What is Rett Syndrome?

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From Wikipedia:

is a neurodevelopmental disorder affecting gray matter. The clinical features include small hands and feet and a deceleration of the rate of head growth (including microcephaly in some). Repetitive hand movements such as mouthing or wringing are also noted. Girls with Rett's Disorder are prone to gastrointestinal disorders and up to 80% have seizures. They typically have no verbal skills, and about 50% of females are not ambulatory. Scoliosis, growth failure, and constipation are very common and can be problematic.

The signs of this disorder are most easily confused with those of Angelman syndrome, cerebral palsy and autism.

From Mayoclinic.com:

Rett syndrome is a severe, genetic disorder that affects the way the brain develops. Occurring almost exclusively in girls, Rett syndrome produces symptoms similar to those of autism.
Most babies with Rett syndrome develop normally at first, but their progress often slows by the time they reach 18 months of age. Over time, children with Rett syndrome have increasing problems with motor function that may affect their ability to use their hands, speak, walk, chew and even breathe.

The above is all true. It gives you symptoms of Rett Syndrome. The definition, even clinical description, can't convey what Rett Syndrome is all about.

 My girl, Campbell, was born October 31st, at 11:53PM in 2007. She had problems from the start with her oxygen conversion. It was scary seeing my child have her hands lifted up, and dropped lifelessly. Then came the tubes. 11 days in the hospital, and then she was ready to come home.

She was a very content child. She was always happy, unless she needed food/drink/nap/changing. A very exuberant girl. She had quite the personality.



After a few months, we started noticing she wasn't hitting any of her developmental milestones, like rolling over, crawling, walking, socializing. For the first few months, we weren't concerned. Her overall health was good, and she was happy. Then the time came, a point of no return, when we were forced to acknowledge something was wrong. Not knowing what it might be or what it could mean puts some unpleasant thoughts in your head, let me tell you.

Her mother made an appointment with a doctor to get a genetic test done. Lo and behold, The results came back - R270X mutation: A form of Rett Syndrome. This is the exact moment the world changed forever.

All of a sudden, one gets to know one's self. There were tears, not because of anything that happened to me, I wept thinking of what it would be like for her. I've always wanted her to have every opportunity in the world. There were some selfish thoughts, too. I looked at her and she's smile, and part of me took comfort that this precious little girl would always need her daddy.

She was enrolled in physical and occupational therapies right away. After two months, she was able to hold herself up on all fours - "quadruped position". I didn't expect it, but I certainly didn't expect what happened next. This is one of those moments you wish your whole life you had a video camera handy. I had just that. Watch her - again, she had never so much been on all fours on her own before. Always sitting or laying down.


She was able to stand on her knees! reading the definitions above, knowing 50% of these girls are non-ambulatory, for her to make such progress so quickly, and to be in such good spirits throughout,  it was a ray of hope that nothing could dim. The look of delight on her face was certainly contagious that day.

Developmental and speech therapies were soon added. At home, we also were able to get in-home habilitation specialists to work on therapy goals, and keep things consistant.

Rett Syndrome is a condition in which the protein that forms around synapses in the brain to protect and solidify them isn't produced properly. This lack of MeCP-2 keeps the brain in an immature state. We know how to move our hands, feet, arms, legs and whatnot, because the use of the muscles makes a connection in the brain. The more we use the same muscles the stronger the connection gets. The MeCP-2 protein covers this connection, to keep the connection in place, so we don't have to consciously think about how to move each individual muscle any time we move. The use of the muscles is learned. In Rett Syndrome, girls do not adequately produce this protein, so rather than atrophy, the synapses in the brain remain in an immature state. Always eager to learn, but not always able to hold on to what is learned.

We read of a study, the results of which were published 3 weeks before Campbell's diagnosis, in which laboratory mice that were given the genetic code for Rett Syndrome were injected with IGF-1(Isulin-like Growth Factor) to see if the molecular chain could compensate for the lack of the MeCP-2 protein. In
laboratory models, over the course of 3 years, the symptoms of Rett Syndrome had been reversed.

 This was exciting news, yes, but there hasn't been a single neurological disorder that could be reversed in human history. But there it was - in mice.

 I checked the article, and by finding the names of certain people, we able to locate the hospital that plans on conducting these clinical trials with IGF-1 in humans. I made contact with the people, and we are currently waiting on the start of the trial. Campbell has an excellent chance of acceptance - Can go to Boston once a month, she is the right age (2-14) and her mutation ends with X. There's a reason for that.  I'm not going into it, but trust me.

We saw Dr. Omar Khwajha in Boston, he was part of the team that identified the genetic cause of Rett Syndrome. He had some street cred. The appointment was simple - driving through Boston was not - after looking at Campbell, he said she's very mild symptom-wise. Also, that she should be walking within 1-3 years, and that is her best hope to fight off scoliosis, which is typical of Rett girls.


You've gotten the abridged story so far.

But WHAT is Rett Syndrome?

  I watch Campbell playing and enjoying herself, and it makes me smile to no end. Lately, she's been more fussy than usual, and it puzzled me for a while. She had been so happy. Then it hit me like a load of bricks: Her brain is fully functional, but the muscular control is lacking. She's frustrated. She wants something and doesn't know how she can express her wishes.
  Rett Syndrome basically takes a child away from herself. She wants to say and do so much, but the motor function isn't there. It's like being in a nightmare where you can't scream, but it's real. And it's for life. This little girl with hopes and dreams she's currently unable to express. Kills me to think about, but there is hope right around the corner.


For more information on Rett Syndrome, and stories from more parents and children affected, go to http://rettsyndrome.org

TO DONATE TO RETT SYNDROME RESEARCH ON BEHALF OF CAMPBELL, CLICK HERE

Healthcare - my humble position.

"Opinions are like assholes. Everyone's got them."

Democrats saying Republicans are just being difficult. Republicans calling Democrats Nazis and Socialist for wanting to the the little guy just a bit more power with health insurance companies.

I'm stunned over the misinformation from both sides on this issue. We have the extreme right talking about coverage for "illegals", "death panels" and "rationing" of health care. We have the extreme left trying to sound like this is an instant fix for all of society's woes.

Real health care reform, if by health care, we mean health insurance, not the actual care, would need to be much bolder. Like making health insurance compete like other industries do. Health insurance companies are exempt from antitrust laws, and redlining, as well as price fixing is perfectly fine in their industry. Take those luxuries away, and those motivated by profit will have to work harder for the consumer - better pricing and benefits - to get the consumer's money.

The bill is a very small step in the right direction. It addresses some things that have to be fixed before much else gets done, and sets precedent for more citizen-favorable legislation. No pre-existing condition clause, and no cap on care. AWESOME. People won't be afraid to get preventative care and drive the expenses down, along with overall cost.

The bill specifically excludes people in this country illegally. Saying otherwise gets people angry, but it is an outright falsehood and unproductive argument.

The "penalty" of $625 a year if you don't get insurance is to offset the fact people who don't get insurance by far have more emergency room visits because they wait too long because they don't have health insurance. If one can't afford reasonable premiums, how can they afford hundreds if not thousands in unanticipated medical bills? A lot of this doesn't get paid, and goes back to the taxpayer. Not having coverage costs more tax money, so it makes sense. Guess what else? $625 is maximum. It's tiered or even waived outright for people making under $40k.

If starting the process of taking care of human beings properly is in any way what Hitler wanted to do, I really have to re-read history books.

The arguments against that make any sense are 1) cost and 2) it doesn't do enough. Cost is speculative at best, and years of research, not to mention common sense, indicates preventative medicine will lower cost and increase productive quality of life. No bill as the first healthcare change in decades could do everything at once, nor should it. It will take time and patience. The system hopefully will adapt, people can be more productive as we work towards the rest of the changes that are so badly needed.

Local news terrorism

Supposedly, we're fighting a war against "terror". Fear. A vague concept, rather than specific individuals. Of course, we know the names of people we're looking for, but if we leave it at "war on terror" we can wreak havoc on whomever we choose.

A war on terror would likely mean bomb anything that scares us. Spiders, the dark. But our media driven society is fueled on fear. Nowhere is that clearer than with the local news... "How you're going to die... tonight at 6!"

Even worse, the WEATHER reporters are trying to frighted us. A certain local TV channel now calls it's weather report "First WARNING weather." It's funny in the springtime. It's gonna be nice. YOU'VE BEEN WARNED! They have this technology called "live doppler radar" which they mention every 6 seconds in their ads (I timed it). Apparently, this technology may one day be almost as effective as looking out the window. "Other stations" they go on to say, "have information that may be up to 5 MINUTES old. Why trust information that won't keep you safe?" A good point, if said information is "DUCK!". Other than that, I can wait 5 minutes.

Do we bomb meteorologists now?

Dirty nasty auto parts...

I'll bet she does....

Phunny Phone Book

I has a lousy day today, let's just leave it at that. As a result, however, I was looking through the Lewiston-Auburn phonebook(2004 smartpages if you wanna read along), and on page 62, where they have the three letters that signify what part of the alphabet you're on, was listed "Dub-Dum", only to be topped by page 63, "Dum-Dur".

The moral: Let your fingers do the walking, so long as they don't try and chew gum at the same time.

The superhero I've always wanted to be

On local TV stations, there's a commercial produced on about $20 budget, for the "Big Book". It's basically another yellow pages. Their commercials feature a potbellied man in a blue supersuit, helping out this lady who is about to have a stroke because her sink is clogged. He says "Have no fear, big book man is here! Big book is filled with listings for plumbers just waiting to wash your woes away!"

The nest scene, she's happy, the soapy water is out of her sink, and she dresses better. She says "Thank you big book man! You saved the day!"

What an awesome super hero that would be... Go into a troublesome situation, give the victim a phone book and tell them to call someone who cares.

State of the Union

The state of the union is strong, huh? I almost think I could take it in a fair fight.

Another great idea - let's focus money and resources preventing human-animal hybrids!

Singing: (to the tune of "God Bless the USA")

I'm ashamed to be an American
I can remember being free
and I won't forget the ones who died
They were tossed away lightly
Bug I'd proudly stand up, and take her back,
If progress were on it's way
But there ain't no doubt I love this land...
so God Save the USA

Stop Being Fat!!! Eat MORE?

Sorta. I found the wonders of protein shakes. I've been trying to get my body out of "storage" mode for the longest time - it's a result of eating one primary meal, usually at the end of each day.

I'd been skeptical of shakes ever since my Slim-Fast days. Those are good for nutrition, but as satisfying as a glass of NesQuik(Why did they change the name?). I've found a reasonably good-tasting shake, mostly whey and soy protein. Mix it with water in blender, and it gets the consistency of a fast-food "milk"shake. Tastes pretty OK, too.

Here's the best part. Sooooo satisfying. If I get the munchies during the day, make a shake. If I'm still hungry after one of those (one shake fills two 16 oz. tumblers and is FILLING) I'll eat whatever I'm craving. I'm getting muscles. Not like bodybuilding muscles or anything grandiose, but the odd crease and bulge where before there were none. I've had more energy. I'm clearer-headed.

By going for two of these wonderful things a day, I get lotsa vitamins, protein, aminos and good stuff, I don't eat just, and I make sure I keep my metabolism up a bit.

Love it. Picture to come when I gets me a haircut :)

New Horizons

I'm sure you've heard of the launch of the New Horizons probe. It's the first ship launched specifically to study Pluto and the outlying Kuiper Belt. I love it! Ever since I was a kid, I've looked up into the sky, and tried to imagine what it might be like on the surface of another planet or moon, looking back at the speck of light that is Earth.

Even better, Clyde Tombaugh's widow, Patsy Tombaugh, is alive to see the momentous occasion, as is Venetia Burney Phair, who, at 11 years old, had the honor of naming the "planet" after the Roman god of the underworld.

I can only imagine what it must be like for them, to see this day arrive at last. I only hope my daughter gets to see some day as important.

2005

Starting from the inauguration at the beginning of the year, 2005 was certainly a year that kept us on our toes. Starting the year with the aftermath of "the" tsunami, this has been a big year for disasters.

Of course there's nature. Tsunami, Earthquakes, big big hurricanes, and LOTS of them!

Have to mention the current president. The world frequently says of America "The second biggest mistake Americans made was electing Bush. The biggest was electing him a second time". It seems an administration based on a do-what-you-feel-like attitude. Replace the head of FEMA, who had years of experience actually managing emergency situation, with a guy with no emergency management experience, AND was asked to resign his former job as a judge of arabian horses. On June 5th, cut the budget that was intended for use to repair the damaged levee system in New Orleans. Send our armed forces overseas. What's the worst that could happen?

Once the veil is ripped away, don't apologize. Not for a while anyway, and definitely not sincerely. After that, nominate someone for the Supreme Court who has never been a judge. To heck with what people really think.

The pope died. A genuinely good man. I won't speak ill of him as I have a huge amount of respect for John Paul II.

Michael Jackson was found not guilty. Then he fled the country. It was a victory after all. I do feel bad for the guy. I don't know him, but he seems to have huge issues he should be dealing with rather than acting like a child.

Lots of republicans are corrupt. Blatantly. Who knew?

I've come to realize the error of my ways regarding religion. I've met many people who honestly believe in what they practice. Humble people, who are willing to give more of themselves than they have to give. It doesn't seem that way in the media. The more vocal religious figures are out for publicity, and money. Their views propagate their individual agendas, not spirituality.

That being said, I'm getting back to the dumbing down of society. Evolution is being debated. Not by people who understand it, mind you, that would lend validity to any arguments. People who believe the bible has to be the literal truth, sort of an all-or-nothing view. If the world and allt he creatures weren't created in 7 24-hour days, there is no God. How messed up is that? That doesn't sound like faith(I hear tell that you need it to get into heaven). Besides, evolution isn't being promoted to discourage spirituality, it's wondering at the dynamic nature of life, whatever the original source may be. It's based on the best scientific evidence we have, so it warrants teaching in science class.

Kentucky voted to teach evolution as a "flawed theory" and include intellegent design as a viable alternative. Georgia put stickers on science books, saying "evolution is a theory, not a fact" and so on. That was already being taught. You know, the theory of evolution as is listed in every danged science book. Also, in science class, they teach you what a theory is. Dumbasses.

The catholic church doesn't even want intellegent design taught in science classes. They admit it's not science, it's religion, and should be taught in such a setting. Who knew in 2005, the Catholic Church would start making sense to me?

There may be a tenth planet, which may wind up being our ninth, if Pluto's status is taken away.

Of course, there are people saying there are soooooo many signs of the end of the world. Lots of hurricanes, which happen every so many years, earthquakes, which happen all the time, war, famine, drought. All signs of being on Earth.

We have a very brief window in which eyes are open. Let's take advantage, and take steps forward as a race(humans). We are aware of suffering, we know we have to be more active in government, and we know we have to prepare. We have a chance to advance greatly, if we all work together, and I'm very hopeful humanity will take the lesson of 2005 to heart, and make things better.

STOP BEING FAT!! Vol. 2

Not a lot to post. I'm trying, slowly to make myself lighter. This week, especially, I've noticed most of the persistent pain in my body is gone. I have a little stiffness in my ankles still, as the tissue needs to be stretched. I've been noticing a pleasant warmth in my tummy - feels like my midsection is melting. If that's the case or not, it's encouraging.

That's really it. Progress is still being made, albeit slowly.

The Work Frontier, and some things that bug me.

I have a new job. I like it. I get paid well.

That being said, some things really piss me off. I was scared as hell to let a certain coke-sniffing, drunk-driving texas oil man take the helm of this vehicle we know as the US. I voted against him, twice, to no avail. Yet every time I express disgust, some moron tells me I voted for him.

Don't get me wrong, I love my country, and as certain disasters have shown, the strength lies not in the power of the officials but of the people. We have been told forever we're the best, we're the best, we got everything, we're awesome. Before 2001, I always thought if real disaster ever struck, people wouldn't know what to do. Apparently, we still care about other people, and that in itself is heartening. The fact that I am technically still free to express my views is a big part of why I like this big ol' country.

It's like seeing some spoiled rich get get a nice corvette from daddy, while still in high school, and watching as he drives it across the street from a parking lot into a tree across the road with sufficient velocity to total it(the car , don't worry, the tree is fine.) . For those of you who did not go to school with me, I refer to an actual incedent.

My heart goes out to those stricken by Katrina. I give blood on a regular basis, as I'm one of those universal donors you hear so much about, and I give money. I feel awful that I'm not able to give more of myself.

Still not feeling better about religion. Love the concept, but it's like the saying goes "Christianity would be great if it weren't for all the christians.". If Jesus ever comes back, there's gonna be a thousand religious freaks out there, handing him pamphlets, telling him he's going to hell for wearing a sheet like that and growing his hair long.

Photos me stopping being fat, if you need proof.

This is me this morning. Look at me! No diet books or anything! This is me, a lifetime ago. Fat as heck, and failing to grow substantial facial hair.

STOP BEING FAT!!! Vol. 1

Hey, I'm trying to lose weight, and generally be healthy, and I do NOT want to subscribe to any diet "plans" or the Atkins eating-disorder. I've been using good sense for about a week and it's already paying off.

Here's what I'm doing -

Eating earlier. Our bodies tend to store food later in the day.
Drinking water. 2 gallons a day, baby! Frequently, thirst signals are misinterpreted as the munchies.
Excersise. Duh.
Cutting down on processed sugar. This creates insulin which causes more fat to get stored in our bodies. Drinking only water helps in the respect, as I'm saving so much sugar and calories from not drinking soda.

When researching what diets work and what don't, I found you can't cut out types of food entirely. IT doesn't work, you miss out on vital nutrients which multivitiamins can't always replace, and never as well, and you wind up with an insane craving for that type of food.

People get attracted to Atkins because it sounds simple. Eat a lot of fatty foods, not so much grains, fruits, veggies. Despite that, Atkins has just as high a failure rate because it's "too restrictive." Not to mention you need carbohydrates. If you excersise without eating carbs, you don't gain muscle, in fact your ody cannibalizes it. Muscle in turn, burns fat while you are sedentary. Good stuff to have. When the body utilizes it's own stores of carbs exclusively, as it you're not getting them from food, your cells break down, and release toxins called ketones. Atkins folks say this is normal and good. Of course they say that, they're selling you something. They can't be that great if they're toxins, and cause kidney stones and gout. Not to mention carbs trigger the release of serotonin, a brain chemical vital for sleep. This is why Atkins people are cranky all the time (again, from what I've seen). You have pretty much live your life based on what you eat, which qualifies it as an eating disorder.

I have found a great tip for anyone who wants to lose weight, but their willpower fades as the diet goes on: Tyrosine. Either in supplements or from food (fish and chicken are good, mozzerella is better and you get get light versions of the cheese). This is a building block of the brain chemical dopamine, which creates and maintains mental alerness and vigilance. Since I found that out, and made changes to adjust, my willpower has gone up exponentially.

My pants that were tight a week ago fit fine now, even a smidge loose. My girlfriend gave me a hug today and mentioned I felt thinner. I haven't mentioned the dieting a whole lot to her.

Hopefully, I can document the changes in my body and what I'm doing, so others can have a reference not only on what works and what doesn't, but realistic timeframes as well. We all have common sense that'll tell us if we gorge ourselves with cake constantly we'll probably get fat. We know how to eat and what to do, I'm just trying to show that it works.

Religion/Politics/Harry Potter

We have a babbling moron in power. I had never been so afraid to be an American than during the 2000 elections, when I realized there were actually people taking Bush seriously. I could not fathom how such a blubbering moron could have such a following. One day it hit me: Religion. Christianity in specific.

Certain people are already mad without even learning what this is about. I can't say it's Christianity in specific, because it's not. Jesus had the right ideas. Good guy. What I don't like is what Christians, in general, do. They listen to the head of their church to figure out what's right and wrong. From what I've seen this is the biggest attraction to organized religion in general. "I'm so uncertain about the afterlife. After all, when I die and leave this world, whatever's next lasts for eternity.", one would think, and later,"Wait a minute - this guy at East First Babtist Church[apologies if that's an actual place] will tell me how to live and what to think, and can tell me for sure that I'm getting into heaven. Yay."

Before I proceed, I need to say something - If I talk about a group of people, you are in that group and what I say doesn't apply to you, GET OVER YOURSELF, You're apparently not that special. Just kidding on that last one. When referring to any group, I will be talking about the general behaviours I have witnessed. I may fall short, as I can't possibly observe everything all the time, and I certainly expect there to be variations withing every single group. You know whether what I'm saying does or doesn't apply to you.

Going on: I have noticed, with spiritual leaders vying for ratings (really! not enough worshippers in a place, it can't sustain itself) church leaders are increasingly feeding on the human instinct of conflict. That's what makes it easier to blame groups, so long as they're not of our church, how dare we find fault within, for societal woes.

I don't understand the gay-marriage constitutional amendment. I'm not gay myself, but at the same time, shouldn't marriage be recognized by two people who love one another? Wasn't the constitution designed to protect our rights, not take them away? People will argue that there can be no procreation in a gay marriage, but straight people go into marriages infirtile, or get "fixed" later. It's percieved as a threat, to what I don't know.

I heard some zealot call a radio station morning show recently, about the new Harry Potter book. I have read all the books and have never tried to practice magic as in the books. There are no references to Satan in the books at all. There have certainly been children's books before that feature magic. So why the fuss about Harry Potter? The books are selling better than any books in history, including the BIBLE, and may soon top the all-time charts over the erroneous King James Bible

Erroneous? Surely you jest, the book is perfect in every way. Nope. See all those italicized words? Those are mistranslations or guesses at best. The best example being "Thou shalt not suffer a witch to live" when it should have been "poisoner". When translating the use of herbs and plants for healing was looked at as evil, and those people were called witches, but also poisoners for using the plants. They picked the wrong word, and hundreds of people were tortured and burned alive. The Bible ain't perfect.

Since Jesus was such a peaceful, wise man, it amazes me that his followers can be such angry numnuts out to condemn everything that's not them. What happens to me after this world is a whole lot bigger than these people can comprehend, and what happens to my soul isn't up to any of these people. Besides, who wants an eternity with them?

Working and trying to live

I was recently diagnosed with rheumatoid arthritis. This makes things on the job very difficult, not only in terms of physical movement, but the fatigue and depression that are constant, even when I'm not in a heckuva lotta pain.

Time actually spent at work compounds the problem. I work more than 8 hours a day, 7 days a week. Sometimes I do indeed havew a day off, but the 8 hour thing is an average. 1/3 of my life for all pratical purposes. I hate sleeping, that takes up even more of my time. Time when I can actually enjoy things is precious, and having commitments to that much of my time makes me wonder quite frequently if I'm going to get ahead enough to relax and not feel guilty about it, before the next wave of pain hits, and I can't walk again.

I push myself in the workplace. I've noticed that when I actually try and take care of my own health, my boss takes that as slacking off. I don't mean shirking my duties at work, I mean not wantint to work 11 hour days 6 days a week. I mean not putting in an extra day when there's nothing to do simply because I'm salaried, and my boss feels she ows me. (no longer my boss, in case you're wondering.)

I tend to push myself well beyond my limits, so it doesn't look like I'm goofing off. This comes from people, when hearing of my condition, shrug it off and say things like "Same thing happens to me all the time, I just have to push through it."

I have a high threshold for pain. How do I know? I pierced my own nipple - slowly and without numbing it. I ripped out my own wisdom tooth - with a hammer and a finishing nail. I know pain. If I'm in bed because I say I can't walk, I mean the act of bending, even twitching my leg causes more pain in an instant than either the piercing or tooth removal. I don't get painkillers from the doctor, as they tend to "mask the symptoms" and bar the way to effective treatment. I've been going through this since I was 18, and at this point, relief is all I care about.

Back to the work subject, I've been working an overnight shift without a day or two off a month so far. The job is entirely physical, and though I am actually in better shape than when I was 18 (I'm 30, now), I do have to say I get worn out from time to time. It seems I get home, try and nap, eat dinner and get ready for work again. It ain't right, I tell ya.

Welcome.

This is my first post, and not really linked to on any of my pages now, so if you found it, wow. Pat yourself on the back, and GET OUT OF THE HOUSE. You clearly have too much time on your hands. If you're reading this way way after it's been posted, you may still have too much time on your hands, but now there are too many variables in the mix for me to make a sound judgement about you. That being said...


HELLO WORLD!

I may as well rant about something while I'm creating a post. Instant lottery tickets. Anyhwere I go into a store's customer service area, I'm stuck behind the old fart who thinks he has a "system" for playing the lottery. Yeah, if you had a system, you'd still need to play. If you wanna get tickets, make sure you keep it your business, don't make people wait. They'll only think less of you. Trust me.