24 June 2012

Oliver's School Raises Money for CF

At the end of this year's school year, Oliver's school spent a week to raise money to find a cure for Cystic Fibrosis. It was very special for our family to have such young children work so hard to raise money to help Bennett.

The second grade class sponsored the "Penny Wars" fundraiser so they made signs telling the other students why they were raising money for CF.    

Each morning, during the whole school meeting (called "Town Hall"), Oliver's principal made significant efforts to help teach the students about Cystic Fibrosis and why helping others is important.  One morning, one of the second graders' brother (who has CF) came and talked about his fight against the disease.  Another morning, the school showed Bennett's most recent Great Strides video which tells about Bennett's CF.

To my surprise, several of the children were very touched by all of this CF talk in the school.  One of those children is kindergartener Eric (pictured with his younger sister, Meg) who asked his mother if he could have a Lemonade Stand to raise money for Cystic Fibrosis.  How adorable is that?!?   Together (with the help of their mother), Eric and Meg raised $127.00 one afternoon.

In total, the children at Oliver's school (ages 2-13) raised $1300 for Cystic Fibrosis.  But more important than the money they raised was how much people were touched by all of their efforts, including our family.  How blessed we are to have such a sweet community to support Bennett.

There is something so beautiful as a child's heart.  Our little friend Cody recently said to me, "Mrs. Gamel, do you ever wish Cystic Fibrosis wasn't alive?"  Yes, Cody, I do.  But it's little people like you who give us hope there may be a day when there is no Cystic Fibrosis.  Thank you to Oliver's school and all the children (Mom and Dads) who helped us raise money to find Bennett a cure.

16 June 2012

Going to "Summer School"

{:::EDIT: Kathleen, to answer your question.  Yes, we could raise funds for Bennett's $23,000/month Kalydeco medication.  However, our entire CF Walk in Waco (which included participation from 15 teams and 100+ people) raised a total of $42,000 this year, which would cover only 2 months of this medication for Bennett.  So, it seems a bit unrealistic to believe that we could raise that amount on our own any time soon.  In fact, we had a very generous couple who heard about Bennett's story and had initially wanted to write a check for $25,000 to help with his medication.  But when they heard that amount would cover him for only 1 month, it became clear the exorbitant amount makes it cost prohibitive to continue without insurance reimbursement.  To answer your other question - yes, we feel very confident that if the insurance company was able to see how well Kalydeco works for Bennett, there is a real chance they might approve it.  However, we would need more than one month's supply and, even then, there is no guarantee.  So, we are choosing to believe the best use of funds raised is still for the Cystic Fibrosis Foundation and that our time waiting is not in vain.  But, at this point, we are faced with the reality that unless insurance changes their mind, we are no different than most of the 70,000 people around the world still waiting for a cure for Cystic Fibrosis.:::}  

Some big changes have happened in our family this month.  First, we decided to place Bennett in school with big brother Oliver this summer.  The school calls it "summer camp" but it's the same as school to us.  It has been helpful to keep Oliver on a similar schedule as during the school year and it's nice for Bennett to get play time with little friends.  For me, its an opportunity to get errands done!

Sweet brothers on the first day of Summer School 2012
Over the last few months, as we have seen Bennett's feeding issues improve, Brian and I have begun discussing the idea of allowing Bennett to go to school a few days a week with Oliver.  Oliver thrived in his Pre-K 3 class, so we wondered if Bennett do really well there too.  However, our hesitation with regards to school has always been how to address this issue in the light of Bennett's Cystic Fibrosis.

Brian and I talked with Bennett's doctor about the idea of Bennett going to school this fall and we all agreed that a summer school program might be a good first option.  It would allow us to "test" how Bennett does in school before having to address our biggest fear: cold and flu season.

So, sending Bennett to school this summer is a trial run as we are most concerned with...
a.) if we can get out of the house in time for school considering Bennett needs extra time to eat breakfast in the morning and 20-40 minutes of morning treatments/medication
b.) if the school can appropriately address his special needs and administer his enzymes
c.) if Bennett will eat well enough at school that he doesn't lose weight.

Our hope is that if we can resolve some of these important issues during the summer, the main issue we will face in the fall is just keeping Bennett healthy and away from colds/flus.

These little "Inch Bug" nametags we bought for the boys water bottles work really wonderful for Bennett's enzyme bottle of medicine that sits on his teacher's desk each day.

The nice thing is that the boys' preschool has a little refrigerator in the room so we are able to keep his applesauce there.  Bennett takes a two enzymes and a spoonful of applesauce before each snack and lunch.  So far, they haven't had any trouble with giving them to him.

In Bennett's bag of "extra clothes" at school, we placed an extra g-tube and syringe.  The teachers have been wonderful with our request that they know how to change out of the g-tube in case it ever comes out.
It has been so lovely to see how the teachers have reacted to our new transition.  They love Bennett and are more than happy to do whatever it takes to make sure I feel he is safe and well cared for.

My most favorite day so far was one day last week when Bennett came home from school and had a nearly empty Lunchable in his lunchbox.  I had to ask the teacher if my eyes had deceived me.  Typically, Bennett returns home from school with his uneaten lunch so I can monitor how much he is eating.  This day, he had actually eaten almost all of his lunch.  I was shocked.  The teacher said she felt it was a combination of Bennett enjoying eating with his peers and some light encouragement from his teachers.  Brian and I were thrilled to learn Bennett might actually be eating better at school.

Overall, both boys are doing really great with their "summer school" program.  It's been really wonderful for me as it's one of the first times when both boys' needs seem more manageable than ever.  No longer am I simply trying to make it through the day.  Now, I am actually starting to look forward to what the future holds.  We have seen Oliver's anxiety go down tremendously in the last few months.  And Bennett's CF is fading more and more into the background (despite small hiccups here and there).

On a side note, both boys are showing signs they are growing up fast.  Oliver surprised us yesterday when the hair stylist who was cutting his hair asked him if he would count backwards from 10 and he did!  And Bennett, demonstrating his 2-year-old will in all of its glory, has become quite adept at communicating the word "no" but is also doing a very good job complying with our requests visit in the time-out chair when necessary.  Despite this, he frequently reminds us "I kind" to which we are usually able to reply, "Yes, you are being very kind and loving."

The boys, Brian and I played a round of "Hi-Ho Cherry-O" and Shape/Color Bingo today.  It's really delightful that even little Bennett can now join us playing a game as a family.  I'm really enjoying the fact that both of them are in the preschool stage.  As much as I don't want to see them grow up, I am thankful for our reaching a new stage in life where CF isn't a daily stressor and both kids can do so much more independently!

13 June 2012

A prized script

If you're in the CF world, you know what this is. It's a golden ticket.  For those who it might benefit, it fills one's heart with excitement!!  It's a prescription to Kalydeco!

I should preface this.  For those who don't know about Kalydeco (pronounced kuh-LYE-deh-koh), it is the "game-changer" drug recently approved by the FDA for those with a specific Cystic Fibrosis mutation.  For those who it benefits, Kalydeco has shown to arrest the CF disease where ever it is at that moment.  It is the first drug that treats the underlying genetic cause of Cystic Fibrosis and it's doing wonders for those who have the G551D mutation.

Bennett does not have this mutation.  He is not supposed to benefit.  (Bennett's mutations are 621+1G>T and DeltaF508.)

However, at my request at our last CF appointment, Bennett's CF doctor agreed to write him an "off-label" prescription for this medication.  She did so based on the fact that I have anecdotal evidence of at least three people with CF who have a splice mutation, like Bennett has, who improved with this medication.

The three people I know who have benefited from Kalydeco have seen, on average, a 10% increase in lung function and all report they feel significantly better while on the medication.  We don't know why it worked for them, but it did.  So, I suggested to the doctor, can we see if it might work for Bennett too?

When asked, Bennett's doctor's response was "Sure, why not?!"  This is because, of course, getting a prescription for Kalydeco is not ultimately the challenge.  The challenge is getting it covered by insurance.

Kalydeco costs $286,000/year or about $23,000/month.  That's around $400 per pill (and the medication must be taken twice daily).  At this point, it's one of the most expensive drugs on the market.  Clearly, insurance doesn't want to have to pay for this medication if they don't have to.

So, despite that both Dr. C, Brian and I all knew the chances of getting Kalydeco approved by insurance was slim to none, we felt it was worth a try.  It certainly wouldn't hurt.

Three other people with Bennett's mutation were able to get Kalydeco approved from anywhere between one month, to six months to having never been denied.  Maybe we would also have a chance to see if it works??

I sent off the prescription to our mail-in pharmacy through our insurance company and waited.

Two weeks went by and then, we received the letter:
"We are unable to approve this request for the following reason(s):...Coverage is not provided for use in patients who...have mutations other than G551D in the cystic fibrosis transmembrane conductance regulator (CFTR) gene."

So, what do we do now?  We think this medication might work for our son.  It might extend his life and arrest the disease in its tracks but we can't get our hands on it.  What do we do??

Nothing.  We can't really do anything at this point.  We face what so many in our Cystic Fibrosis community face: waiting until the FDA approves this medication for all those who might benefit.  Until then, we are just $23,000 per month away from being able to order it at our local Walgreens pharmacy.

And it's SO hard to deal with.  To know a medication might be able to help Bennett and not be able to get it...because it costs more for one year of pills than we make in an entire a year.  Without insurance approval, we have no choice but to sit back and wait.

We are one of the fortunate ones in many ways, though.

First, we have a chance it might work.  For so many with Cystic Fibrosis, they don't even have that hope.  They are having to wait for the next medication to come out of clinical trials.

Second, our son is little.  He has time.  For others, they are 14, 20, 32 years old with Cystic Fibrosis anxiously waiting for this medication to be approved by their insurance in time.  At least, we have 5 or 10 more years that we could wait, if we have to.

Hope deferred makes the heart sick (Psalms 13:12).  And, in this situation, I can feel how sick my heart is just having to wait.  It can feel so frustrating.

And yet, I am incredibly thankful and aware that just to receive a prescription for a medication that might help my son is much closer to a cure than most anyone with Cystic Fibrosis has ever gotten to before now. So many people have lived with the disease and not even had this type of hope.

The fact that we are so close, we can almost taste it, gives credit to all of those who have donated to the Cystic Fibrosis Foundation up until this point.  A cure is not far away.  We are just going to have to wait a little while longer.

So, maybe it's not be the sound of helicopter blades coming back.  But I am confident, I hear something.

(On that note, I loved reading this relevant blog post by CF Mama Rebecca recently.  She writes about her unique experience of having a son qualify and benefit from Kalydeco and yet still know so many who don't.  And, she tells what she knows about who else in our CF community just might benefit from this "game-changer" drug.)

07 June 2012

Bennett's Sweat Test

One of the most classic (and one of the oldest) tests to confirm the diagnosis of Cystic Fibrosis is the "Sweat Test."

This test, first created in the 1950's, measures the amount of sodium and chloride in a person's sweat. The higher the amount, the more likely someone may have Cystic Fibrosis.  (Notice Bennett's right arm.)

Bennett did not undergo this test at birth, like many do at the time of their diagnosis.  Instead, he was given a blood test/genetic test to confirm he has two genetic mutations for Cystic Fibrosis.  However, Brian and I decided we wanted to know Bennett's baseline sweat test scores as we are hopeful that Bennett will eventually have access to some of the new medications that are potentially coming down the pipeline.

Oliver watches carefully as the nurse prepares Bennett for the 45 minute test.

The sweat test reveals how much Cystic Fibrosis is "wreaking havoc" in the body.  For those who have mild CF, the test will reveal lower numbers than those who, like Bennett, have severe Cystic Fibrosis.

The sweat test is really interesting.  Because it's an older test, it's a bit intimidating to see.

The way the sweat test worked is the nurse washed and dried Bennett's skin on the inside of each arm.   Then, she placed two small gauze pads on the skin.

One pad was soaked in a medication called pilocarpine (which causes the skin to sweat).  The other is soaked in salt water.

Then, the nurse placed two small electrode pads over the gauze pads.

I thought the "example picture" on the instrument box were interesting.

These electrodes were hooked up to an instrument that produces a mild electric current which pushes the medicine into the skin.

Let's be honest, sorta creepy, if you ask me.

Just for the record, Bennett was none too happy.

We had to old Bennett's arm and wait during the test.

After 5 minutes, the nurse removed the gauze pads and electrodes and replaced them with a dry gauze pad to collect the sweat.  In Bennett's case, a fiberglass casting tape, was wrapped over these pads to provide fluid loss.

We waited for about 30 minutes on each arm for the sweat to collect.

The nurse wrote the time we had to return per arm.  Eleven fifty-one a.m. was our time to return on Bennett's right arm.

Thank goodness of the ipad.  It helped tremendously in distracting him the entire time the electrodes were going and for the 30 minute wait on each arm!

After the test, the nurse was able to remove the pads and place them in a sealed bottle.  It was weighed to measure how much sweat the skin produced.  Then, it was checked to find out how much sodium and/or chloride the sweat contained.

Bennett's arm was red and a bit swollen after the test but it went away about an hour later.

If Bennett's sweat chloride levels had come back less than 39mmol/L, it would have indicated that Cystic Fibrosis is very unlikely.  If Bennett's sweat chloride levels had come back between 40-59 mmol/L, it would have meant that Cystic Fibrosis is possible.  Any amount more than 60 mmol/L indicates Cystic Fibrosis is highly likely.  No surprise to us, when we got Bennett's test results back a few days later, they were 122 (left arm) and 114 (right arm).

Thankfully, Bennett recovered just fine from his test and is feeling much better now.  Now to try to get him on some medications that are going to save his life so we can begin to see these sweat test numbers go down!!

04 June 2012

The Sound of Helicopter Blades Coming Back?

Could this really be the sound of helicopter blades coming back?
I've shrugged it off a few times.

"It's probably just a train."
"It's nothing."
"Just a bunch of noise."

My heart has not wanted to make any sense of the stirring happening around me.

It wasn't until recently when my friend and fellow CF Mom (who lives states away from me) figuratively grabbed me by the collar, looked me in the eyeballs and said "Seriously! Pay attention to this noise!" that I finally began to listen.

A while back, this mom told me about a blog about a young woman with CF who had been able to get the new "game-changer" CF medication Kalydeco off-label.

("Off-label" means using a medication even when it has not been formally approved for use by the FDA for this situation.  In Bennett's case, the FDA has not approved Kalydeco for his mutation.  But if the doctor believes it will help him, even though it has not been FDA approved for his specific mutation, it can be prescribed.  It's just considered "off-label".)

I'm the type of person that hates to be disappointed.  So I didn't pay much attention to this young woman's experience at first, despite that she (and apparently two other people with Bennett's mutation) experienced a 10-15% improvement in their FEV1 (a lung function test) while on Kalydeco.   

But, then, months later, this mom contacts me again to tell me her daughter was also able to get Kalydeco off-label for one month.  Her daughter, who has the same genetic mutations as Bennett and used Kalydeco for a month saw her lung function improve from 46%-57% in 28 days (the highest she had seen in three years) and her sweat chloride dropped by 30 points, from 107-79.

When I spoke with one of our CF doctors at our clinic about it, the doctor mentioned she had heard of another story of someone in our clinic who was able to get Kalydeco off label and benefit.  Our doctor mentioned that she doesn't know why or how this medicine is working for those with Bennett's mutations as it's not supposed to but that even she doesn't know exactly how the medication works.

And that's when I said, "Holy cow.  I'm ready to believe it."

The reality is we don't know yet know exactly who will benefit from Kalydeco.  All we know right now is G551D patients do - because that's the only trial that's been done.  But that doesn't mean that others won't.  In fact, doctors have been looking for others with similar gating mutations and contacting them about the possibility that they may qualify.

So, if this was the sound of helicopter blades, the sound of the helicopters coming back for the rest of us, what does this mean??  What should I be doing to prepare, to be ready??

Here's where my attention has gone next:
1.) I am learning all I can about my son's genetic mutations and staying on top of the latest research about his mutation.  I am becoming knowledgeable in my son's mutation class and how his specific mutations are classified.  

A few ways I am doing that is through:
* Downloading the free Cystic Fibrosis Vertex App
* Reading about his mutations on
* Arranging a Google Alert for each specific mutation.
* Joining several Facebook groups online (such as "Waiting on VX-809 or 661")

2.) I am trying to stay in touch with other families with his mutations.  Personally, I have done this by created a Facebook group and blog for Bennett's mutation.

3.) I am watching carefully for trials involving my child's mutation, particularly if we can participate in them.  The websites I use are and

4.) I am working with our Cystic Fibrosis doctor to do any baseline testing should a trial open or a new medication become available to us. 
5.) I am making efforts to keep Bennett as healthy as possible for the day when a medication that can help is within reach.

I firmly believe that it is no longer "if" the helicopters are coming back but "when."  Maybe this is the sound of the blades coming back?  I'm trying to position ourselves ready to jump aboard the minute they get close!!

03 June 2012

Feeling Better!

Playing at the table in his pajamas.
Bennett is doing really well since his last scary episode with a respiratory infection.  His throat culture came back "clean" but even the doctor is suspicious the culture wasn't reliable this time (we believe the test may have been given incorrectly).

Since Bennett has cultured Staph before (something most CFers culture), Bennett is on a round of Azithromycin, five days of Prednisone and is being monitored closely.  His cough, runny nose and general feeling of yuckiness has improved dramatically, giving us confidence that he is fine.  (That virus was a nasty one, though.  Wow.)

Brian and I are still talking ourselves down from the ledge. We were surprised at how quickly his health deteriorated during this virus. He went from a slight runny nose to coughing fits, a constant state of crying, no interest in eating, and waking up at night panicked because he couldn't breathe.

Thankfully, though, I think we are out of the woods...for now.

Practicing his Pre-K handwriting skills at home.

Working hard on his "handwriting skills" like big brother!