Sunday, February 16, 2014

Random Update......Kalydeco, CF Meds, Valentine's Day & More

I have done it again, MIA from blogger.  A friend of mine who doesn’t really use Facebook but does read my blog said I have been way behind in blogging.  After looking at my last post it was dated 1/23/14.  It has been just about a month since I last put all my thoughts into words.  In all reality I have been gone from here not because I have nothing to say because trust me I have plenty to say and share with everyone (those that are my friends on Facebook would probably agree).  I have been SO BUSY living life!

Before I start talking about me which I know I do a lot of I want to give an update on my girls.  Here is an update on Alayna and Maria.  I didn’t get the chance to do a monthly update on Alayna for her 15 months.  In fact, tomorrow will be 16 months!!! Where does the time go…………She is growing up faster than any of us would have ever imagined.  Alayna is developing into her own little person as we speak.  She is saying a few words.  As for expressions she definitely can tell us when she is NOT happy.  But most of all she is a big time mommy and daddy’s girl.  She loves us both! One of my favorite aspects of being a dad is when I come home from work even if my day is terrible she can put a smile on my face as soon as I get in the door.  I think her favorite words is Hi! She will say Hi and give me a big kiss.  I will save the rest of the updates until I make her official 16 month post. 
Now for an update on my lovely wife!!  Maria is my rock and she keeps not just me going but this entire family on track. I also do not know how she puts up with me day in and day out.  One of these days I will write about how I am so far from a perfect person. Or wait maybe I should have her write that post!!
 If it wasn’t for Maria I would have a lot more difficult time doing basically EVERYTHING!  I just want to thank you for helping me with the neb sanitization and every other thing you do to keep me and this family on track! It’s just another part of our day, CF ;)  LOVE YOU
When you have a baby it’s a life changing event and even till this day we are still getting use to our new lifestyle.  I can tell you having a child flips your life around 180 degrees.  What makes it easier is having a fantastic wife who understands about your health and can basically change anything on the fly such as adapting to every day changes that occur.  

We did celebrate Valentine ’s Day over the weekend.  It was just Maria and I at lunch and then we went to few stores.  Those are the things you look forward to on Valentine ’s Day when you live a crazy life like this.  I guess I should say our life isn’t crazy it’s just NOT enough hours in a single day to get anything done.  I will also say for those of you who have toddlers or who recently had a child it’s good to take your spouse out.  It pays dividends in keeping you both sane!

Ok on to the boring John stuff……I don’t know where to start so I guess I will start what took place after my doctor appointment.  I mentioned how my clinic was going to look into getting Kalydeco for me.  I sent emails to my  doctor and my research coordinator to show them why I believed Kalydeco would work for me.  Apparently, I thought we were going to see if we could fight for off label use but in reality the research coordinator was checking to see if I would qualify for a clinical trial at my clinic.  She sent my gene mutations to Vertex and they said NO dice.  Oh well I am use to climbing a mountain for the things that are valuable to me.  It just kind of really SUCKS that I know and a few others know in this community know that Kalydeco will work for my gene combination.   
My culture results did come back with the usual suspects that I culture.  I have the love staph growing NOT MRSA and the lovely achromobacter xylosoxidans.  Since my PFT wasn’t in my baseline range I pushed for antibiotics. I have not been on a single antibiotic in over a year.  I know it’s fantastic and hoping I start another streak here of not needing an antibiotic for a while.  We usually do not treat me unless I have more symptoms or have complaints.  Well I guess my complaint is my PFT is lower.   I have now been on Doxycycline for my staph and inhaled meropenem for my achromobacter.  Meropenem is usually done via IV but my dr. believes we can avoid IV’s if we can inhale some meds.

I had a really good experience the first time I ever inhaled meropenem before as it killed my pseudo a year ago.  After that 30 day stint of inhaling this med I have not cultured pseudo in a year.  So I am all for inhaled mero and all for avoiding IV’s.  The only thing is I recalled from last go around at this mero made me feel like complete CRAP the first few days.  I honestly felt like I had influenza and this time around it was no different.  I know mero is a nasty drug so I think my body just had to get use to it the poison that is.  This time around it lasted for about 2 days.  I was a trooper and went to work feeling awful but it was tough. 
How could I forget this in between my dr. visit and starting these drugs I completed a major milestone.  I have been compliant for 365 days on 2/1/2014!  I am still compliant even with adding another 30 minutes of neb time with this meropenem. Eventually, I will make an entire blog post about compliance and what it means to me.  But until then this will do.  Why did I change all this compliance stuff in my life when in all reality I was basically very compliant?  It all boils down to one thing and that is why couldn’t I be 100% compliant.  Before this I was about 97-98% compliant with all my treatment which is still fantastic but for me it’s a no excuse attitude when it comes to treatment time in this household.  What really changed me was when Alayna was born.  It took me a few months to get this mindset that 97-98% wasn’t going to cut it.  If I want to put my best foot forward every day that starts with me and my health.  One thing that NO one can ever take from me or anyone is my dedication to my compliance.  I will never ever have to hear John well you weren’t compliant enough and that is why you are sick.  For me my eye is on the future.  I have big plans in my life to be here on this planet as long as I can to see Alayna go to school for the first time, to witness her get her driver’s license (it’s less than 15 years away YIKES!!), watch her graduate high school, go on to college or whatever it is that she chooses to do after high school, walk her down the wedding aisle, be the grandfather to her children one day, and last but not least be there right along Maria’s side to witness all of these milestones.  As you can see I am driven to see these days and if I do not put myself in the best position to do that I may only have myself to blame.  I will end this compliance paragraph with a quote from my CF mentor Anne ( I LOVE you to death Anne) “Treatments are like money in the bank! Put the time in today and it will pay you back ten fold in the future!” I think that is how the quote goes.  Correct me if I am wrong Anne.

As I love to talk about Kalydeco here is another update on that magic pill.  There is a clinical trial that I may be able to get into to try Kalydeco for 2 weeks (6 week study on the west coast and you are responsible for all travel there is no reimbursement).  Yes, I know 2 weeks that is really not enough time to see if this magical pill works as I have friends who basically were sick with cold like symptoms for up to a month after starting this.  I guess the bigger question is do I even qualify for this study.  The inclusion criteria are not to clear.  But I do fit based on my one gene mutation 3849 as it’s a residual functioning mutation. It states the trial would like a minimum sweat chloride level of 55. For me I do not fit that description.
If you have ever read my CF diagnosis you will remember that I passed sweat tests.  I wasn’t diagnosed with CF until they did the cheek swab and sent my DNA off to a lab where I was found to have DF508 and 3849 + 10 Kb C->t.  The 3849 gene is known to produce normal sweat tests and I fit that description to a T.   I called my CF clinic and also my genetic counselor.  I had two tests done within a year from each other back in 1995 and 1996.  The tests produced numbers of 31 and 28 respectively.  A sweat level below 40 is a normal sweat level. Sweat tests should NOT change through the years as your DNA is basically responsible for this sweat level!

 So why do I have cystic fibrosis???  Based on the sweat chloride I have I shouldn’t have this disease but I know for sure that I have CF.  Not to mention as a newborn a few months old I was tested for CF and again I PASSED my sweat test. My lungs and health have suffered from being diagnosed later in life. Sometimes I do wonder what my lung health would be if I had earlier diagnosis.  I’m thankful we now have newborn screening for CF. Sweat testing is the golden test for CF but in my book it’s basically not a true valid way to tell anyone they have CF.  If even one child slips through the cracks of not being identified with CF its WAY TO MANY! In fact I have some very good friends who have a child in my same boat passing sweats but the child has CF!! I will expand on this topic in a later post.   
Back to the Kalydeco study………Since I have low sweat chloride numbersthat means I have working CFTR at the cell surface at least in my sweat glands.  This should mean that there should be some good working CFTR in my lungs as well.   Kalydeco will help with the working CFTR at the cell surface! That is why I NEED Kalydeco to prevent further declines!  There is a lot for me to think about with this study as it will require lots of money for traveling but also will I even see a benefit in two weeks? If I try to submit these results to the insurance to get Kalydeco off label I know they will throw at me that you were only on this pill for 2 weeks so why should we cover a pill that costs $300,000 a year!!! Ughh decisions decisions.

Thanks for reading and the next post will be about Alayna’s 16 months. I PROMISE I will get that post up this coming week Alayna. Daddy is slacking!


  1. Hi John!

    Looks like we have a lot in common. I'm a 33 year old Cfer with a 2 year old daughter. I also have a residual function mutation and honestly lose sleep at night, wondering how I can get my hands on Kalydeco. Like you said, it really SUCKS to know that Kalydeco will almost certainly work for us, but we can't get our hands on it!!

    I went out to Denver to be screened for the residual function study, but didn't get in. :( I've also tried to persuade my doc to prescribe it off-label, providing him with a stack of documentation showing that it's highly likely that it works for my mutation. I also found that my mutation is specifically listed in the patent. None of this was enough, unfortunately.

    I haven't heard anything about the study on the west coast you mentioned. However, I know I wouldn't get in, as my sweats in Denver were 88 on one arm and 90 on the other. Blah. I really hope you are able to get in, and can financially swing the travel! That would be awesome. It would be still be an uphill battle with your insurance, no doubt, but if you showed improvement in/after those 2 weeks it certainly couldn't hurt!

    Best of luck you!!

    Autumn 33 (user name triples15 at

    1. Hi Autumn! So nice to meet you and thanks for stopping by. Seems like you are right we have a lot in common. WE ARE CF SUPERHEROES! What are your mutations? Your mutation is listed in the Kalydeco patent? How in the world did you find that?

      I am going to find you on I want to share the study with you as you will most likely get in the study.

      Best of luck to you Autumn!

  2. This is your year for Kalydeco! I hope you and the above gal get on Kalydeco soon as possible! It will happen!!!! And it will help ;)

    In the meantime, keep kicking butt with your compliance! Yes, treatments are money in the bank! Keep up the good work! I hope you're feeling back to baseline :)

    It may be of value to know how OH screens newborns for CF. The blood is tested for an elevated enzyme level. In our family of three CF'ers, that wouldn't have found our CF. As you and many people with CF have learned, sweat tests can also be too low to indicate CF. If CF is suspected, Genetic Testing should be done.
    Cuz, Anne

    1. Thanks Anne!! I LOVE your quote "Treatments are money in the bank!" I am feeling really good. My energy level has returned. I guess we will see once I head to clinic next month what the old FEV1 numbers are :)

  3. Hey John!!

    Me again. ;) I misread the info about the sweat chloride needing to be a MINIMUM of 55. I was thinking it needed to be below 55, since the other trial I tried to get into you had to be below 80. So sorry, my previous post about not being able to get into this study based on my sweats being too high made no sense!

    I finally sent you a response over on Thanks so much for getting in touch with me.


    PS. Thanks Anne, I REALLY hope this is our year for Kalydeco!! :) The study coordinator in Denver sure seemed to think so!

  4. Hi John! My name is Chancey. We seem to have a couple things in common. I am a 31 y/o CFer (diagnosed at 17 with a borderline sweat test) with a 15 month old daughter and I too have the same mutation as you. I am so happy that you are doing so well health wise. I feel like I should be in the same boat, unfortunately due to some poor career choices (respiratory therapist) and periodic non-compliance during college years, I am currently hovering between 25-30% FEV1. I am desperately trying to ward off transplant until I can try Kalydeco or the other vertex drugs in trials. I will be starting the transplant evaluation process in a week with hopes that they deem me too healthy to be actively listed. I need to keep these wind bags for as long as I can for my daughter's future :) I would hate to miss the boat on the potential benefits of these drugs by a year or two (if I had to be transplanted).

    I was curious to see if you had followed through on that trial for two weeks. Or if you have any additional information on the likelihood of Kalydeco possibly working a little bit for our mutation. If so, do you have any suggestions on how to get it off label?

    I want to thank you for putting your story out there and inspiring others. I really enjoy reading others experiences with CF and parenthood.

    Thank you!

    1. Hi Chancey!!

      So you have 3849 mutation?

      I am trying to to contact you on Facebook! We need to talk because there are options for you to get Kalydeco off label and compassionate use from Vertex. Once you go below 40 FEV1 you are able to try Kalydeco. I hope I can reach you.

      My profile picture is of Alayna :)