SOPHIARetrun to 22q Stories
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Sophia was born full term and the only complications was polyhydramnios during pregnancy (too much amniotic fluid). Soon after birth she was diagnosed with failure to thrive because of her difficulty eating. By 3 months there was concern about her low muscle tone. We started physical therapy two times a week at 3 months of age. By 9 months of age there was no vocalization at all. We added speech therapy two times a week. When she was one year old we had an normal MRI and insurance would not pay for genetic testing (although the neurologist believed the issue would be gentetic in nature) . Her diagnosis until just this last June was hypototonia and Velopharyngeal dysfunction (VPI) we thought because of the low muscle tone. Finally around her 2nd birthday we had another “normal” MRI and did procede with Genetic testing. It was discovered that she has a 22q deletion. She does not have the cardiac issues but does have the low muscle tone -physical and speech delays with significant VPI issues. We still attend Physical therapy 1x weekly, Speech Therapy 2x weekly, and Occupational therapy 1x weekly. She is a very laid back little girl with a great sense of humor. She is thriving with the love and support of our family and intensive therapy.