The Voice Behind the Smile

Walking into Nationwide Children’s Hospital for the very first time can feel like a blur, especially when you are a first-time mother and father. Brielle was two weeks old and had a blazing fever of 102.5 and a very deep and concerning cough. After being admitted to the infectious disease unit for two days, they couldn’t find anything and we were discharged. At 4 months old, she had ear tubes placed in her ears to help her with her constant double ear infections. And eventually, we found ourselves at the hospital or the pediatrician’s office every week for the next 10 months yet through it all her sweet, caring and patient smile carried us through. We were referred to Dr. Lisa Maria Sarzynski and she teamed up with Dr. Jonathan Grischkan, who diagnosed her with a slight laryngeal cleft, severe acid reflux, pediatric tracheomalacia, and she was aspirating liquids into her lungs. After a laryngeal cleft repair and switching her to thickened liquids, we noticed her development wasn’t where it needed to be and we began physical, occupational and speech therapy. She was also diagnosed with extreme farsightedness. Her smile once again, reassured us we needed to keep searching and then we decided to genetically test her. Through all of these issues, we finally had an answer. Dr. Emily De Los Reyes diagnosed Brielle with GRIN2A, a genetic mutation of the 16th chromosome. She is the 3rd in the world to have this specific amount missing from the 16th chromosome. Abnormal brainwaves through her EEG’s and her speech is greatly affected from GRIN2A, but her God-given smile is her voice to remind us that everything will be okay because of the amazing doctors, nurses, and therapists at Nationwide Children’s Hospital.
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  • Name: Brielle A.Brielle Anderson
  • Condition(s): GRIN2A
  • Age at Treatment: Two Weeks old
  • Age Today: 12/17/20138 Years

Walking into Nationwide Children’s Hospital for the very first time can feel like a blur, especially when you are a first-time mother and father. Brielle was two weeks old and had a blazing fever of 102.5 and a very deep and concerning cough. After being admitted to the infectious disease unit for two days, they couldn’t find anything and we were discharged. At 4 months old, she had ear tubes placed in her ears to help her with her constant double ear infections. And eventually, we found ourselves at the hospital or the pediatrician’s office every week for the next 10 months yet through it all her sweet, caring and patient smile carried us through. We were referred to Dr. Lisa Maria Sarzynski and she teamed up with Dr. Jonathan Grischkan, who diagnosed her with a slight laryngeal cleft, severe acid reflux, pediatric tracheomalacia, and she was aspirating liquids into her lungs. After a laryngeal cleft repair and switching her to thickened liquids, we noticed her development wasn’t where it needed to be and we began physical, occupational and speech therapy. She was also diagnosed with extreme farsightedness. Her smile once again, reassured us we needed to keep searching and then we decided to genetically test her. Through all of these issues, we finally had an answer. Dr. Emily De Los Reyes diagnosed Brielle with GRIN2A, a genetic mutation of the 16th chromosome. She is the 3rd in the world to have this specific amount missing from the 16th chromosome. Abnormal brainwaves through her EEG’s and her speech is greatly affected from GRIN2A, but her God-given smile is her voice to remind us that everything will be okay because of the amazing doctors, nurses, and therapists at Nationwide Children’s Hospital.

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