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Humanity Unwrapped The past couple of days I have been reflecting after the whirlwind of activities of the holiday season have come and gone.  Another Thanksgiving and Christmas is in the books. I was talking to a good friend of mine and told her as I’ve gotten older it seems that Christmas just comes and goes and this year it felt hard for me to feel that it was any different than another day of the year.  Was it because I am an aging adult? Was it because this was the first Christmas without our beloved father and papa? Was it because our son is nearly a teenager and it gets harder and harder to “surprise” him every year? Was it because I secretly stress every holiday and get together due to the fact Elyce is easily overstimulated and tends to get upset more easily and refuses to eat or drink because of it?   And then I said it. I said it out loud for the very first time.   I told my friend…you know I think it is because we don’t get to...
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Living Life Unbalanced Elyce has a rare genetic condition.  She has 3 chromosomes that are affected:  4, 7 and 18. She has an unbalanced translocation involving chromosomes 4 and 7. This genetic variation is considered de novo (new to Elyce); not inherited from her father or I. 4q35.1-q35.2 (deletion) 7q34-q36.3 (duplication) 18p11.21 (duplication) Chromosomes are essentially the instructions that our body uses in order to develop and grow appropriately.  Genetic variation such as losses (deletions) or gains (duplications) of chromosome material can be normal variants, but also can be pathogenic and impact an individual’s health.   Translocations like hers are rare.  There have been no known reports of individuals with the exact same genetic alteration in the medical literature.  This makes clinical information and correlation very challenging. Thus, it is impossible to know what the future holds for Elyce... so we take ...