OLIANA'S DIAGNOSIS

So, after two years we finally have a diagnosis and explanation for Oliana's condition. She has a very rare gene deletion off her 14th chromosome. It's called OTX2. Only 15 kids in the world have been diagnosed so far with this gene abnormality. In some kids the gene is mutated, meaning that some of the letters are rearranged and some, like in Oli's case, are completely missing. She was diagnosed by Tanya at the Albert Einstein Medical Center in Pennsylvania. She has been absolutely wonderful and if I hadn't gotten in contact with her we would still not know what is going on with Oli. She also has a wonderful way of explaining the deletion.
Everyone who has normal chromosomes has 26. Oliana has 26. Lets think of a library. This library has 26 book shelves labeled 1-26. With Oliana, bookshelf number 14 is there and has all its shelves in proper order. But, when you look closely and shelf number 22 and 23 she is missing a couple of the books off those particular shelves. Lets say every book shelf has 10 books. On shelf number 22-23 she only has 7 or 8 books. OTX2 being the main book missing. In some kids these books are just rearranged. Like book 7 being where book 14 should be and so forth.
We did find out that it is a possibility that Seth or I carry this mutation but are unaffected. We are being tested and should find out in a couple of weeks. If we are not carriers then is it very unlikely that we would pass this on to another child. If we are carriers, then it would be a pretty good possibility. Everything that Oliana has that is different about her is explained by the OTX2 deletion. The only thing that she has that they didn't know could go along with it is her 2 uterus's. Tanya is in the process of contacting the parents of those other kids to make sure they get pelvic ultrasounds. All of the kids have pituitary abnormalities. Oliana's is small but, still functions normally. We went back to the endocrinologist and he had her labs redrawn. He suspects everything will come back normal because she's not having any symptoms. She's growing very well and is in the 90th percentile for her age. Her reproductive hormones may be abnormal which won't really affect her until she hits puberty but she'll be followed very closely. Thankfully we are already aware of this! She's also going to have a follow up pelvic ultrasound to try and identify her ovaries. The endocrinologist said that sometimes these can be abnormal and have a high likelihood of becoming cancerous so they have to be removed. She also has to have a follow up MRI just to recheck her pituitary gland. I am most interested in seeing if she is truly missing her optic chiasm. If she is missing it then there really is no chance that she has any light perception at all. The last MRI said that she was missing it.
We did take out her left prosthetic eye and left it out for a few days to see if she responded to any light. She did not. I don't think she probably sees anything.
Seth, myself, my mom and the two kids are moving to Austin, TX on October 1st!!! We're so excited. The vision services are 100 times better there and she can go to the Texas School for the Blind! It's going to be so great for her. Seth is transfering with Office Max and we rented an apartment in Round Rock. Only 3 more weeks in Las Vegas. Hopefully she'll get everything she needs and deserves in Texas.
So that's what's new. I post a new update when we move. Wish us luck!!!