Wednesday, August 14, 2013

Comparitive Analysis and Golden Ticket Syndrome

This summer has been so fantastic..I've allowed myself to get a little lost in it.  We are fully enjoying the time and freedom Kalydeco has given us, and it feels like the life I had envisioned before I ever heard the words cystic fibrosis.  There have been several occasions this summer where everything has felt so crazy easy. Packing for a vacation or camping trip no longer requires special coolers full of meds, or lugging around expensive heavy machines. When we get invited to have dinner with friends, we don't have to rush home early to save time for treatments--we get to stay and play.  Sometimes it is difficult to understand the true weight of the treatment burden, until that burden has been lifted and you are free to experience life from a different perspective.  Brock and I are both still in awe that this is really happening for our family.  It STILL seems a little too good to be real.  

Flashback--Jan 31st, 2012


Backyard of the house we rented in Buckeye, AZ

We had been vacationing in Arizona when the FDA approved Kalydeco.  Brady was just coming off another round of Prednisone.  His sinuses were getting really bad again, and were completely blocked by polyps. He couldn't breathe through his nose at all or smell anything.  We had an appointment scheduled with Brady's ENT when we got home, and we knew there would likely be another sinus surgery in our near future.  I used to lay in bed and listen to Brady snore and snort himself awake every night.  His sinuses made breathing so labored and noisy, that I could literally hear his EVERY BREATH.  I can't even guess how many sleepless nights I listened to him struggle, cursing cystic fibrosis with every fiber of my being.  I remembered the look of fear and confusion that filled Brady's eyes as the anesthesia wore off from his previous surgeries, and my heart was filled with bitterness at the thought of doing it again.  Then Kalydeco came into our lives...

A Comparison: Pre-Kalydeco vs. Today 
Brady took his first dose of Kalydeco on Feb. 10th, 2012--just over 16 months ago.

Weight Pre-K: 46 lbs.     Height Pre-K: 42 1/2 inches
Weight today: 52 lbs.     Height Today: 48 1/2 inches
Brady didn't experience the huge weight gain that some do when starting Kalydeco.  His growth has always been at the top of the charts and he continues to be large for his age.

Sweat Test:
Pre-K:                      105 mmol/L
After 20 days on K:  48 mmol/L
After 6 mo. on K:     17 mmol/L
After 1 year on K:    27 mmol/L
Without a doubt, Brady has experienced a huge drop in sweat chloride levels.  It is interesting to me that the number has bounced around a little.  Not even the experts have been able to explain why, but my theory centers around Kalydeco's property of fat solubility.  Since Kalydeco is a fat soluble compound, it must be taken with dietary fat, so it can be "dissolved" within that fat and absorbed by the body.  For a CF patient to properly absorb fat, the meal must also be taken with the appropriate dosage of enzymes...or the fat will pass through the body unabsorbed and take the dissolved Kalydeco along with it.  Right after Brady started taking Kalydeco, he experienced a lot of changes in his digestive function and we experimented with lowering his enzyme dosage.  We finally decided that while his digestion had improved, he still needed similar enzyme levels.  We gave him a little dosage bump just prior to his 6 mo. post Kalydeco test.  I think the lowest sweat test score (17 mmol/L) is reflective of an ideal absorption situation where Brady was getting the most out of Kalydeco because of proper fat and enzyme dosage.  That is my theory until I hear evidence to convince me otherwise.  Of course, many of you know that dosing enzymes appropriately isn't an exact science and can be difficult for even the most savvy caregivers--especially since enzyme needs are constantly changing as kids grow.    

Breathing Treatments:
Pre-K: Morning--Albuterol followed by Hypersal and Pulmozyme via nebulizer (approx 45 min).
            Evening--Albuterol followed by Hypersal (approx. 35 min.).

*Brady followed this twice daily Albuterol/Hypersal and once daily Pulmozyme regimen as maintenance--more treatments would have been added during any viruses or exacerbations.

Today: Brady is VERY SLOWLY tapering off his last remaining breathing treatment--Pulmozyme. First, we moved to 1 Pulmozyme treatment, every other day for a month.  After that, we did Pulmozyme once every 3 days for a month.  This month, Brady is doing 2 puffs of Albuterol with a Vortex Spacer followed by a vial of Pulmozyme once every 4 days.  That translates to just 7 (approximately 10 min) breathing treatments for the entire month of August.  There has been a HUGE reduction in the amount of time Brady spends with a nebulizer.  We go to clinic at the end of this month and I don't see any reason why we won't continue to taper down from Pulmozyme until the treatments are GONE.  Brady has zero baseline cough, normal CT scan, and clean cultures.  We don't really have any indication that he needs Pulmozyme at all anymore, but we want to be especially careful and cautious about removing it--hence the ridiculously slow, controlled taper.

Airway Clearance
Pre-K: 20 minutes, twice daily on the Vest machine after breathing treatments.
Today: 15 min on the Vest once a day.
We only want to change one element of Brady's care at a time, so we are remaining focused on reduction in breathing treatments.  We might consider reducing/stopping Vest treatments in the future.

Sinuses
Pre-K: Aggressive sinus polyp growth.  Brady had a lot of upper respiratory inflammation and had his tonsils and adenoids removed in July of 2011. He had endoscopic sinus surgery in October 2011 to clear out the polyps.  Brady needed recurring bursts of Prednisone to manage the polyp re-growth as well as 3X daily steroid sinus rinses with a device called the "Nasatouch."  Brady absolutely HATED the treatments and we had to hold him down like a criminal to do the steroid rinses.  It sucked so bad.  Despite our aggressive efforts to slow the progression, the polyps had already re-grown to completely block his airway again by late January, 2012 and we were prepared to discuss another surgery with his ENT. For reference, Brady saw his ENT 11 times in the 6 months before he started Kalydeco.

Today: Brady has absolutely no sinus symptoms.  He doesn't snore at all and he seems to have completely regained his sense of smell.  We stopped the steroid sinus rinses long ago (well over a year) and he certainly doesn't need the constant bouts of Prednisone anymore.  For Brady, his sinuses were the issue most affecting his quality of life at age 4, and the symptoms began to disappear within DAYS of beginning treatment with Kalydeco.  We have only been to visit the ENT one time since Brady started Kalydeco, and the Dr. was amazed with what he saw.  He remarked that Brady's sinus tissues actually "looked" different to him and was thrilled that the symptoms had vanished.

Liver Enzymes
Patients taking Kalydeco are monitored for elevated liver enzymes with regular blood work. Brady's levels have remained within the normal range.


Sometimes at night, I open Brady's bedroom door and watch him sleep for a few minutes.  Silent, effortless breathing can be so very precious and beautiful.  Just a few days after Brady turned 6 (July 26th), Vertex Pharmaceuticals called us to get him enrolled in the patient assistance program. We learned that with our insurance and the patient assistance program, Kalydeco will cost us next to nothing next year.  Don't get me wrong, I am thrilled about this but....at the same time, I am nauseated by how easy Kalydeco is to obtain for some, and how IMPOSSIBLE it is to obtain for others (even if it might be just as effective for them).  Right now in the CF world, that G551D mutation is like a Golden Ticket for those who live in countries with access to Kalydeco.



This Golden Ticket doesn't involve a fabulous chocolate factory though.  I've found it feels more like this--

Scene From a Dream I Had Recently
The entire CF community is running from a pack of hungry lions. Everyone is screaming and running for their lives.  Randomly, a small number of patients are given a Golden Ticket, which instantly propels them to the very front of the running, screaming pack.  All of a sudden, there is a much safer distance between those lucky patients and the lions...but they are still running and scared.  Every time someone with a Golden Ticket turns their head to look back, they witness the beasts attacking the weakest, and sickest of the group--friends and loved ones.   


It is graphic and horrific.  It is unfair.  The Golden Ticket holders can't stop asking--Why was I chosen to be so lucky?  Why am I alive and ____ isn't?  They realize they could have easily been the next meal for the lions, but for some reason they were spared...at least for the time being.  

*Disclaimer--"Golden Ticket Syndrome" is something I made up.  I woke up with this scene in my head a few mornings ago after a dream.  I am not trying to imply that everyone with CF feels as though they are being chased by lions.  I am merely trying to illustrate how Golden Ticket Syndrome manifests itself in my fragile little mind.

Do I feel relieved that my baby isn't being devoured by hungry lions?--Of course. But I absolutely don't feel good either.  I have heard some version of Golden Ticket Syndrome described again and again by patients taking Kalydeco.  It is an awful mix of guilt, gratitude, sadness and fear.  I am so thankful that we were handed that Golden Ticket, but I can't stop running until all the lions are gone.

2 comments:

  1. "I am so thankful that we were handed that Golden Ticket, but I can't stop running until all the lions are gone." -- beautiful and on behalf of the rest of us still waiting for our golden ticket, thank you for continuing to run.

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