Sunday, September 9, 2012

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 26th, 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 90th 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 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!

6 comments:

  1. This is so exciting to read. I am so happy for your family, and have high hopes that my nephew will get to experience the same quality of life changes when a drug is approved for his mutations someday!

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  2. what wonderful news for your family - and all CF families who read this blog. We have been quoted NZD$200,000 per year as the likely cost of Kalydeco when it one day gets to New Zealand. For my 12yo son with CF [double DF508], this is too much and probably too late. I can still dream though!

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  3. I need to talk to you rebecca.
    please write me on cftrsplicing.com
    We are urging another subpopulation that can be treated with Ivacaftor.
    cftrsplicing@gmail.com

    ReplyDelete
  4. Hi
    This was so amazing to read. My son has just started the trial in the UK for under 6's with other gateway mutations. He's been on it a week and I've noticed the increase in appetite and just a general added sparkle to him.
    It's like being offered the one thing in the world you dreamed of.
    May bradly continue to be in good health x

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