The Prevett Family
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Lexi was immediately admitted to the NICU at Memorial Health in Savannah, GA after she was born due to her weight. It was there they noticed her oxygen levels were low, in the 80s, and put her on continuous oxygen. She had a couple of other minor issues that resolved. It was a waiting game for her oxygen levels to improve and for her to gain enough weight to be discharged. After 3 weeks and no improvement with her oxygen, they decided to send us home.
While at home, we had to increase her oxygen flow to get her to an acceptable range. She became sick with a cold, developed pneumonia and had to be hospitalized two separate times. They did imaging and could see her lungs were abnormal, with cloudy areas mostly associated with lung disease. They also did the standard genetic testing with results coming back normal. The pulmonologist in Savannah referred us to Cincinnati Children's Hospital to see if they could give us a diagnosis.
We are from Kentucky and thought it would be the perfect time to move back home for more support. We love the care we have received at Cincinnati. As soon as we moved back, Lexi continued to improve, so much so that she came off oxygen completely at one year old. Dr. Towe, our pulmonologist at Cincinnati, concluded that because she was improving we would leave it undiagnosed. Even though Lexi's oxygen levels were normal, she still struggled with gross motor and fine motor skills. We assumed that was due to being on oxygen for an extended period of time, but our physical therapist suggested we see a neurologist because she was not improving at a normal rate. The neurologist found abnormalities in Lexi's brain. The results of the microarray ordered came back with 22q deletion, also known as DiGeorge syndrome. It was a initial shock to realize that she has had this syndrome all along and that she wasn't just born with a lung disease like we thought. We had never heard of 22q before her diagnosis. We actually got our initial information from the 22q Family Foundation website, which was suggested to us by our geneticist. The FAQ page has been a great resource for us to send to our families and friends as a quick guide to learning all about 22Q.
Each milestone that she masters is a celebration for us. When she first rolled over, sat up by herself, crawled, walked, ran and now jumping. Even though she does it on her own time frame, it makes it that much more special to know just how hard she worked at accomplishing each goal. Our dreams for Lexi have not changed since receiving her diagnosis. We pray she has a fulfilling, joyful life, full of love, support and that she accomplishes everything she wants to. Lexi doesn't like pools or water outside of the bathtub. With regard to her 22Q, she tires easily from walking and isn't as stable as most her age. She has yet to sleep through the night. But Lexi has a great personality and loves to be around people and make them laugh. She loves to color and eat doughnuts!
This community has been so supportive and informative for us as we begin our 22Q journey. It has been so helpful and comforting to hear of other people's stories and to know that even though we haven't met in person, there are families that understand us and all the emotions and experiences associated with 22Q. We are so thankful and blessed that we received a diagnosis early, so that we can learn all we can from this wonderful community and get Lexi the proper interventions and help she needs.