Brain Pain

I will never ever forget the fear that comes along with dealing with CF, but it has been over 7 months since Brady has been on Kalydeco now and I can feel myself adapting to a new normal.  The fear is losing its grip and I've even found myself away from home WITHOUT hand sanitizer a time or two (gasp!).  Before February 10th, when Brady took his first dose, I simply could not conceptualize what my post-Kalydeco world would look or feel like.  Getting him that medicine was my singular focus and goal.  Well, he got his medicine and time has marched on.  Since I'm one of those people that like to have control of everything, this "after" time has been really refreshing for me.  For once in my life, I feel like instead of making lists and plans...I am just enjoying the ride.  There have been a few surprises for me along the way--some fantastic, others not so great. 

#1--I thought that once Brady got Kalydeco, everything would be great and I could stop worrying about CYSTIC FIBROSIS.  The reality is that I am tortured by the fact that others who could benefit from Kalydeco can't get it because of the many roadblocks to access.  This feeling mixes with the guilt of being one of the first families to benefit and rips my heart to shreds.  Overall, I feel extremely disillusioned with the world because people that I care about will get sicker or need a transplant because they don't have the $300K/year to pay for this drug. Or maybe their Dr. just isn't on board with writing the Rx because he isn't educated enough about the potential.  It hurts my heart and my brain.  This feeling is only amplified as I see how wonderful Kalydeco is working for Brady. 

 

#2--I thought that once Brady got Kalydeco, I could stop worrying about him all the time and everything would be just peachy.  What I've found instead, is that every parent worries about their children all the time no matter what.  Now my worry has shifted to what some might consider more "normal" parent concerns.  I spend a lot more time worried about Brady getting kidnapped (and hoping the kidnapper will at least remember to take the Kalydeco!), or hit by a car when he is playing outside.  I worry about him picking the wrong person to date or experimenting with drugs...With CF on the sidelines, my mind has been more free to just wander.  The realization I've come to is that there is ALWAYS going to be something to worry about.  I can't control the world (as much as I want to!).  All I can do is love my family and friends every day and cherish the health and happiness that we have in this moment. 

Enjoying our fall Farmer's Market!

#3--I have found tremendous JOB SATISFACTION.  Let me just reiterate that I am unemployed (convenient, huh?).  I don't work for the CF Foundation.  I don't work for Vertex.  I wondered what the hell I would do after Brady got Kalydeco and I didn't have to dedicate every second of my life to fighting for this medicine.  I'm so lucky that my husband has an excellent job that has allowed me to stay home with Brady from birth to present.  I've been able to teach Brady so many things in our time together and I've found myself a job as a caretaker/cheerleader/mentor/translator/fundraiser for the CF community.  I remember the first few months after Brady's diagnosis as the darkest time of my life.  Sharing research information with families makes me so happy because scientists are on the right track and there is GOOD NEWS.  It is incredibly empowering and wonderful.  I don't have any conflicts of interest.  My only concern is helping CF patients and families get what they need.

#4--I thought that once Brady got Kalydeco, life would be calm and serene.  Man I am an idiot.  I've been so "worked up" since Brady started taking the drug that my insomnia is worse than ever!  Since I've been subsiding largely on coffee and champagne for the last several weeks, I'm sure I'm working on an ulcer flare-up also.  Watching Brady's transformation has been so thrilling.  Every new test result sends me right back over the moon (like his most recent sweat test: 17mmol/L!!  I walked around yelling 17?!?! for days).  My heart is all wrapped up in all these other CF families and I constantly have YOU/YOUR child's mutations swimming around in my mind.  I'm working on my little notebook to take to the NACFC with all the questions I want to ask, and all the specific mutations I want more information on.  Basically, I've worked myself into a frenzy.  And because I attended the Conference last year, I know exactly how awesome it is going to be! The thought of sitting down to dinner with "CF Celebrities" makes my palms sweat!   Not to mention that I have a huge knot in my stomach wondering what new data will be presented because I know how much it means to CF patients and families.  I know how much is riding on the results of that research.  Will an effective combo be ready to market in 2016?  Or will it take longer? 

Is "Brain Pain" a real condition??

I got a haircut today, bought new luggage,  and am trying to figure out what I'm going to wear?!  It's crunch time!  I seriously hope I don't just drop dead of a heart attack from all the excitement!

NACFC Prep

Last year I attended the NACFC in Anaheim and blogged about my experiences there.  I've been reviewing what I learned and working on my plan of attack to get the answers I'm looking for this year.  Here is my first NACFC 2011 post if anyone else is interested in reviewing: http://luckycfmom.blogspot.com/2011/11/prelude-to-kiss.html 

As I prepare to attend the NACFC next month in Orlando, I'm thinking mostly about:

1) Combo Trials--I will be looking for details on how both VX/770-VX/809 and VX/770-VX661 are progressing.  I am also interested in seeing if they will be presenting a new 3 drug combination to start down the development pipeline.  Last year, it was revolutionary news that they had discovered 2 misfolding problems that needed correction for DF508.  In the lab, 3 drug combinations (2 correctors to treat each misfolding site + Kalydeco to open the CFTR channel once it reached the surface) worked REALLY WELL.  A combination like this would be a few years behind the combos currently in trials, but has the potential to achieve the magnitude of change for DF508 that Kalydeco has shown for gating and conductance mutations.  http://luckycfmom.blogspot.com/2012/02/genetic-origami.html

Also within the realm of combo trials, I am very curious how they plan to proceed in trials with heterozygotes.  Is there new "transcomplementation" data being presented this year?  http://luckycfmom.blogspot.com/2012/03/calling-all-heterozygotes.html  What about the "trial of 1" concept proposed earlier this year by Peter Mueller of Vertex?  http://iom.edu/~/media/Files/Activity%20Files/Research/GenomicBasedResearch/2012-MAR-21/3%20-%20Peter%20Mueller.pdf
Is this recently announced clinical trial a "trial in a box" as described by Mueller?  http://clinicaltrials.gov/ct2/show/NCT01685801?term=vx-770&rank=19

2) Kalydeco questions like: Will they be moving forward to see Kalydeco marketed to COPD patients? http://www.sciguru.com/newsitem/14332/cystic-fibrosis-drug-kalydeco-may-be-useful-treating-copd-smokers   If they open up the market to a large population like this, it could certainly affect the price of Kalydeco.  

What the hell is going on in Europe and other parts of the world in terms of access...or rather, lack of access?!?!  Everyone who read my last blog entry knows exactly how I feel about making Kalydeco available to those who need it. 

I want to take the opportunity to discuss the many off-label prescriptions (because of both age and mutation) have successfully been filled and are showing positive results.  Last year, everyone swore that we would be unable to get Kalydeco to Brady at age 4 1/2 and they were WRONG about that!  Being at the NACFC is going to enable me to sit down to coffee with Bob and give him the real scoop on what is really happening in our CF world.   Last year he called me his, "link" to patients and parents.  I honestly think that the CF community is more empowered and educated than ever before because we've come together to share like a family (and we have the internet!). We are able to learn about the latest research from the comfort of our own homes. I love to hear how many parents are educating their child's DOCTOR about the latest in CF research and newest information on their child's particular genetic code.  We have DEMANDED that our voices are heard, even when our own CF specialists might be hesitant.  I would love to hear more detail on the timeline they see to opening up the FDA approved label to include other mutations and/or children under 6. 

I have lots of other crazy question like: Could a pregnant woman take Kalydeco?  Could meconium ileus, pancreatic insufficiency, and other complications be prevented if the mother of a fetus with G551D(or other mutation positively affected by Kalydeco) began taking the drug during pregnancy and then the infant began therapy at birth?  Can you imagine??  What about how Kalydeco affects other organs besides the lungs?  I've seen Brady's serious sinus issues disappear and that was not a reported or tested clinical trial parameter. Theoretically, Kalydeco should be able to prevent deterioration of other organs such as the liver and pancreas.  Are clinics seeing this in practice?

I realize that there are no real answers to some of these questions, but I'm still pretty curious to sit down with some of these researchers and CFF execs and hash out the possibilities. 


3) Ataluren
Please.  What is the hold up with information regarding Ataluren??   Are they still planning on marketing Ataluren? I'd like to hear more detail about the side effects they recorded in the clinical trials.  I'm also very curious to hear if they have tested an Ataluren + Kalydeco combination.  This was a concept mentioned as a possiblity at last year's Conference.  If non-toxic in combination, Kalydeco might be able to provide those important sweat chloride changes that they didn't see with Ataluren alone.

These CFTR modifiers are game-changers, and I hope I can report some amazing, awesome news this year!  My husband Brock is attending the Conference with me this time, and we are a great team!  We plan to split up during some sessions so we don't miss any important talks taking place during the same time slot.  He is so excited to shake hands with Dr. Beall and the Vertex team.  Last year, I was afraid that my heart might explode with gratitude as I sat side by side with these brilliant researchers...and that was BEFORE BRADY EVEN GOT KALYDECO!  This year, the "thank you's" will mean even more!!  Stay tuned...these blog updates are about to get really GOOD!  Only 21 more days til Conference!  If YOU have a burning question about CFTR modifiers that I didn't mention, leave me a comment and I'll add it to the list! 

Case Study

Our friends in Europe are still fighting to get Kalydeco.  Patient advocacy groups have been rallying to pressure governments to move forward with marketing of the drug, but cost negotiations continue to stall distribution.  We  were asked to participate in a "case study" for our European friends to present to deciding bodies about the effects of Kalydeco.  This is what I said,

 

"Brady Schroeder was born on July 26^th, 2007.  He tested positive on a newborn screen for CF and we proceeded with genetic testing, which confirmed his diagnosis of cystic fibrosis (G551D, DF508).  Like most children with CF, Brady has required digestive enzymes and special vitamins to maintain proper growth.  He began having serious upper respiratory issues with sinus polyps at age 3.  By age 4, his sinuses were completely obstructed with CF related nasal polyps, and he had completely lost his sense of smell.  CT scan revealed that the polyps had grown so large, that they had begun to thin and shift bones in Brady’s face.   Bursts of oral Prednisone were used every 8-10 weeks to slow the polyp growth as well as 3X daily steroid rinses for the sinuses.  Even with regular steroid and antibiotic use, the polyps required surgery when our son was just 4 years old.  While this was not a life-threatening issue, it was a huge quality-of-life issue. 

Surgery 1 of 2: Summer 2011

 

Even though Brady had maintained relatively good lung health for a child with CF, he still did hours of daily nebulizer and airway clearance treatments to slow the progression of CF lung disease.  Prior to beginning Kalydeco, he did twice daily Albuterol/Hypertonic Saline treatments as well as once daily Pulmozyme.  He also spent 20 minutes on his Vest machine twice daily as maintenance.  The regimen of staying healthy with CF is extremely time consuming and exhausting.  It feels like fighting a battle you know you will never win.  Every clinic visit seems to bring a new complication, a new infection, and a new medicine.  It becomes very hard to look toward the future when you aren’t even sure how to get through the current day.  When CF is in your family, the focus becomes keeping that person breathing, growing, and alive.  Friendships and vacations tend to fall by the wayside because an exacerbation or virus too frequently forces a change in plans.  It is impossible to describe the pain and mental anguish of watching your child struggle to breathe within the grips of this cowardly disease. 

On February 10, 2012 Brady took his first dose of Kalydeco.  The first few days after beginning the drug, we noticed a remarkable increase in his energy level and exercise tolerance.  Within 3 days, Brady began breathing through his nose for the first time in over a year.  He stopped snoring and breathing through his mouth at mealtime.  Within a week he began to make non-stop comments about smells in his environment.  Brady hasn’t needed a single dose of Prednisone or antibiotics since beginning Kalydeco, and has also completely stopped the steroid rinses for his sinuses!  It has been a truly phenomenal turn-around that shocked his Ear/Nose/Throat specialist.  Before Kalydeco, we were seeing the ENT on a monthly basis.  Post Kalydeco, we have only seen him once (to document the positive effects of Kalydeco!). 

Brady’s appetite increased noticeably and his growth has been absolutely phenomenal since starting Kalydeco.  He has grown 3 inches in just 6 months on the drug and has gained over 3 lbs, putting him into the 90^th percentile for both height and weight-for-age!  He has a decreased need for digestive enzymes, and has fewer stomach aches and CF digestive issues in general. 

Camping trip, summer 2012.  Best summer of our lives!

Brady had a dramatic drop in sweat chloride with Kalydeco.  When he began on Feb. 10, 2012 his sweat chloride was measured at 105 mmol/L.  After 20 days on the drug, we retested and the number had dropped to 48 mmol/L.   After more than 6 months on Kalydeco, we repeated the sweat test and were amazed to hear that it had dropped to 17 mmol/L—completely within normal range, indicating properly functioning CFTR.  The implications of getting a genetic modifying drug like Kalydeco to our son at the early stages of disease are immense.  Because cystic fibrosis is a degenerative, passage of time generally equates to permanent organ damage as a result of dysfunctional CFTR.  Because Brady had suffered little to no permanent lung damage before beginning Kalydeco (as seen in CT scan), he has been able to greatly reduce the number of maintenance treatments he does on a daily basis.  We have completely stopped the twice daily Hypertonic Saline treatments.   We are currently tapering down from Pulmozyme treatments and spending reduced time in the Vest also.  We will continue to be cautious and slowly reduce his treatments under the advisement of his CF specialist, but we can clearly see the day in the near future that our son will no longer need any nebulizer treatments or airway clearance treatments on a daily basis.  Kalydeco has given our young son a second chance at long, healthy, “normal” life.  He will likely NEVER be hospitalized again as a result of CF.  He will not need a lifetime of intravenous and inhaled antibiotics and steroids. I will not have to watch him struggle to breathe.  There is simply no way to accurately describe the enormous positive impact Kalydeco has had on Brady and our entire family!  Watching a disease like cystic fibrosis destroy your child is any parent’s worst nightmare.  You desperately wish there was something you could do to help.  You would give anything in the world to ease their suffering—Kalydeco is that miracle.  As someone who has seen the power of this drug first hand, I urge you to not only consider the price, but also the mountain of clinical and anecdotal evidence that this drug lives up to its reputation.    Unfortunately, in the CF world, time is not a luxury that we enjoy.  I respectfully urge you to approve and begin marketing Kalydeco to those who need it immediately.  I would be happy to provide further detail and/or documentation of the claims made in this letter.   It has been such a life-changing miracle for us, that my husband and I are flying across the U.S. to attend the NACFC in Orlando next month.  Shaking hands with the Vertex team that developed Kalydeco is going to be one of the most memorable, intense moments of my life!

We haven’t seen any negative side effects of Kalydeco.  We have regularly tested Brady’s liver enzymes and they have remained stable and within the normal range.  The positive side-effects of Brady beginning Kalydeco have included: more energy, more restful sleep, restored sense of smell, complete disappearance of serious nasal polyps,  increased appetite, increased rate of growth, fewer digestive problems, reduced breathing treatment time, reduced airway clearance time, no further need for antibiotics or steroids, and much more normally functioning organs.  Those who love Brady have experienced a huge reduction in stress and anxiety.  We now have the ability to look toward the future, and an endless gratitude for modern medicine.  It is absolutely critical to get Kalydeco to those who need it in the timeliest manner possible.

Sincerely,

Rebecca Schroeder, Mother of Brady Schroeder age 5."

I also included the link to the news interview about Brady and Kalydeco: http://www.krem.com/news/health/New-drug-provides-miracle-for-4-year-old-CDA-boy-battling-Cystic-Fibrosis-148978145.html

I think it is pretty clear that I am a Kalydeco "super fan"!  I'm already buzzing with excitement for the NACFC next month!  Look for some exciting blog updates!