Ding Dong, Christmas is over!

For my family Christmas means many different things..... And it doesn't necessarily have anything to do with religion, most of the time. And I do say Happy Holidays, but I've always said Happy Holidays, long before this war of words came into play about Christmas time... To me Holidays are about fun, doing things that you don't always get to do. I mean, Europeans call their vacations holidays. It's just a fun word, there's no implied meaning to it.

Getting back to the religion thing, though. Religion is personal. I'm reading a book right now about the Hawaiians. They wouldn't even speak their one true God's name becauseit was so sacred and they couldn't bear to have anyone disrespect it. That is such a different concept from the Protestant churches I grew up in. There's that whole Great Commission aspect of going out into all the world and preaching the Gospel. But I don't think the Hawaiians were altogether wrong, because sometimes the spoken word is meaningless. We can all say whatever we like, but if our actions and how we live, do not match with what we are saying, no one is goingto listen to us, anyways.

And who says that you need to speak or say anything to be a blessing to people. Javy has a very limited vocabulary and only those who are really close to him, actually no how he communicates. But do you know, I've had complete strangers come up to me and tell me what a blessing he was. I had one lady come up to me crying, because there was something in Javy's eyes that reminded her of her recently departed son. I even had a close friend tell me that Javy inspired him to be happy in every situation. Wow! That is truly a blessing....

So getting back to Christmas. I try to make our Christmases special and magical, just like our mom made them for us. This Christmas, we spent time with our friends. We watched whales and the sun sink into the ocean. We played, a lot. And we ate. I invoked the memories of both of my Grandmas. I made biscuits and gravy, just my Grandma Pentecost. And then I made the Strawberry stuff that my Grandma Williams fixed us every Christmas. My Grandma Williams didn't cook much, in fact, my Dad always complained that she starved them when they were kids. But what she did cook was the best. It was a great Christmas and judging from Javy's laughter and smiles, it was magical for him, too.

Merry Christmas, and push your own kid up the hill!

Last Wednesday night, Javy participated in his school's Christmas program with his third grade class. It's great, really, that Javy, as well as the other Special Education students participate with their general education class. I mean, in Alabama, he never really got to, unless it was something that Miss Laura did. So for this, I am very grateful. But here are some general observations that made me go, "hmmmmm." Javy's Special Education teacher was sick so she couldn't be there. So we dropped Javy off with the third grade class and one of the third grade teachers, who Javy was absolutely smitten with, explained that she was nervous about pushing Javy's wheelchair up the hill. I said, Okay, I will help anyway I can, so I can do it. Relief washed over her. Later, when I had a chance to think about this, I wondered, how hard is it to push a wheelchair up a small hill. And do they think that Javy is really that fragile. Now, I don't blame the teacher, at least she was honest. But it brought to my attention something about how people who are not around special needs kids and their perception of them.... For my family, we try to provide the most normal atmosphere possible for him. We let him roll himself down the hill (with an adult monitoring the traffic situation) in our drive way. I let him explore and climb around all the time. I'm not sure how to remedy this because the only way to know is to spend time with kids like Javy. I don't blame people for being cautious. Oh well...I guess that's all of my rant. But here's Javy's Christmas performance.

Facebook

You can also find us on Facebook at Adventures in Javyland. I'm not sure how to link these two pages together. I think it's easier to post photos on Facebook and I'm about to put up a big photo montage.

Is there a Geneticist in the house?

Javy had his annual appointment today with the geneticist. I have to say that this guy was pretty awesome. He's been seeing a geneticist since he was about 3 years old. His first one was from UAB and they are supposedly highly rated. Since we've lived in Hawaii, he's been seeing geneticists from the Hawaii Community Genetics and this time they came to Kauai. The thing I liked about this guy was that he was very open, he spoke freely. He gave us hope. He's young, though, hopefully he won't become jaded and closed mouthed, like some. I felt like I could ask this guy about anything and I did.

Anyways, they're gonna do some tests for GA1 and Fragile X syndrome. Also, he's the first doctor that ever suggested that we do some tests on his major organs, just to make sure that they function normally and see if there's anymore clues about syndromes to test for. This is one of the hardest parts about Javy being undiagnosed, not knowing what kind of hidden health problems he could have. I mean, he can't tell us when things aren't feeling right in his body. He has to be really hurting to cry.

But he also confirmed the possibility that maybe Javy was having seizures from birth and it just caused brain damage that are causing his developmental delays. (This is something that I've actually asked doctors about before) and that he does have characteristics of a child with pervasive development disorders (this is what autism falls under). This could be why he lacks certain social skills and communication. He recommended a developmental pediatrician who could help us work out a plan to help him get these skills back.

The fact is that this doctor just told his opinion and we talked to him for almost an hour and a half. I'm not sure why some doctors have to act like everything that they are thinking is top secret. I guess they are just afraid of being sued. I don't care about all that, I just want to know what is wrong with my son.

Happy Thanksgiving and God bless Mom!

I was just getting ready for bed because I have to go to work very early in the morning. Before I can go to sleep, I have to give a special shout out to my mom. I am very very grateful to have her in my life. She has been by my side since I first found out I was pregnant with Javy. She stayed by my side when they admitted me into the hospital two weeks before Javy was born and slept in that little chair, beside my bed. She held my hand when I was contracting and my heart rate kept going down. She watched Javy's introduction to the world. She been with me at all the doctor's appointments. Slept by his bed every time he was admitted to the hospital and when he had his surgery last year at Shriner's Hospital. It is so awesome to have this kind of support in my life and I am truly grateful.

KORE

By the way, Javy went surfing for the first time in October. It was one of the most awesome and amazing experiences. A group of saints known as Kauai Ocean Recreation Experience (KORE) meet every four to six weeks and help people who otherwise couldn't experience the ocean in an awe inspiring way. Check out their website at http://korekauai.com/, Javy made the front page. All of the volunteers create this wonderful environment where you don't have to worry about anything. They do anything to get everyone into the water and there's no worries. Thank you, KORE!

Denial

So on Monday, I took Javy to the Department of Health, Developmental Disabilities Division for an intake interview. I happened to find out that the State of Hawaii has a Developmental Disabilities Division when I was googling anything I could think of to help me diagnose Javy (That's what having a child with an undiagnosed disorder comes down to sometimes, googling.) And Google is so smart nowadays that it knows that I live in Hawaii. Basically, their services provide home and community based services, including hiring someone to come into your home and do chores for Javy. For more information check out their website http://hawaii.gov/health/disability-services/developmental/index.html.

Anytime we meet someone new like this and we have to rehash the past and it dredges up all those old memories. For the interview, I brought all of Javy's medical records, schools records, and anything else I thought would help prove that we needed their services. I even found the original paperwork from Javy's first evaluation after his nine month check-up when the doctor first told me that Javy had developmental delays. Thank God, I can finally read those words without breaking down and crying.

For Javy's nine month check-up, I took him to his pediatrician, Dr. Battles at the UAB Clinic in Huntsville. I remember sitting in that tiny little white room with Javy sitting on my lap and mom sitting on the other side of the bed. An intern came in and asked us a bunch of questions and then she started to play with Javy. She put a pen in front of him and he didn't try to grab it or follow it with his eyes. He never looked to see what the noise was when she rang a bell. Nor did he follow the pen when she dropped it. Still clueless, I was getting very annoyed because she was making such a big deal about it. I thought, all babies are different and develop on their own good time. Then the doctor comes in, she plays with Javy, too. Follow the pen, Javy. I start to make excuses for him. He just doesn't want the pen. He grabbed my pen, yesterday. Ms. Williams, Javy appears to have some developmental delays. I'm recommending him for further evaluation so he can receive early intervention services. What does that mean?

The doctor says in a very technical way, Javy did not meet the standards of a typical 9 month old. Why is he not developing normally? Will he ever walk? Is he going to be alright? Javy will have to have more tests to figure that out. Here, (hands me an appointment card) take Javy to his evaluation and he can get therapy. I left that doctor's office so pissed off and very confused. But being the perpetual optimist that I am, I just decided that she was wrong. Javy would catch up and being playing soccer with all the other preschoolers.

Fall Break Part Dos

Here is the conclusion to our Fall Break 2010. I know, I know, it's been over a week since it ended. Well...what can I say, I wanted to put together the perfect video. Fall Break ended without any more scars or bruises. We went to the Queen Emma Festival, up at Koke'e on Saturday. We had the honor of watching the most beautiful Queen Emma sing and dance. If you don't get chicken skin listening to her voice then check your pulse. The Queen Emma Festival (EO E EMALANI I ALAKAI FESTIVAL) commemorates Queen Emma's 1871 trek up to Koke'e from her Lawai home on horseback. I imagine that was an awesome journey and there's no way to imagine the beauty, they must have seen. As beautiful as Kauai is now, it must have been even more amazing before tourism and modern society left it's mark. But I digress. It was a beautiful day and Javy had a great time, rolling down the hill and eating anything he could get his grubby hands on. The rest of the weekend included Salt Pond and 4 wheeling driving on the sand. A great week all together.

Fall Break Part 1

This week is Fall Break for Javy! What's remarkable about this Fall Break is that Javy is exhausting. Like I've said before, Javy has been off his seizure meds since August. His activity level is like a toddler. Remember those days when your child was crawling everywhere and there were gates everywhere and everything had to be hid and out of the reach of little hands. Yep, that's were we're at. The only difference is that Javy is about 63 pounds and over four feet tall and he has wheels. What this also means is a lot more bumps and bruises.... Another words we have a Brendan Williams Jr. on our hands.

Here's a list of this week's events so far:

Sunday was a wash for me because I had to work until 4:30pm, but when I came home there was a huge scratch on his cheek coming from his mouth. Mom is not sure how it got there but we think it was somewhere between the time he got stuck under the table for the fifth time and when he got his head wedged between the shelf on the TV stand and nearly choked (don't worry, mom was right there and got him out of the predicament). Lesson learned, he can no longer be left alone in a room.

Monday we got to go to Salt Pond. It was a great day and Javy swam for a about an hour.

Tuesday my back was so sore from going to Salt Pond, we had to take a day of rest. I have to carry Javy down to the water and it takes a toll on my back and hips for that matter. I'm going to have to come up with something soon. The boy keeps growing. Maybe a jogger stroller is the answer for now, I'm going to research it more. Swimming is the best thing for Javy. My sister bought him a nice swimming pool but since we moved to the new house, we have to put up a fence. Lesson learned: I need to get in better shape.

So we played in the house and that really showed me how active this boy is. It's actually pretty awesome. He was all over the place, and pretty much everywhere he wasn't supposed to be. Climbing up on furniture and trying to stand. Grabbing everything on the tables.

Then later that night, I think he got overheated because he had a crying jag and he hasn't done that in a really long time. I had put him in bed and we heard laughing and then somehow it turned to crying. I took him out of bed and after several attempts to calm him down, he just never calmed down. He finally fell asleep on my bed with the fan blowing directly on him, laying on his belly.

Finally, this morning, we were playing on the floor in the den and Eli the cat decided to get in on the action. Javy pulled himself on his knees and took off for Eli. Eli just laid there and I thought it would be okay because he wasn't scared and Javy can be really loud when he's excited. So Javy gets to Eli and he just lays his head on Eli and Eli takes it for a little while. Then I see the paw come out and smack Javy on the head, above the eye. Javy was kind of shocked but he never cried. Eli got him pretty good and a little blood came out.

The week is only half way over.......

The first half of the video is part of Javy's crying jag last night. The second half is Javy this morning with all his combat wounds.

I'm going to return to Memory Lane in my next blog. For this blog, I really want to talk about the present. Javy has been off of seizure meds since August and he has been more aware of everything. Yesterday, he had a really, really good day!

We decided to drive to the other side of the island to see if it was still there. (Yeah, it is.) Javy was so attentive during the drive over there, and it's a pretty long drive, maybe two hours or so. He was totally engaged in everything that we did.

Also, a lady approached us and introduced herself to us. She has a son about a year older than Javy, who is wheelchair bound. She is an amazing person, she fought to have her son stay at his local school, which is next door to their house. They tried to tell her that he needed to go to another school that was better equipped to deal with special education. She managed to fight them and save face. After all, as she put it, it wouldn't do her son any good to alienate everyone. I think this is someone that we need in our life, because she has a true talent.

Here's a video that my mom managed to capture of Javy. In it, he is trying to open the door of the car (don't worry, child-safety locks are enabled.) And then he is dancing to the music being played on the radio. He wouldn't have done this a couple of months ago.

Before we knew....

Before we knew....

there was relief, rejoicing, and sleeping.

There were ordinary, day-

to-day extraordinary occurences:

And there were plenty of dreams: Dream of becoming a rockstar, playing with the big boys and sumo.

Genetic and Rare Diseases Information Center (GARD)

After I made my last post, I was thinking about what difference it makes that Javy doesn't have a diagnosis. Imagine if your child suddenly started coughing uncontrollably and having trouble breathing. The doctor's run tests and they can't seem to find the source for these symptoms. Your child's get worse and has to be put on a breathing machine. Your whole world now becomes about your child and trying to figure out how to ease your child's pain. And the doctor's are totally into finding out why, because these symptoms are becoming life threatening, so they work diligently to find out why???

Well, with Javy, his lungs work, his heart works, its seems that he will have a long, healthy life.... Except for the fact that he is noverbal, his legs are so tight they cross when he tries to walk, and he has the mind of a 12-18 month old. He's eight years old and he just now is figuring out how to push his wheelchair independently. He needs assistance to feed himself, bathe himself, to do just about everything. Healthy, but far from any kind of independent life. So year after year they geneticist run tests that always come back negative, he has the occasional MRI, that give no clues as to why this is happening to my child. We've asked plenty of doctors why. Some have pretended to be sympathetic and interested, while some have kind of given the impression that they could care less. One doctor we saw in Birmingham, just kind of shrugged his shoulders like who cares, when my mom asked if there were any more tests that could be done. We even tried to get him into a new program at the Children's Hospital in Birmingham that would run more specific tests like a PET scan, but we were told that it wasn't medically necessary for Javy. So we wait, hoping that this year, the geneticist will pull something out their hat.

So I'm thinking about all this stuff, I mean who does care. I mean, why does it matter. Javy is healthy. After all, treating the symptoms is what they would continue to do even after they found a diagnosis. Over the years, I've learned to just go with the roller coaster ride that comes with Javy's condition and appreciate all the good. But still there's just something missing... I can't just be satisfied with that. What if there was something simple we could do after we find out specifically what part of the brain was dysfunctional? What if there's something that I'm doing with him now that's making his condition worse, like certain types of food or whatever? Too many what-if's already! It's really really tough, but we got to keep fighting even when we get those blank stares from the doctors.

How amazing is this? I'm watching CNN cause that's what is on at work, otherwise I would never watch CNN. Sanjay Gupta is doing a report on the Disease Detectives, who people go to when no one else can find out what is wrong with them. Now I'm thinking, well, Javy doesn't have a disease? But I go to CNN.com and look up the story and there's a link for the National Institute of Health. And it's there that I find a tab for the Genetic and Rare Diseases Information Center (GARD) http://rarediseases.info.nih.gov/GARD/Default.aspx. So there's all kinds of links that I have yet to explore and I even found a research clinic that may be beneficial for Javy. More to come on this subject...

Yeah, just reading that last and only post, my blogging record isn't too strong. But here we go again, I need an outlet and a place to advocate for my son. He's 8 years old now, we're living in Hawaii, where he has done so well. But it still seems like the community for disabled children is so closed off. There is still no change in his diagnosis. He has really great doctors here, but it's always the same roadblocks. I want to use this blog to help make people aware that there are people out there who don't have diagnosis. It's a very isolated place to be, because I have found not advocacy groups dealing with this category. Cerebral Palsy has UCP, Autism has Autism Speaks, etc. What is out there for those who basically don't know what will happen in the future. Sure a diagnosis isn't the end all and won't help my son walk or communicate, but it will give us something to start with.