The Start of My Kalydeco Journey

Guest post by Angie 

On January 31, 2012 the CF community received amazing news.  The FDA approved Kalydeco, the first drug to treat the root cause of CF.  However, Kalydeco is only effective for individuals that have the G551D mutation.  I, like many other DDF508’s, celebrated the wonderful news but was still holding out for the drug that would help the mutations that I had.  That’s right… I said had. 

About a month ago I took my 2 year old son to see a pediatric pulmonologist, because just like his Daddy, he has asthma.  The doctor and I discussed the fact that I had CF and my son’s newborn screen did not come back with any genetic markers for the disease.  He thought this was very strange knowing that my son would automatically be a carrier since I have the disease.  The doctor decided to add a CF mutation panel to the labs he was already ordering for my son. 

Fast forward to one week later and I received an email notification that my son’s test results were available.  I logged on to his EHR (gotta love technology) and saw the CF mutation panel.  I clicked on the result fully expecting to see DF508 since I had been genotyped as a DDF508.  Instead, I got the shock of my life when his test showed G551D.  What?!?!  The only logical conclusion I could come to was that I must have a G551D mutation.  But, that was impossible, right?  I had a cheek swab in the late nineties during an initiative sponsored by the CFF to get everyone’s genotype into the CF portal.  It was after 8pm on a Thursday night, so I couldn’t call any of our physicians.  So, where did I turn?  The CysticLife community.  I posted a rambling question asking if there could be any other logical explanation.  Of course I received lots of wonderful feedback from the CL community.  Everyone drew the same conclusion that I had.

I contacted my clinic the next day and they ordered a CF mutation panel for me.  I had my blood drawn and the waiting began.  I was still trying not to get my hopes up, but I think it was too late.  I received the phone call on a Thursday morning.  I had just sat down at my desk at work and my cell rang.  I recognized the number of my CF clinic.  I answered and the nurse said “I have some wonderful news.”  That was all I needed to hear.  I started blubbering.  I have the G551D mutation!!! I could not believe it.  I cannot even describe what it felt like to hear that news.  I can tell you it ranked right up there with the first moment I looked into the eyes of both my babies.  This news actually allowed me to picture holding my grandbabies.  I started the ball rolling that day to have Kalydeco delivered to my door and begin my new lease on life! 

Thank you for taking the time to read my story.  I can hardly believe it when I read it myself, but I am living it every day and it is wonderful!  I will be posting weekly updates about my progress with Kalydeco.  Please feel free to ask any questions or leave comments through this blog.  I look forward to sharing my journey with you!  

Angie's BIO:
I am a 36 year old married, working mother of two beautiful children. I was diagnosed with CF when I was 7 months old. When I was 6 years old my mom decided to become a respiratory therapist. I grew up with my own private RT!!  I was first hospitalized at age 8 and so began the annual hospitalizations. In my twenties I sometimes averaged two hospitalizations a year, but its pretty much just once a year now. I went through the usual rebellion from my late teens to early twenties. Luckily, I have been able to maintain stable lung functions for over 10 years. My FVC averages around 80-90% pred, and my FEV1 is usually around 63% pred.  

Note from Ronnie: I am so thrilled that Angie has agreed to give weekly updates of her progress on Kalydeco!! Her story is amazing, and I know I for one, am really looking forward to hearing about where this story leads. I can only hope that it's not only to improved lung function, but LIFE function as well!!

Pictures from Easter

Just got around to downloading some pics we took at the Easter festivities!!

Thankful Thursday: Kidzone & Clouds

It's thankful Thursday time! We all have so much to be thankful for and we love to take this opportunity just to write down each and everything that comes to mind. Please take this time to share with us what you're thankful for as well. If you have a blog expressing your thankfulness, please share the link! Without further ado, here's what we're thankful for:

Mandi's List:

I'm thankful for childcare at the gym. Ronnie and I are able to take Mckenna to the Kidzone and spend some time together pumping iron. I am so thankful that we can spend some time just the two of us, doing what we love to do together, while Mckenna plays happily with her "friends" at the gym.

I'm thankful for family close by. Monday night Ronnie, Mckenna and I popped by Josh and Chrissy's (my bro and sis-in-law) and then we all went for a walk, and Tuesday night Ronnie's bro, Andrew came by for dinner. I really love having family close by, so we can hang out a lot!!

I'm thankful for middle of the night snuggles. Mckenna is a ball of energy. She is always on the go. She rarely will just lay back and let you snuggle her. One of the only times she just lays, totally melted into my arms is during her middle of the night feeding. While getting up to feed her in the night may initially seem awful, the thought of weaning the last remaining night feed makes me really sad. I don't want to give up those snuggles just yet!

Ronnie's List:

I'm thankful for cloudy days...and I cannot believe that just came out of my mouth. So, I'm an Arizona guy born and raised, and so with that, I'm a total sun in the sky without a cloud in sight kind of a guy. But, when it starts to heat up so much, so early in the year, I'm actually thankful for the occasional cloudy day. Cloudy days not only give my garden a little break, but they also give Mandi, Mckenna and I the opportunity to take our walk at any time during the day!

I'm thankful moisture meters. I'm no green thumb. This is my third year gardening, and although I have learned quite a bit, I still have a LONG way to go. Something I read from other gardeners is that they "know their plants". Like I said, I don't think I've been in the game for a long enough time to get the vibe from my plants yet. I mean yeah, I can tell if they're severely under-watered, but I think pretty much anybody walking the streets could too. That's where my handy-dandy moisture meter comes in. I simply stick in it the ground by the root of the plant, and it tells me whether or not I need to be watering. Anything that takes some thought out of gardening is good in my book!!

I'm thankful for daytime workouts. Because of great childcare offered at our gym, Mandi and I have been able to take a break from our workday the last couple of days and hit up the gym. I love working out with my wife and I love getting my workout done and over with. Day workouts are definitely a win all-around in the Sharpe household!!

So, what are you thankful for today?

Kalydeco - Can it benefit others??

A couple weeks back, I was able to listen to Dr. Beall (President of the CFF) present about all of the progress that has been made over the years with specific focus on the new drug, Kalydeco. As most of us know, Kalydeco was approved a few months back for those among us who are rocking the G551D mutation (about 4% of the population). He's a good speaker and I can see how he has spear-headed the fundraising machine known as the CFF. He's passionate, charismatic, engaging and of course, informative.

He gave a very good illustration of what Kalydeco does for the peeps it helps, and why it doesn't work for others. Basically, he had all of us in the room (the cell) pretend we were sodium and chloride and the door to the room represented the protein which opens and closes to allow a natural exchange of different properties from within the cell to the lining of the airways. Those with the G551D mutation have a door that is stuck shut and Kalydeco has shown that it is able to open that door.

I have heard all of this before, but what I haven't heard was what came out of his mouth next. To paraphrase, he said that although Kalydeco is only for about 4% of the population now, they hope that it eventually it will be effective on between 16 and 20 percent of the population. So how could this be? Well that's because G551D is a gating mutation, or "stuck door" mutation, and there are other gating mutations out there. If a CFer's protein is on the correct place on the cell surface and the only issue that the door is stuck, then Kalydeco may work for them. (For those who are wondering - DF508 not only causes a stuck door, but the door isn't even located where it should be, on the surface of the cell). They are currently running further tests to see just how many others may benefit from this new drug.

Which leads me to my last and final point, Dr. Beall wasn't just blowing smoke. In fact, I exchanged an email with a momma in the community whose daughter is currently taking Kalydeco and does not have the G551D mutation. So is it helping her? It seems so! Her FEV1 is up 11% which is her highest in three years, and her sweat test came back almost 30 points lower. I don't know about you, but that excites me to no end. Not only of course for this young gal (who happens to be one of my favorites), but also for others who may benefit from Kalydeco.

I know it's not available to everyone who may benefit, and that sucks, but just know that they are working their butt of to see who will be able to benefit from the drug. In the mean time, do everything you can do each and every day to put yourself in the best position for the day that your "wonder drug" comes out.

True CF Awareness

I was sitting down to write my own post, and just before I clicked on the little pencil to write something, another post caught my eye in my blog roll. It happens to be one of my favorite Life Blogs written by Lauren, a kick butt cyster who I have never heard offer up an excuse. If some of you mommas out there are looking for a college-aged girl to motivate your daughter, this would be the girl to do it. She's funny, smart, athletic and just an all-around great gal! She has a "take the bull by the horns" attitude that I love, and I find myself agreeing with many of her thoughts. What's nice, is she puts her thoughts out there much more eloquently than I and I'm sure offends much less people than I do :)

Please take the time to read this post, you'll be glad you did. When you're done, visit Lauren and read all of her other great stuff at I Have CF...So What?!?!

This image has been traveling around Facebook today and it sort of took me back a little bit. This blog is not meant to offend anyone, it is just my thoughts. Though I love the CF Foundation, and though I understand that it's trying to tug at people's heartstrings in order to get them to donate... I couldn't help but think that for me, and for many CFers I know... this isn't the truth. Sure, there are many many CFers who feel like they are breathing through a straw every day, who are on oxygen, and who are awaiting a lung transplant. However, there are also many CFers who are breathing easy with CF and who haven't reached a point where it takes their breath. It is unfair to portray all people with CF as breathing through a straw, because the fact is, it is possible to breathe with CF. Sure, some days I've experienced what it feels like to not be able to breathe, to cough until I'm red in the face, etc. However, if the public thinks that this is what CF is like every day, they will be strongly mistaken. There can be healthy days. No wonder why so many parents are so confused and afraid when their child is diagnosed, because sadly, there are ads like these that make it seem that this is the reality of all CFers at all ages and at all stages of their lives. 

Every time I tell someone (who has some idea about what the illness is) that I have CF I get a familiar response. I can see the look on their face, trying to figure out how I, someone who looks relatively healthy except for the cough, has this horrible disease, like maybe I'm lying. I sometimes feel like I should to show them my PICC line scars, show them the insides of my infected lungs, take them to the doctor with me to prove its true, because most people don't understand the complexity of CF. I've had people tell me that they had friends who have died from the disease, friends who are always in the hospital, and that they thought that it was an early killer. I'm not saying that any of these instances are false or rare. CF can kill you, it can make you extremely sick.... but you can also live with CF. Because of the way CF is portrayed in order to get people to donate, some people are lead in the wrong direction. We don't see the healthy people in this ad. Why doesn't it say... "Because of all of the donations that lead to the research and new drugs the CFF has helped to bring to fruition, some people with CF DON'T breathe through a straw. Thank you." 

I also don't like that this ad tries to bring pity to the CF population. It's black background and choppy lines connote darkness. "You can stop when you've had enough. But people with cystic fibrosis can't. It's how they live every day..." What do you think when you read that line? "Oh my goooooodnesss, their lives are so horrible and difficult." And yeah... sometimes it is. But do we really need people to feel bad for us because of it? If there is anything I hate it is pity. Don't see me as someone suffering, see me as strong for getting through it with a smile on my face. Yes, I live with CF every day, and yes I am frustrated that I can't make it go away.... but don't cry for me, because I'm not crying for me. I'm doing what I can to survive, and I'm learning so much in the mean time from my hardships. 

It is important to recognize the complexity of CF.  That while there are people who are struggling to survive, who's lives are taken by CF... there are also those people who live with the illness, who's days are numbered but who have both sick days AND healthy days. The CF Foundation has created so much opportunity for people with CF, and they continue to do so. However don't be fooled by certain marketing techniques. This ad is good in that it tries to get people to understand what its like to live with CF at its worst stages... showing that there needs to be medication out there to prevent CFers from getting to that point. But at the same time, it is time that awareness comes to the forefront. Not just awareness about the bad parts of CF, but awareness of the great developments have been made, the healthy lives that have been created, and the true nature of the complexity of this chronic illness. So that new parents are no longer afraid that there child will be breathing through a straw their whole lives, so that someone that is new to CF might not see me as lying on my death bed, so that we can take even larger steps toward a cure without having to evoke pity in our donators.

Thank you so much for that post Lauren. I know that myself, and many other in the CF community, feel the exact same way.

3 Day Daddy Duty

As some of you may have seen, Ronnie was on daddy duty while I was away for work Wednesday through Friday. Needless to say, I was really nervous about leaving for the first time overnight, and not only for one night, but for 2 nights and 3 days. I totally trust Ronnie's ability to take care of her, so luckily that was never a concern. But she's been exclusively breastfed, with only the occasional bottle, I'm the one to put her down at night, I'm the one who spends the most time with her during the day, etc etc etc. So the thought of totally throwing things off kilter for 3 days made me nervous. I didn't know how SHE was going to do.

After day number one, it was clear that she was A-OK without momma. She ate like a champ, she slept like a champ and was smiley and happy as a clam. Daddy was a rockstar. He did just as awesome as I thought he would...sending all sorts of fun photos along the way. And she did better than I could have ever imagined. She even started saying "da da da da da"...about 2 hours after daddy took over. Really Mckenna?!? 2 hours just you two and you're saying "da da da"? Where's "ma ma ma" after 6 months, kiddo? Hehe.

I was so happy that they were getting along great. But a little part of me was sad. Yes, silly, I know. I know it's so silly that I actually considered NOT including that in my blog. Buuuut I won't start lying now! I was a little bummed. How did she not notice I was gone AT ALL? How was she eating and sleeping just fine and happy as a clam? It was a tough pill to swallow for this overly involved momma. Then I began to worry. Would she be different when I got back? Would she not take my breast when I got back and instead want to stick with the bottle?! I was nervous for when I got back.

When I arrived at the Phoenix airport, to Ronnie and Mckenna waiting for me, I gave Ronnie a hug, and bolted to the backseat, where Mckenna was balling (it was past her bedtime and she was NOT happy about being in the car instead of her crib). It wasn't exactly the welcome home I envisioned. She continued to ball. I got no big smile. Nothing. However, as she sat balling, I put my face next to hers, and she reached up, held my face, and got quiet. She still cried off and on (she was reallllly worked up!) but she held my face and nestled close the whole drive home as she dozed off to dreamland. When we got home, I took her to her room, she snuggled close to eat and then I tucked her in bed. I was feeling ok about the homecoming. She seemed to still love me, ate, luckily from the boob, but I wasn't so sure she really cared or noticed I was gone (tear!). Then, the next morning, when I went to get her out of her bed, she showed me she knew. She was happy, happy, happy when I walked into her room and then when I picked her up she planted a HUGE, wet kiss on my cheek. She never gives kisses! But that was a KISS! Ahhh, she needed and missed her momma. She confirmed that for me with one single kiss. I ate it up!

I don't plan on leaving her any time soon, but I am thrilled we both made it through. Next time I won't be so worried about how she'll do, how I'll do, and how it will be when I get home. Man, we're both growing up right before your very eyes ;-)