the light at the end of the tunnel...... is getting brighter!

My eyes filled with tears of joy this morning as an overwhelming amount of hope kind of took over.  Over the past (almost) 4 years since we've discovered Kaelyn's diagnosis with cystic fibrosis, I've felt a good mix of emotions.  I'd say sadness and anger initially described my feelings towards her CF.  There were plenty of times when I just didn't understand, why us?

We're all dealt different hands in life.  Some times our hand seems unfair, and I know that's how I've felt about mine on different occasions.  Although, when it comes to the one card we were dealt with Kaelyn's CF diagnosis, I feel like I finally understand why it was dealt to us.  While CF isn't something that I would wish upon my worst enemy and it's something no one should have to face... I feel like CF is a unique blessing in disguise.  In my eyes, our family was dealt this card in our hand of life because we are strong enough to do something about CF - to keep on fighting for a cure and to make a difference in Kaelyn's life.  When I see the support we get at the walk or at a fundraiser we put together, or the way our family and friends reach out without hesitation to do whatever they can to support our hope and dream of a cure one day - how can I not feel beyond blessed?  Or when we attend various CF events throughout the year which are filled with unknown faces... people who aren't directly affected by CF but are still fighting for a cure with us out of the goodness of their hearts - it some times leaves me speechless, but once again I leave each and every one of those events feeling very blessed for my daughter.

In less than 4 years, I sit here with another change in emotion... an even stronger sense of hope.  As a parent, I've always tried to have hope for Kaelyn's future knowing CF is a progressive, terminal disease.  If it weren't for hope, what would I have??  I'm not going to let myself sit and sulk, get depressed and feel like there's no fighting chance for my daughter.  At times it's hard, especially for me.  I can let negativity get the best of me at times, and not just when it comes to CF.  However, in less than 4 years, the research that has been happening in the CF community is simply amazing - way beyond what I'd expect to hear at this point!  The title of an article I read this morning was: "Vertex's Cystic Fibrosis Therapy Is Called 'Game Changing'".  How can I not feel butterflies in my stomach reading that headline?!?  And if you've become a part of the Kaelyn's Kure family or you've learned what exactly CF is, it should hopefully bring a smile to your face as well!  I've talked about Vertex Pharmaceuticals before when I announced back in January that the FDA had finally approved the very first drug to target the root cause of cystic fibrosis.  Incredible news, but it could only help 4% of the CF population with a certain mutation.

Remember that cystic fibrosis has over 1600 different mutations that one can inherit from their parents (if their parents are carriers).  The most common mutation is known as Delta F508.  About 90% of those with CF have at least ONE copy of this mutation - Kaelyn has one copy of Delta F508 (her other is P5L).  The news I read yesterday and this morning is about the 2nd drug that Vertex is working on right now that's currently in Phase 2 of clinical trials.  This 2nd drug is being tested on those who have either one or two copies of the Delta F508 mutation and the results have once again been incredible!  Breathing ability significantly improved, lung function increased... all because Vertex has been able to create drugs that are MAKING SALT TRANSFER HAPPEN in the cells (remember, CF mutations alter or stop salt transfer which causes the thick mucus that clogs airways and breeds infections).  Because these drugs are correcting the salt transfer, the symptoms of cystic fibrosis are being halted!!  THIS IS.... HAPPENING!!  It's not a cure yet, it's not finalized, and there's still a lot of work to be done - but if that doesn't lift your spirit of hope then I'm not sure what kind of news will!

To read the latest CF news in more detail:  http://www.nytimes.com/2012/05/08/business/vertexs-cystic-fibrosis-therapy-is-called-game-changing.html?_r=1&partner=yahoofinance

love and support

This time of the year always has a special place in my heart... each spring is when the Great Strides walk rolls around, along with CF awareness month in May.  Even though this is only our 2nd year participating since Kaelyn's diagnosis at birth, it's really opened my eyes to a lot of wonderful things about the CF community.

If you follow along with Kaelyn's Kure on a regular basis, you probably notice the increase in posts around this time of the year...... and most of them are us reaching out again for your support - to walk with us, donate, and spread awareness.  Some may get tired of seeing the reminders, but this is the time of the year to put in my maximum effort so we can hopefully end CF one day.  This is Kaelyn's life that I'm working hard to make a difference in - not to mention the lives of all others with CF.  Every fact I write to spread awareness to those who may not know all we have learned, every time we speak at an event, every time we attend or host a fundraiser, and every year we walk as Kaelyn's Kure, I do it to make a difference....... no matter how big or small that difference may be.

To families like ours, what makes the biggest difference to us is the support we receive along the way.  Supporting Kaelyn's Kure extends in so many directions, some of which may have never crossed your mind.  I know for many, one of the first things that comes to mind when speaking in terms of support is making a donation.  In reality however, it might not always be possible.  So what else can you do to help?  When it comes to showing support there's plenty you can do, and most of these things are the most meaningful to families like ours......

• Walk with us.  It's a great way to be by our side on a day that's entirely dedicated to CF awareness.  Seeing all those faces who showed up to walk with us last year was simply amazing, especially the faces of some who I hadn't seen in quite some time.  Faces of those who I graduated high school/college with, faces of those who I've worked with, and the new faces of those who we just met after getting more involved with the CF community.  Walking is a great way to show your love and support!  
• Spread awareness.  This is one of the easiest ways to help, and to us, is the most heart-felt simply knowing how much people care.  Share our blog, our Facebook page, our CF documentary video, invite those who you know to the walk or to a fundraiser.  When we see family and friends sharing these things with others and spreading awareness with us, it really means a lot.  After all, "actions speak louder than words and to the families living with CF, it can some times be more helpful than dollars"!  :)    

Love and support mean the world to us...... And it's very touching to know just how much of that surrounds Kaelyn.

 
To walk with us, watch our CF documentary video, or make a small donation to our Great Strides team, please visit:   http://www.cff.org/Great_Strides/JulieWeber
The walk is just a little over a month away, so be sure to register online when you have a minute.  And if you walked last year, registration is simple because all your info will still be saved!

Sunday, May 20, 2012 - 10:00am at South Park, PA.  Hope to see you at the walk next month!!

"give a little love" - our first documentary

Last month Chad and I were asked if we'd be interested in sharing our story and filming a short documentary on CF to be used for awareness.  As Kaelyn's mom, I like to take advantage of each opportunity we have to raise awareness because it's so very important to us.

So many people in our lives are now aware of what CF is, but a lot of people don't see the other side of CF - which is what it takes to care for Kaelyn and keep her healthy.  It means a lot to us to be able to share our story with others......



If you'd like to support Kaelyn's Kure and the CF Foundation, please visit http://www.cff.org/Great_Strides/JulieWeber and click on "Click to Donate".  Remember, any amount you can donate helps to make a difference in someone's life.

Thank you to all the wonderful people in our lives who continue to support CF and our dream of finding a cure.  xoxoxo
Special thanks to Dan Burda for making this documentary - you're amazing!

what a feeling!

Yesterday marked a major milestone in the CF community as the FDA approved Kalydeco, the VERY FIRST DRUG to address the underlying cause of Cystic Fibrosis!!  This is a HUGE advance in the search for a cure for CF!  Although Kalydeco only benefits those who have the G551D mutation and are 6yrs or older (roughly 4% of the CF population), it represents true hope for the future of ALL who suffer from this disease.  Many doors have now been opened because of the science behind the drug, and a cure has never been closer in the history of Cystic Fibrosis!  Kalydeco dramatically improves lung function, lowers chloride levels and helps patients gain weight - all key problems in those with CF.

See the announcement:  http://www.cff.org/aboutCFFoundation/NewsEvents/2012NewsArchive/1-31-FDA-Approves-Kalydeco.cfm

A key point to remember with Cystic Fibrosis is that not all cases are the same and more than 1,000 mutations cause the disease to occur.  I'm sure you're thinking, "that's a lot of mutations", however those 1,000 mutations in the CF gene fall into six different categories or classes.  Understanding each of the six classes will hopefully allow researchers to develop treatments for each specific class.  Treatments that work for an individual will depend on his/her mutation.  This is exactly what the advancement with Kalydeco is doing - it targets the underlying cause of CF for the G551D mutation and restores health.  To get a full understanding of the CF mutation categories and classes, follow the link I have provided from the CF website:  Targeting Mutations that cause Cystic Fibrosis

It's amazing how much has changed in the CF world just since Kaelyn's diagnosis three and a half years ago!  To think back to my very first readings and research on CF when we got the phone call that she would need to be tested... reading "average life expectancy is 37 years" - the heartbreak we felt... to the feeling we felt yesterday reading the news of Kalydeco and the FDA's approval.  WHAT A FEELING!  A feeling of success and celebration in the CF community, and also a feeling of HOPE for the future... which one day I'd love to describe the feeling when I read, "We've found a CURE for Cystic Fibrosis!".  And we're getting close....

Thank you to all of you who have donated to, organized, or attended an event for the CF Foundation!  Your generosity and efforts prove that we can find a cure for CF!  A cure has never been closer, so please don't stop - continue to help and show your support... you're helping to save many precious lives!

Lastly, I wanted to share our 2011 Thank You Tribute video in honor of all those who helped and supported Kaelyn's Kure last year... our incredible success was because of each and every one of you!  Whether you walked, donated, came to any of the CF events, bought a t-shirt - THANK YOU!  Celebrate the success of this news as well, because your efforts are what made this milestone possible for the CF community.  You all have a special place in our hearts and especially in Kaelyn's.

Make a video - it's fun, easy and free!
www.onetruemedia.com

getting closer!!!

So many amazing news headlines and stories have been popping up this month in the CF community - and amazing might just be an understatement... more along the lines of life-changing for a small percentage of those with cystic fibrosis!  This is the news that anyone who battles this disease on a daily basis has been waiting to hear.  I decided to break down all the stories I've read over the past week to highlight some of the key information as drug makers get closer and closer to new treatments for CF that could stop the horrible impacts of the disease.

So many of you who know Kaelyn and our family have reached out earlier this year to help us raise funds for cystic fibrosis, and while you know in your mind that you did a wonderful thing, you might not know just how big of an impact your contribution really is.  Sure you could do what I did - read all the news/information about what's happening on your own.  However, it might not all make sense to you - so here I go..... I'm by no means a scientist, but let me try my best to break down what's happening so you can see what a difference your help has made.

First off, no 2 cases of CF are exactly the same.  Cystic fibrosis is progressive and the progression of this disease along with the severity of it's symptoms vary from person to person.  While it's true the average life expectancy is mid-30's and some live well beyond those years, we unfortunately are still losing lives entirely too young.  I'm talking about children who still aren't making it to elementary school, teenagers who don't get the chance to graduate high school, and the list goes on.  How is that fair?  Is living a life to the age of 35 a long enough life for you?  I'm going to safely assume probably not, so why should we settle for it be a long enough life for someone with CF?

I've seen the destruction CF can bring to families, through the eyes of the others in the CF community.  It's devastating what this disease has done to some of these families and to the young lives that fought the fight and unfortunately lost their battle.  These children so weak, so sick but at the same time so very strong & brave and they are now in the hands of God, as an angel watching over the rest of us like Kaelyn.  I know every time I blow out the candles on my birthday cake, I'm wishing for a cure for our little lovebug and I'm certain Chad wishes for the same thing every year too.  We've said prayers over and over again to watch over Kaelyn and keep her healthy through the years.  Well it looks like some of the wishing and prayers are being heard...

Just last week on October 20th an announcement was made by Vertex Pharmaceuticals that the drug Kalydeco (vx-770) is finally under review for approval by the FDA.  This will be the very first drug on the market that will target the underlying cause of cystic fibrosis.  Currently any treatments CF'ers receive to date only help to relieve symptoms.  While these treatments are effective and prolong life, the new drug should be able to add decades of life over a short period of time!  How amazing, right?!?  This phase of the drug however will only benefit those who are 6 years or older and who have at least one copy of the rare G551D mutation.  Only 4% of the CF population have this copy, but that's approximately 1,200 lives that could potentially be changed in a dramatic way! 

HUH?!??  I'm sure some of you are saying that to yourself right now.  As some of you might remember reading or hearing me say before, cystic fibrosis is a genetic disease which has thousands of known CF mutations - G551D is just one of them.  Kaelyn unfortunately doesn't fall into either of the 2 criteria for the drug - she's only 3 and does not have a copy of the G551D mutation.  Her genetic mutations are DeltaF508 and P5L.  DeltaF508 is the most common gene mutation of CF.  The good news is, right now clinical trials are taking place to evaluate Kalydeco in combination with another drug (vx-809) that would benefit those with a copy of DeltaF508 - And Kaelyn has a copy!  It is their hope that with time they will be able to benefit ALL people with CF and this is a major step in that direction!

It's sometimes hard for friends and family to grasp the enormity of cystic fibrosis.  Most of the time with Kaelyn, no one would even know she was affected.  Right now, we couldn't be more thankful for her health and her pretty much symptom-free 3 years of life she's lived so far.  We know in the back of our minds though that cystic fibrosis IS progressive.  What's unknown is the path and rate of that progression.  We need to stop that progression so kids like Kaelyn can live long, healthy lives!

If you want to be a part of curing a disease that will give futures to many little kids, please continue with us in our fight against CF.  As I said in the beginning, life-changing things are happening right now!  Keep your prayers coming, we're getting closer!!