Our move to Austin and some more test results.

We finally got moved to Austin about a week ago and are loving it here. The change in scenery is awesome. I had forgotten what it's like to live with rain, humidity, grass and trees. On the drive down here one night there was a thunderstorm with lightning. Kekoa asked me what all those flashing lights were. He didn't know what lightning was. He's also asked me why there were so many trees in one area. It was a forest. Why the clouds kept covering up the sun all day, and why does it rain so much. He has said on numerous occasions how much he loves it here and doesn't want to go back to Las Vegas. He really likes our house because it has two flights of stairs. He's the only one who likes that part. It's really nice because we can walk to the park, the grocery store, and the movie store. We did drive by the blind school too and were impressed. They're remodeling it right now, but it looks huge. We're still waiting for the early intervention program to evaluate Oliana. The lady that does the referrals was out of town last week, but is suppose to call me this week.
I did get the results back from Oli's MRI, endocrine lab work, and her pelvic ultrasound. The MRI showed that her optic nerves are no longer visible and she is completely missing her optic chiasm. This means that she will never have any light perception and is completely 100% blind. Her pituitary gland looked normal. They thought it looked small before. The radiologist said that he thought it looked good and only the bright spot of the pituitary looked a little small, but if it functioned normally it was probably normal. Not every one's looks the same. Her endocrine labs were all normal, so still no problems there. Yay!! The most shocking result was her pelvic ultrasound. When she was born they did one and told us that she had two uterus's. Guess what?? SHE DOESN'T. SHE ONLY HAS ONE!!! I don't know why they thought she had two. Maybe because she was so small it was very difficult to see. She has one uterus and two ovaries. The result was a completely normal pelvic ultrasound for her age! That was great news. So really, the only thing abnormal is her eyes and her kidneys. The geneticist said that she thought that the kidney reflux and hydronephrosis were probably unrelated since many kids are diagnosed with this and just outgrow it. We are just so excited that she is only blind. So all in all, very good news!!
One other test we got back was Seth and I's genetic results. They tested us for the same gene deletion as Oliana because I guess you can have the deletion without being affected. Our results were both negative. Neither one of us has this deletion and our chromosomes are normal. This makes it even more unlikely that we would have another child with OTX2. Another great piece of news!!

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!!!

Summer Days

So it's finally it triple digits here in the desert. Which means it's pool day everyday here in the Gardner household. As I've said before Oliana LOVES the water. She gets so much information with every movement in the water. She loves for me to throw her up in the air, dunk her under the water and wiggle, wiggle, wiggle, which is what Oli does best. Kekoa is a little more hesitant about the whole thing. He'll get on the steps but, that's as far as he goes. I'm hoping to do swim lessons with him to make him more comfortable. Koa has always been a little fearful of things.
I continue to be amazed at the response people have to Oli. I know she's memorable because she's blind but, I honestly think there's more to it than that. I think she would be special even without the blindness. There's just something about her that draws people to her. Just the other day we were leaving the pool and this father and his 3 kids came up to me and said, "Is that Oli?" I had never met this person and was thinking, "How in the heck does this guy know my daughter's name?" He came right up to her and said "Hi Oli, how are you?" Then he tells me that he met her last weekend at the pool. I said, "With Grandma and her cousins?" Seth and I had been out of town at the ICAN (international children's anopthalmia network) conference. The man couldn't remember who she had been with but, he sure remembered her. He just wanted to come and say hi to her. Things like that happen a lot with Oli. I guess it's teaching me to be more friendly around strangers, especially with her. I'm kind of protective of her, fearful that someone will make a dumb remark. That really doesn't happen so much anymore. Again, at the pool, there were some little girls asking questions about her. How old is she, what is her name, why does she keep splashing them? I told them that she was blind and couldn't see them but, could hear them. They looked at her and I thought, oh no, here it comes. The funny thing is, they didn't say anything about her eyes. They asked me why she had such a funny name! Kids will surprise you! They did ask me why she kept shaking her head. This is still an ongoing battle with Oli. Now when we tell her to stop shaking her head she gets so mad. She gets mad whenever I tell her no. Typical. (Kekoa right now is telling Oli to stop shaking her head. "Oli, no shaking your head!" "Mommy, Oli is shaking her head again" HA HA HA!!!)
So we went to the ICAN conference last weekend and learned so much. We learned more about the gene mutation SOX2. We think this is what Oliana has but we won't know for sure for a few more months. Basically it's characteristics include very delayed motor and speech development, pituitary and sex organ anomalies, and possibly (but not always) some form of mental retardation. Oliana is not walking by herself yet. She'll walk holding on to us but, is still very unsteady. She has delayed speech. 2 year olds usually have about 50 words and can form 2-3 word sentences. She's not there yet. She has about 10 words and has spoken a 2 word sentence one time that I can remember. She'll get there eventually it will just take her longer than others. That's why we have her in therapy and work with her at home so much. Her pituitary gland looks abnormal but, functions normally. She has 2 separate uterus's but, we are unsure about the rest of her female organs. Some girls with SOX2 are missing their ovaries. Sometimes the girls have very delayed or no periods because they don't produce enough estrogen. We're not sure yet about all that because she's to young. If the test comes back positive we'll have her followed by an endocrinologist when she gets older. As for the mental delays, we don't know yet. She's delayed in her speech so its hard to guess. She understands almost everything and follows directions. Our vision teacher thinks she's brilliant and that a lot of the weird stuff she does, she does because she's blind. When we talked to other parents and watched other blind children at the conference some kids do what she does and others didn't. Of course some of them were older and had learned proper social behavior. Shaking her head is the most noticeable. A lot of the kids did that. Oliana has her moments when she doesn't do it at all and other times, when it's loud, she does it continuously.
She's learning to go pee on her little potty so I guess that says something. I'll ask her if she has to go potty and sometimes she says yes. Other times she doesn't say anything. I go and sit her on the potty throughout the day and she usually will go. It's funny because right before she pees, she'll start clapping. When the clapping starts I know she's going to go. It's not as hard as I thought it would be, seeing that she can't walk or talk. I'm not sure how long it will be until she can wear underwear but, we're getting started.
So all in all, things are going okay. I was pretty upset to learn about the SOX2 stuff, but just like everything else we'll get through it. I've been reading a book by Patrick Henry Hughes and his father. It's called "I am potential". It's quite an amazing book. Patrick Henry was born with the same eye condition as Oli and is completely blind. He also has other physical limitations and is in a wheel chair. He is an a exceptional human being and reading his book has been quite an eye opening experience. I don't know him personally and have never met him but, I would encourage anyone reading this site to check out his book. I think I cried through most of it. It's a very touching, honest story about what it's like to be blind and in a wheel chair. Patrick Henry is a very talented young man who plays the piano and trumpet. I've had the privilege of hearing him play and sing on a couple of TV shows. His family has a great attitude and outlook on life and don't look at their situation the way most people would. He calls his blindness not a disability but, an ability. I prefer to think of Oliana in the same way. I hope to give her the confidence and independence that Patrick Henry's family has given to him. You never know, maybe some day Oliana will be out there giving performances and speeches about being a blind adult. Wouldn't that be something!!

Oliana turns 2

Oliana turned 2 on May 10th. I look back sometimes and can't remember how we even got here!! It seems like we've had her forever, but on the other hand it's gone by so fast. She had a great birthday. We just had a little party at home with friends and family. She was so excited to have so many visitors and kids. She loved the cake, of course, and the presents. Tissue paper is the best!!! We made sure this year not to wrap the toys in the boxes, but take them out of their boxes and just wrap the toys. She enjoyed opening them this year. Last year she was so frustrated by the boxes. I'm sure she didn't understand why she just kept getting boxes as presents. We're learning.
She's doing really well. She's walking with her walker and sometimes without it. She has to hang on to our pant legs to walk, but she's not scared anymore to do that. A step in the right direction. She can even stand for a few seconds by herself. She's not so scared to do that anymore either. She's talking up a storm. She repeats alot of words and says quite a few words on her own. Most of the time she'll say the first or the last part of the word. Like for "milk" she says "ka". For "drink" she says "dri". We're getting used to her language and it makes life so much easier for her to be able to communicate.
She is definitely a two year old. She wants what she wants when she wants it and if she doesn't get it, watch out!!! I'm talking about a throwing herself down, banging her hands on the floor, crying tantrum!! She's such a drama queen. When she's not happy or doesn't want to do something she sobs like it's killing her. Lets just say therapy visits are not so much fun. Mostly it's the physical therapy that she hates. She always has and probably always will. It's hard for her so she doesn't like it. I understand and feel bad for her, but we have to make her do it. If we gave into her every time she cried we'd never get anything accomplished.
Disciplining Oli is more difficult than it was and is for Kekoa. I know I don't want to baby her, but she just seems so much younger than Kekoa did at 2. We are starting to have to discipline though. She has started throwing her cup and her food when she's done. She understands "no", but ignores it most of the time. Typical for her age. She started saying no. I think that's her favorite word to repeat during therapy. She says "na,na,na,na,na" pretty much the whole time.
So we continue on with the challenges of raising two young children. Oliana has definitely become more challenging the older she gets. She gets very bored very quickly. Finding new activities and toys has become alot more work. She doesn't like to play by herself for very long. I think most of that has to do with the fact that she doesn't really know how to play. Most kids play by imitating what they see. Obviously in Oli's case she can't do this, so teaching her how to play is an ongoing challenge. She'll get it eventually. We might be insane by the time she does, but hey, as long as she gets it!! Even though she has become alot more work, she's still a wonderful little girl. She has such a great sense of humor and the best little laugh!! I continue to feel blessed every day to have such a wonderful family.

Walkie-Talkie Oli

We got a new posture control walker from Oli's physical therapist, Grace. She's doing really well with it and can now actually walk a few feet by herself using it! We're really excited! She's also getting more therapy too. She goes once a week to the hospital I work at and receives physical therapy, occupational therapy and speech therapy.

She's really trying hard to talk now. It's so cute because I'll sound out the word for her and put her hand on my mouth so she knows how to move her mouth, tongue and lips to form the word. She concentrates so hard and then tries to imitate the word. You can just see the wheels turning in her head. She furrows her brow, cocks her head and moves her mouth. I just love it!! She is doing more sign language too! It's getting a lot easier because she's able to communicate more of her needs. She signs eat, sleep, more, all done.... And she says, yes, up, mama, baby, bye bye...and a few more words that I'm not thinking of right now.

So we continue to move forward. It's soooo much easier now than when she was little. Not only because she's older but, because Seth and I have learned to just relax and enjoy having two beautiful, smart, happy children. At the end of the day, what more can you ask for?