Great Strides For Cystic Fibrosis 2012

Tweet My friend, Darby, has posted before on Really, What Were We Thinking about her son, Brady.  As we approach the 2012 Great Strides Walk for Cystic Fibrosis, I wanted Darby to have the opportunity to update all of us on how Brady is doing and, hopefully, help raise awareness and money again for this important cause.  To learn more about Brady and his family, check out Darby's blog, Keep on going...no matter what!

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Cystic Fibrosis...it's a progressive disease with no cure and an average life expectancy of 37 years old...CF is a genetic disease that causes mucus to build up in the lungs and digestive system resulting in chronic lung infections.  98% of all CF patients are pancreatic insufficient meaning they are unable to digest the fat in their food.  CF affects the respiratory system as well as the digestive system...it's a life threatening disease that affects more than 30,000 people in the United States.

Jeff, Brady, & Darby at the Great Strides Walk 2011

Our 3.5 year old son, Brady, has Cystic Fibrosis.  His days are filled with breathing treatments, chest physiotherapy, medicines, and g-tube feedings.  He spends each day fighting to stay healthy, and he spends a lot of time in the hospital each year, with his first hospitalization at only 5 months old. 

Brady will fight this disease for his entire life.  As a lot of people take for granted the ability to breathe, that's something he will always struggle with and be grateful for...he is blessed with each breath he has.

We are walking in the 2012 Great Strides Walk in May this year, and we ask everyone to either join our team in Virginia or to find a walk in your area and walk for Brady and the other 30,000 people fighting this disease.

Please donate to this cause so our child, and many other children, may have a chance at a longer life...come out and walk at a Great Strides walk near you...don't take for granted the breath you have.

Click here to make a donation to Great Strides

Mitochondrial Disease Awareness Week

Tweet As Mitochondrial Disease Awareness Week comes to a close, I am finding myself truly in awe of the moms & dads I have gotten to know through Klaw's VLCADD diagnosis.

Klaw has one of the more common fatty-acid oxidation disorders, VLCADD...not that "common" among rare disorders really means a whole lot.  He has, for the most part, been textbook VLCAD deficiency, as far as his blood work goes.  His newborn screening levels were so out of whack, there wasn't really a question about it being a false positive, which can occur.  His follow-up blood work showed clear signs of VLCADD.  His DNA mutation analysis merely confirmed what his specialists were 99.99% sure Klaw had.

So far, outside of the initial newborn screening, VLCADD hasn't thrown us any surprises.  For that, I am grateful.

Well, there has been one surprise.

I have been surprised by the community of families living with the various mitochondrial disorders.  I avoided looking into support groups until Klaw had his first hospitalization.  I was still living the fantasy that Klaw would be asymptomatic and I wouldn't have to worry about all of the extra issues that come with VLCAD deficiency.

I avoided it out of fear.  I was scared to hear what other families have gone through.  I was scared to face the potential for worst-case scenarios.  I was scared to face every aspect of Klaw's disorder.

I'm sure some of y'all that have known me for years find it difficult to think of me avoiding something out of fear (except for spiders); I promise it happened.

However, I'm glad I finally pushed through and I'm sad that it took a hospitalization to make me accept that I might need a bigger support group than just myself.  The mitochondrial disorder & fatty-acid oxidation disorder support groups have been a resource of information, of new studies & treatments, and sometimes just "yeah, been there...you aren't alone" emails.  If there's anyone living with mitochondrial disease, my single biggest piece of advice is to reach out to the support that is out here on the internet.

You aren't alone.

Yes, there are many many faces of mitochondrial disease and many different ways it will affect our lives.  Our experiences are all unique but we can help each other push through the hard times and celebrate the blessings.

This is our face of MITO

I want to thank all of you reading this blog and these Mitochondrial Disorder Awareness Week posts.  Each one of you is another person who is now aware of these rare diseases and can share this information with others.  Early diagnosis, which brings early management, is the best defense we have against mitochondrial disorders right now.

Please keep sharing the information.

You never know who is reading (or listening)...

Remember the Mito Angels we have lost.

Mitochondrial Disease Awareness Week 2011 Guest Posts
The Day My World Stood Still - A father's perspective
LCHAD - A mom's difficulty in getting a diagnosis without the newborn screening
Wish GRANTed - A sister's determination to help her brother
A Great Day - A girl's day to day life with Mitochondrial Disease
He Looks Great! - My post about the dangers when doctors are unfamiliar with Mitochondrial Disease

Mitochondrial Disease Awareness Week

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Mitochondrial Disease Awareness Week is just around the corner & I am in the process of lining up several guest bloggers to share their experiences living with MITO. I hope that it will be an informative and thought provoking week. I still have spots available for the week and, if possible, I'd like to feature MITO bloggers during the following weeks. If you are interested in submitting a post, please contact me at ReallyWhatWereWeThinking (at) gmail (dot) com.

I'd also love to hear from all of you what you'd like to know about Mitochondrial Disease. I've discussed & described Klaw's life with VLCADD in several posts, but the fatty-acid oxidation disorders are just one branch in the family of mitochondrial disorders. Please leave your questions in the comments or email them to me at ReallyWhatWereWeThinking (at) gmail (dot) com. There is no question too small, long, or personal.

So, folks, what would you like us to cover in the coming weeks about mitochondrial disorders? Has your life been touched by mitochondrial disease in some way?

a blogging challenge

Tweet I'm sure we all have things we'd like to change about our home. Big things, little things, maybe even some upgrades.

My wants for my house are simple. I want to get rid of some of the junk. Some of the junk is literal junk and needs to be taken to the dump. Some of the "junk" just needs a ride to the local Goodwill. However, much like a weed, if it doesn't belong in our house, it is junk.

So, I've challenged Chris to declutter our house (with my help, of course) and blog about it.

As of yet, he has pointedly refused to accept the challenge.

I am, as you might guess, disappointed. Disappointment is what led me to this very public challenge.

Chris Bra', REMOVE THAT CLUTTER!

Do you have rooms in your house that seem to collect everything?  Do you get overwhelmed by clutter like I do?  What challenge would you like to issue in your home (to yourself, to your kids, to your spouse, to your neighbors, etc)?

Taking Great Strides for Brady

Tweet  This year, we are participating in a Great Strides Walk for Cystic Fibrosis as part of "Brady's Bunch."  Brady is the son of our friends, Jeff & Darby, and he has Cystic Fibrosis.  We met Jeff & Darby through the Navy when our husbands served aboard the USS New Mexico together.

Darby maintains their blog Keep On Going...No Matter What!  They hope to get the word out about Cystic Fibrosis and some of Brady's other medical conditions just like I hope to spread the word about VLCAD.

I asked Darby to write a guest post for our blog because I've learned so much about Cystic Fibrosis through her & Brady.  I've also learned a lot about about how to keep my head above water while working through Klaw's genetic disorder.  Enjoy!

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Brady is the happiest little boy you'll ever meet. He doesn't have a
care in the world...he loves his life, just the way it is, and longs
for nothing! Don't you wish to long for nothing one day? I sure do:)

Even though he's made to do 2 breathing treatments, 2 chest therapy
treatments, take 10 medicines, and do multiple g-tube feeds each day,
he is just the happiest thing ever! He looks forward to his breathing
& chest treatments as they are "fun" for him. He even fake coughs
when he sees the equipment! Why is all this necessary for Brady?

He has Cystic Fibrosis... what is Cystic Fibrosis?

We feel honored that the Lord chose us to be Brady's parents, to take
care of him, to raise him, and to love him. We wouldn't want him to
be any other way than he is...regardless of how long he lives.
Currently the life expectancy is about 37 years old, and Brady's 2.5
years old right now. We have plenty of time to show the world how
much we love our son and plenty of time to get the word out about
Cystic Fibrosis, which is a progressive disease with no current cure.
Brady will spend his entire life fighting to breathe...what will you
spend your life doing? Personally, I'm an avid runner, as running
clears my own lungs of whatever is in them, and running will clear
Brady's lungs of all the bacteria/infections in them on a regular
basis. Running is the best form of "natural" treatment for Cystic
Fibrosis patients, and we can't wait until Brady can learn to
run...walking is first on our list though...
he's almost there, but not quite.

Here's a quick example of why running is so important for CF
patients...take a minute and check this out...

Every spring is the Great Strides Walk for Cystic Fibrosis...this will
be our second year walking as last year Brady was in the hospital on
the day of the walk so we weren't able to go.

Check out our Great Strides Page for more information on the walk.

We want CF to stand for Cure Found!

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If you would like to make a donation to help find a cure for Cystic Fibrosis,

I've added Darby's Great Strides widget to my sidebar. 

Righting Past Wrongs

Tweet Several years ago, while Chris & I were living in California, Jimmy Buffett had a show in San Francisco right around the time of our anniversary. I had the Ticketmaster page open & all Chris needed to do was enter our debit card information & click "submit."

Evidently, that hint was not obvious enough.

I just found out that Jimmy Buffett is coming to Virginia Beach this May. Tickets go on sale this Saturday at 10am.

Chris - this is your chance to right a past wrong & make me finally shut up about San Francisco.

Update 12MAR2011: Jimmy Buffett tickets did not actually go on sale at LiveNation until 10:20am EST.  Yes, I sat there & refreshed the page for 20 minutes. I immediately tried to purchase tickets and failed.  The General Admission/Lawn tickets are $30 apiece ($46 with fees) and the scalpers are selling those tickets for $114 apiece ALREADY!!!  Sorry.  As much as I love Jimmy Buffett, I am not spending $228 on two tickets.

The Latest on Klaw!

Tweet Okay...I've been waiting to cover Klaw's latest & greatest doctor appointments until I had as much information as possible.

I'll start with the easy stuff:  He is just over 16lbs and just over 25".  He is growing exactly like he should be and everyone from his pediatrician to the geneticist are very happy with his growth and development.  So far, he seems to be a little ahead of average on the development chart...much to my dismay.  I am not ready for a mobile Klaw.  However, Chris & I are both overachievers, so I guess it's understandable.  He started having some issues with reflux, so he's been getting a little rice cereal added to his Monogen at every meal. Thankfully, this was enough to help him out and we haven't had to move on to medicine.  He still has to eat at least every four hours, so I am feeding him on demand throughout the day and then setting my alarm for every 4 hours at night.  Once he hits the 5 month point, we should be able to go 5 hours between feedings.  I cannot even begin to explain how much I am looking forward to that extra hour at night.

Our pediatrician wants us to start introducing Klaw to slightly thicker rice cereal with a spoon...Klaw just wants to rip the spoon out of my hand, kick the bowl over & gag himself.

Okay, now for the more technical stuff:  Klaw's biochemical workup was great.  His c14 levels are...are you ready for this?...NORMAL!!!!  YES!!!  NORMAL!!!  His l-carnitine levels are also right at the normal level.  This is music to my ears because this is basically confirmation that the formula & pantothenic acid supplement are working.

We also sent his blood off for a DNA workup.  He has the V283A mutation, which has been reported before...in fact, he has a double copy of it, which means he got the SAME mutation from both Chris & me.  Naturally, I asked the genetics counselor if this meant we were related and she assured me that it did not mean that we were secretly first cousins but that somewhere in our background, we most likely share similar ethnic ancestry (not necessarily relatives...I asked again!!!).  They found another variation that has not been reported before and they do not believe it will bear any clinical significance (fingers crossed).  Our next appointment is in October and they will be able to let us know if there are any clinical symptoms that correlate with V283A at that time.

Now, for everyone who knows me...I can't wait until October.  I really can't wait knowing that I have the full power of Dr. Google with me!  So, I did a little searching and from my not-so-scientific research, it looks like this particular mutation is fairly common in ASYMPTOMATIC patients.  It's not always asymptomatic and his secondary variation could definitely be a factor, but how often do you find potentially good news doing a google search regarding something medical???

And since he's so freaking cute...

Let's get this show on the road

Tweet The USS New Mexico arrived home safely yesterday and I'll get to see Chris tonight!  He had duty, so his personal homecoming had to be postponed by a day.

I'm 39 weeks pregnant as of today, so I am perfectly fine if Klaw would like to move out of my dinky little uterus & into our big ol' house even though I don't plan on evicting him unless it's medically prudent.  Plus, it would be nice if Chris actually has the chance to meet his son.  Yes, Chris will only be home for a limited amount of time (BOO HISS!).

Here's a link to the USS New Mexico if you are interested in learning more about this brand new boat.

What I Wish for My Son

Tweet I'm sure everyone has hopes and dreams for their children.  These are mine:

I wish for my son to never doubt how much he is loved.
I wish for my son to know that his home is a place where he can feel safe & secure.
I wish for my son to learn how to love and respect other people through the example of his mother & father's love and respect for each other.
I wish for my son to respect himself.
I wish for my son the ability to express his feelings without fear or doubt.
I wish for my son to learn that what you own is not who you are and that who you are is far more important than what you own.
I wish for my son to understand that, although he is one small part of a much larger community, he can and will impact the world around him in some way.

and...with a nod to my husband:

I wish for my son to be left-handed and the best pitcher ever recruited by the Chicago Cubs.