumors. After several rounds of unnecessary medications that only seemed to be making Melissa worse. Finally in mid July of this year, after another genetic test, a diagnosis of SYNGAP1.

Melissa is strong willed and incredibly strong. Some of Melissa’s quirks and affections have not changed.  Melissa continues to be picky when it comes to food. She will eat the same thing for 6 months and then she changes to something else. She is still fascinated by electronics and enjoys certain TV episodes that she can watch over and over again. When she speaks, she makes strong eye contact and she loves hugs, kisses, and any sort of physical contact from her loved ones. I’ve even seen her blow kisses to boys.

Melissa is my world and I hope that her medical team and I can help her through this difficult time in her life. She has endured so much in her 15 years of life thus far.

For more detail on Melissa's incredible journey, read this remarkable account by her mother.


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