A New Brand of Cystic Fibrosis

We had an appt. with Brady’s CF Dr. this morning.  It has been 2 whole months since he began Kalydeco (took first dose Feb. 10^th).  Before I get to all the juicy details of our visit, I just want to mention how much different I feel about going to clinic now, vs. pre-Kalydeco.  Most CF parents can probably relate to the idea that clinic can be a scary place.  Besides the risk of cross-infection from other patients, for me--there was always the fear of what I might learn about the progression of his disease.  Is the throat culture going to show a new bug causing problems?  What new meds will we be adding this time?  Is a hospital visit in our near future?  The list of potential CF complications is seemingly endless.  I’ve always had a lot of anxiety and fear surrounding clinic visits, but everything feels different now.  Before, I would spend the week before clinic pacing the floor, not getting much sleep, and trying to manage my fear.  I’m not going to lie…I’m still not getting any sleep, but it isn’t because of the fear and worry.  It is because I’m so freaking excited.  It is because I CAN’T WAIT to see the clinic team and discuss all the positive changes we have seen in Brady’s health.  It is because the game has changed, and I don’t know all the new rules yet, and my mind has just been racing with possibilities for the future. 

Clinic Visit: Day 62 of Kaydeco for my 4 1/2 yr. old with G551D and DF508

Weight: 48 lbs.  His weight was the same today as it was 1 month ago.  We feel totally fine with that because he is still close to the 90^th percentile weigh-for-age.  Also, we have been adjusting his diet (not covering everything he eats in butter, ½ n ½ etc...).  I’m sure that his intake of fruits and veggies has gone up, while intake of pure delicious fat has gone down.  We will continue to work with the dietician to figure out how to manage his caloric needs moving forward.

Pancreatic Function: One of the things we discussed with both the Dr. and Dietician is the potential enzyme dosage adjustments that might be needed with the addition of Kalydeco.  We very slightly reduced his Zenpep dosage after he first began Kalydeco, but have been holding steady with 2 pills with snacks, and 3 with big meals since then.  Of course, those familiar with CF know that the poo is the window to digestive function.  Brady’s bowel movements have definitely changed since he began Kalydeco—reduced to once per day, less stinky, more formed, and always sink to bottom of toilet.  I think patients and Docs have both been pleasantly surprised with the increase in digestive function that Kalydeco seems to provide.  No one knows for sure, but there are a few theories about why Kalydeco is associated with weight gain in CF patients:

1)      For individuals with significant lung damage, breathing becomes a strenuous activity that burns a lot of calories.  For patients who see a big increase in lung function with Kalydeco, weight gain might be linked to the decreased caloric demands of less labored breathing. 

2)      Kalydeco decreases abnormal mucus production in all epithelial cells.  Decreased digestive/intestinal mucus might allow more effective absorption of nutrients and calories (ever change a snotty CF diaper?—mucus can cause problems in the guts, just as it does in the lungs).

3)      Pancreatic function might be improved with Kalydeco.  The Dr. was really curious about what is going on, if anything, with Brady’s actual pancreatic function--the ability to release digestive enzymes into the small intestine where they breakdown nutrients for absorption.  He explained that most people view pancreatic sufficiency as a black or white issue, when it really isn’t that simple.  Pancreatic damage likely occurs in a similar manner to CF lung damage in the respect that it might start out as mucus plugging and inflammation before it reaches the point of full blown dysfunctional scar tissue and completely blocked enzyme ducts.  The Dr. believes that pancreatic function is more accurately described on a continuum of function (for example, some patients might have partial function, but still need enzymes to keep stomache aches away.  Others might have enough function to digest without enzymes and don’t take them at all, but might still potentially benefit from a very small dose of Zenpep etc...)  There isn’t a clear line between pancreatic sufficiency and pancreatic insufficiency.  If this is the case, patients who are somewhere in the middle of that continuum might be able to clear out some of the mucus plugging and actually experience an increase in the amount of digestive enzymes their bodies can naturally release—thereby reducing their need for enzyme supplements like Zenpep. 

Again, these are all theories and individual patients will respond to Kalydeco in their own way anyhow.  Patients in the end stages of disease might see more of a weight bump from the increase in their lung function, while very young patients might see a weight increase linked to improved pancreatic function.  I know that I’ve read several accounts of individuals stopping enzymes all together after beginning Kalydeco.  I don’t see that happening for Brady.  His malabsorption issues began when he was 2 weeks old (even breast milk was running right through him), and he certainly has some permanent pancreatic damage at this point.  Still, there have been a couple times that I’ve become concerned that we might be OVERDOSING him a bit with enzymes now because he seems a little constipated and has complained a few times that his tummy hurts.  With the help of his dietician, our plan to figure out the correct enzyme dosage for Brady is to gradually and systematically reduce his dosage, while monitoring his stools and weight.  We are going to start by decreasing Zenpep from his normal dose of 3pills/ meal, down to 2.5 and from 2/snack down to 1.5.  We will do this dose for 7-10 days, monitor the poo, and then do another small decrease if he is still absorbing well. 

Chest CT Scan

At our March 8^th clinic visit, we discussed the need for a more detailed “roadmap” to guide us in moving forward with Brady’s care, so we decided to perform a low-dose chest CT scan.  CT scan is the most sensitive and detailed technology we have right now to measure structural lung disease.  Previously, Brady had undergone annual chest X-rays that had all presented “normal.”  He did a great job the day of the scan and even got to push all the buttons on this huge cool machine!  Brady’s nurse called us earlier this week with the results.  The Dr. and their favorite pediatric radiologist had both reviewed the results and agreed that there was absolutely NO VISIBLE DAMAGE.  His lungs look awesome!  Imagine me saying that last part with mascara streaked tears streaming down my ugly “cry face.”  Writing about it just doesn’t do justice to what an emotional basket case I’ve been for the last 2 months.   I’ve been dreaming about this possibility since I first heard of VX-770…and now it has happened.  My dream has come true.  His lungs are currently healthy and he has Kalydeco working like magic in his body to keep them that way.   Discussing the awesomeness of the CT scan with the Dr. led us right into our next topic—what do we do now?  How do we move forward with treatments and airway clearance for my little CFer, who has picture perfect lungs and suddenly functional CFTR?  Will he eventually be able to "control" CF by simply popping a magic blue pill twice a day?

Breathing Treatments and VEST

This is the conversation that gets my heart beating so loud that I can barely think over the noise.  My hands are sweating like mad just typing about it!  To recap, we requested to start Brady on Pulmozyme at age 6 mo. in the absence of symptoms in an attempt to prevent lung issues.  We requested and began HyperSal at 20 mo. for the same reason--still with no lung symptoms at all.  In the 4 ½ years that we have been doing these treatments, we have NEVER missed a single dose of ANY treatment.  I realize that I am nuts about it.  I don’t care what the circumstances are, treatments are non-negotiable.  One time, I thought I had forgotten to pack the Pulmozyme in the cooler for a weekend at my parents place…I think I had a small panic attack and was getting ready to drive 3 ½ hours back home to get it before Brock found it.  I mention this because the idea of reducing or removing any of his breathing treatments or VEST scares the crap out of me.  I hope no one assumes we are in any kind of hurry to see treatments go away, because in reality, I have an irrationally bonkers attitude about it!

We just want to do the right thing, so we hashed out all our questions and concerns with Brady's Doctor.  One of the things I love most about his CF specialist is that when he doesn’t know the answer, he will say so.  EVERYONE is clueless as to the most appropriate way to proceed with a case like Brady.  Before we even got involved with our discussion, the Dr. stepped out of the room to email some colleagues quickly, to get their opinion about what to do with this new brand of CF patient like Brady.  In his words, “Brady is a pioneer.  He is the ideal candidate for this.”  This is all new territory.  Dr. M has a very collaborative attitude…I like it.  Another thing I love about Brady’s Doc is that he always asks for our input and we decide TOGETHER how to best care for Brady.  We concluded that our next small step should be to further reduce his HyperSal treatments.  This sounds strange, but it seems to me like the Hypersal treatment has become more irritating for Brady now than it was before he started Kalydeco.   Pre-Kalydeco, he would sometimes cough once or twice during Hypersal, but often not at all.  He has always breezed right through it like no big deal.  He still isn’t coughing, but he is complaining of a sore throat afterward occasionally now.  He is just acting like it is bugging him a little, which he never did before.  HyperSal is used to temporarily restore some surface chloride, which in turn, increases the “airway surface liquid” (ASL) on the lining of the lungs.  This ASL allows those little cilia to beat--to move and clear particles.   I don’t think there is any doubt that this treatment is effective, but can be a little rough to take.  If Kalydeco is working like it is supposed to, his ASL is likely in very close to "normal" condition with Kalydeco alone.  We decided that if a treatment was to be eventually be eliminated all together--HyperSal would go before Pulmozyme because it works with a totally different mechanism of action in the lungs.  We think Brady might still receive more potential benefit from sticking with this drug for a longer time.  Pulmozyme works by chopping up the long strands of extracellular DNA that bind mucus together in CF lungs.  http://www.pulmozyme.com/how-pz-works.jsp

Baseline Feb. 10th: Brady used to do HyperSal (7%) twice a day. 

March 8^th: Last month, we dropped it down to HyperSal once a day. 

Today, April 12th:  We decided to move down to Hypersal 3X/week.  This doesn’t sound like much…but what it means to us is that tomorrow morning, for the first time in over 4 years, we are going to wake up and NOT DO ANY NEBULIZER TREATMENTS!!  He normally does albuterol to prep for HyperSal, so during the actual appt., I had it in my head that we would be stopping the HyperSal some days, but still continue doing albuterol.  On the ride home from clinic, it hit me that the Dr. may have actually meant no nebs at all those mornings so I called the clinic back and talked to his nurse.  She said “no need for the albuterol either” that it was just to prep him for the HyperSal.   I had her repeat it to me one more time just to be crystal clear and convince myself I was hearing correctly—no nebs at all in the morning on the 4 days he skips the HyperSal.   “You might need to find some new hobbies,” his Dr. told us.  We are going to do this for a month and see how it goes.  If all is well then…

The next step will be to decrease the VEST from 20 min. twice a day, down to 15 min. twice a day.  Baby steps.  We will re-evaluate again when we see the Dr. in 2 months.  My mind is so blown right now.  I swear I have been watching this happen in my head for years.  I have been visualizing this exact miracle that is playing out in front of me—intervene before irreversible damage has been done and give him an honest-to-goodness second chance at a long healthy life.  It is like I am watching a super awesome Lifetime Original movie starring MY FAMILY—a real tearjerker, but with a fantastic conclusion.  I’d like to say that having Kalydeco has calmed me down a bit, but on the contrary, I remain firmly perched on the edge of my seat.  Every change is so exciting.  Every test result has been so fantastic.  I’m just amazed time and time again. 

Other Oral Meds: Holding steady with current schedule

Sinuses: Still totally clear with no steroid rinses or oral prednisone!  The polyp growth seems to be a thing of the past! Amazing!!  No snoring or mouth breathing, and he is making lots of comments about smells. 

I feel so unnaturally lucky that I’ve begun having really irrational fears about other parts of my life.  Everything is so perfect, something has to give.  Is Brock going to get into a car accident??  Do I have cancer??  Where is the cat?? Kitty!!  You get the picture.  I’ve never denied that I am slightly off-balance, and it just doesn’t compute how or why this is happening to us.  I mean, treatments are one of the ways CF parents “take care” of their kids.  We wake up every day swinging because every day with CF is a fight…but what do you do when your enemy stops swinging back??  How long and how hard do we keep swinging when CF has retreated back to its corner of the ring?  The transition is hard.  Knowing the right thing to do is impossible and is driving me crazy.  But, as Brady’s Dr. said, “this is a great problem to have.” I am trying hard to live in the present and stay out of the swirling thoughts in my head (not very successfully, but I’m trying).  Kalydeco may have changed the way CF is affecting Brady’s body, but it hasn’t changed the fact that CF messes constantly with my mind!!  Brady honestly couldn’t care less about treatments because he gets to watch Puss in Boots and I massage his legs.  I have so much fear about backing down from treatments because it has always represented the path to health.  BUT KALYDECO IS A GAMECHANGER, and I also want to take full advantage of the opportunities that lie before us.  Spending all those hours sucking in meds and getting shaken silly might actually be totaI overkill for someone with perfectly healthy lungs and functional CFTR.  I don’t want to sentence my lovely son, who has already been through so much, to unnecessary treatment time because of my fears.  I will be calling into the clinic in a couple weeks to inquire about the responses the Dr. is getting from his colleagues in regard to Brady’s case. 

Lastly, I want to just “radio in” a message to my CF families still waiting on that rooftop, with the floodwaters rising around you, wondering if you will be rescued in time.  .  http://bennettgamel.blogspot.com/2012/01/will-helicopters-return-in-time-for-us.html I often imagine how painful it has to be watching another child receive a treatment like this while your own precious babies continue to fight CF.  My message to everyone still waiting is this: “WE HEAR YOU!  We will never forget where you are and we are working to get back to you as fast as we can!  DO NOT EVEN THINK ABOUT GIVING UP, WE ARE ALMOST THERE!”  Roger.