Saturday, March 1, 2014

A Different Filter

More than 2 years have gone by since Brady began taking Kalydeco.  I want to take the opportunity to recap what life looked like for Brady pre-Kalydeco, back in February, 2012...and compare it Brady's reality now.

Brady's Status--Pre-Kalydeco, Age 4 1/2
Kalydeco was approved by the FDA on January 31st, 2012.  Brady took his first dose on February 10th, 2012.

Lung Health: Brady had very good lung health.  He had always presented with "clean/normal" cultures, and did not have any baseline cough.  A chest CT scan performed 1 month after beginning Kalydeco showed "no visible structural damage" to his lungs.  The hope was that initiating a treatment like Kalydeco at this earliest stage of lung disease may actually be able to PREVENT disease progression.  Prior to beginning Kalydeco, Brady's nebulizer schedule was:

Morning-Albuterol, Pulmozyme, and Hypersal (7%), followed by 20 min. in the Vest machine, for a total treatment time of 45-60 min.
Evening- Albuterol and Hypersal (7%), followed by 20 min. in the Vest.  Total time 30-45 min.

Upper Respiratory Health: Brady may have enjoyed good lung health at that time, but had a really tough time with upper respiratory inflammation.  Brady had undergone 2 surgeries as a 4 year old--tonsil/adenoidectomy, and an endoscopic sinus clean-out.   He had aggressively growing polyps that had completely shut off the air flow through his sinuses.  The polyps grew so large that they had begun thinning and shifting his delicate facial bones.  A CT scan of his sinuses showed that there was a risk of the polyps actually breaking through the eye socket on one side, and causing potential eye or brain damage.  Not cool.  The sinus polyps had also completely robbed Brady of his sense of smell.  He snored, snorted, and struggled to breathe at night and woke up frequently.  Brock and I could hear every breath he took at night, and we also struggled to sleep.  Brady never complained about any pain associated with the polyps, but I can't imagine that this felt good.

He took frequent bursts of Prednisone and antibiotics to deal with upper respiratory inflammation/infection and we used a device called "The Nasatouch" to irrigate his sinuses with steroids 3 times a day.  

I think the Nasatouch is an extremely useful device, but irrigating a 4 year old's sinuses, 3 times a day, is honestly just one step away from full blown HELL.  We basically had to hold Brady down like a criminal and shoot steroids into each nostril--10 seconds on each side.  I'm sure it burned and wasn't very much fun...but we did it.  Even with all our efforts to keep his sinuses open, the polyps began growing back just a few months after the surgery to remove them.  When Kalydeco was approved, Brady had just finished a Prednisone burst for inflammation, but it wasn't helping enough.  His sinuses were definitely getting bad again.   We had an appointment with his ENT coming up, and we were all dreading the thought of going through another sinus surgery.

Digestive Health:  Like many people with CF, Brady had severe pancreatic insufficiency.  I can pinpoint the exact day that his pancreas became completely clogged with mucus, and he stopped being able to digest food on his own (when he was between 2-3 weeks old).  He stopped gaining weight and began having all sorts of digestive distress.  He had already tested positive on the newborn screen for CF by this time, and was diagnosed with CF and put on digestive enzyme replacements within a week.  Brady was not born with meconium ileus, but he did have several soft/partial bowel blockages in the first 4 years of his life.  Like many with CF, I think he suffered with some low grade stomach pain and irregularity, as a rule.  Still, Brady was doing pretty well nutritionally, and his Dr. was pleased with his weight and height at age 4.

Brady's gut functioned best when he was taking approximately 2000 units of lipase/Kg body weight, at meal times.

Then it happened.  Our family was on vacation in Arizona when Kalydeco was approved by the FDA, ahead of schedule.  We were in a small town called Verrado, just west of Pheonix when we heard the news.  Within a week, we had gotten a prescription and insurance approval.  We rushed home for a baseline visit with Brady's Dr., so he could begin the drug immediately. 

 

Brady's Status Today, 2+ years taking Kalydeco.  Age 6 1/2

Lung Health: In the past two years, we have slowly eliminated almost all nebulizer treatments.  Currently, Brady does 2 puffs of Albuterol with a Vortex spacer, and a single vial of Pulmozyme, once a week, for maintenance.  The environment in his lungs has changed so drastically, that he can no longer tolerate 7% Hypersal, and we don't use it at all anymore.  We also questioned whether or not Brady needed Pulmozyme for maintenance, and decided to slowly taper down from this medicine also.  I feel really comfortable doing it once a week, and having it on hand in case Brady comes down with a virus (if he gets gunky, we will do Pulmozyme daily until the virus is gone).  His current schedule looks like this--

Morning-15 minute session on the Vest is all we do on most days.  Once a week he does a vial of Pulmozyme before the Vest.
Evening-We do NOTHING to manage CF.    

It has been really difficult for all of us (my husband, myself, and Brady's CF Dr.) to make some of these decisions about how to proceed with Brady's treatment schedule.  We have every indication that Kalydeco is working great for Brady, but the LAST thing we want to do is remove a medicine that he still needs.  Because Brady started Kalydeco in a place of excellent lung health--no known bacterial colonizations, no baseline cough, and a CT showing no structural damage--we hoped that Kalydeco alone might be enough to maintain his lung health and free him from the progression of CF lung disease.  Last week, we did another chest CT scan to offer us some feedback.  

I am ecstatic to report that the chest CT scan from last week was identical to his scan 2 years ago--NO VISIBLE STRUCTURAL LUNG DAMAGE 

There is plenty of documented evidence that CF lung disease can progress in the absence of symptoms, so we were really relieved that his lungs seem to be doing so well without daily maintenance (beyond that little blue pill!).  We feel a little more confident that we are following the appropriate path to maintain his lung health...and have the highest hopes that this will continue as long as he maintains functional CFTR with Kalydeco. 

Upper Respiratory Health: The upper respiratory inflammation that Brady had battled for years came to a screeching halt just a few days after beginning Kalydeco.  He was breathing freely through his nose within a week of starting K, and he hasn't needed steroids or antibiotics for his sinuses at all since then.  He stopped snoring at night and regained his sense of smell.  He never needed the next sinus surgery we saw looming on the horizon.  We stopped using the Nasatouch device and currently do absolutely NOTHING to manage this former "headache".  He is completely free of sinus polyps, and sinus symptoms.  It has been remarkable.  

Digestive Health: When Brady first began taking Kalydeco, we noticed some constipation (similar to what might be seen with an increase in enzyme dosage).  We wondered if Kalydeco had affected his ability to secrete digestive enzymes into the small intestine.  There is the hope that in patients without too much pancreatic scar tissue, some function might be restored with a drug like K, that works to thin secretions.  We experimented with lowering his enzyme dosage a bit, but ultimately decided that his gut still functions best with a similar enzyme dosage as always--approx 2000 lipase units/Kg body weight with meals.  To confirm this, we repeated a fecal elastase test last week, and weren't surprised to learn that Brady still has "severe pancreatic insufficiency."  Some patients have been able to reduce enzyme usage with Kalydeco.  I have even heard of some patients being able to stop altogether with enzymes...but not Brady.  His pancreatic damage seems "irreversible" at this point.  With that said, I can't stress how much IMPROVEMENT we have seen with his digestive function!  He hasn't seen a huge weight increase like some patients experience, but it is important to note that he started out with excellent growth percentiles.  So if Kalydeco hasn't improved his pancreatic function...why have we seen such dramatic improvement in his digestive function?  My theory is this--

1) When CFTR function is restored--the mucus in the digestive tract is restored to a thinner, more watery consistancy (similar to the normalization of lung mucus).  You can imagine that excessive, thick sticky mucus in the gut does NOT promote digestion and absorption of nutrients (in the same way that excessive thick mucus in the lungs does NOT promote the transfer of oxygen). Less mucus = better absorption.

2) CF patients typically have an overly acidic environment in both the lungs and gut, resulting in a cascade of chemical imbalances.  In the lung, an overly acidic environment reduces the lung's own natural "killing power" of foreign microbials.  In the intestines, the overly acidic environment causes problems with the efficacy of enzyme replacements.  The enzymes beads are designed to remain intact in an acidic environment (so that they can survive the stomach acid), and dissolve only when the environment turns basic.  In healthy individuals, bicarbonate is released as food passes from the stomach into the small intestine, changing the environment from an acidic pH to a basic pH.  This is where digestive enzymes beads SHOULD dissolve (or where a healthy pancreas secretes natural digestive enzymes) to break down food.  Individuals with CF often have a difficult time achieving the "basic" environment needed to dissolve the enzymes and allow them to work as well as they can.  Many patients take acid blockers like Prevacid or Prilosec to help lower their overall acidity and help their enzyme replacements work better.  Researchers have shown that patients taking Kalydeco were able to restore an optimal pH to their intestine, thereby maximizing the benefit of their enzyme replacement therapy.  In other words, Brady is still taking the exact same dosage of enzymes, but they are actually WORKING far better.  This normalized pH, in combination with the thinning of intestinal mucus has improved his digestive function greatly.  Brady's growth has continued at a healthy pace, and everything in the bathroom has been very "normal" (huge contrast from some of the unusual things I saw come out of that child before!) since Kalydeco came into our lives. 

 

 

As far as we are concerned, the changes in Brady's health over the past 2 years have been truly amazing.  I am so encouraged by his latest CT scan, and overall well being.  For my husband and I, finding our new normal has been surreal process.  This winter, we went back to the same small town in Arizona, where we were vacationing when Kalydeco was approved in 2012.  In my mind, Verrado, Arizona is a magical place.  We were so excited to go back, and in many ways, life looked very much the same...

We looked at dino bones before Kalydeco...
Then we did it again 2 years later.

We took desert hikes in 2012 before Kalydeco...













And did the same hikes in 2014.

He fed Giraffes before...(age 4 1/2)
And then did it again. (age 6 1/2)
Brady has grown so much, and he doesn't have his "Prednisone face" anymore, but otherwise you would never guess how much has truly changed in our lives over the last 2 years--all the invisible time, energy, sleep, and peace of mind Kalydeco has given to us.  Look more closely and you will see that the pictures are actually very different--to me, it feels as if Kalydeco has given us a new filter for the camera lens.  This filter is much less burdensome to carry, and every photo is enhanced by the warm glow of relief and gratitude.    

6 comments:

  1. Hi Rebecca. Great to hear from you again. You're an inspiration to all CF parents.
    Have you had any more sweat tests done in the last year or so?

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    1. Hi Jim,
      Great Question. We haven't had a sweat test done recently, but he has had 3 since starting Kalydeco. His baseline sweat test was 105 mmol/L. After 21 days on K, it went down to 47 mmol/L. After 6 months--17 mmol/L. After 1 year--27 mmol/L. I will request another sweat test at our next clinic appt.! Thanks for reading!

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  2. Thank you for your update and your insights which are wonderful. My son Dylan was diagnosed at 6.5 years old 6 months ago in San Francisco where we live. Like your son, he did not present as small or even much of a kid who gets sick, but he did come down with two bouts of lung infection, and had history of what we thought were "allergies," that finally tipped the right doctor off. Also, like your son, we found out he had significant Pancreatic Insufficiency. Needless to say,we were (and still are) devastated by this news. Fortunately, like your son, Dylan is eligible for Kalydeco as he is D551 on one mutation. We have been on it for 4-5 months and just had a clinic visit yesterday with his doctor saying his lungs sound "normal." Also Dylan has gained 8 pounds in the last four months (he is now in the 80th percentile for height and weight) on Kalydeco, enzymes, two vest treatments and one Pulmozyn treatment daily. We are going back for sweat test next month and another Xray, and based on the doctor's positive comments so far, I'm pretty confident they are going to be heading in the right direction. Again, its great to hear about someone with some nice science knowledge in the same boat and I am so happy for you and your family. Andrew

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    1. It sounds like you have been on a roller coaster lately Andrew! So wonderful that Dylan gets to benefit from Kalydeco. I am optimistic that you will get some positive results from the sweat test and X-ray! Nice to know there are others that can relate out there. Thanks for reading!

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  3. Hi Rebecca- I recently met with Gayle from the national CF foundation regarding my almost 9 month old son Brady. The first thing she asked me was what mutations does he have and I told her DF508 and G5519. She was so excited when I told her this and immediately told me about you and your son. She has such positive things to say about your Brady's progress since starting Kalydeco and it was very uplifting to hear. We of course were shocked and devastated when we found out Brady had CF after his routine newborm screening came back He didn't have any problems passing his muconium so our stay in the hospital after he was born was normal After his test results came back his peditrician called with the news and I will never forget that call. I felt like I'd been hit by a truck. We do however feel very fortunate that when Brady is old enough, Kalydeco will be available for him. We are trying to keep our little guy as healthy as possible so when he is able to start the damage is minimal. So nice to read your blog, it's given me a lot of hope for our son's future. Best wishes to Brady and your family. Natalie Pearson

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    1. *G551D not G5519 oops, didn't proofread very well :)

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