Johnny
Partial Trisomy 16q+
Our sweet little Johnny will celebrate his 1st birthday (3 days from now) on Jan. 29,1999. We're all looking forward to this big day. It has been a very trying and difficult first year for Johnny and for all of us. We first found out about his chromosome disorder when John was 3 months old. He never opened his eyes very wide and when we took him to see an opthamologist, he suggested at sometime we have his chromosomes tested because John's "optic nerve was gray in color and in very rare cases, this could be due to a chromosome abnormality." So, of course, we wanted to find this out right away. I always had a feeling, (like many parents do) that there was something not right with our little precious angel. He was not breathing on his own at birth and was small (only 5lbs.8oz.). He had difficulty feeding and gaining weight the first few months of life.
To make a long story short, Johnny has had some very traumatic times in his first year of life. He had a severe seizure at 3 1/2 months of age where he stopped breathing, but now takes medication to control them and, thank the Lord, has been seizure-free for eight months! In Oct.'98' Johnny became extremely sick very fast and ended up having a kidney infection that went into his bloodstream and sent his little body into shock. He was on life support for 2 weeks, but again, God answered our many prayers, and Johnny pulled through and was taken off life support successfully! He has hydronephrosis(reflux of his kidneys) and is on antibiotics daily to prevent urinary tract infections. He has had difficulty gaining weight since his hospitalization and may be getting a feeding tube (G-tube) within the next month if he does not start to gain weight.
We never thought our child would have a chromosome abnormality because, like many other parents, all of my prenatal tests came back normal. So, at first it was difficult because the geneticists we saw told us there was no other person in the medical literature with the exact same genetic make-up as John's. And, because of this, they did not know how Johnny would do. But, we quickly learned that our sweet little Johnny would continue to bring us the greatest joy and love anyone could give. He constantly reminds us of how precious life is and how we can't taken anything for granted because life here on earth is so fragile and so short. Our lives have drastically changed and each day is a mystery as to what it might bring, but we've learned to live each day to the fullest and hug and hold our children (Johnny has an 8 yr.old brother Zachary) as often as we can because someday we may not have the chance to do that anymore. Johnny truly is our little angel and we are very excited to learn as much as we can and meet others who have children with chromosome 16 abnormalities so we can do as much as we can to help Johnny be as healthy as he can. We already have met 2 other families that have children with a similar genetic make-up as Johnny's. And would love to get involved in this support group too.