Retrun to 22q Stories

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Our personal story began a little over a year ago when I had an ultrasound at 12 weeks for our 4th pregnancy. I have never been more petrified than the moment the tech left to grab a doctor. She was cold, concise and got right to the heart of the matter. She very abruptly stated that the fetus has an elevated nueco translucency which most likely idicates a severe chromosomal issue such as downs syndrom or trisomes 13 or 18. We can continue testing such as an amnio at 16 weeks or in my professional opinion you could terminate this pregnancy now, before you have an attachment. Needless to say there were a lot of tears, long conversations and even longer nights. We decided to have the amnio done and since I have a cousin with Digeorge had the addition testing obtained for the 22nc chromosome. For the next 8 weeks we’d recieve call after call, it’s not this, just calling to inform you that this test came back normal, then one afternoon I recieved a call that changed everything. “We don’t know how to inform you of this but your child carries a duplication of his 22nd chromosome” The first thing I said was”you said his?” lol Then about a million other questions started and all with the same answer, “we don’t know” How can doctors not have answers??? So we saw a genetic specialist who told us the same thing, rare, no real answers, good luck…” So I started looking things up and contacted via email one of the doctors at the Children’s Hospital of Philadelphia. They scheduled a fetal apt for us and amazed me at how detailed their information was. They checked his heart, lungs, pallette, thymus, everything and determined that “just in case” I should deliver there. They also decided to test my husband and I to find the “carrier” which turned out to be my husband and since we only have 1 other child together (I have 2 from a previous marrieage) we subsequently had our other son tested an he also has the dup. I am happy to report that on December 19, 2011 I delivered our son Jonathan Donald at the Children’s Hospital of Philadlephia. Since that day my life has become a whirl wind of doctors apts, hospitalizations, specialists, and medical journals… Both boys are affected (in completely different ways) and because of this our schedules are booked almost every day of every week. It is not always easy and can at times be very disheartening but I wouldn’t trade my boys for anything in the world. I love them and if this is what their lives always is it’s worth it. The hardest part is that because of all the appointments and therapys I am unable to work and help with the additional financial burdens amd strains these medical issues add to our family of 6. I need to find a way to fundraise not only for my sons but also for one day their children or for families like ours whose burdens are heavier. No parent should have to feel like they have to choose between their childs doctors apts and paying the electric bill. For us there is no easy answer but I know it doesn’t always have to be this way. I’d like to start a non-profit foundation for 22q duplication. I feel it’s important to not only help with the financial burden but to also raise awareness about this rare medical condition and to let people know that our kids are amazing, loving, wonderful little love bugs, who inspite of their medical issues can and will succeed.

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