Monday, November 28, 2011

Mutation Matters

I want to use this blog to revisit a topic that was featured in so many different talks at the NACFC this year--Individualized medicine.  As more and more is learned about the genetics of cystic fibrosis, researchers are learning that each person's case of CF is truly unique.  This "genetic signature" is the product of your CF genotype plus a slew of other modifying genes.  At the Vertex Pharmaceuticals booth, they were giving out all sorts of awesome info on CFTR science and classes of mutations.  Inside one of these books, they discuss this information as a "Call to Action" to our physicians to review their knowledge of CFTR science, and embrace the new idea of using genetic mutations as a guide individualized treatment for each CF patient.  Then it dawned on me...this is new for everyone, patients and doctors alike.  With these big chages on the horizon, I think it is more important than ever for CF patients and families to be involved with their care team and stay in the loop about new research information.  I also realized that I blogged in some detail about the misfolding problems associated with the DF508 mutation, and that it might be a good idea to pull back a little and really break this mutation business down.  Let's talk about mutation classes and CFTR function.

I learned that there are have found close to 1900 different CF causing mutations.  There are many individuals that have one common mutation and another extremely rare one.  Many older patients may not have any genotype information, as it wasn't part of the diagnosis protocol 20 years ago.  Many other patients might have that genotype info sitting in their chart somewhere, but it never really useful information before. Now is the time to figure it out. 

The CFF and Vertex both divide CF causing mutations into 6 classes.  Mutations within each class have a similar CFTR dysfunction.  When assessing CFTR function, researcher basically examine two aspects:

1) How much CFTR reaches the cell surface
2) How much Chloride transport activity the existing CFTR exhibits. 

Researchers believe the key to controlling this disease is to increase the amount of functional CFTR for each patient using small-molecule drugs (like VX-770).  They believe if they can activate 20-30% function, that they will see a significant drop in clinical symptoms of CF.  They really hit the jackpot with VX-770, which activates about 50% CFTR function in G551D patients.  In essence, when Brady is able to take this drug, he will achieve about the same level of functional CFTR that I have as a symptomless carrier--50%. 

I want to make one important point before moving along to the mutation classes.  In new information being published about CF mutations, as well as in the CFTR2 project, you are going to start seeing genotype-phenotype correlations.  In other words, they are attempting to make correlations between CF mutation and clincal presentation of things like pancreatic sufficiency, liver disease, CFRD, etc... These correlations were made by performing a statistical analysis on National Registry (and European) data and is NOT MEANT IN ANY WAY TO BE USED AS A TOOL TO PREDICT INDIVIDUAL OUTCOMES!  Basically, if you are in the group that has little to no functional CFTR, you will see associations with more CF complications.  If you are in the groups with some functional CFTR, there will be fewer associated complications.  I encourage everyone to visit and watch the archived Plenary Session 2, entitled CFTR2, from year's Conference.  They describe exactly how these correlations are made and how they might be used.  For some variables like pancreatic sufficiency, they are able to use genotype to make a fairly accurate prediction about whether or not a patient will need enzymes based on their genotype.  For other variables, especially lung function, the correlation is very weak (their own words!).  In fact, I sat through a talk at the Conference all about how siblings or even twins with the exact same genotype and environment can have drastically different cases of CF.  In other words, DO NOT FREAK OUT ABOUT THE CLINICAL ASSOCIATIONS.  Think of it as a snapshot of what has happened in the past--not a tool for predicting the future.  Modifier genes (that might affect the body's inflammation response, cell death, etc...) and countless other non-genetic factors(age of onset of chronic infection, level of care, nutritional support, exposure to secondhand smoke) all play a role in determing clinical variability.  Honestly, I don't pay much attention to the clinical associations.  I'm much more interested in the TREATMENT ASSOCIATIONS!

Ok.  Here we go.  This can be extremely confusing because some people call the classes by numbers.  Other times you might here jargon related to the CFTR dysfunction like, "gating," "deletion," "non-sense," etc...

Class 1 (Nonsense, Stop, X-mutations, premature splice mutations)

Mutation Effect:  Protein synthesis defect causing failure to synthesize full length protein

Cell Surface Expression: Little to no functional CFTR

Channel Function: Little to no function
Example Mutations:  W1282X, G542X, R553X, R1162X, 2184delA, 3659delC, 621 + 1G-T,  711 + 1 G-T, 1717 – 1 G-A, 1898 + 1 G-A

Clinical Associations: Related to more complications of CF like MI, PI, liver disease, etc…

Class 2 (Misfolding/Trafficking, Deletion)

Mutation Effect: Protein processing defect often resulting from improper folding and trafficking to cell membrane.

Cell surface expression: Little to no functional CFTR

Channel Function: Little to no Chloride channel activity

Example Mutations: F508del, N1303K, 1507del, R560T

Clinical Associations: Related to more complications of CF like MI, PI, liver disease, etc…

Class 3 (Gating, Missense)

Mutation Effect: Defect in regulation impairs opening of channel.
Cell Surface Expression: Normal quantity of dysfunctional CFTR at cell surface.
Channel Function: Little to none
Example Mutations: G551D, G551S, S1255P, G178R, G970R, G1244E, G1349D
Clinical Associations: Related to more complications of CF like MI, PI, liver disease, etc…

Class 4 (Channel, Conductance)
Mutation Effect: Insufficient amounts of Chloride move through the channel
Cell Surface Expression: Normal quantity of dysfunctional CFTR
Channel function: Some
Example Mutations: R117H, R334W, R347P
Clinical Associations: fewer CF related complications

Class 5 (Splicing)
Mutation Effect: Splicing error causes variable synthesis of protein, CFTR is produced in smaller than normal quantities.
Cell Surface Expression: Some (variable) functional CFTR at the cell surface
Channel Function: Some
Example Mutations: 3120 + 1 G-A, 3849 + 10 kb C-T, 2789 + 5 G-A, A455E
Clinical associations: fewer CF related complications

Class 6 (Stability, Protein truncation)
Mutation Effect: CFTR degrades too fast.  Not enough functional protein present. Protein truncation causes increased cell-surface turnover.
Cell Surface Expression: Unstable
Channel Function: Some
Example Mutations: 4326delTC, N287Y, 4279insA

Clinical Associations: fewer CF related complications

Learn More
Until CFTR2 goes online sometime next year, I think the best resource out there is the website associated with Vertex called
You can go to this site and watch animated videos showing the unique dysfunction that different classes of mutations exhibit.  You can page through amazing slide presentations with all sorts of great graphics.  You can go to the "educational resources" tab and request that they send you all the booklets that they gave your Dr. at the Conference this year.  I have been geeking out hard on this website and I hope everyone takes the time to pay them a visit.  This is basically the tool that they are using to educate/refresh the memory of CF physicians about CFTR, so let's see what they are learning!  Of course, you can always go to and do a general search for mutation classes.  This will bring up a short 2 page article about Targeting CF Mutations and is a lot less technical.  In closing, I think this information is crucial for patients to embrace because it is a huge change for Doctors to approach CF care this way.  Genotype information is going to be crucial to find and enroll in the huge number of mutation specific clincal trials coming our way.  My hope is that everyone gets to obsess over their mutation specific therapy as it comes down the pipeline, as I've been able to do with VX-770 for Brady.  I will never forget the day that I first read about VX-770 (Brady was an infant).  I had to go to Brady's medical information file and dig out a letter that listed his specific mutations (they were nothing but a jumble of letters and numbers to me before). 
All of a sudden, it became significant.  Extremely significant.  I believe now, more than ever that they are on track to developing drugs to control CF like VX-770, for other classes of mutations.  MUTATION MATTERS!


What if my insurance doesn't want to cover genetic testing?
--The CFF is planning a patient assistance program to help cover genetic panel costs.  This program is set to begin next year, alongside CFTR2

What if I had the test, but they only identified 1 of my mutations?
--Of course, it is best to know both mutations, but knowing only 1 is much better than knowing none.  In the case of VX-770, only a single patient in that trial was homozygous for G551D.  In other words, they were treating only one of each patient's mutations and still had great success with treatment.  Also, as more mutations are discovered, those genetic panels will include more and more mutations...increasing the chances that they will be able to find that elusive second one.

I know both my mutations, but didn't see them listed in the example mutations
--With close to 1900 CF mutations, this represents just a small fraction of them.  Please ask your Dr. to help you determine which class and the specific type of CFTR dysfunctions that are associated with your mutations.   

Sunday, November 6, 2011

More hope than you can shake a stick at

Ok.  I've been reading a lot of questions about hope for other mutations, like F508 to see a great control drug similar to VX-770.  I know people are scared that the VX-809/VX-770 combo might not work and that it will send us back to the drawing board, tacking years and years onto the waiting time for a real change for that population.  I completely understand that concern and I feel like I need to try harder to make it clear how much hope you should have that this WILL HAPPEN.
Drug Discovery: High through-put screening
VX-770 was discovered through a process called high throughput screening, which is a technology powered with robots and supercomputers to scan a huge number of compounds very quickly.  They look for molecules that perform specific actions (like opening the gate for chloride ions in the example of VX-770) Before high throughput screening, researchers might be able to screen, let's say 100 compounds a year with old school techniques.  I'll go back to the burned out light bulb analogy I used before.  If you had to check every light bulb on the planet to discover a single burned out bulb, you would never find it in your lifetime...or in a million lifetimes.   High throughput screening changed the face of medical research.  It enables millions of compounds to be screened, in a relatively short amount of time.  Now, instead of going one light bulb at a time, they can check entire cities or even States at once.  It improves your chances exponentially.  Researchers will typically get their hands on a collection of compounds that someone sort of "owns."  Nearly all of the compounds being screened have never been used for any type of therapeutic purpose.  Remember, we are talking about millions or billions of potential compounds.  If a molecule is found that makes a little blip on their graph, they isolate it and take it to the lab.  This is where they tweak it chemically to see if they can turn that little blip into a big blip(bigger positive effect).  Then they can start testing it in the lab on epithelial cells to see how it affects the function of things like the cilia (those little hair like projections that sweep particles like bacteria off the surface of the cell.)  After lots of tweaking, the clinical trials process begins.  This is exactly what they did with VX-770.  

Other mutations:
One thing that blew me away at the Conference was how many other correctors already exist and are being tested.  We aren't just talking about the Vertex compounds here.  They have already discovered many (probably tens or hundreds) of compounds that make those initial small blips.  In some of the talks, I would see a slide present 10 correctors I had never ever heard of and how they are working(or not) to fix those two F808 misfolding problems I mentioned in an earlier blog.  They are also in the process of screening already existing drugs to see how they act on mutations. They have found some compounds that exibit corrector action for F508.  This is directly from something presented at the conference:

"We constructed a novel high throughput cell based assay to test the ability of small molecules to restore F508 CFTR trafficking to the plasma membrane.  In a screen of known drugs we identified the non-steroidal anti-inflammatory (NSAID) drug Ibuprofen.  Ibuprofen has previously been reported in small-scale clinical trials to improve the symptoms of CF and prolong lung function in CF.  However, this is the first report of ibuprofen being a corrector for CFTR.  Ibuprofen increased the cell signal up to 27% of wild-type signal." **Disclaimer-Talk to your damn Dr. before you run out and start an ibu regimen!  This is a trial!

Also remarkable is that they are finding a wide variance in how people with F508 respond to corrector compounds.  They will have a population of double F508 having a wide range of responses...some very good, indicating that there might be other genetic markers at work, making it more therapeutic for that subgroup.  So what I'm trying to say is that even if the VX-809/VX-770 combo isn't the magic bullet, it might be for another small subpopulation of F508 that have other genetic markers that enable it to work better in them.  What I'm saying is that if VX-809 doesn't work, there may be another compound already approved like ibuprofen that might be able to be combined with a potentiator and shave years off the clinical trial process.  I'm saying any one of those little blips might be tweaked just right and shoot the efficacy through the roof.  I'm screaming that the combo of two corrector compounds working synergistically on the two misfolding sites for F508 has been shown in the lab to restore up to 60-70% function in some cases(that is above and beyond how well VX-770 works for G551D)!!  I'm reminding you that with big time companies like Pfizer getting involved, they are bringing with them the databases of compounds that they own to be scanned for previously undiscovered treasures.  I believe with all my being that there is more hope about fixing this than you can shake a stick at!  I read one question the other day that prompted this blog and it was something like, "Someone tell me if there is any hope for F508 and I need a simple answer."  All I could think was, well do you want an answer or not, because it is not simple any way you slice it.  I realize that trying to understand the research can be daunting, but it is impossible if you don't even try.  I guess I just think it is worth it because the place (in my head) where I live now is where I wish you all could be. I'm not trying to sugar coat this or string anyone along.  This is something I believe with all my heart. You know, when VX-770 was in early development, everyone thought I was crazy for believing it could work.  I don't think I need to tell you who got the last laugh.   I cannot wait until next year's Conference in Orlando to see where they have taken this...I have no doubt that there will some failures, but more importantly...there will be some successes!  I think they are so far ahead of where many of the families seem to think. 

Just for fun, I'm posting a picture of a model of the CFTR protein.  It looks complicated, doesn't it?  My recommendation to you is that you join me in hope.  Please join me in believing.  I realize not everyone loves chemistry as much as I do, but isn't it worth sitting though a few lousy science classes if it gives you a ticket to that place in your head where you believe everything is alright??  And I hope I've made it clear that I'm happy to help/translate with this kind of info or help find someone else who can if I don't get it either.  It isn't simple...but WOW is it worth it!

Saturday, November 5, 2011

Honor the gift

Let me preface this entry by saying that today I am feeling so tired, so I hope this makes sense.  In other words, the day after day of being super excited and not sleeping or eating normally is catching up to this old lady.  I am a pretty emotional person also, and the last few days have been quite overwhelming.  About 10 o'clock this morning, I hit a wall and thought I was going to just pass out in the hallway...Fortunately, the very next presentation I saw was about VX-770 and apparently that particular subject works like crack for me.  I see a big crash coming soon and as amazing as the last few days have been, I miss Brady, my husband, and my juicer.  I don't have a lot of time to write before the closing events this evening so I'll jump right in.

Plenary session: Pulmonary Exacerbations
1st of all, the drug development pipeline has been updated and changed format on the website.  It contains more information than ever before and I encourage you to explore the new, more interactive format.  The pulmonary exacerbations talk first went into the difficulty of defining what exactly constitutes an exacerbation.  They would like to establish a standardized method of identification and treatment among care centers.  Currently, the protocol of treatment almost always includes a round of either oral or IV antibiotics.  Seems logical, but data showed that in many cases, bacterial growth rebounded right back to pre-flare-up growth levels within a short time after treatment, even when FEV1 had increased, which begs the question: Is this the right course of action?  They also addressed questions about how bacteria move or migrate throughout the airways.  Do infections "slough" off one area of the lung and migrate to another?  How do they spread and disperse?  Also, which bugs (of the many they may see in culture) are the real trouble makers in terms of destruction of lung function?  This talk presented a ton of questions, but not many answers.  It was actually pretty surprising to me that so little is known about what causes pulmonary exacerbations and how to treat them.  The speaker presented question after question about exacerbations and ended up with a slide that read exactly "We know a little more than Jack."  As in, we know slightly more than jack shit about this and we need more studies.  They have lots of ideas for learning more about this basic concept of risk factors that promote exacerbations and the most effective ways to treat them.  They hope to learn from COPD exacerbation model and continued research projects are underway. 

Next, I attended a talk about Key Advancements along the CF Drug Development Pipeline.  They described what went wrong with Denufosol(an inhaled treatment that attempted to correct for CFTR dysfunction by activating an alternate channel (calcium channel) to transport chloride ions.  In short, the trials were poorly designed and seemed to use some pretty creative statistical analysis to get as far as they did in trials.  This talk felt sort of like an apology.  Next up, they commented on where we are with Bronchitol.  Bronchitol has already been approved for use in Europe, and is thought to have a similar line of function as Hypertonic Saline.  Rather than inhaled salt, Bronchitol is a large molecule sugar alcohol that comes in the form of an inhaled powder(Similar to Advair, which saves a ton of time with a single inhalation vs. 30 or so min on neb with Hypersal).  They plan to get this drug approved in the US soon, but they weren't sure when.  They also couldn't comment on its efficacy above and beyond what is seen with Hypersal.  In my mind, if it works as well as Hypersal but can be taken in a fraction of the time, it would improve quality of life enough to make it worth it.  I'm sure we will be hearing more about this soon here in the US.  This is where I hit that wall I mentioned earlier.  Fortunately, next up was the data about VX-770.  There was no new data, but rather a review of the trials that led to the FDA application.  You would think that I would be getting used to seeing these stats by now, but something about those graphs on those huge projector screnes of dramatically dropping sweat chloride scores alongside similarly dramatic spikes in lung function put me in tears...again.  It is nearly impossible to wrap your mind around a concept like this when you have been dealing with CF for any length of time.  The more tired I get, the harder it is for me to control my emotions and act professional.  I've been screaming on the inside the entire time I've been here and as I sat in that darkened room of completely subdued scientists and was all I could do to keep myself seated and quiet.  I wanted to stand up and give an old school fist pump and woot with each new graph displayed.  I also wanted to kick the lady next to me because she didn't even seem to be paying attention.  It just never ever gets old.  My hands still shake and sweat, my breathing goes all funky, and I'm pretty sure my eyes bug out when VX-770 is the topic of conversation.  I know getting VX-770 to where it is today has taken decades of collaboration between Vertex and the CFF, but it is truly is amazing that it was discovered at all.  Dr. Beall told me yesterday that when they first began screening for compounds to treat the basic defect of CF, VX-770 was in one of the first few thousand compounds they screened.  In the millions of compounds that they have screened since, nothing has come close to being as pharmacologically perfect.  Imagine setting out to find a single burned out light bulb in all of Orange County and then finding it on the very first block you search.  Finding that compound was more than lucky, it was a miracle.  The last talk in this workshop was given by a researcher from Pfizer, one of the largest pharmaceutical companies in the world, who has now thrown themselves into the arena of CF small molecule research.  Vertex now has company in searching for new and better functioning corrector compounds.  Pfizer has its own databases of compounds that haven't previously been screened by anyone and they hope to find some gems there.   They want to find the "next generation" of correctors that work specifically on the two misfolding sites I described on F508 yesterday.  They believe that a two drug combo of correctors working synergistically will provide the best results and are setting out the find those burned out lightbulbs.  Let's all hope they get as lucky as Vertex did, so they can begin the process of clinical NOW NOW NOW!

Next up was a special luncheon attended by CF patients, families, and certain caregivers.  The face of healthcare is changing.  Patients and providers can both do more to improve the quality of care, especially for chronically ill patients like those with CF.  I didn't see this coming, but this talk hit me like a ton of bricks.  "Tiffany Christensen is the CEO of Sick Girl Speaks, Inc. She was born with cystic fibrosis and has received two life-saving double lung transplants. Today she is a national public speaker, the author of “Sick Girl Speaks!” and “We are the Change: Transforming the Healthcare Experience through Partnership.”
Yes, you read that right.  She has undergone not one, but two double lung transplant procedures.  It is amazing to me that she has spent most of her life very ill and close to death.  There was so much life in that tiny lady that her body seemed too petite to possibly contain all the energy and positivity that she exuded.  I'm planning an entire blog entry centered on the tools she taught about communication between patient and provider.  I don't have the time to go into detail now as the closing event for the Conference begins in less than an hour, but I do want to say this.  She described her drive to do something meaningful with her life as a way to "honor the gift."  As soon as she said the words, tears sprung into my eyes and the words haven't escaped my mind for a second today.  Honor the gift.  She knows how lucky she is to have been given the gift of a second...and a third chance at life.  She now works to train medical students, medical staff, and patients on how to improve communication in healthcare, especially in regard to end of life issues.  Brady doesn't need a transplant, but VX-770 certainly feels like a gift to me.  I'm not sure exactly how, but I will be spending the rest of my life trying to "honor the gift" I've been given through continued work and advocacy for the CF community.  I'm so humbled I can barely stand how lucky I am.  I have so much more to say, but I have am out of time for now.  I fly out at 7:45 a.m. tomorrow morning.

Friday, November 4, 2011

Coffee with Bob and day 2 of NACFC

Today started off with the second Plenary Session, entitled CFTR2.  The CFTR2 project has a goal to identify and classify as many CFTR mutations as possible (they have close to 1900 different mutations identified now), and put that information into a database that can be easily accessed by both patients/families as well as researchers.  Beyond simply identifying mutations, CFTR2 will attempt to offer more clinical information on what is known about each of those mutations.  For example, some are associated with pancreatic sufficiency, or less severe lung disease.  It will be a place to go to find out all about each particular mutation.  This might not seem like much, but the CFF has worked hard over the years to gather extensive amounts of patient information through their patient registry program to be able to provide this type of clinical data correlated to mutation.  As we are learning--mutation matters, so this will be a wonderful resource that should be up and running sometime next year. 

Next, everyone went their respective ways to attend morning sessions.  I decided to attend a talk about  Gene Modifiers of CF Lung Disease.  Studies have shown variability in lung function between siblings and twins, indicating that other forces may be at work in determining the clinical outcomes.  Specifically, two sites on the chromosome were discovered to have significance in determining severity of lung disease.  It was a very technical talk, but I will try to boil it down.  One of the sites they found to be significant regulates cell death and the other site helps regulate the body's inflammation response.  They hope to be able to learn how to manipulate functions at these crucial sites, so that therapies might be developed to correct for alleles associated with more severe lung disease.  Understanding these types of modifying genes could help explain why two children from the same family can have drastically different "cases" of CF.  As we know, inflammation plays a huge role in CF.  Getting control over those inflammation genes would sure be nice...

I also attended a talk entitled: Antimicrobials in the CF Airways--How disease alters innate immunity.  This was an interesting session that showed how loss of CFTR function impacts the normal defense mechanisms in the respiratory tract.  Healthy individuals possess an "antimicrobial shield" that keeps the lungs from becoming infected.  That shield is missing or impaired in individuals with CF.  CFTR plays an important role in regulating airway surface liquid (necessary for mucociliary clearance).  Impaired bicarbonate secretion alters the pH of that airway surface liquid.  Lower pH reduces the "killing power" of the antimicrobials so that the body is unable to defend against something such as pseudomonas, which is an infection fairly exclusive to the CF pop.  They are using pig and ferret animal models to study the primary effects of loss of CFTR and will continue that line of research.

Genetic Suseptibility for CF-related Diabetes Identified by Genome-wide Association.  While there are similarities, CFRD is unlike type 1 or type 2 diabetes.  Diabetes develops frequently in people with CF, occuring in 25-50% of adolescents and adults with CF.  CF related diabetes develops over time as the capacity of pancreatic beta cells to secrete insulin declines over time.  They used a continuum to explain how CFers can exhibit transient and significant drops in insulin sensitivity when ill or having a pulmonary exacerbation.  In other words, it isn't a clear case of diabetic or is more like diabetic while taking steroids or during a flare-up, and then a swing back toward more normal function when well.  These swings between good function and bad function go on over time until the patient is chronically on the bad side, when interventions typically begin.  The mechanisms of the development of CFRD are not well known, but several genetic markers have been located as risk factors in the development of type 2 diabetes(totally unrelated to CFTR or what genotype of CF you have).  CF patients who also had these markers, were more likely to develop CFRD.  With that information in mind, individuals with CF who have a family history of type 2 diabetes were found to be 3X more likely to develop CFRD than those who don't.

After lunch I attended my coffee meeting with Dr. Beall and the VP of Commications for the CFF, Marybeth McMahon.  This time, I had my act together.  They were both very interested in how issues are perceived within the community and what they can do to better address or educate about those issues.  They wanted news from the inside.  I spoke frankly about the impatience and worry over the success of the combination Vertex trials and the bittersweet nature of a breakthrough like VX-770 for people who won't benefit from this right away.  They are acutely aware that time is of the essence and were genuinely interested in what they could do (besides hurry up with that damn cure!) to address the concerns of those still waiting.  For me, this topic has caused me many sleepless nights.  There is a certain amount of guilt that I just can't shake about having the child that will benefit first.  But at the same time, I know that VX-770 will likely be a part of the treatment regimen for many mutations of CF (as they will require both corrector and potentiator compounds), so it is absolutely a good thing for everyone that it is approved.  I think there is also a misconception that the F508 mutation has been put in the backseat while G551D has taken all the focus.  As I will explain, the dysfunctions of the F508 mutation are numerous and complex.  The G551D mutation is functionally, one of the easiest to correct for and VX-770 was discovered while screening millions of compounds with robots and supercomputers.  It was not, by any means, an intentional snubbing of fixing the most common mutation...rather, a place to start.  The "potentiating" action of VX-770 is a single piece of a larger puzzle for F508.  I think it is an appropriate time to revisit the new information I learned yesterday about fixing F508.  They now know that there are 2 distinct and separate problems that occur in F508 that cause misfolding of the protein.  Misfolded proteins do not mature and travel to the cell membrane.  If they only correct for one misfolding problem, they seem to top out at about 15% retrieval of CFTR function for F508 patients, which isn't enough to have clinical benefits.  The good news is that they've shown that when both of these misfolding problems are corrected for in the lab, the two correctors work synergistically (the action of the 2 correctors together is greater than the sum of the two individually), producing the clinically significant outcomes we all want.  Blah blah blah...So what does that mean for VX-809 and VX-661?  I'm afraid they still aren't sure.  From what I've learned since I've been here, I have a gut feeling that the VX-809/VX-770 combo alone won't be enough.  A third compound (or different corrector) will need to be factored in to correct for the second misfolding site.  This is just my opinion.  

Highlights and tidbits:  During our coffee today, Bob said "When VX-770 is approved in April...."  He sounded pretty damn sure that next April is when it is all going to happen.  I asked about the pediatric trial and he says it will not be placebo controlled, and of fairly short duration (3 months).  This trial is about safety and appropriate dose for kids, not proof that it works.  I asked him when it will begin enrollment and he promised to find out something more concrete than "sometime in 2012" and report back to me within the next 2 days.  Then he invited me the dinner reception this evening for Conference Speakers and Fellows as his personal guest.  That's's a date.  Naturally I accepted.  He also went on and on about the book and how much he loved it.  He even brought it to registration this morning to show his friends.  He is very proud of it :)   After coffee, I went to film "my dream for CF."  I was so nervous.  I hope I did alright.  Of course, it rained here today so my hair was all funky. I'm sure that I'm leaving things out, but I will write more either tonight or tomorrow.  Right now, I've got to get ready to meet my new boyfriend Bob for our date!   Once again, sorry for the screw-ups, I'm trying to get this updates done FAST!

Thursday, November 3, 2011

Prelude to a kiss

I am exactly where I belong.  Today was one of the most amazing days of my life.  My flight landed at 9:30 p.m. last night, but I was so pumped that I was up and ready by 6:30 a.m. this morning.  I made my way to the Conference and sat through some interesting sessions today.  Here is a brief summary of the sessions I attended:

Workshop: Novel Strategies for CF Therapy--The speakers in this workshop discussed topics including results of a clinical trial to test the anti-inflammatory properties of N-Acetyl cysteine (bioadvantex fizzy tabs).  Clinical test showed a "protective" effect of orally ingested NAC against pulmonary exacerbations.  They are interested enough in this data to proceed with further trials.  The stats weren't mind blowing, but interesting. 

Gene Therapy: I made a point to attend these workshops because I feel that it is an area of research that I know the least about.   The first speaker addressed the gene therapy trials and success they have seen utilizing lipid-mediated gene therapy in mice.  I realize the concept of gene therapy has been around for a long time.  It seems like they have finally found a vector (method of delivery) with the lipid model that facilitates sustained gene expression that is well tolerated by the patient.  Mice treated with nebulized therapy showed gene for extended periods, as well as changes in mRNA. The "lipid model" has already been tested in humans and the next presenter addressed safety and gene expression in humans with CF for his talk.  They found that very low, repeated (monthly) doses of gene therapy gave the fewest side effects with the greatest translated gene expression.  A larger study is planned to initiate soon, but funding was cited as a major obstacle to moving forward.  I've been so focused on Vertex for obvious reasons, but it was great to hear about this potential "cure" continuing to progress. 

CFTR: Fixing DF508
It is complicated business to correct the function of DF508.  Today I learned that researchers have discovered 2 separate dysfunctions that cause misfolding of the CFTR protein for this mutation.  Estimates show that approximately 20-30% CFTR function must be restored to get significant clinical benefits.  So far, they seem to be hitting a ceiling with how much they can restore with ANY single corrector, including VX-809 (which they estimated restored 15% CFTR).  I heard, for the first time ever, that they think it will take a combination of TWO separate correctors plus the VX-770(or another potentiator compound) to hit their goal of restoring function for this mutation.  This DOESN'T MEAN that the correctors in trials aren't working...It means that it might take VX-809 + VX-661 + VX-770 for example, to correct for this mutation.  After a full day of lecture, I am just as optimistic as ever about the advances being made to treat DF508.  As I said before, it is much more complicated, but they are on it like "white on rice."  The detail that they are able to describe the function of the CFTR protein is just dizzying.  It is no longer a mystery, but simply a quest for the right combination of compounds.  It was stressed many times that no assumptions should be made until further trial data is released. I hope I can report more about this tomorrow. 

The Changing Face of the Infants with CF
This series of presentations highlighted the changes that have come about as a result of newborn screening and early intervention.  The session entitled "CF Lung Disease-No Time to Waste" was a little scary.  It basically showed statistical evidence(though CT scan) that lung disease begins to progress shortly after birth...even in the absence of symptoms.  20% of screened infants even showed early signs of bronchiecstasis in the absence of symptoms.  This early damage to the small airways can be undetectable.  What I took away from this workshop is: DO NOT WAIT UNTIL SYMPTOMS PRESENT TO TREAT THE CF LUNGS!  Be proactive rather than reactive.  By the time it is noticed through symptoms, significant damage is already done.  If you are on the fence about starting treatments like Pulmozyme or HS Saline...don't wait.  Just do it. 

Here is where things start to get really exciting!  After the classes today, all 4000 attendees came together for the 1st Plenary Session of the Conference.  I arrived early and found the giant ballroom mostly empty...except for Dr. Bob Beall, and several other major players that I have only seen in educational webcasts.  So I did what any good stalker would do.  I planted myself about 3 rows behind him and stared and smiled weirdly at him for about 10 minutes.  Finally, my excitement got the best of me and I launched myself at Dr. Preston Campbell.  He quickly decided I should speak with Dr. Beall.  He led me over and introduced me to him.  I know that I squealed, covered my face with my hands, and jumped up and down before I threw my arms around him.  This is not normal behavior for me.  I hugged him hard, thanked him, and I think both Campbell and Beall cried a little bit too.  Since people were pouring into the room, we didn't have much time.  Somehow, within a span of about 15 minutes, I landed a reserved seat in the FRONT ROW DIRECTLY IN FRONT OF THE SPEAKER!  I was seated right next to the Foundation big wigs and major donors.  It was amazing and surreal to watch the next few hours unfold.  The Plenary Session today was about the progress of the last 25 yrs in CF research.  It was like music to my ears.  I was lucky enough to meet some families in the CF community including Lindsay Shipp and her mother Barb.  Lindsay has participated in the VX-770 trials...and is also an amazing singer/performer.  She sang for us at the VIP dinner that I snuck into(thanks to Raven and Britt!).  I'm so thankful for people like Lindsay, who have done so much to pave the way.  Not to mention that she was just a beautiful little firecracker that lit up the room.  The VIP dinner was attended by only 117 of the 4000 attendees, so there were some important people there.  I heard that Bob was talking about me at his table, so we decided it would be a good time to give him the book of pictures and letters from all of us.  THIS IS WHEN I KISSED HIM!  3 times I think.  We took pictures and he was very appreciative.  I thought it couldn't get much better until later in the night, right before I left he told me, "In all my years, this is the most thoughtful, nicest gift anyone has ever given me."  I just about lost it.  For those of you that contributed, please know that he loved it for real.   I decided I'd better get out of there so I could cry it out in private.   All happy tears.  Surreal, overwhelming happy tears.  My coffee meeting with Bob was changed to 2:00 tomorrow afternoon and I learned that I will get the opportunity to film a "my dream for CF video" for the Foundation also.  The absolute only way that today could have gotten any better is if my shoes were more comfortable.  Please excuse any typos or errors.  It is very late and I'm exhausted.  More tomorrow.  Can you feel me smiling?

Saturday, October 22, 2011


I vowed to share our story through each step of this so here I go.  My mind has been in a million places the last few days so I’ll try my best to make this understandable.  First, let’s recap:  Brady is recovering from his recent endoscopic sinus surgery and seems to be breathing much easier.  He is making comments during meals like, “mmmmm, tasty mom” that indicate to me that he is finally smelling and tasting his food.  His appetite in general seems to have increased.  He is not snoring at night and can breathe through his nose during the day.  Awesome.  Want to know what is even more awesome???????

NEWS FLASH! Vertex Pharmaceuticals submits new drug application to the FDA on Oct. 19th for VX-770(Kalydeco—Kuh-LYE-duh-koh)! It is strange to see VX-770 with an officially trademarked name associated with it!   At first I didn’t like the name.  Now, it makes me think that CF is about to collide-aco with my fist.  Dumb I know…but it helps me remember the name.  It is hard to describe how it feels to actually realize a goal like this.  When I learned about VX-770, Brady was an infant and the drug was in Phase 1 trials.  The chances of any compound making out of that first phase are so small.  Years pass and VX-770 progresses through phases 2 and 3 of clinical trials with incredible results.  Today, the FDA considers this drug for marketing approval in the U.S.  When it becomes available…everything will change for us.  Am I dreaming? 

Today I also booked my flight and hotel for the North American Cystic Fibrosis Conference in Anaheim Nov. 3-5th.  I went back and forth over whether or not I should attend…it is super expensive.  A few weeks ago I decided I should just stay home and watch the webcasts.  Then the application went to the FDA and I got the most unnerving feeling in the pit of my stomach.  I felt so sick thinking about this conference going on without me so I instant messaged Brock at work, hoping he would agree to take time off work and let me go.  I feel like I’ll regret it for the rest of my life if I miss it, so I’m going.    

An hour later, I’m registered and my trip is booked.  You’d better believe I’m going to share everything I learn.  I know there are so many other CF parents out there still waiting.  For some reason, Brady has that random genetic mutation that gets to benefit first…I will pay it forward every way I can.  I feel so nervous and excited.  My son’s entire clinic team is also attending and I’m looking forward to “hanging out” with them in a social setting.  I can’t believe I’ll be rubbing elbows with the scientists who developed VX-770, and the President of the CFF, Dr. Bob Beall.  They are like celebrities to me and I’ve got butterflies just thinking about it!  I will also get to meet a few CF parents that I’ve come to know through Facebook.  It is all becoming so real. 

There has been a flood of information online in the last few days regarding the Vertex drugs and details of the clinical trials.  One man wrote that he had achieved a 99% FEV and had stopped most of his other CF medications after being on VX-770 for a while.  This is what I hope for Brady.  I hope he can someday stop his crazy shaky vest and constant expensive airway clearance medicines…and just take Kalydeco and enzymes…and be healthy. 

My primary goals at the conference are to:         
1) Meet and kiss Dr. Beall

2) Learn inside information about the trial for 2-5 yr. olds that Vertex is planning for 2012.  I need to know details for obvious reasons.  My hope is that the trial is set to start at the beginning of 2012!  This is the best, easiest, cheapest, most lawyer free way for Brady to get the drug.  I’m worried that if we try to obtain it by regular prescription, our insurance company will deny coverage.  The drug will be super expensive and has only been tested in children aged 6+.  Brady will only be 4 when it is approved so we expect a fight.  I need to find out the parameters of the trial.  Is it placebo controlled?  I want the real drug for sure.  Brady’s nurse seems to think that it might be designed more like a rollover study where everyone gets the real drug, because efficacy has already been proven.  Also, when exactly do they plan on enrolling and starting the trial for 2-5 yr. olds?  The sooner, the better. 
3) Meet and thank people from my CF community

It feels like something big has happened even though nothing has actually changed.  We are still just sitting here waiting for the little blue pill.  Still, there have been some ch-ch-ch-changes in my mind.  The weight of CF has begun to lift and I’m allowing myself to imagine distant futures.   It is starting to feel like everything might just be OK, so I can relax for a goddam second.  Last night, I slept better than I have in years.  It is just such an amazing flood of relief washing over me.  The profound impact that the Vertex news has had on me has allowed me to really cruise through Brady’s recent surgeries with a positive attitude.  Also, it is tough to be negative when he is so stinking brave about everything.  After both surgeries, the anesthesiologist told us that Brady wanted to hold the mask himself while inhaling the medicine to put him out.  He was a cool, calm, star patient and they were really impressed by him.  He is an unstoppable force.  Just imagine if he had a chance at a regular healthy life…oh wait, he does J  I am so happy, hopeful, and thankful.  Now I just need to figure out what to say to the people responsible for making this happen.  How do you thank someone for a gift like that?  I have less than 2 weeks to figure it out!  So far, all I’ve come up with is blubbering tears. 

I’ve been asked by lots of other CF parents to report what I learn at the Conference and I promise detailed updates!

Friday, August 5, 2011

The Big Picture

It has been a tough couple of weeks…but I cannot be distracted from the big picture.  Brady had been having a hell of a time breathing and sleeping because of swollen, chronically infected tonsils and adenoids.   He had surgery to remove them on July 28th.  I know lots of people have had their tonsils removed, but I think it has been a little tougher for Brady.  He has to swallow a ton of pills every day, no matter how much his throat hurts.  His breathing treatments have definitely been a challenge also.  One inhaled treatment is concentrated salt water, and while probably very therapeutic, seems to burn quite a bit.  He has been complaining during his vest treatments too.  I suppose being shaken like crazy doesn’t do much to soothe raw surgical wounds.  I feel so bad.  CF just sucks.  It makes his life so much harder.  And my heart breaks when he sees me coming toward him with another handful of pills and he starts to cry.  Or when I am sitting next to him for his treatments and all I hear is a muffled, “mommy my throat hurts” from behind his nebulizer mask.  Fortunately, we are now over a week post-surgery and things should start getting a lot better soon.  That is worth repeating…Things should start getting a lot better soon.
The day Brady had his surgery; Vertex announced their plans to apply to the FDA with VX-770 in October, 2011.  This October.  Just a few months away.  And while I know there are a million variables that could affect the outcome, VX-770 does have fast-track status with the FDA.   Vertex Pharmaceuticals managed to get another one of their new drugs (Incivek for Hepatitis) approved earlier this year in less than 2 months!  Vertex was prepared and was able to make Incivek available to patients 3 days after the approval.  VX-770 has superstar clinical data with only a few minor adverse side effects reported.  Honestly, I think they are in a good position for a hasty approval.  I am trying so hard to think about this objectively.   I can’t even guess how many scenarios I’ve played out in my head concerning when and how Brady will get his drug.  My latest goes something like this(cue dreaming sounding background music)…Vertex submits their new drug application in October and is approved by the end of year.  2012 starts off with a bang and VX-770 drops from the sky with a little silken parachute into my hands.  I’m pretty sure the bottle will be encrusted with jewels.  I rub the bottle and a genie pops out.  He doesn’t even ask what my wish is, he just hands me the little blue pill.  At that point, I drop to my knees and give it to Brady(very dramatic, tears streaming down my face).  He swallows it and runs off to play, as if nothing ever happened.  But for Brock and I, there is a palpable shift in our universe at that very moment(I know, soooo cheesy right?  Big deal, it is my fantasy!) 
Back to reality, I’m so curious to know how I will feel right then.  I try to be thankful on a daily basis, but this is new.  This is something I would gladly give my life for.  It must feel awesome to receive a gift like that.  It is something I’ve dreamed about every day since his diagnosis.  I have never wanted anything more.  Never.  And now it is practically here.  It is happening.  There are still thousands of people with CF that won’t benefit from this right away so it seems like an even more personal miracle.  When I first read about Vertex’s research, Brady was an infant.  I dreamed up my first scenario that day.  As the years passed and further trial results were published, I obviously became more and more obsessed.  This couldn’t be better if I had scripted it myself.  Why the hell am I so lucky?  I have been trying to stay busy and focus on other things for my sanity.  Trying is the key word there.  My detox diet has been a nice distraction.  I want to look my best for all the television interviews I will be doing when Brady is all fixed up and the world wants to marvel at him ;)  I hope Brady’s pharmacy will agree to deliver via silken parachute(horse drawn carriage would be a second choice)…just this once! 

Wednesday, June 15, 2011

Why I need coffee

It is impossible to look at Brady and imagine what his day is like…but here is what he actually does most days.  It is a demanding schedule that is sometimes very difficult to adhere to, for everyone.  We are happy that all of Brady’s medicines are in pill form now.  He used to have to swallow some disgusting liquid vitamins, and other liquid medicines.  Getting the prescription filled is one thing…getting the medicine inside the child is quite another thing.  We are lucky that Brady is very compliant with his treatment schedule.  As you will see, Brady has to do something CF related every few hours throughout the day.  It makes things like traveling and having a social life difficult sometimes, but with planning it can be done.  It is a lot of work for Brock and I, so it is a good thing that Brady is so darn cute.  I have Disney Pixar movies and white Russian cocktails to thank for getting me through some difficult times. Keep in mind that the schedule below is the “healthy” schedule.  If Brady is ill, breathing and vest treatments are added.  Let’s just say that I will be smiling from ear to ear as Brady is able to be taken off several of the medicines and treatments in his schedule after VX-770 is in his system for a while!  That is our hope and what I truly believe will happen.  Anything is possible! 
7:00 a.m. Wake up—The first thing I do when Brady wakes up is give him his Prevacid capsule in a spoonful of applesauce.  He used to swallow his enzyme beads in applesauce and was used to just gulping it down without chewing, so I started sticking pills in the spoon whole when he turned 2.  He stilI swallows his pills this way, which means he eats a ton of applesauce.  Fortunately, he loves it.  I get him some OJ and spike it with a liquid fiber supplement.  He needs a drink nearby for treatments.  If I have time, I begin preparing his morning treatments before he wakes up.  Basically, I have to wash hands, prepare nebulizers with correct medicines, take Brady to potty and get him in his vest, and get something sweet on the TV to occupy the next 45 minutes of our time.  Brady inhales his Albuterol (about 6 minutes) and then his Hyptertonic Saline solution (about 18 minutes), and then we turn on his Vest to shake the crap out of his lungs for 20 more minutes. 
8:00 a.m. Breakfast. While he is finishing his vest, I begin cooking his breakfast and sterilizing his nebulizers.  After every single session, his equipment gets cleaned.  First, wash nebulizers in warm soapy water and rinse.  Next, sterilize them in an electric baby bottle steam sterilizer.  Finally, air dry them in a little device called a “Germ Guardian” that uses dry heat to kill germs.  Boring.  Moving on… I cook something special for him every morning.  I strive for a minimum of 15 grams of fat and 15 grams of protein at meals.  He is usually pretty hungry and goes to town on Pediasure and eggs scrambled in tablespoons of butter. His other breakfast faves include: frozen fortified whole grain waffles soaked in butter and pure maple syrup, rice with raisins, cinnamon, and ½ n ½, and double fiber toast with PB, honey, and butter.    At breakfast, Brady takes 5 ½ more pills: 3 Zenpep, 1 Ursodiol, ½ Source CF chewable vitamin tablet, 1 Singulair pill.  All this crap takes a while. The time is extended by the fact that Brady is the slowest chewer in the universe. 
9:00 a.m.  Party time.  Put on sunscreen and go to the park, library, etc… I usually try to eat some breakfast and wash my face around this time.    Brady is occasionally kind of pissed that I’ve been making so many demands of him and wants to do something fun.  If the weather is permitting, we go outside.  He needs exercise every day for his lungs and this is usually the best time to get it. 
12:00 p.m. Lunch time.  Brady’s favorite lunches right now are: elk burgers and chips, or creamy cheesy pasta with bacon sprinkles and a side of black olives.  Can’t say I blame him.  He takes 5 ½ more pills at lunch: 3 Zenpep, a fish oil pill, an antioxidant Juiceplus capsule, and ½ a chewable vitamin(I break his vitamin in 2 because it is super strong and has a tendency to hurt Brady’s stomach and make him puke).  I always offer him Pediasure or Boost at mealtime.  He doesn’t need enzymes to process juice, so I mix juice with water and give that to him between meals. 
1:45 p.m. Nap time.  Brady usually sleeps between 2-3:30 or so.  He loves his nap and I am pretty strict about it.  I feel the extra rest helps to keep his immune system humming.    
4:30 p.m. Dinner time. Prepare meal and give 6 more pills: 3 Zenpep, 1 fishoil, N-acetylcysteine capsule, and Juiceplus antioxidant capsule.
6:30 p.m.  Breathing treatment time again.  In the evening, he does the same as in the morning, plus one additional breathing treatment (Pulmozyme—takes about 6 extra minutes). It takes an about an hour to do it all. Usually Brock does his evening treatments with himJ  There are 2 nebulizers to sterilize again just like the routine described earlier.  *Brady spends about 1 hr. 45 min total every day doing treatments for his lungs.  I bet we spend 20 min sterilizing equipment every day plus time to set up and put away all the machines. 
8:00 p.m. Night time snack plus 6 more pills:3 Zenpep, calcium pill, antioxidant Juiceplus, Ursodiol.  We have to try to cram a few more calories in before bed.  Hopefully they go straight to his tiny butt!  Buttered graham crackers, buttered salty popcorn, and vanilla milkshakes are favorites for this snack.  We can never let up on the calories or his weight gain completely stalls out or he starts losing!  It is a huge source of stress for me.  
8:30 p.m. Shower. We try to bathe or shower Brady every evening to keep allergens and bacteria off his skin.  It is pretty annoying right now because he fights it.  If we don’t do it, his nose gets all stuffed up and he snorts and snores all night.  Boo allergies! 

Medicine Guide
This is just a brief description of the medicines he takes. (Brady takes an average of 23 pills a day, That works out to 690 a month. 8280 in a year.)  Prescription drug coverage is of supreme importance for us!  Brady’s medicines retail approximately $4500/mo.
Prevacid—Acid blocker.  Assists action of enzymes.
Zenpep—These are the digestive enzyme pills that Brady must take with everything he eats.  He generally takes 3 at each meal, but the dosage gets adjusted based on what and how much he is eating (which is sometimes anybody’s guess!).
Ursodiol—This pill assists his liver function.
Singlulair—Asthma pill
Fish Oil Supplement—helps body with inflammation, which is a concern in the lungs in CFers
JuicePlus Antioxidant Supplements—These are a whole food supplement made with a variety of fruits and veggies.  There are 3 different pills: fruits, veggies, and berries.  That is why he takes 3 of them each day.  Brady is a very picky eater and I feel like this is at least something I can do to help fill the gaps in his diet.  I was skeptical, but there has been a decent amount of clinical research regarding the effectiveness of raising antioxidant levels in the blood when using this product. 
N-acetylcysteine—powerful antioxidant.  The body uses NAC to synthesize glutathione.  I try to get Brady to take the effervescent kind from Bioadvantex, but he doesn’t like the taste right now so we are doing caps for a while.  NAC is a readily oxidized compound and pills often lose a lot of their potency by the time they are ingested. 
Albuterol—bronchodilator.  This medicine is used by a lot of people with asthma because it opens the airways.  Doing this medicine first allows all his other medicines to get deeper into his lungs. 
Hypertonic Saline—This is a 7% salt water solution (about twice as salty as seawater).  Depositing salt on the inside of the lungs draws water to the lung surface.  Hydrating lung mucus allows Brady to get a couple of good juicy coughs out and move some of that junk loose.  I’ve heard from adults that this is very irritating to inhale.  Sort of like sandpaper.  Brady doesn’t seem to mind. 
Pulmozyme—This is a super expensive inhaled breathing treatment that breaks up mucus in the lungs. 

Saturday, May 14, 2011

thick skinned

It is fundraising season...probably the most heart wrenching time of year for a CF parent.  To put on the golf tournament that I hosted recently, I had to solicit silent auction items and business sponsorships from people and places in my community.  In total, I received a ton of support, but I was also faced with lots of rejection.  One woman yelled at me for even asking!  I approached the manager of a local garden nursery to see if she would donate a plant to my silent auction.  Her response was, "What is it with YOU people this year?!" "I've already donated to the school and I don't donate to churches and it seems like everyone WANTS something this year!"  I stood there sort of shocked for a second before I replied, "well, I don't have anything to do with any of THEM.  I'm just trying to save my son's life."  Then I walked to my car and cried.   The thing is, I learned very early that the CF Foundation would be having a huge impact on my life.  I feel it is in the best interests of my son, and everyone with CF, that I devote the rest of my life to supporting them.  Brady was diagnosed early because of their work. He has the benefit of preventative medicines because of their work. His illness will soon be largely controlled by an upcoming pharmaceutical(VX-770) because of their work.  No job or project has ever come close to motivating me to work the way fighting CF has.  So I allow myself to sob in my car for a while...then I have to shake it off and keep going.

When I was just beginning my chemistry studies in 1996, scientists were stumbling upon the first Vertex compounds VX-770 and VX-809 in a lab.  A series of events and investments followed those discoveries to bring us to where we stand the door of the FDA with a groundbreaking new treatment not only for CF, but for all genetic diseases.  The fact that Brady is part of the tiny population(1200-1500 people is what I have heard) that will be able to benefit from this drug right away, is something that I give thanks for every day.  It is not lost upon me for a single second that when VX-770 arrives to help Brady, thousands of others with CF will still be suffering.  Bittersweet.  I would be lying if I claimed that I wasn't so involved in supporting the CFF for completely personal reasons.  I NEED my baby to be alive.  At the same time, I feel a connection to this community that is more powerful and compelling than anything I've ever experienced.  I love several of the people, especially other moms,  that I have met through facebook etc... that make me feel like I am not alone.  For those of us that live with CF every day, I don't need to explain to you how much the support from friends, family, and community at Great Strides time means.  People frequently tell me that I seem "dedicated" to supporting the CFF.  My response is always, "there is a fine line between dedication and desperation." 

I am really just a mother, who is not about to stand idly by while their child is destroyed.  I remember the day I learned that Brady had CF as the worst day of my life...but it is also the day that things came into focus.  Absolutely nothing has changed my personality or outlook on life the way dealing with CF has.  Before CF I based my life on "plans."  The life I have today is certainly not the one I had planned, but I feel more focused and determined than I ever have before.  At this point, I see life as the wildest ride I could ever imagine and I am just trying to hold on.  When I decided that fundraising for the CFF would become my mission, I basically committed to sharing the journey with everyone in my path.  People don't want to donate to a disease that they know nothing about.  Be warned that sharing your CF story can be a painful road that will leave you vulnerable, wounded, and frequently sobbing in your car.  You have to place your battered heart out there constantly and hope that the reaction you get doesn't just finish you off.  I can't begin to explain how important it is to me that people stand up and get behind me when I do an event like the "2nd Annual On Par for a Cure Golf Scramble," or the Great Strides Walk.  The money contributed to the CFF is going directly to the research that is controlling CF.  That research could be drastically changing our lives within the next year.  How much closer to the action can I get?  I must remain focused.  For me, fundraising is one of the only things that feels really good, like I'm doing something to help.  I would be lying if I said that I don't take it personally if my friends and family support the CFF.  If you aren't interested in helping me keep my child alive, well, I'm not sure we have much to talk about.  Is that fair?  No. That is sort of like saddling the rest of the people that love me and Brady with CF too.   But is it fair to try to pretend like I don't mind if people who claim to be my friends are suddenly too busy and broke at Great Strides time to contribute?   Hell no.  The people that attend Great Strides are more important to me than those who attended my wedding.  I don't know how else to put it. 

I feel an enormous responsibility to repay the work that the CF Foundation has already done and make sure that everyone suffering from CF gets to benefit from a genetic modifier like VX-770.  It is emotionally draining to be so angry at CF and so ecstatic about VX-770 at the same time.  I know a local man who underwent a double lung transplant a week ago because of his CF.  He very nearly died. The clock never stops ticking when CF is in your life.   Every day I tell myself that once Brady has his new medicine, I will have so much more time and energy to devote to fundraising.  It is a surreal feeling to know his medicine is coming so soon.  I feel "guilty" being one of the first CF moms to be staring this breakthrough in the face.  Why are we so lucky?  We haven't paid our dues the way so many other families have.  God, I will try to pay it back.  I will never stop fighting.  As much as I hate it, I will keep approaching everyone I know (and don't know) to ask for help to cure CF.  I absolutely despise asking for money and sometimes I swear I would curl up and die if the person I beared my soul to decided to reject me.   

So thank you friends.  Thank you family.  Thank you dozens of businesses that donated to my golf tournament.  Thank you stranger who decides to volunteer.  Because of you, I won't go completely crazy today.  Because of you I will put my old beat up heart out there again tomorrow.  and thank you also to the mean lady that yelled at me for asking for her help.  Because of you, my skin is thicker and I will try to never allow "no" to get me down.  What an extraordinarily lucky life I live. Who knew that giving your heart an absolute beating could be so rewarding at the same time?

Tuesday, April 26, 2011

Little Tweaks

When you are dealing with cystic fibrosis, bacteria and viruses suddenly take on a whole new significance.  I know that fighting germs is a losing battle.  No matter what you do, people with CF will acquire infections and viruses.  Still, because I am Brady's mom, I have to do everything I can to minimize their devastating effects on his little body.  Think back to a 7th grade science class, when you were learning about different types of cells in the body.  People with CF have dysfunction in their epithelial cells (mucous membrane cells).  Normally, there is a fairly thick layer of water on the surface of these cells, creating an environment for cilia(the little hair like projections on the cell) to sway freely in the liquid, sweeping away any foreign bacteria or particles out of the lung.

People with CF have a salt imbalance in these cells, which creates a water shortage on the surface.  Instead of swaying freely in the liquid, the cilia are bogged down in a thick sticky mucus, as can be seen below in the image on the right.  The lungs become unable to clear normally occuring bacteria like staph, or pseudomonas aeriginosa out of the lungs and chronic infections develop.  Over time, it is these infections, and the inflammation and scar tissue that they cause that lead to respiratory failure for CF patients.  The introduction of a respiratory virus almost always complicates issues further. 

Anything that causes further impairment of the respiratory system, and creates even more thick mucus becomes a recipe for worsening lung infection.  It is not an easy job to fight an enemy that you will never defeat.  Bacteria and viruses are everwhere.  I realize that I will never be able to control Brady's environment completely, but I feel that it is my job to give him the healthiest environment possible for his lung health.  We have made some little tweaks to the way we do things around our house and I think they have gone a long way toward keeping Brady healthy.  It is tough to really put these things out there because I will inevitably be judged.  I realize I am paranoid.  I realize that the way I think is not "normal"...and I don't care.  If any of my other CF moms take away a few tips, then it is totally worth it. 

1) Hand Hygeine.
 This is the obvious choice for my #1 tip, and the importance cannot be stressed enough.  I can tell you with 100% certainty, that paying close attention to hand hygeine works to prevent illness.  I have been sick less than once a year since I had Brady because I started paying attention.  That is a significant decrease for me.   I preach thorough hand washing, use of hand sanitizers and antibacterial hand wipes, and ALWAYS USE PAPER TOWELS TO DRY HANDS!  I know that tip is not going to be popular with the environmentalists, and I try to compensate in other ways as much as I can, but the action (actual friction) of using a paper towel to wipe your hands dry removes the greatest amount of bacteria and viruses from your skin.  Discarding the towel eliminates the chance for spreading.  I installed paper towel dispensers in my kitchen and bathroom and I ask everyone that comes into my house to wash or sanitize.  A company called Brick House makes paper towel dispensers that don't look so industrial and come in many colors:  I get boxes of multi-fold paper towel refills from Costco.  I don't even own hand towels anymore.  They remain damp for long periods of time and can be an ideal breeding ground for bugs.  Do I take Brady places and let him touch things...absolutely!  I just santize his hands afterword.  Does he play with other kids and at playgrounds etc...Yes!  But he can expect a bath when he gets home.  This behavior has been ground into him practically from birth.  He knows exactly what to do with "hanitizer."

2) Clean with killing on your mind.
Cleaning your house takes on new significance when you have a child with CF.  It become less about tidying up and more about killing.  You have to pay close attention to the products that you are buying, making sure they kill bacteria and which kinds.  Use cleaner in the appropriate strength and for the appropriate length of time.  Using diluted solutions or rinsing off early has actually been shown to promote bacterial resistance and is a big no-no.  I actually hate most of the best killing products, but they have a harsh smell and are very irritating.  There are some great natural products that work just as well.  I like Seventh Generation:  We have hardwood and ceramic tile flooring in the upstairs of our house.  We clean our floors weekly with our trusty Steam Shark.  I love it because it cleans and disenfects with water.  No stink and no chemicals. 

I am also a big fan of cleaning with UVC technology.  UVC is a wavelength of light that has been implemented in appliances like vacuums, air purifiers, sanitizing wands, etc...  Exposure to this light kills bacteria, viruses, mold spores, and dust mites in seconds.  It leaves behind no chemical residue, has no smell, and can be used on virtually any surface.  There are some very convincing studies on the efficacy of UVC light in fighting bacteria and the technology has been used in the healthcare field for years: .  Here is a little video I made about it:  Since I made this video, we have installed another UVC product in our home--a whole house air sanitizer by UV-aire mounted in our heating/cooling ductwork.

3. Get rid of bacterial traps in your home.
Cleaning sinks and toilets is a no-brainer...but unexpected things can be dangerous for CFers in the home.  For example, this article discusses how harmful bacteria can lurk in your showerhead:
When we finish showering, we leave the shower head dangling down so all the water runs out of the hose to keep the insides as dry as possible.  Every few weeks we soak the shower head in bleach water. 

Houseplants can also be a culprit.  The moist soil can grow nasty bugs.  Fortunately, I had already "taken care" of most of my houseplants by killing them with a lack of water ;).  Now, I just keep them out of Brady's reach, or skip them altogether. 

We have a dog in our home and I try to keep his bacterial contribution to a minimum.  First of all, he is a tiny, hypo-allergenic Yorkie.  I bathe him weekly and keep his food/water dishes and dog bed clean with UVC light and frequent washings.  Fishtanks are known to grow some nasty things, so we don't have one. 

As part of our cleaning regime, we also wipe down most hard surfaces and electronics in our home at least weekly with a disinfecting wipe.  I'm talking about: remote controls, light switches, door knobs, computer keyboards, cell phones, refrigerator door handle, buttons on microwave, kitchen chairs, you get the picture.  We also do countertops, tables, and wooden furniture with a disinfecting wipe and use the UVC wand on the couch, toys, and dog bed.

Finally, I wash all of Brady's clothes in HOT water.  I buy his clothes a little big because I know they will shrink.  If it can't be washed in hot water, I usually don't buy it.  I also wash all towels, rugs, blankets, and underwear in hot water.  Once again, the laundry is a place where things can be damp for long periods of time.  Make sure to switch laundry over to dryer promptly and dry until thoroughly dry on high heat. 

4.Avoid bacterial traps in public.
Here is where things can get tricky.  What can you do to fight germs when you are not in your own home?  A lot.  First of all, I always carry disinfecting wipes, hand sanitizer, and antibacterial hand wipes in my purse.  Most grocery stores carry disinfecting wipes at the door, but I carry my own...just in case.  This article refers to shopping carts as, "rolling fecal bacteria Petri dishes."  Enough said.
I also carry my own pen and keep it handing to avoid using the one everyone has been touching all day.  I will turn around and walk the other way if I hear someone coughing, and I think my head would explode if someone sneezed in my face. 

My most important piece of advice about avoiding public germ traps is TIMING.  I try to run my errands and make my appointments early in the day.  I take Brady to places like the library first thing on Monday morning (after a weekend of no kids and probably a cleaning).  I do my grocery shopping on Friday or Saturday night, or super early in the morning.  The store is usually empty then.  Making small tweaks to scheduling of your outings can greatly reduce the number of germs you come into contact during cold and flu season, when it seems like everyone around you is ill.

5. Limit exposure... to an extent.
When you are hit with a virus and you have CF, treatment time often doubles, reaching 3-4 hours a day.  It is not uncommon for people with CF to be hospitalized several times a year for IV antibiotics resulting from exacerbations from viruses.  For these reasons, I avoid people that are obviously sick and will steer Brady clear of anyone that is snotty or coughing. End of story.  All of our friends know about Brady's CF and avoid us if they are sick.  When we take Brady to the CF clinic or pediatrician's office, I take the first appointment of the morning, to minimize exposure.  If Brock or I get sick, we are quarantined to the basement of our split-level house to try to prevent spreading germs to Brady.

6. Take care of yourself.
I have no business talking about this subject because I am not very good at it.  The thing is, to keep your child healthy, you must remain healthy yourself.  That means that no matter how depressed or frustrated you are, you must continue to eat and sleep and try to exercise once in a while.  When you get stressed or sleep deprived, your immune system suffers.  Coffee is not a food.  When you eat properly, your immune system functions better.  The only reason that I care remotely about this is because I am one of Brady's main sources of exposure to bugs.  If Brock or I wind up sick, chances are much better that Brady will get it.  Also, we ask so much of Brady to remain healthy.  I need to be a reasonably good example for him of show him that everyone has to work a little to stay healthy. 

These little tweaks make us a little different from some families...and that suits us just fine.  Thinking this way doesn't just happen overnight, Brock and I have been in training for 3 1/2 years now.  Most of these things are changes that we have made, as parents.  Brady has absolutely no ill feelings about using hand sanitizer and will grow up thinking that cleaning the house top-to-bottom every Saturday morning is just something that all families do.  My husband has been supportive of all of these changes and is an absolute cleaning machine.  Nothing is sexier than seeing him hike up the legs of his sweat pants and fire up the Steam Shark.  I know...I'm lucky.