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Collins is our 6 years old daughter. Our journey started when our daughter was in utero. I was tested for everything while pregnant, and had an emergency amniocentesis while pregnant since the Maternal Fetal Specialist doctors could not figure out why she was not growing. I had a high risk OB and saw the Maternal Fetal Specialist every 2 weeks for ultrasounds and then weekly at 7 months, but no diagnosis. Our daughter was induced at 39 weeks and was born weighing 5 pounds and 5 ounces, and she scored perfect on her newborn screening test. We encountered feeding difficulties and she was placed on basically an add weight program. At 6 months she started having ear infections which did not stop. She received PE Tubes in both ears at 14 months and 2.2 years old, but the chronic ear infections were still ongoing. We started her in private speech therapy at 18 months old, and had her tested and were told she did not need therapy through the county since her receptive language was high. We continuously were at the Pediatrician or ENT. We decided to seek more opinions and went to another ENT, who performed a nasal scope and diagnosed our daughter with a Submucosal Cleft Palate, VPI, and Bifid uvula at 2.3 years old. From there we contacted a Cleft and Craniofacial Team in Northern VA who performed her cleft repair surgery at 2.5 years old. We moved when our daughter was 3 to Ohio. We went with our gut instinct that something was still wrong since her since Speech was still not developing. She saw a Hematologist for Iron deficiency anemia. We decided to meet with another Cleft and Craniofacial Team and they informed us to get genetic testing.
At 4.6 years old our daughter received the genetic testing. At 4.8 years old we received the diagnosis she has 22q11.2 Deletion Syndrome on January 26, 2017; the same day my mother passed away. My world was turned upside down and not having my mom by my side to help me understand what 22q was and to reassure me Collins was going to be fine was very difficult. Currently, we see 3 medical teams at 3 different hospitals. Nationwide Children’s Hospital is our primary now since they have a 22q team. She has speech therapy 4x’s a week since Speech is her greatest challenge. She is closely monitored for hearing since she has perforation in both ears. She is small in statute and on Pediasure 1.5, and she wears glasses. She has had 5 surgeries.
Later I requested all my medical documents, and I learned no testing for MicroDeletion was performed in utero and no other testing during new born screening to diagnosis the submucosal cleft palate or 22q was conducted.
We are so grateful for the 22q community where we learned about Donna Cutler-Landsman who advocated at our daughter’s IEP meeting. Our daughter is doing great in 1st grade, and she is receiving educational services that Donna Cutler-Landsman implemented. Donna Cutler-Landsman’s book is our dictionary! We are always researching 22q, and we are appreciative of the 22q community to help educate us and learn more about 22q. We want, like every parent, to give our daughter the best medical and education for her to thrive. Our daughter is a tough and strong girl who keeps amazing us! Collins is a sweet, funny girl who loves her dog, momma and dadda,TMNT, Paw Patrol, PJ Mask, and Power Rangers. We are stronger parents since the diagnosis and cherish every day as a family. We will always be advocating for our daughter.
I want to advocate for microdeletion screening....and informing the public about 22q!