The Light at the End of the Tunnel

It is time for an update. 

We have been super busy since returning home from Spain, but I know everyone is curious to know how Brady is doing after a year of treatment with Kalydeco, so here it goes.  He had CF clinic on Feb. 28^th.  Brady practiced PFT’s at this visit, but is still struggling with his technique (he is only 5, after all), so his numbers weren’t really meaningful.  His lungs sounded great though, and he has absolutely zero baseline cough.  Brady hasn’t gained a ton of weight, like many patients do on Kalydeco, but I am not worried.  He is extremely tall for his age, and has a slim build like my husband.  His energy level on Kalydeco is absolutely through the roof—I mean, he is like a different child (a child on crack cocaine!!).  We decided that we will perform another sweat test, mostly out of curiosity (his last sweat test was 17 mmol/L!  Amazing!).  The lab has been really booked up, but we hope to get in this week or next for the test, and I should have those results to report in my next entry. 

The big question on everyone’s mind is still—“What do we do now?”  Does he still need breathing treatments and airway clearance?  What about other oral meds like Prevacid, Ursodiol, and Singulair?  We decided to keep doing his only remaining breathing treatment—daily Pulmozyme, and once a day Vest treatment.  We agreed that everyone would feel more comfortable experimenting with coming off Pulmozyme after we are past cold and flu season.  I anticipate that we may move to Pulmozyme every other day at our next quarterly visit, and then maybe stop altogether if that goes well.  Honestly, I am really hesitant.  I know that he has a clean CT scan showing no bronchiectasis.  I know he has no cough and healthy lungs…but it is just so scary.  Doing treatments is how we “take care” of our kids with CF and I’ve got a real mental block about removing breathing treatments altogether.  I just want to do the right thing for him, so we are being very cautious.  After all, the goal is not to get him off all his meds—rather, to have him achieve his best possible health, and we feel really good about his health right now. 

We also decided to hold steady with his oral meds, but agreed that it is a topic to be revisited.  At last year’s NACFC, I saw evidence that patients taking Kalydeco were able to restore normal pH in their digestive system—meaning that Prevacid should no longer be needed.  Brady still takes pancreatic enzymes, but his overall digestive function has never been better.  No stomach aches and perfectly normal looking poops (this might be too much info for those outside the CF world, but my CF peeps can appreciate this for the miracle it is!). 

As a baby and toddler, Brady occasionally had elevated liver enzymes, which is why he takes Ursodiol.  We monitor his liver function regularly with blood work, and he has maintained normal function for close to 2 years now.  Kalydeco is metabolized by the liver, and some patients report elevated liver enzymes on the drug.  For those with severe liver damage, adding a drug like Kalydeco can really stress the organ, elevating those numbers.  On the other hand, patients with a minimally damaged liver might actually be able to improve their liver function, as Kalydeco thins the thick mucus clogging the organ’s ducts.  Brady’s liver enzymes have remained in the normal range and even improved slightly since beginning Kalydeco, so we see the potential to remove the drug in the future.  I know that there are studies ongoing right now to examine how Kalydeco affects organs beyond the lungs, so I would really love to see the results of that work before we remove Ursodiol.  I expect to see some data at the NACFC next fall.   

Additionally, we are all thrilled that Brady’s serious sinus issues still appear to be completely GONE.  We haven’t seen his ENT in almost a year, and he hasn’t needed antibiotics or steroids since he began taking Kalydeco.  This is a stark contrast to the constant cycles of Prednisone, and 3X daily steroid rinses he used to need to “manage” his sinus symptoms (and none of this worked anyway.  He was well on his way to needing his second surgical sinus clean-out at age 4).  I will never forget how amazing it was to watch Brady regain his sense of smell and begin breathing through his nose after only 3 days on Kalydeco.  Today, Brady continues to breathe freely through his nose.  He hasn’t snored in over a year, and still enjoys smelling anything and everything around him. 

Basically, it was a fantastic clinic visit!  We couldn’t be happier about Brady’s health.  Kalydeco is everything we hoped it could be AND MORE! 

Brady in his new "blue lightening" super hero cape!

 

As for me, I am staying plenty busy.  I am on the Great Strides Committee in Spokane, WA and like many of you, I am working hard to build my team and fundraise for the walk.  I’m also planning a wine event to benefit the CFF this spring.  I just returned home from my second CFF Adherence Action Team meeting in Washington D.C.  It really is such an honor to work with the amazing people on my team.   Next month, we will wrap up our work with one final meeting in D.C., and our recommendations will be presented to the Board of the CFF.  As a community, we are so extremely lucky to have The Foundation.  Working on this strategic planning committee has illustrated for me how much the CFF cares about every aspect of fighting this disease, far beyond simply funding drug trials.  

As a side note, I was a little embarrassed going into the meeting this time.  On my way to D.C., I performed a running face plant on a moving walkway in the Salt Lake City airport trying to catch my next flight.  I went down hard—breaking my fall with my left cheek, leaving me with an impressive “shiner.”  I also scraped up my left knee pretty bad.  Nothing boosts your confidence more than showing up to a room full of people you admire with a black eye! 

Looks "tough" right?

 

When our Adherence meeting adjourned at 5:00 p.m., I had a choice to make: go back to my hotel room to ice my face and knee, or take a cab to the CFF Volunteer Leadership Conference in Reston, VA—a 30 min. ride from my hotel.  I hadn’t registered for the Conference because I knew I would be busy with the Adherence meeting.  I went to my room for about 5 minutes, but it was absolutely killing me to sit there feeling sorry for myself, knowing that my CF family was so close by…so I grabbed a taxi and arrived at the Conference around 6:00 p.m. (fashionably late, just in time for dinner!).  Almost immediately, I knew I had made the right choice.   I managed to track down Dr. Beall fairly quickly, and landed myself a seat next to him that evening.  This is the second time I have invited myself to a CFF dinner reception, and I figure I am probably getting a reputation as a notorious party crasher!  That evening, the CFF honored the volunteers who work so hard to fund our search for a cure.  I was surrounded by my heroes that night—and I had to fight back tears every second of the reception (sometimes unsuccessfully).  Dr. Beall told me that he had talked about Brady in his speech earlier that day and I nearly choked on my salad when the “My Dream for CF” video that I had filmed for The Foundation in 2011 came up on the big screen at dinner.  I may have been a party crasher—but I felt like I belonged there that night.  After dinner, I got the chance to meet and greet so many more of my heroes.  Most of the time, I was introduced as, “the mother of the rock-smeller,” or “the tattoo lady.”  I had banged up my knee pretty badly with my flying leap at the airport, so I had on some ugly gray tights.  Several people requested (in their least creepy tone) that I please take off my tights so they could see my Kalydeco tattoo.  


The day I got my tattoo, which reads, "Honor the Gift" and features a small blue lightening bolt and the molecular structure of the Ivacaftor/Kalydeco molecule.  What's not to love?

After 3 or so glasses of wine…I gave in and let the ol’ scabby knee and unpedicured foot out to display the seemingly famous tattoo!  It is so funny to me that my left foot is my most recognizable feature!  I tried to personally thank as many people as I could that night and shared the details of Brady’s experience with anyone interested in listening.  My heart swelled with pride and gratitude that evening and I have never been more inspired, energized, and determined to keep working. 

My hope for everyone I met that night, and for everyone reading this, is that you can see the light shining at the of the tunnel.  I know fighting CF can feel endless, dark, and scary.  I know that every minute waiting for a miracle, is a minute too long.  CF is an unpredictable bitch of a disease and I wish so badly that the combo could be available immediately.  Sharing Brady’s story and progress is important to me because the hope for the future is real and that light at the end of the tunnel is shining brighter with each passing day.  It is exhilarating to see the Vertex combo moving into phase 3 with a newly granted “breakthrough” status that could allow it to come to market even faster than Kalydeco—which was one of the fastest FDA approvals ever!  Follow the link to read about what this brand new breakthrough status means:  http://www.pharmatimes.com/Article/13-01-09/US_FDA_announces_first_Breakthrough_Therapy_Designations.aspx

Keep moving.  The tunnel may be shorter than you think.  Can you see the light?