Our Rare Cutie

By Sarah Roy, 1q21.1 microdeletion syndrome, United States, October 1, 2018

Beautiful girl

Cecilia was born with a multitude of health issues including hypotonia, suck/swallow issues, severe reflux and other complicated GI issues. She had seizures like episodes and spent all day arching in severe pain when she was awake. Finally, at almost 7 months she had a nissen fundoplication and gtube placed, but the results left us hospitalized for almost a month with frequent readmissions. Finally they placed an NJ tube and it was the first time she was ever happy. She finally started developing motor skills and despite her hypotonia and hyperflexibility she began sitting, then crawling, and now pulling up at almost 14 months. Once she was switched to a GJ tube she was even happier to have the tubes off her face! She does have pericardial effusion, and still shows reflux on endoscopy as well as inflammation of the small intestine currently despite elemental diet for months. She’s our little rockstar and though life is often tough for her she absolutely enjoys being with her sister, brother, Mommy, Daddy and dog, Cookie. Every day she inspires us, we fight for her, and we cover her in kisses and hugs! 

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