CHRISTMAS, KEKOA, AND ANOTHER BABY GIRL ON THE WAY....

I can't believe Christmas is over already and tomorrow is New Years Eve!! Santa was very generous with the kids and it was really neat to see Kekoa so excited for Santa to come and bring him presents.  He was so serious about the whole idea of Santa being able to watch him all the time and know if he was being naughty or nice.  If I even hinted that he wasn't listening to me his little face would drop and he would  become so sad.  He was very concerned about being the best little boy he could be in the days leading up to Christmas.  Seeing him try so hard was really really cute and I have to say that he was on his best behavior the whole month of December. Now... not so much.  He's always pretty good but, he's being a lot more disagreable than he was a week ago.
Oliana still did not quite grasp the meaning of Christmas and Santa Clause.  She really could care less about presents. Wanting more to eat the wrapping and tissue paper. Everybody did remember this year not to wrap her presents in their boxes. We learned our lesson last year when she got so frustruated opening box after box.  She really didn't understand that there were toys inside those boxes.  This year however, we just wrapped the toys so she got the reward right away.  It was much better.  Her favorite toys were her musical and sound making toys.  Santa brought her the drum set that's pictured on the left.  As you can see by the big smile on her face, she LOVED it.  Maybe next year she will understand a little bit more.

Kekoa is still a great big brother to her.  I still believe that there is just something special about him that makes him so much more protective and excited for her. Her little guardian angel on earth.  Here are just a few examples...
My mom took them both to the park a few months ago.  Oliana loves the merry go round.  On that particular day there were other kids also playing on it.  He sat down right next to her and promptly told the other little girls that Oli was his sister and he had to protect her.  That's just what he did too. He moved to sit behind her, let her lean on him, and put his arms around her.  He also gets very excited when she says a word that he can understand.  The other morning they were both in the living room while I was in the bathroom brushing my teeth.  Kekoa comes running in and says "Oliana said up, Oliana said up. Go pick her up!!"  I also hear him talking to her in the morning on the baby monitor.  This morning he was telling her she was a silly little girl for rolling her prostethic eye up. (An ongoing problem, hopefully to be resolved in February when she gets custom fit prostethics.) Or the time he came downstairs in the middle of the night to get her sippy cup of milk because she woke up and he thought she was thirsty.  He didn't even wake anybody up.  Just got the milk from the fridge and took it back upstairs to her.  The next morning I saw it in her bed and asked my mom if she had gotten Oli milk.  She said no. Kekoa was standing right next to me and said "No mommy, I got her milk.  She woke up and I thought she was thirsty."  Still makes me teary eyed to think about how sweet that was.  He hadn't even turned 4 yet.  I could go on and on with these stories but... you get the picture.

Most of you know, I'm expecting another baby girl in March.  We did go ahead with an amniocentesis to check to see if this baby had Oliana's deletion.  She tested negative. A huge load off our shoulders.  Also when they did my 21 week ultrasound they measured her eye sockets and they measured in the normal range.  They were also able to identify both lenses in her right and left eye.  All wonderful news but,  I won't be completely assured until she gets here, I see both eye balls and then in a few months when she starts tracking.  Honestly I probably won't really relax until she's at least a year old and meeting her milestones.  All part of this I guess.  We originally were not going to find out the sex of the baby but, a lab test identified me as an intermediate carrier for Fragile X.  It's complicated but, basically it primarily affects boys causing mental retardation. Girls usually aren't affected and my number is very low, kind of a grey area.  We found out the sex just to put our minds at ease.  It was strange finding out it was a girl because I really didn't think I cared either way.  Turns out I guess I cared more than I thought. I cried and cried and cried.  Not because I was sad but, more because I was sad for Oli.  I thought of the hair and make up and playing dress up and painting our nails pretty colors and dressing up dolls....All of the things that I'm just not sure Oliana will enjoy that much.  She might but, it just makes me very sad.  I thought if she was my only girl then I wouldn't have to worry about those things. We would just do them in our own special way. My mom brought up a good point though.  Now she'll have a sister to teach her things and show her things she might not want to ask me or want me to show her.  She'll probably be closer to a sister than she would a brother especially since they'll be almost 3 years apart. I'm sure I'll still cry when the baby comes out and I see her big beautiful eyes.  See her open them for the first time, the first time she looks at me, the first time I make a face at her and she laughs.  I remember filling out Oliana's baby book the day after I brought her home from the hospital. There is a question in there that asks what color the baby's eyes are. I just bawled and bawled and sobbed because her eyes were fused, she didn't have any and I couldn't see them.  Something as simple as that, you never know how much it means to have your baby open her eyes and look at you.  I waited a year for my baby girl to open her eyes.  Beautiful blue eyes.  She couldn't see me through them but, for just a moment I could pretend that she could.  I then went home and proudly wrote in her baby book that her eyes were blue.  Just like her Grandpa's, her uncle Michael's and her big brother's  The prospect of having another baby just makes me remember when Oliana was first born and I missed all of those things.  Then I just have to think of Oliana and all the special things that no other sighted little girl does.  The special bond that we have that reminds me that the eyes are not the windows to the soul.  I think of those things and it does quiet my heart.

UPDATE: To Pea Soup

So here's just a little update to my last post. I spoke to Oli's vision teacher, Miss Judy, when she came for her home visit yesterday. She basically told me what everyone else has said. That Oli does what she does because she's totally blind. She has been a TVI for 20 years and said that Oliana is not doing anything more abnormal than what all the other kids she has taught have done. She said that if she thought there was something wrong with Oli she would not hesitate to address it and that she is definitely not autistic. I told her that of course I appreciate her expert opinion but, would still like to investigate the matter a little further and get other professional opinions. So today we went for her outpatient therapy and I spoke to her occupational therapist, Miss Heidi. She told me that yes Oli does display common characteristics of sensory processing disorder but, she is blind and it is very hard to distinguish and label what is abnormal for a sighted child and what is normal for a blind child. She additionally told me that SPD is not recognized by the DSM and they are trying to get it published and recognized in the new addition that comes out in 2012. So even if I could get someone to diagnosis her with SPD it would not count as a dual diagnosis because it isn't recognized and she wouldn't get any more services. She said that in her therapy sessions they are already addressing both the sensory and the blindness issues so her therapy wouldn't change. I believe that all her therapists are addressing both issues so I'm not as concerned that we're missing something.
I also spoke to Tanya, the genetic counselor at the Albert Einstein Medical Center, today. She was the one who diagnosed her with OTX2 and the AEMC is the research hub for anopthalmia. She said that it was ironic that I called about this issue because right now they are working on a grant to address this very concern. She said that I do have a right to be concerned about Oliana's behavior and delayed speech. They have been looking at the kids with anopthalmia and discovering that some of them have sensory processing disorders, some of them are autistic, and some of them develop just as a sighted child. But, there ARE DIFFERENCES. You cannot explain all of these behaviors on blindness. Especially not the delayed speech. They are submitting their research for the grant in January and hoping to open a clinic in July. The clinic will include a developmental pediatrician, genetic counselor, OT, PT, and ST. All of these individuals will evaluate the children and decide where on the spectrum the child lies and make recommendations for their therapists and teachers. She said they have had major problems with some of these kids ending up in autistic classrooms when they are not autistic. These kinds of environments (if the child is truly not autistic) can deprive the blind child of the tactile and sensory stimulation that they need to learn. On the other hand, many blind children that are truly autistic are getting missed and are not getting the services they need.
Tanya agreed with me that, although I would love to bury my head in the sand and ignore it, we need to evaluate her and find out what she has going on and to what degree. So we will be flying out to Philadelphia in August for the clinic. She did say that it is very promising that Oliana does not just repeat everything I say. She is specific in what she repeats. If I say something that she doesn't want she will not say it, instead will just ignore me. When I get to the correct thing that she wants then she will repeat the word. She has also been signing a couple of words independently, without me prompting her. She will ask for milk by herself and she will ask to be picked up. She signs these words. I have to be careful and pay attention though. Sometimes I'll have my back turned and then when turn and look at her and she will just be sitting there patiently signing for milk. In fact a couple of times Kekoa has come up to me and said "Mom, Oli is asking for milk". Sure enough, when I look at her, there she is, squeezing her little fists. How do parents of deaf children do it?
In conclusion to my update I'm going to re post the poem that I had originally posted last year. It's about the privilege of being a mother to a special needs child. It still makes me cry and I think it's quite fitting for this stage in Oli and I's relationship. I hope you all enjoy it.


THE SPECIAL MOTHER by Erma Bombeck

Most women become mothers by accident, some by choice, a few by social pressures and a couple by habit. This year nearly 100,000 women will become mothers of handicapped children. Did you ever wonder how mothers of handicapped children are chosen?Somehow I visualize God hovering over earth selecting his instruments for propagation with great care and deliberation. As He observes, He instructs His angels to make notes in a giant ledger.

"Armstrong, Beth;son. Patron saint.. give her Gerard. He's used to profanity."
"Forrest, Marjorie; daughter. Patron saint, Cecelia."
"Rutledge, Carrie; twins. Patron saint Matthew."
Finally He passes a name to an angel and smiles. "Give her a handicapped child."
The angel is curious. "Why this one God? She's so happy."
"Exactly," smiles God. "Could I give a handicapped child to a mother who does not know laughter? That would be cruel."
"But has she patience?" asks the angel.
"I don't want her to have too much patience or she will drown in a sea of self-pity and despair. Once the shock and resentment wears off, she'll handle it."
"I watched her today. She has that feeling of self and independence that is so rare and so necessary in a mother. You see, the child I'm going to give her has her own world. She has to make her live in her world and that's not going to be easy."
"But, Lord, I don't think she even believes in you."
God smiles, "No matter, I can fix that. This one is perfect - she has just enough selfishness."
The angel gasps - "Selfishness? Is that a virtue?"
God nods. "If she can't separate herself from the child occasionally, she'll never survive. Yes, here is woman whom I will bless with a child less than perfect. She doesn't realize it yet, but she is to be envied. She will never take for granted a 'spoken word'. She will never consider a 'step' ordinary. When her child says 'Momma' for the first time, she will be present at a miracle, and will know it!"
"I will permit her to see clearly the things I see... ignorance,cruelty,prejudice..and allow her to rise above them. She will never be alone. I will be at her side every minute of the day of her life, because she is doing My work as surely as she is here by My side."
"And what about her Patron saint?" asks the angel, his pen poised in mid-air.
God smiles, "A mirror will suffice."

PEA SOUP

Happy holidays to everyone out there!! So we've been here in Texas for two months and things are going pretty well. The schedule is pretty crazy at times but, so worth it for Oliana. She now gets therapy about 10 hours a week, unlike Las Vegas where she got 1-2 hours a week. When she goes to school she'll get more than double that which is very exciting! She receives outpatient therapy 3 times a week, speech, occupational, and physical therapy. She has a vision teacher, Miss Judy, who comes once a week. And an Orientation and Mobility Specialist, Miss Toni, who comes once a week. And a physical therapist, Miss Theresa, who comes every other week.
Interestingly, I had a discussion with Miss Theresa today about Oliana's constant self stimulation and her inability to self regulate. I have questioned Oliana's behavior to numerous therapists and doctors for the past year or so. Only to be told repeatedly that her head shaking, oral preoccupation, hand flapping, repeating of words, and inability to initiate speech were all due to her blindness. Really, in my heart, I did not believe this to be completely true. I've always felt that there was something "different" about Oli. Something that cannot be as easily explained away as just saying it's because she's blind. I've learned of many of Oliana's peers that do not display the behaviors that Oliana does. Most of the day, if left to her own devices, she would spend her time in her own little amusement park that she has created in her head and with her body. This involves numerous repetitive behaviors such as those I described before. There is lots of head shaking (our little Stevie Wonder) which I do know is a blind trait. Lots of hand flapping and touching her face. Kekoa has tried to explain to her that she has arms not wings and she is not a bird and will not fly away despite her persistent flapping. She will repeat almost any word said to her, if she's interested but, will not initiate any kind of communication. If she wants to eat, drink, sleep, play... she will not say any of these things by herself. She will repeat the word but, this involves me running through the whole list of activities that could possibly be the answer to her frustration. She spends the majority of the day crying and throwing tantrums. Something as simple as being done with dinner sets her off into a whole meltdown. This usually means her throwing her head back against the high chair, slamming her feet down and throwing whatever is left on plate onto the floor. Simply because she is unable to tell me that she is all done eating and I haven't properly developed my telepathy yet. Usually as soon as I ask her if she is all done she will say all done and then she's better. Usually...
So today when Theresa came for her PT visit Oliana was having an "Oli day" and being completely unruly. She started telling me about this disorder called Sensory Processing Disorder. It's kind of like autism but, is not autism. Kids with autism have sensory processing problems but, just because a child has sensory issues does not mean that child has autism. Basically it involves everything I described before. Oliana craves lots of sensory input. She loves big movements, spinning, being thrown, weird tactile stuff, messy play...ect. Anything that she can get the most information from. Being blind, this does make sense. I think I learned somewhere that people get more than 60% of their sensory stimulation from vision. Obviously since she doesn't have this she seeks it out in other ways. I tend to think that Oli might be on the end of that spectrum, craving even more than the average child. It's so hard to tell because she is blind but, something is just different with her.
All this means is that we need to go to yet another specialist to have her evaluated for autism and for sensory processing disorder. Sometimes I wish I was the kind of mother that could just turn a blind eye and say "Oh she does those things because she's blind". I just can't do that to her though. As much as it completely breaks my heart to think that there might be something else going on, I have to do right by her. This means acknowledging who she is and getting the professional help she needs to make her the best person she can be. If it is a sensory processing problem then some of our techniques need to change and the way her therapists view her need to change. The way I see it now, the blindness is really a small hurdle for her to overcome. Myself and her teachers really cannot teach her how to navigate and learn in a world full of darkness until we get her out of this little world that she's built for herself. We need to address her behaviors first to be able to reach her to teach her all that she needs to learn. She can't possibly sit in a classroom for 6 hours a day and learn if all she's doing is shaking her head and singing to herself.
So... onward we go. Learning new things about Oliana and trying to do the best we can to prepare her for school next year. She really is very bright and loves to learn. It's just a matter of doing it in the right way to be able to focus her attention. And despite her seeming to be possessed by a demon some days, she can be such a sweet heart. Sometimes you forget you saw her head spinning and pea soup flying out of her mouth just 15 minutes prior.

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!!!