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?

Blind swimmer!!

Most of you know Seth and I were both swimmers in high school and college. This is a really great and inspirational story I was so excited to read!! Seth and I have talked about Oliana swimming, but we weren't sure how she would do it, the flip turns, diving, ect... This just proves that she really can do it!! This young man has basically the same condition Oli has. I just love reading about blind kids doing "normal" (hate that word too) sports that other kids enjoy. Oli loves the water and can already blow bubbles and put her face in and hold her breath. Too long sometimes, I have to pull her head up! This story is inspirational for me especially because he talks about how he has to push himself and doesn't let his blindness keep him from exploring the world. He doesn't use it as an excuse to feel sorry for himself. I find it particularly interesting that he went to a blind school first and then public school. He said that helped pull him out of his comfort zone. This is what we hope for Oli. We want her to go to a blind school first and then integrate to public school so she is not only around blind peers. She learns as much from sighted people as they learn from her. Hope you all find this as inspirational and as exciting as I do.!!!


Here is a great news story from Chester, Pennsylvania about a high school senior named Matt Wallace, who has bilateral anophthalmia.

http://www.delcotimes.com/articles/2009/02/11/news/doc4992db780983f279507622.txt

Bonner senior is a vision of inspiration
Wednesday, February 11, 2009 10:28 AM EST
By JOHN LOHN jlohn@...
CHESTER — With each stroke, the cheers grew louder and the applause inside the Widener University Natatorium became more sustained. It’s a familiar scene for Matt Wallace, a Monsignor Bonner senior. During Friars meets, he’s everyone’s favorite swimmer.Wallace isn’t a record-setter. His path from wall to wall isn’t always straight, crooked swimming a normal occurrence for the 17-year-old. In last week’s meet against La Salle, Wallace finished well behind the competition. Really, who cares?Of the thousands of scholastic athletes in Delaware County, Wallace might be the most inspirational. Born without eyes, a condition known as bilateral anophthalmia, Wallace swims in the dark. He can’t see his competition. He must be notified when to turn. Sometimes, he gets out of the water with skinned and cut hands, the result of unforgiving collisions with the lane lines.Guess what? He’s having a blast. Swimming has been Wallace’s motivational tool and a foundation for his shift from an insular environment to the real world.“Before I got to Bonner, I was in a cocoon,” he said. “I didn’t really have a concept of the real world and that’s what I’ve been shown.”It’s 40 minutes before Bonner faces La Salle in a home meet at Widener. The Friars are completing their warmup and Wallace is moving through his set in Lane 1. Nothing seems unusual. He has a good-looking stroke, better than a number of his teammates. It’s smooth, not choppy. But as Wallace approaches the wall, preparing to turn, he stands out.Nathan Stuhltrager, the 9-year-old son of coach Stephen Stuhltrager, stands at the end of Wallace’s lane, holding a five-foot long piece of PVC pipe. The end is covered in foam, and it’s this part that taps Wallace on the head or shoulder, indicating it’s time to turn. Upon contact, Wallace starts to somersault, pushes off the wall and begins his next 25-yard journey. The younger Stuhltrager, holding the creation of assistant coach Mike McDevitt, heads to the other end of the pool, ready to perform his duty a second time.For the Bonner swim team, it’s just another day.In his 13th year coaching Bonner, Stephen Stuhltrager wasn’t sure what to expect the first time Wallace wandered onto the deck. He didn’t know how he could tend to a team with 30 members, including a blind freshman. Three years later, nothing surprises him. Most important, he loves the message that Wallace sends by simply completing a race.“As a coach, my first thought was making sure we would have a safe environment,” Stuhltrager said. “A half-hour into the first practice, he was all over the lane and there was mass chaos. We had to make sure he had room, so we dedicated a lane to Matt. It’s really worked out great. The kids love him and I’ve never heard him complain about anything. He’s improved so much from his freshman year, but more than that, he’s a real inspiration.”Competing for the Overbrook School for the Blind as an eighth-grader, Wallace arrived at Bonner confident in his ability to immediately contribute. He quickly learned that Catholic League swimming and the practice demands were incomparable to what he knew at Overbrook. Still, he forged ahead and scored for the Friars in a meet earlier this season against Archbishop Carroll.While completing flip turns was a victory as a freshman, Wallace has started to dive on his starts this year. Previously, he would hop in the water before a race and simply push off the wall at the sound of the start. If he has one regret, it’s his decision to skip his junior season.“When I first jumped in the water for Bonner, I was cocky,” said Wallace, whose condition develops in the first month of pregnancy and affects about one in 100,000 babies. “At Overbrook, I was one of the better swimmers and I thought it would be the same here. Halfway through the first practice, I was hurting so bad. I called coach and told him I didn’t think it was going to work out. He convinced me not to bail out.“This has been a great experience. After that initial letdown, when I saw how much better this was than Overbrook, I decided to use it as a learning experience. Failure can lead to success. I’ve surpassed all of my goals. I’m faster than I’ve ever been. I wish I hadn’t taken last year off. That was a big mistake. I was just being lazy.”Against La Salle, Wallace far from dogged it. He contested the 200 freestyle and 100 free on an individual basis and was a member of Bonner’s 200 and 400 freestyle relays. He handled that workload in about 45 minutes. Preparing for those races, he gets plenty of help from his teammates.Before Wallace is required to report to the blocks, a Bonner swimmer finds him on the deck and escorts him to his lane. Once he climbs out of the pool, another teammate brings him back to the Bonner area of the deck.“This year’s team has been phenomenal,” said Lucy Wallace, Matt’s mother. “The atmosphere has been great. He really feels accepted.”For most of the day, Wallace wears prosthetic eyes. When he attends swim practice or a meet, he removes them, to ensure he doesn’t lose one. That lesson was learned the hard way. The only other time he isn’t wearing the prosthetics is while he sleeps.Aside from swimming, Wallace has been involved with the Blind Sports Organization, based out of Philadelphia, since he was a 6-year-old. He’s regularly played “goal ball” and “beep baseball” and his passion for sports is evident in his addiction to ESPN’s SportsCenter. He’s even dabbled in water polo, albeit in a special practice set up by Stuhltrager.So his athletes could understand what Wallace deals with on a daily basis, Stuhltrager had the Friars place duct tape over their goggles. What ensued was a water polo game in which Wallace was dominant, scoring once and assisting on the only other goal tallied. Meanwhile, the rest of the Friars were at a sensory loss, one swimmer continuing to wade through the water five minutes after play concluded, unaware the game was over.“You have a real appreciation of what he deals with every day,” said Jeremy McDevitt, a junior and Bonner’s top swimmer. “We just get in and swim. He has so much to overcome. Before I got here, I heard stories about him. Then you see him pushing himself in person and it’s unbelievable. It’s so motivating. He’s a hero to the team.”Before enrolling at Monsignor Bonner, Wallace attended only schools for the visually impaired. He spent kindergarten through sixth grade at St. Lucy’s Day School for Children with Visual Impairment and moved to Overbook School for the Blind for seventh and eighth grade. It was during his middle-school years that Lucy and Jim, Matt’s father, decided their son needed to enter a regular learning environment.“He wasn’t too happy about going to Bonner because he had found a comfort zone,” Lucy Wallace said. “But we knew he needed Bonner and as he’s grown up and matured, he’s seeing that, too. At Overbrook, everything was done for him. He has to work at Bonner. Nothing is handed to him. When he goes to college, we know Bonner will have him prepared.”Since Wallace resides in Marple Township, the Marple Newtown School District has played a key role in his education at Bonner. It provides him with a Braille Note, a computer in which Wallace keeps his homework, e-mail and assignments. The district also has provided him with a vision teacher, Jeanne Aaron. Among her duties are turning upcoming tests into Braille.Wallace’s class load isn’t exactly easy. A strong student, he’s taking Advanced Placement English and is an Honors student in his other subjects. He’s also been busy with extracurricular activities, serving stints with the newspaper and yearbook. His favorite duty, however, is his involvement with the morning announcements.Before Wallace leaves for school, he turns on ESPN or listens to XM Satellite Radio and familiarizes himself with the results of the previous night’s games, particularly those of Philadelphia’s sports teams. Wallace then goes on school television and updates his classmates on the latest news.“I needed that development and to be surrounded by kids who didn’t have the same disability,” he said about attending Bonner. “I was kind of childish. It took some time, but I’ve grown up.“And Overbrook wasn’t good for me academically. I needed to go to a place where I was going to be pushed in class. There was definitely a transition period, getting used to the tougher classes and fitting in socially.”A devoted fan of Ohio State sports, Wallace will have to buy some Cherry and White apparel next year, when he begins life as a Temple University student. Wallace plans to major in journalism, with the hope that a career awaits either as a television/radio sports commentator or as a sports writer.Think a career in sports journalism is impossible? Think again. Hal McCoy of the Dayton Daily News has covered the Cincinnati Reds for nearly 30 years. Since 2003, he’s been legally blind, the result of multiple strokes. And legendary Los Angeles Times columnist Jim Murray continued to write despite losing sight in his right eye to a cataract and sight in his left eye to a detached retina.While Wallace has no vision, it has not hindered his dreams. If journalism doesn’t end up in the cards, perhaps a career in comedy is an option.“Maybe I can’t do play-by-play, but I could be an analyst,” said Wallace, who also considered West Chester University. “Donovan McNabb and the Eagles aren’t going to win a Super Bowl any time soon. How hard was that? The reality is that I’m going to have to work a lot harder than most to get what I want. But I believe I can get over the barriers in front of me.”The day Matt Wallace joined the Bonner swim team, he wasn’t looking to be a motivational figure. That’s just how his high school career has worked out. Wallace’s story has been an anything-is-possible tale — for his teammates, competitors, coaches. Faced with a disability, he has found a way to overcome and get the most out of his high school days.All the while, Wallace hasn’t felt sorry for himself.“There are times when I wish I could see,” he said. “It would be nice if I could drive, but it’s not something I’m going to dwell on. There’s no point in doing that. The things I can do, I try to do them as best I can. With swimming, it’s a great sport for exercise and staying in shape. I’ve enjoyed every minute of it and the bonding with my teammates. I’m going to miss this.”His inspirational story will carry on.John Lohn is the Deputy Sports Editor of the Daily Times