Tag - 3p deletion syndrome

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Decisions—Growing Pains Update
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Never Say Never—A Story About Very Special Athletes

Decisions—Growing Pains Update

When I wrote about recent Growing Pains with our daughter so many of you jumped in to offer support, compassion and some kick ass advice. We all know it takes a village to raise a child, but it takes that same village to support a family who’s spinning in circles, not knowing what to do. Thank you village. Sincerely. We’ve stopped spinning. For now at least. We met with a wonderful pediatric endocrinologist yesterday at Sick Kids. I can’t say often enough how lucky we are to live just a short drive away from this world class children’s hospital. With the support of a wonderful doctor and her team, we have decided to put off Avery’s impending human growth hormone treatment for at least six months. Pheeeeeee-ew. We learned the injections are nothing to fear. After the learning curve, they will become just another part of our daily routine. I can live with this. It’s the fear of the C word that has temporarily stopped us in our tracks. Avery’s pituitary does not produce enough HGH. The answer to why is hidden somewhere deep within her unique genetic make-up. But also lurking there in the shadows are other unthinkable possibilities.[…]

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Never Say Never—A Story About Very Special Athletes

  We were told that it wasn’t likely our daughter would ever walk on her own without some kind of assistance. Doctors made this assumption based on what is known about her faulty DNA. Considering the significant chunk of genetic material missing from Chromosome 3 (3P Deletion Syndrome), this was a fair assumption. But you know what they say when we assume… “it makes an ASS out of U and ME.” So we try to never assume—and more importantly, to never say never.  This spring Avery attended the 27th annual Special Athletes Track & Field Meet in our school district. There were 280 athletes in attendance, plus teachers, support workers and teary eyed parents. Each athlete was allowed to bring along one ambassador to help them. Avery chose her eleven year old brother. Sebastian wanted to be there, but he was scheduled to represent his school at his own track meet. In the end, and on his own, he decided to accompany his sister. He said he wanted to cheer her on. And boy did he ever. We are so grateful to the mother who started this special event 27 years ago and to all of the volunteers who make[…]

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