22q11.2 Deletion Syndrome Patients :: Nationwide Children's Hospital

Meet Our Patients

Meet Tabitha

Tabitha MoranTabitha first came to our 22q Center at Nationwide Children’s Hospital in October of 2010.  She presented with significant speech challenges, including a severe articulation disorder, hypernasal speech and other symptoms of velopharyngeal dysfunction (VPD) associated with her diagnosis of 22q11.2 deletion syndrome.  She had previously undergone repair of a submucosal cleft palate. As part of her clinic visit, she underwent a surgical consultation, speech evaluation, acoustic testing of her nasality, as well as nasopharyngoscopy imaging of her palate function during speech. Together, these assessments provided the necessary information for Dr. Kirschner and Dr. Baylis to formulate a comprehensive and individualized treatment plan for Tabitha. Our recommendations included a combination of surgical intervention to improve her velopharyngeal closure for speech, as well intensive speech therapy to target her articulation skills.

In January of 2011, Tabitha underwent posterior pharyngeal flap surgery with Dr. Kirschner, Tabitha Moranwhich is the most common surgical treatment for velopharyngeal dysfunction in children with 22q11.2 deletion syndrome. The goal of that surgery is to connect the soft palate and the back wall of the upper throat (the posterior pharyngeal wall) with a flap of tissue, to partially block off the central opening where air and sound were leaking out of Tabitha’s nose when she was speaking. 

Since Tabitha’s surgery and through the efforts of ongoing speech therapy, her family reports that her speech has significantly improved—her hypernasality is much improved and she is easier to understand.

22q Patient Singing Before Surgery to Improve Speech

22q Patient Sings After Surgery to Improve Speech

Meet Kirsten

Kristen, 22q PatientKirsten Hercules came to Nationwide Children's upon her diagnoses for 22q deletion syndrome. Growing up, Kirsten was treated for several conditions including heart disease, speech difficulties, scoliosis and asthma. Through it all, Amy, Kirsten’s mom, knew that somehow all these conditions were related. Once Kirsten was diagnosed with 22q deletion syndrome, Kirsten came to Nationwide Children’s because of the comprehensive coordinated care that our 22q Center provides.

 

 

 

22q Deletion Syndrome: Kirsten's Story

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