I've shared a lot of details about Ellie's life here on this blog, but there is one part of her story I have kept to myself. The part of her story that hurts so bad I don't want to talk about it. You may recall my very first post of Ellie's Story when I mentioned the concern about possible genetic abnormalities. Well, I may have downplayed that a bit. Ever since Ellie was born there have been a lot of little things about her that don't quite add up. When the pediatrician was assessing her after she was born he asked us if she looked like our other kids, not because he was curious whose features she had, but because he felt she didn't look quite right. Some of the things that were concerning were her thick and flat upper lip, low set ears, high arched palate, short and thick neck, abnormal creases on hands, underdeveloped pinkies that stop at the second knuckle one with a partial nail and the other with no nail, low birth weight and difficulty gaining weight, along with all of the eating and breathing problems that have been persistent throughout her life. Yesterday we met with the geneticist to follow up on some genetic testing that was done during her last admission. The tests showed she has a rare chromosomal disorder called Trisomy 4p. Basically she has a complete extra "short arm" of her 4th chromosome that is attached to one of her 15th chromosomes. There are only about 100 documented cases in medical literature, so rare is an understatement. Because it is so rare and every case is so individual, we don't know exactly what Ellie's development will be like, but we do know that she will have severe delays in her motor and cognitive development. We just hope to provide her with every opportunity we can to reach her full potential, whatever that may be.
If you would like to know more about Trisomy 4p you can check out this or this article. That is pretty much all we know, so once you have read those you know as much as we do!
