Kalydeco......It May Just Help You!! Part 1

There are many of us in the CF community who have heard of Kalydeco, the magical pill and the Vertex Pharmaceutical Company by now. But if you have not heard about this because you have been living under a rock or are not that familiar with the exciting pill here is some background on Kalydeco. 

Kalydeco is the first drug available that targets the underlying cause of CF.  All the other therapies available for CF treat the symptoms of the disease.  So this pill is a real breakthrough!  Kalydeco improves the faulty gene and its protein product, CFTR.  As we know Kalydeco, is only approved for use on individuals who have the G551D mutation.  CFers who have the G551D mutation have the defective protein in the right place on the cell surface but it does not function correctly.  Instead, it acts as a locked gate which prevents the proper flow of salt and fluid in and out of the cell.  So what Kalydeco does is it unlocks the gate and restores the function of the CFTR protein.  This allows for proper flow of salt and fluids on the surface of the lungs.  By allowing the proper flow of salt and fluid, the mucus in the lungs is less sticky and thin. 

Kalydeco is not a cure in any means but it is something that will prolong life for years to come in my opinion.  In fact, the pill has shown to improve lung function, lower sweat chloride levels which in turn has lowered sweat test results, and has also helped individuals gain weight.  Basically, the people who have G551D mutation and are taking Kalydeco are living what I would call a “CF free symptom” life or mostly symptom free life.  But the thing is that Kalydeco has only been found effective so far to help G551D mutation which is about 4% of the CF population or slightly over 1,000 CFers. 

So what about all the rest of us who do not have a G551D mutation?  Well there is hope and it is really exciting to be reading about the research that Vertex has been doing.  For most of us in the CF community we have at least one copy of mutation DF508 and that is where a lot of the research is being focused on the DF508 gene more so individuals who have two copies of DF508.  The problem with the DF508 mutation is that the defective protein is not at the correct place on the cell surface and the gate is locked for the proper flow of the salt and fluid in and out of the cell.  Whereas the G551D mutation has the defective protein, CFTR in the right location but the gate is locked.  So in order for Kalydeco to work on individuals who have the DF508 mutation the cell needs to move the CFTR to the cell surface and open the gate.  We know that Kalydeco can open the gate but Vertex is still working on getting the CFTR up to the cell surface.  In fact, they have released some exciting data on moving the CFTR to the cell surface with a pill called VX-661 and VX-809 and then opening the gate with Kalydeco.  Here is the link for the news release for the the results of VX-661 and Kalydeco.

http://www.cff.org/aboutCFFoundation/NewsEvents/4-18-Phase-2-Combo-Study-Kalydeco-VX-661-Results.cfm

It looks like there will be a more clinical trials for both VX-661 and VX-809 and Kalydeco.   In the VX-661 study it has shown to have improved lung function by a whopping 9% and lowered sweat chloride levels in individuals who have two mutations of DF508 which is the most common CF mutation.  This is really really exciting and looks like the magical pill(s) will be looking for FDA approval in the near future.  I have heard as soon as 2014 that Vertex will be submitting and looking for FDA approval on VX-661 and or VX-809 and Kalydeco for individuals who have two copies of DF508.  I cannot wait for this day!!!

Ok, but wait there are still a good amount of CFers who do not have two copies of DF508.  In fact, I am in that boat.  But I truly believe if this VX-661 and Kalydeco combination will work on two copies of DF508 then it will work on people who have just one copy.  They may have to play around with the dosage and strength to get a “perfect” mix but it is going to happen, I know it is!

 

But my main reason for writing this blog today is to talk about some exciting things I have read about Kalydeco and possibly helping other mutations.  I became aware of this through a forum I read and leave comments on.  While scrolling through a couple forum posts I found one that interested me big time.  It had the wording of Kalydeco and 3849+10kbC->T.  I decided I better read this because I have one gene mutation of DF508 and the other is 3849+10kbC->T. In fact I even found a Facebook group that has members who have my same gene copies, WOO HOO!  When I started reading this forum and Facebook posting I couldn’t believe what I was reading.   I think this was one of the greatest finds I have ever found online and I am so excited that all my time and effort on forums is going to help me possibly.  As Maria says, I am addicted to anything CF related online and I guess this time it really is going to pay off. 

So here is what I have been spending a lot of my time reading and not blogging lately.  But I guess I have good reason!  I honestly, thought all along that Kalydeco could help me and my one gene 3849+10kbC-> because this gene does produce functional CFTR at the cell surface but the quantity of CFTR is affected.  I even asked my doctor when Kalydeco first made it to the market if it could help me or other genes.  His answer was that is the big question.  Well I think I am finding out the answer to my question and I CANNOT BELIEVE what I am reading.  Apparently, there is an actual research study that is being conducted at a Denver Colorado hospital testing the effect of Kalydeco (aka Ivacaftor) on lung function in subjects with CF that have residual CFTR function. My  3849+10kbC->T gene is in this group.

On the facebook page that I belong to, I was reading that Kalydeco is really helping people with my CF combination.  There are a few people who are in the study and another mom who has traveled from Italy to the USA to get her son on Kalydeco.  I honestly could not believe what I was reading.  The mother from Italy had said that her son’s FEV1 increased by 7 or 8 points and he was able to gain a good amount of weight.  I have also read that some people in the Denver study have also seen their PFT improve while on Kalydeco in the study.  All of this is really hitting home for me that the magical pill is within reach very very soon!

There are also other mutations that the Denver study is enrolling. In fact here is a list of the mutations that they are testing Kalydeco on and some of you I know who read this blog have a copy of one of these gene mutations.  CF Stinks I know you can participate in this study!!!  

 

CFTR Mutations associated with residual CFTR function or defective mRNA splicing include the following:

R117H, E56K, P67L, D110E, D110H, R117C, R347H, R352Q, A455E, D579G, S945L, L206W, R1070W, F1074L, D1152H, S1235R, D1270N, 2789+5G->A, 3849+10kbC->T, 3272-26A->G, 711+5G->A, 3120G->A, 1811+1.6kbA->G, 711+3A->G, 1898+3A->G, 1898+1G->A, 1717-1G->A, 1717-8G->A, 1342-2A->C, 405+3A->C, 1716G/A 1811+1G->C, 1898+5G->T, 3850-3T->G, IVS14b+5G->A, 1898+1G->T, 4005+2T->C, 621+3A->G, 621+1G->T

This link contains the clinical trial for the experimental Kalydeco below. http://clinicaltrials.gov/ct2/show/NCT01685801

So to summarize this very long post it looks like there will be a magical pill possibly for residual CFTR function.  The results of the Denver study will be posted in September 2013 which is very soon.  But if anyone wants to enroll in the Denver study they are still accepting patients.  It really is to bad that they are only offering this study in Denver.  But I have heard that Vertex Pharmaceutical will pay for your expenses to attend this study. 

I will leave with you a to BE CONTINUED blog because I still have not said if I will be participating in this study. I also have some other information on this study to summarize but I figured I better end it here.  So for anyone who is interested in this study or would like to know if I will be participating in this study let me know if you would like Part 2.  

 

 

 

Alayna at her 6 month checkup!

 

Alayna in her high chair for the first time!

 

Alayna 6 Months Old Today!

Today is a special day for you Alayna and for mommy and daddy! You are 6 months today! WOW, a half a year is in the books for you! I honestly cannot believe it has been 6 months since you have taken your first breath on this planet.  Where has the time gone?  Alayna, you have already enriched our life for the better every single day and we are so overjoyed to have you in our life.  One day, you will understand how precious of a child you truly are to us.

This past month you celebrated your first Easter.  In fact, you also dyed eggs with mommy and daddy for the first time.  You had no idea what was going on but you were diligently watching your cousin Kendal dye the eggs.  The Easter bunny did stop by your house and left you a basket full of baby teething toys, books, and clothes.  Your basket even has your name on it!!  Talk about a spoiled kid you already are.

You have accomplished a few milestones this month. In fact, you are growing up faster than I could have ever imagined.  Alayna, you know have two little teeth on the bottom and you let us all know you were cutting teeth.  We were shown that you can be a fussy baby but this is not a common thing for you.   You kept shoving everything and anything in your mouth to ease your pain.  I think you were going to draw blood on your thumb or toes because it seemed like that is all you wanted to do was suck your thumb or toes.  You never did get a fever though which was surprising but all you wanted to do was sleep, eat, and suck your toes and thumb.  Since you now have these two little teeth, your smile is always showing these little pearly whites.  It is beyond adorable.  Mommy and I both love your smile.  We have been told that your smile is your daddy’s.  You even have dimples just like me! In fact, people say you are daddy’s twin.  I hope that does change in the future though : )

Well know since you have these two teeth, we figured it was about time to introduce another food besides breast milk.  We have noticed you were getting fussier and fussier in these past few days and mommy and daddy thought maybe you were wanting more food.  It turns out you really were telling us you were ready to eat some food.  On April 12, we fed you for the first time with a spoon!  You had rice cereal for the first time that day.  You loved eating from the spoon and of course had no problem with swallowing the food.  Every time mommy would get the spoon full of rice cereal she would say “ here comes the airplane” you would get the biggest smile on your face.  In fact, once the spoon left your mouth you would take that right thumb of yours and put it straight into your mouth.  You had the cereal all over your face and all over your hand.  Alayna, you did not even care that it was everywhere either.  You just had a big smile on your face like you were asking for more cereal. 

On April 14, we decided to try actual baby food with you.  We got the jar of peas out and that first bite we knew you loved it.  You had a big smile on your face and held your arms out as to ask for more!  It seems that you prefer the baby food over the rice cereal because you ate the peas in no time.  Again, you did the same thing with your thumb.  As soon as the spoon was out of your mouth your thumb was right in your mouth.  You had another big smile with peas covering your mouth. ADORABLE!

Alayna, you seem to be getting bored just sitting in your chair or laying on your back on our bed or on the floor now.  We read that this would start happening in this time frame.  Sometimes, I will lay you down in your crib to get the diaper area prepared to change you and you will scoot yourself on your back to one side of the crib.  When the butterfly mobile is on your crib you will scoot to that side and try to grab the butterflies and pull them down.  Or you will roll from your back to your belly in the crib and just babble. 

You love to sit in this little rocker baby chair.  Just recently, you started to get bored in there and you decided that you can entertain yourself while sitting there.  One day mommy noticed you were rocking the chair all by yourself.  We both were shocked.  In fact you rock the chair like you are swinging on a swing.  You start to pump your legs and away you go with that big smile and happy voice.  Alayna, you already have one heck of a personality!

Speaking of personality, I will share a story about you that one day will embarrass you.  But it was really funny to witness this.  The other day we had you on our bed and mommy and daddy were talking and all of a sudden you pass gas! Mommy and I both looked at you as it was really loud and you turned your head to us with the biggest smile.  Your grin was from cheek to cheek.  I don’t know where you got that loud passing gas aspect from though!  I know one day when you read this you will be embarrassed but that is what a parent does, embarrass their child. 

There are a few things that you continue to dislike.  For one, you really seem to be developing a sense of boredom.  You will let us know if we are not paying attention to you enough by fussing or crying.  Then mommy or daddy will give you attention or pick you up.  If you are hungry you will let us and everyone else know how hungry and mad you are if you are not fed right away.  Also, when it is late at night, and you are passed out a sleep you hate it if we change your diaper.  You get this cry like it is the end of the world.  But for the most part you have very few dislikes right now in your life and WE hope that stays this way for a long time!

So with 6 months in the book we could not be happier in our life.  Mommy and daddy both could not imagine life without you EVER! There is just something about having you in our life that completes it. 

WE LOVE YOU ALAYNA! HAPPY HALF A YEAR BIRTHDAY!! 

Rice Cereal!

After the spoon is out its thumb sucking time.....

Time for some sweet potatoes. 

Look at that big smile and two little front teeth!!! 

 

 

 

Hypertonic Saline Anyone??

We have heard the benefits of going on vacation as a form of relaxation and a way to recharge the batteries and also how vital it is for our health.  But to be honest I didn’t realize 10 years ago how beneficial going to the beach was especially for someone with CF.  I would tell Maria I feel differently when I am at the beach.  I claimed I could breathe better and my lungs felt less tight.  I kind of just assumed it was because of being less stressed and I was getting more relaxation time in.  But I started to think more about this and I thought the benefits I was receiving were from the salty air.  It turns out I think I was on to something and I wasn’t making up the way I felt by being by the beach.  I told my doctor how I felt when I was at the beach and he told me that researchers were looking into the benefits of breathing in salty air.  This story takes place about 10 years ago before hypertonic saline was invented for CF.  I guess I could have been a researcher!

The research into the benefits of breathing in salty air started from surfers in Australia who told their CF doctors that they felt better after surfing.  That their lungs and chest felt so much clearer once they surfed.  In 2006, there was an article published in the New England Journal of Medicine detailing the research and the findings from breathing in what is now called hypertonic saline.  The conclusion was inhaling hypertonic saline produced acceleration of mucus clearance and improved lung function.  The researchers also found that this treatment may protect the lungs from other bacteria and infection and prolong lung function.   They also discovered that hypertonic saline solution was also helpful in limiting the number of lung exacerbations.

http://www.nejm.org/doi/full/10.1056/NEJMoa043891#ref19#t=article

As I stated I guess I was not dreaming of how I felt when I was at the beach. In fact, there are some other cysters and fibros who feel the same way I do.  Check out this forum site to see what others are saying about living by the ocean.  Maybe we all should move to the coast???  Maria and I really thought about moving to North Carolina to live by the beach.  It may happen one day :) 

http://www.cysticfibrosisconnect.com/discussions/690-is-your-life-expectancy-longer-if-you-live-by-the-ocean

So anyway, I really really LOVE HYPERTONIC SALINE! I guess that would be an understatement though because I truly feel a lot different since I have started this lovely salty solution.  But before I get into more details about how I feel I would like to give a little explanation of how this salty solution works for those of you who are not currently using it. I hope you consider using HTS if you have never tried this before.

First off I am not a doctor or a trained sales representative for HTS so here is my own explanation.  As we know in CF, the lung tissue in our body has abnormal transport of the chloride and sodium which leads us to have thick sticky mucus.  Basically our lungs are not hydrated enough at all due to this abnormal transport.  So when we breathe in aerosolized hypertonic saline, the saline which we breathe in has a much higher concentration of salt than normal body fluids. The saline draws water from the cells into the airways making the lungs hydrated.  This extra hydration mixes with our mucus and makes it thinner and easier to cough out.  As my wife says it’s like brining a chicken or turkey!   No wonder why I love salty foods!

I started using HTS about 8 months ago as my doctor suggested giving it a try after he was persuaded by one of the founders of this magical stuff.  I can honestly say I wish started using HTS a long time ago because I feel a lot different.  My lungs are so much clearer and I no longer have chest tightness at all.  As far as HTS improving my lung function, it has slightly.  I am talking a few percentage points in the FEV1 range which is good but the biggest thing is that I have not really dropped my FEV1 score since I started it.  Also, I have not been on any inhaled antibiotics for over a year now and I can point to HTS being a big player in that solid streak.  Since I do not live by the ocean HTS is the second best thing to the inhaling of true salty air.  Maybe we could convince doctor’s and insurance companies that we need quarterly trips to the beach!! But until that day does happen I will be using HTS everyday.  So for those of you who are not currently using HTS maybe you should talk about adding it to your airway clearance regimen when you go to the CF clinic.  

Here is what the cystic fibrosis foundation says about HTS.
http://www.cff.org/treatments/Therapies/Respiratory/HypertonicSaline/

Thumb sucker!

Passed out!