Retrun to 22q Stories

You are here

Our story is like many others. At 20 weeks we were told something on our ultra sound did not look right. We were then advised to see a specialist at UCONN Medical Center. Soon after we had a level two ultra sound done were told our child would probable only have one functioning kidney. As this was our first pregnancy we were devasted but realized many people live with only one kidney. After being four days late and having a normal delivery our “Angel” was born November 30, 2007. 36 hours after she was born her breathing was not right, it was very fast and nurses at Manchester Hospital advised they wanted take her to examine her. If not for them our daughter might not be here today. Soon there after we were told she was being rushed to Connecticut Childrens Medical Center, for a heart related issue. We were stunned, we knew there was a kidney issue but not a heart issue. After a rough transport we then told shortly thereafter by a pediatric cardiologist that our daughter had an interupted aortic arch along with asd and vsd repair that needed to be done, and was going to require open heart surgery as soon as she was well enough. It was this same day that we were also told she may have something called DiGeorge Syndrome. Since this was like a foreign language to my husband and I we quickly learned about 22q and it’s affects. After watching our daughter fight for her life and almost losing her the next day, I was not sure we were going to survive this battle. With great strength from Ava, family, and friend 10 days later she under went the surgery. With a successful surgery, she quickly recovered like they had never seen, it was then we knew we had a fighter on our hands. As everyday passed seeming like an eternity It was Christmas Day in 2007 that we were able to take her home. Christmas was always special to our family but not like it is now. She is a true Christmas miracle. She currently is doing well, she does struggle with speech, with have speech therapy weekly but she is making great strides. She still continue to see, immunology, a urologist, endocrinologist, and her cardiologist yearly, we have good hope that she will not need any further surgery. As we do not know what battle we have a ahead we deal with them daily. My husband and I would not trade her for anything, she is inteligent and smarter than she is credited for. Reading some of the stories had made me realize how largely this condition can affect others. The spectrum for this condition is quiet large. but In the end there is a reason why we have all been blessed with children so unique! My thought’s are with all the families!

Latest News

Upcoming Event

Spread the Word