Tuesday, April 21, 2015

The Way CFers Measure Health Status - aka, how is Bennett's CF these days?

Bennett had his 3-month Cystic Fibrosis Clinic appointment last week.  So, I thought I'd share a little bit about how that went and how that tells us how Bennett is doing with regard to his Cystic Fibrosis health.

There are five primary measurements that the Cystic Fibrosis Clinic clinicians typically use during a regular CF Clinic appointment to determine how a CF patient is doing.

These measurements include:

1.) Oximeter Reading
2.) Weight gain/loss
3.) Pulmonary Function Tests/PFTs
4.) Throat Culture Results
5.) Lung sounds

Each time we go to the CF Clinic (which is every three months when Bennett is healthy), Bennett has to go through a round of invasive testing to help the doctors determine whether or not he may be getting sick.  



One of the first tests Bennett must undergo are evaluation of his vitals.  Bennett's fever is taken (to indicate current infection/virus) as well as his blood pressure.  Bennett submits one of his little fingers for testing with an oximeter.  An oximeter measures the amount of oxygen in his blood.  Typically we want to see 100% but anything over 94% is best.  Bennett's last oximeter rating was 99%.



The second test often used to monitor CF weight loss/gain.  Due to malabsorption issues in CF, Bennett's lack of weight gain has been an ongoing problem.  At our last appointment, the doctor, dietitian and I decided to change his enzymes, increase his tube feeds and increase the amount of calories in his formula.  These changes look like they are benefiting him.  Bennett gained 2 pounds since our last CF appointment 3 months ago so this shows Bennett is doing well!




The third test is called a Pulmonary Function Test or PFT (see video above).  Children under 5 sometimes do PFTs for practice but CF patients under 5 typically do not do PFTs because they require good technique to provide an accurate reading.  It requires taking a breath and then, as fast as you can, pushing out as much air from your lungs as possible.  Our clinicians say a PFT FEV1 of anything over 80% is good.  So, Bennett's blowing 90% for his first real time is excellent.  He will get better at the technique in the coming years.  Bennett's PFTs showed us his lungs are working at full capacity! Woo-hoo!!

A fourth test we do at each CF Clinic visit is called a "throat culture."  This is when the respiratory therapist or nurse puts really long cotton swabs against the back of Bennett's throat in order to get a culture of any bacteria that might be in his throat.  This throat culture is sent to a lab.  It takes several days to get the throat culture back but we typically learn within a week.  Bennett showed no new bacteria or infection in his lungs (outside of typical Staph, which is normal in CF).  SUCH A BLESSING!!!  

The last test that Bennett often undergoes at his regular quarterly CF Clinic visit is a listen of his lungs by the CF Pulmonologist Doctor.  Our pulmonologist said Bennett's lungs sound great so we are not worried about any infections at this time.  

We go back to Dallas to the CF Clinic in July where we will go through all of these tests again.  But, for now, we are celebrating the small blessings of weight gain, clean throat cultures and good PFTs!

Like a seismograph to an earthquake, these tests indicate the beginnings of a lung infection and the progressive nature of CF.  So, every single good test result is a blessing. Every. single. one.

There are other measurements that tell us how Bennett is doing - such as chest X-rays, CT scans, bloodwork and his own feelings about how his body feels.  But, these are our main indications of how things are going when everything else is looking good.


The question I often get is, "How is Bennett doing these days?"  And my answer is: We've made it to 5 years and 7 months with no lung infections.  So, he continues to do amazing!

Tremendously thankful for today,

Monday, April 13, 2015

Seriously, how close are we to a cure? CFF State of the Science Update 2015

Several weeks ago, I attended the Cystic Fibrosis Foundation's Volunteer Leadership Conference in Virginia. 

One of my very favorite parts of VLC is the State of the Science because it is when the CF Foundation provides their annual science update.  I wanted to share what I learned there (feel free to watch the entire conference here: http://www.cff.org/GetInvolved/VLCLiveStream/).  

There was a lot packed in to a small amount of time.  But I narrowed down the most important parts of this update to four main points of interest:

1.) Kalydeco Update
2.) An update on the Combo Drug (hopefully to be out this year)
3.) VX-661
4.) 2nd Generation Modulators
5.) Stem Cell Biology/Gene editing
6.) Personalized/Precision Medicine


The "State of Science" at VLC was presented by (from L to R) the Cystic Fibrosis Foundation's CEO Bob Beall, Preston Campbell, the CFF's Executive Vice President for Medical Affairs, Michael Boyle, Director of Adult CF Programs/Associate Professor of Medicine at John Hopkins Hospital and Bill Skatch, the CFF's Vice President for Research Affairs.


This picture demonstrates the five ways the CFTR mutated genes work incorrectly.  At the bottom, it shows how many people have that particular gene.

Bennett's F508del gene is a Class II (87% of those with CF have at least one gene in this group). Bennett's 621+1G>T gene is a Class I (12% of those with CF who have at least one mutation in this class).


There are two ways that scientists are working to help fix the underlying reason for Cystic Fibrosis. These two ways or types of medicines are called "potentiators" and "correctors."  This explanation is super important to understand in order to follow the rest of the Scientific Update.

For those types of CF mutations where the protein is already sitting up at the surface, ready to turn on or ready to work but doesn't work correctly, "potentiators" are considered most helpful.  "Potentiators" are what we call medicines that can open that channel up or potentiate the channel because the channels are already there, they just need help with opening that gate up.   Kalydeco is a potentiator drug.

The more challenging problem in CF, but the one that scientists are making the most progress on, are those genes that benefit from medicines called "correctors."  "Correctors" are those medications that seem to benefit those with CF mutations in Class II - where the protein has not even made it up to the surface yet.  In order to fix this mutation, the protein needs to be moved up to the surface.  The reason it's called a "corrector" is because it corrects the folding so the cell allows it to get to the surface and work.  Lumacaftor is the first corrector drug.  It is believed to benefit those with F508del/F508del mutations.


KALYDECO UPATE: Kalydeco (also known as Ivacaftor) looks like it benefits those with CF mutated genes in Classes III, IV and V.  Another 20 mutations are just about to start being tested in clinicial trials for benefits of Kalydeco.  Kalydeco alone may benefit about 15% of those with CF.


COMBO UPDATE: There is excitement in the CF community because in a few months, the FDA will decide approval on the combination of Ivacaftor (Kalydeco) and Lumacaftor for those with two F508del mutations. Data shows that patients clearly benefit from the Combo drug (although, this drug is not strong enough to fix the condition for those with one delF508 mutation).  If approved, those with the most common CF genetic mutation would take a pill twice a day.  The FDA has set the date for May 12th to meet about the Ivacaftor/Lumacaftor combo.


VX-661 UPDATE: For those, like Bennett, who are not expected to benefit from Kalydeco or Lumacaftor, there is another set of CFTR Corrector, VX-661, that is hugely promising.

I learned during this talk that VX-661 is a drug that the CFF accelerated because of its potential.  Apparently VX-661 wasn't supposed to be in clinics until 2017 or 2018 but the CFF saw potential for this drug and decided to put in 25 million dollars towards getting this to patients faster.

Currently in clinical trials, VX-661 looks like Lumacaftor but works better, has less drug interactions and has a better safety profile overall.

This is a drug Bennett should benefit from. So, I'm very hopeful! They did not give us an idea of when it would be on the market but I do know they are in Phase III clinical trials so happening quickly!

Studies show that the benefit from VX-661 is even better Lumacaftor and may work with those with just one F508del mutation.  So, it could benefit up to 87% of those with Cystic Fibrosis.


Here are the current upcoming studies for those with one F508del mutations.  There is a study for those with two F508del mutations, a study for those with F508del and a Class I mutation (stop codons), a study for those with F508del with a Class V mutation and a study for those with F508del and Class IV mutation.


That covers about 90%+ with Cystic Fibrosis.  I am so very excited!  I have looked in to getting Bennett in one of these studies but, from what I found, these studies are happening in children and adults over the age of 12.  


2ND GENERATION MODULATORS UPDATE:  I'm not just excited for VX-661 for Bennett.  I'm also very excited about 2nd Generation Modulators.

This is a part of the Update that literally went so fast I neither understood it nor valued it.  In fact, I have had to spend several hours rewatching video from VLC over and over again so I could type what Dr. Skatch shared during this few minutes on stage.  This is amazing stuff but it's complicated.  So, as not to mess it up, I'm just going to write what he said had you listened to him speak.

Here is 2nd Modulators explained by Dr. Bill Skatch (pretty much verbatim):

"It's very clear that alot of effort has been put in to CFTR.  And the patients that have these mutations are going to have tremendous benefit.  But some of these things are going to take time and certain mutations are not going to benefit from these correctors. So to reach that 100%, there are several paths we are taking.  One path is to look at other types of treatments or channels.

To explain, you have nice cilia beating and mucus is moving along in the lungs of a healthy patient. But in a CF patient, where there is a defect, that water layer shrinks so cilia can't beat and mucus piles up up.

One of the strategies is to think: are there other ways we can improve that water layer?  Can we restore moisture to the lung that doesn't require CFTR modulator compounds?

So, the CFF is working on several projects that are designed specifically to target for other proteins, not just CFTR.  One of those proteins is a sodium channel.  

As you know, chloride moves through CFTR.  But sodium moves through another channel, that you can consider to be a partner of CFTR.  And it turns out, one of the reasons that water layer shrinks down and collapse is because the sodium channel absorbs too much sodium.

So we are working several companies to develop molecules that will specifically target the sodium channel (it's called ENaC).  If we can shut down that channel, there is good evidence, in the laboratory, that the water layer can be restored. We believe that that will help cilia beat better and help move that mucus up.

The nice thing about this is: it doesn't matter what your CFTR mutation is.  This type of therapy has the potential to work in all CF patients - because all CF patients share that problem with same dehydrated mucus and this very thin layer of water.

So the CFF is working with several companies such as Parion that have very exciting new molecules that can specifically attack the sodium channel."


"The corrector molecules were once a crazy idea - to take a broken protein, that doesn't move through the cell, to repair its folding, get it to the surface and then turn it on.  That seemed really impossible 15 years ago.  But now, in the test tube/laboratory, this 2nd corrector molecule is showing that is as good as Kalydeco.

What's happening now is there is a very large effort, in terms of 2nd generation screening.  There are multiple companies looking at new and better chemical compounds.  Millions of compounds were screened last year.  We are looking at very diverse compounds.  We are thinking, the more we look, the better chance we have to finding the best molecule.

We also got much smarter, in terms of how we are screening.  We are using human airway cells to try to screen how these molecules work.  We are targeting these molecules to specific parts the CFTR protein, because we now have an idea of how the protein is broken.

Our goal is develop modulators - correctors - that will be as good as Ivacaftor in the F508del patient population.

What does this look like?  We are thinking, as we move in to the future, we are probably going to need, for many of the folding mutations, two correctors plus a potentiator - a three drug combination.

That will hopefully to get us where we need to be.  This will hopefully open the door for a large number of CF patients."

"If everything goes perfectly (15% of potentiators + 50% F508del homozygotes + 40% F508del Heterozygotes), that covers about 95% of those CF patients.  But it leaves 5% of CF patients that don't make CFTR that can be potentiated.  

This 5% is very complicated - nonsense, stop-codon, splicing variants, deletion variants, etc.  These are going to require a completely different type of therapy. One way to go after these is to develop therapies, therapies that are applicable to all patients (such as the 2nd generation modulator idea). Another way is we can target these mutations very specifically.

If we look ahead, what do we want to do?  The goal is to take the therapies we have and make them better until we have a cure for all patients."



"We know what the problem is.  The problem is in the gene, the DNA.  It's a mutation, small deletion, which is altered.  That mutation is translated into RNA. And the RNA in the cell is a template from the DNA.

So, if you have a mutation in your DNA, that mutation is then translated in to the next step of the biological problem, which is RNA.

RNA is used to make protein.  So the defect of the the RNA is then translated in to the protein defect. And the protein, if it's CFTR, is what causes symptoms.  So, this paradigm is very basic in biology.

For the past 50 years, the CFF has been working on the symptoms - better therapies for the the mucus, better therapies for the infection, better therapies for nutrition.  This has had a tremendous burden on the patient in terms of the amount of effort and time.  But it was had tremendous affect on  lifestyle and lifespan and making life better.

We are now entering in a very early stage, of moving backward along a path to get to the more basic defect.

When we talk about correctors and modulators, we are talking about protein-based therapy. Those molecules work on patients that have specific types of protein abnormalities.  But some mutations don't allow the protein to be made.  In some patients, they don't make the so modulator therapy will never work.  Those patients need different types of therapies.  One of those therapies is to move back on more layer is the RNA.

That RNA molecule may be manipulated in a couple of ways.  One, in a project we are working with Shire, is to simply take normal RNA and put it back to patients.  If we can take normal RNA in to cells, then those cells will make normal protein and that normal CFTR will function in any patient.

So there is a lot of challenges for this.  But we are very encouraged by the results of Shire.  Shire is moving very quickly. We hope to have RNA therapy coming in to patients within a year to two, maybe by the end of this year, but hopefully in 2016.  We just committed 15 million dollars to that."



STEM CELL BIOLOGY/GENE EDITING:: "The CFF is also working on ways of addressing stop codon mutations, specifically.  The CFF recently put in 6.7 million dollars into a company called PTC to try to develop a molecule that will help the ribosome read through to those stop codons to make the protein.

It was unfortunate that that molecule did not work as well as had hoped.  But have not given up. We are going back and starting several collaborations with new companies to look for better and more effective molecules that will work on these stop codons and nonsense mutations, specifically, to allow the protein to be made, which then can be potentially augmented by potentiators and potentially correctors, if the protein doesn't fold correctly.

How about the one time cure? If we could go back to the DNA...if we could prepare the DNA in the cells that need to make CFTR, then those cells would make normal CFTR and all of this process would be completely normal.

Five years ago, this was an absolutely impossible dream. But what has happened in the last five years is there is some very exciting technology, where you can go into the cell and highly specifically target regions of the protein, regions of the gene, that are defective and repair those defects.  This is called gene editing.

There are a couple of ways to go back about this.  There are a lot of technical difficulties to make this work.  But this is tremendously powerful and really provides, for the first time, the ability to go into the cell and remove the CFTR defect.  Instead of treating the disease, this is essentially removing the disease.

One way this might work is to take cells out of the lungs of patients, identify which cells are the critical cells needed to restore the airway, go in to those cells and edit the CFTR gene so that now it makes that normal protein and put those cells back in to the lungs of patients - have those cells grow, reproduce and populate the airways, then it would be possible to basically eliminate the need for correctors, potentiators or any other kind of therapy

Just last week, we brought 30 investigators who are experts in stem cell biology to the CFF.  We had a fantastic discussion about what cells we need to target, how to the cells behave, how do we grow them so they can actually graft in lungs etc.

I will say there are many obstacles but it was a very encouraging discussion. There are a group of scientists out there that are really excited to work on this problem.

In December, we invited a group of scientists to the Foundation to talk about gene editing.  We are bringing those people into the CF field.

This is where we would like to go.  This is a long project. There are many obstacles. So, we see this as a long term goal but as a way to totally transforming the disease.

PERSONALIZED/PRECISION MEDICINE:
As we look forward, we are looking personalized medicine or precision medicine.

One of the key roles is the maximize the function of CFTR.  This means we take the patients particular mutation, their genotype, and we target therapies that will maximally allow that genotype to function.

We want to combine the best types symptomatic therapies with the best type of genetic therapies (protein-restoration therapies).

Many patients today are going to continue to need symptomatic therapies.  We are going to continue to work on better therapies.

We hope as we bring these new types of therapies to younger patients in children and restore CFTR function, then those individuals will never need any type of symptomatic therapies.  This is our overall goal."

This was a fantastic update.  Here's the bottom line: My heart is overwhelmed with hope.  For most of those with CF, we are SO close!!  And no one is going to be left behind.

Monday, April 6, 2015

The CF Care Center Accreditation Process

I recently had a chance to learn more about the Cystic Fibrosis Foundation's CF Care Center Accreditation Process, the process that makes sure the care that Bennett is getting at his quarterly CF Clinic appointments is at or above standard, as a part of the work I've been doing with the CF Care Model Redesign and during my trip to the CF Foundation's Volunteer Leadership Conference.

I found learning about this CF Care Center Accreditation process to be incredibly valuable to me as a CF caregiver.  The more I know about what goes in to Bennett's care, the better I can be about paying attention to whether or not he's getting the best of care.

I know other CF families feel the same way.  So, I wanted to share my learning with other CF patients and families who might be interested in the nuts and bolts of how a CF Care Center is accredited.

This information came from a presentation by Bruce Marshall, director of clinical affairs of the Cystic Fibrosis Foundation.  Feel free to watch the webinar presentation yourself here: https://vimeo.com/122527397.  I'd love to hear comments at the end of this post as we continue to look for ways to improve it!


So, what is a "CF Care Center" and why it is important?
CF Care Centers are medical clinics within a local hospital partially funded by the CF Foundation that operates multi-disciplinary care for those with Cystic Fibrosis.  There are more than 110 cystic fibrosis care centers and 55 affiliate programs nationwide, including 96 programs for treating adults with CF. (Affiliate programs are smaller CF Care Centers who report to a larger CF Care Center.)

Typically, a CF Care Center includes at least one CF doctor (typically either a pulmonologist or pediatrician with CF training), a nurse, a respiratory therapist, dietitian and a social worker.  Those who work at the CF Care Center are considered part of the CF Care Team.

According to the CF Foundation, "this high quality of specialized care available throughout the [CF Care Center network] has led to the improved length and quality of life for people with CF."

Slide is from presentation from the CF Foundation's Volunteer Leadership Conference 2015.

The History of the CF Care Center Model:
CF Care Center Accreditation started in 1961 with the accreditation of two centers.  This Accreditation took place only 6 years after the Cystic Fibrosis Foundation was formed in 1955.  CF Care Center Accreditation was one of the first initiatives of the Foundation as a way to prolong survival.

In the 1960s, 1970s and 1980s, there was rapid growth of accredited CF Care Centers, mainly in pediatric programs as CF was primarily a pediatric disease.  In the 1980s, however, adult programs really begin to grow.  In the mid to late 90's, adult model programs were evaluated.

In 2000, the CF Foundation began mandating that all CF Care Centers provide adult programs.  These adult programs ranged in a spectrum from CF Care Centers providing adult-oriented CF physicians but sharing the pediatric CF clinic's multidisciplinary team all the way to true CF Adult Care Models, which included a separate and distinct adult CF Team.

In the last year or two, the last pediatric-adult shared programs have separated so that now all adults with CF at every CFF Accredited Center have access to their own adult CF Team.  Now in the US, we now have a mature pediatric and adult care model for all of those with Cystic Fibrosis.

The Accreditation Structure
There are 4 explicit standards that makes a CF Care Center an approved Cystic Fibrosis Foundation CF Care Center.  They are:

Physician Leadership - properly credentialed physicians and physicians experienced in CF care
A multidisciplinary team - such as a respiratory therapist, dietitian, social worker.  Other team members can include a pharmacist, physical therapist, psychologist, chaplain, a patient advocate, etc.
Participation of the CF Clinic to participate in the patient registry, an IRB patient-consented observational study that is used to evaluate much of CF care.
Meeting of clinical teaching and research requirements


The CF Care Center Accreditation CommitteeThese four standards are enforced by a CF Care Center Committee, made up of 9 pediatric and 9 adult CF Care Center Directors, elected representatives from pediatric, adult and affiliate programs. Committee members serve two year, renewable terms.

The CF Care Center Committee's Mission Statement is "to support the CF Foundation Mission by fostering exemplary care of all individuals with CF through: promotion of standards of care, accreditation of care centers, education of providers and advancement of research in all aspects of CF."

The Committee meets twice per year, typically in May and in December for 1.5 to 2 days each time. During these meetings, the Committee evaluates those CF Centers visited during the previous months.  All CF Care Centers are visited by the Committee and are evaluated for accreditation every 3-5 years.



The Accreditation Process
There are two core processes of the Accreditation Process.
They are:
1.) site visits are made by Center Committee members and
2.) annual updates submitted by centers.

The Site Visit Process
When a CF Care Center is visited by the CF Care Center Accreditation Committee, the in-person visit typically last a day or day and a half.  Typically there are two visitors who attend the site visit (usually a pediatric and an adult CF doctor).

During this meeting, the Committee representatives meet with institutional leaders (aka the CF Clinic director, the hospital directors, etc.).  The Committee does a comprehensive assessment of the center.  They look at the clinic, the personnel, the facilities, key labs to CF care (such as the sweat test and microbiology labs).  They do a chart audit and hear report outs of teaching and research, as well as quality improvement.  Sometimes, but not always, the Committee members will meet with the CF Patient Advisory Board.

Once the site visit is complete, the Committee members will get together to share and review their Site Visit findings.  During that meeting, the Committee will go through all centers considered in that 6-month cycle.  A decision is made on accreditation status of each Clinic evaluated.

Accreditation possibilities include:
* Accredit
* Accredit with contingencies (pending immediate action)
* Accredit with provisional status
* Disaccredit

Once a decision is made, critiques based on the site visit are written down and are sent in a letter form back to the CF Care Center, at which time the CF Care Center is notified of their accreditation status.

After revealing the accreditation status of each center, the Committee requests a response from the CF Center.  CF Centers are given a short amount of time to respond via letter regarding the Committee's findings. (aka, if the Committee states the CF Care Center is losing their accreditation, the Committee lists in the letter why the CF Clinic is losing their accreditation.  The CF Clinic then has some time to write a letter back to the Committee stating their challenges and how the Committee can expect the CF Clinic to respond.

Annual Updates
Since not all CF Clinics are visited yearly, there is an important aspect of accreditation that continues. This is done through "Annual updates." Annual updates are sort of like progress reports from the CF Center to the CF Foundation each year.  Questions are asked regarding the CF Clinic's strengths, weaknesses and challenges.

If the CF Foundation sees a problem with one of these annual updates, the institution will be flagged for an early site visit and the Center Committee is notified.  If there are no problems, the CFF will provide accreditation approval and they stay on their 3-5 year cycle of Accreditation.


So, once a CF Center is Accredited, then what?
So, center sites visited in the previous year are eligible for the "Quality Care Award" based on evidence of "sustained quality improvement resulting in improved outcomes.  The CF Foundation provides recognition of the Center/s who receive this award at the NACF Conference. 

Benefits of Accreditation
The benefits of a CF Care Center being accredited includes:
* Accountability - ensures standards are met

* Ideas for improvement - host centers and site visitors benefit from visits to other CF Care Centers
* Securing resources from institution - when a CF Care Center must meet requirements set forth by the accreditation process, this engaged the institution to support the CF Care Center in meeting these requirements for fear that otherwise, the CF Care Center will not longer be accredited (something that the host institution such as University or hospital would not want to see is the CF Care Center brings patients to its facilities)/
* Public recognition of excellent performers - CF Care Centers can be the pride and joy for awards and their institutions.  They can be model for all other centers.

Here's an example of how well CF Care Centers work for CF patients.  The picture below shows data from CF Care Centers with regard to their patient's FEV1 vs BMI percentile.  In 2002, CF Care Centers were scattered in all four quadtrants.  Some were doing amazing in one area or in the other.  Some were doing amazing in both.  Others were not.  But, as CF Care Centers worked to find solutions, they began to figure out better ways of caring for CF patients.  In 2012, the same data shows that most CF Care Centers were amazing in both areas.  This is the power of working together and fighting for a goal of better health outcomes for CF patients:

Current New Initiatives for Care Center Accreditation
The CF Foundation recently indicated there are several new initiatives for Care Center Accreditation.  They include:
* The Patient and Member Experience Care Survey - already 107 (about 40%) of the 265 CF Care Center programs have participated
* Revising accreditation criteria and bolstering struggling centers (such as allowing for independent pediatric and adult programs - as long as transition in place, relaxing the teaching criteria and allowing referrals for clinical trials to count towards research criteria
* Facilitation greater CF Foundation and core center oversight of affiliates

Slide is from presentation from the CF Foundation's Volunteer Leadership Conference 2015.

New Program for Affiliate CF Care Centers
To facilitate great CF Foundation and Core Center oversight of affiliates, the CF Foundation has recently begun a program called the Targeted Assistance Program (TAP).  This program provides:
* data-driven approach to selection (registry data, experience of care survey data, site visit reports and annual updates, staffing levels)
* intervention team comprised of peer clinician
* reporting to center committee
* improvement plan with timetable
* investment of resources of CF Foundation and the institution

In the slide below, you can see how CF Care Centers are doing in their measurement of patients (6-17 years old) with their FEV1.  Most CF Care Centers (represented by black dots) fall within the mean (represented by the gold line).  However, a few CF Care Centers are doing much better than the mean (see the green dots) and some much worse than the mean (see the red dots).  Note that 5 of the 6 red dots are those CF Care Centers who are CF Care Center affiliates.  This is just one of the reasons why the CF Foundation has put in to place the Targeted Assistance Program.  Nobody wants to go to a CF Care Center well below the mean.

Slide is from presentation from the CF Foundation's Volunteer Leadership Conference 2015.
This blogpost packs in a TON of information.  But I wanted to blog about this process for two reasons.  One, I wanted to blog because this information - information about the CF Care Center Accreditation Process is hard to find.  The CF Foundation's website does not list much, if any, of this information.  I wanted to share it with other CF families.  The second reason I wanted to share is because, as a part of my work with the CF Care Center Redesign, I have realized that while there are SO many wonderful processes in place to help our CF patients get and stay well, there are many aspects of CF care that need to be improved. The Accreditation Process is one of those.

Here are the things I'd like to see about the Accreditation Process improved:
1.) I'd like CF patients/caregivers involved in the accrediting our CF Care Centers.  The patient/caregiver voice is vital to improving CF care.  We need structured and integrated input from CF patients/caregivers when choosing to accredit CF Care Centers.

2.) I'd like more transparency about our CF Care Centers accreditation process.  When CF Care Centers lose their accreditation, it is simply taken off the website.  Passive communication about a CF Center's accreditation or lack thereof cannot help CF patients make informed decisions.  As much as I absolutely *loved* learning about the ins and outs of the CF Care Center process, I was disappointed that I had to be involved knee-deep in a project that the CF Foundation is supporting before I could get access to this extremely beneficial information.  I want information like this to be more accessible for all CF patients/caregivers, not just those involved in particular projects with the Foundation.

3.) Not only do I want to know how my CF Center is doing in the accreditation process, I'd like to know how other CF Care Centers are doing with their accreditation. The CF Foundation gives out Quality Care Awards at the NACFC.  But, the problem with NACFC is it's nearly closed to CF patients and caregivers attending.  So, I would like to know who is winning awards, why and how. Knowing my clinic or other clinics are doing well only helps me better understand the kind of care my child might be receiving at their CF Care Center.

3.) I appreciate the current Accreditation Process, but I'd like a Process that pushes my CF Care Center to go beyond minimal standards.  I am incredibly grateful for the process we currently have in place.  The CFF Accreditation Process helps to assure Bennett is at a CF Care Center that, at minimal, is up to CF standards in his care.  But I want more for Bennett and for all those with CF.  At this point, there is no direct way for CF patients/caregivers to know how their CF Care Center is doing compared to others around the country.   I'd like to see the Accreditation Process adopt some type of higher recognition of CF Care Centers that are providing care beyond the minimal accreditation standards.

Sunday, April 5, 2015

Easter 2015

"Hoppy" Easter from our little bunnies to yours!


The Texas Bluebonnets are blooming this week.  So, we decided to make our Easter pictures our Bluebonnet pictures, as well!  

While taking pictures of the children playing among gorgeous wild flowers, I couldn't help but feel God's closeness and recognize his faithfulness.  

Every Spring, God sends us flowers.  Every morning, a sunrise.  (Max Lucado)



“Because children have abounding vitality, because they are in spirit fierce and free, therefore they want things repeated and unchanged. They always say, "Do it again"; and the grown-up person does it again until he is nearly dead. 

For grown-up people are not strong enough to exult in monotony.  
But perhaps God is strong enough to exult in monotony.


"It is possible that God says every morning, "Do it again" to the sun; and every evening, "Do it again" to the moon. It may not be automatic necessity that makes all [bluebonnets] alike; it may be that God makes every [bluebonnet] separately, but has never got tired of making them. It may be that He has the eternal appetite of infancy; for we have sinned and grown old, and our Father is younger than we.” 
-- G. K. Chesteron, Orthodoxy



Oliver, 7 years old; Avonlea, 21 months old; Bennett, 5 years old

Saturday, March 28, 2015

"...until there is a cure."

I won't be able to find a cure for Bennett alone.

This is why it is so incredibly meaningful when a friend shares Bennett's video on Facebook, or when a friend retweets Bennett's story on Twitter, or wears our Bennett's Brigade t-shirt, or walks (even leads) a Great Strides Walk or gives a donation to the CF Foundation in honor of Bennett.


Just last night, my friend Jenny was on Facebook asking to purchase a Bennett's Brigade t-shirt for her son to wear at the St. Charles, Missouri Great Strides Walk.  When I double-checked on the size t-shirt she had ordered for her little one, she explained that she was buying a size up for Alex to "last him a couple of years" because, she said, "we will do this until there is a cure."

I cried.

With those 9 little words, Jenny reminded me how I am not alone in this.  Not now.  Not later.

As Bennett's mama, I know I will do this year and after year.  I will walk.  I will ask for donations.  I will share his story.  But always lingers a little fear inside me: "Will this year be different? Will anybody come?  Will anybody give?  Will anybody care?"

Each year, I fear I am alone in this.  And yet, each year, I am gracefully shown: I am not.

The Great Strides for a Cure for CF Walks that Bennett's Brigades participate in all around the country are about hope.

Our Walks are celebrations of the money raised, to date, for a cure - and celebrations of the support and love that surrounds Bennett as he fights this terrible disease.  I am so touched that there are friends who I haven't seen in more than 15 years who are leading Walks in their areas, asking for participating and donations from their friends for my son.


This weekend we have to finalize our order for our Bennett's Brigade tshirts.  If you haven't already gotten one and want to, please email me at breckgamel at yahoo.com by Monday, 3/30.  It's hard to believe Great Strides 2015 is here!!

For anyone interested in walking or donating in honor of Bennett at any of our CF Great Strides for a Cure Walks across the country, please sign up or donate using the links below:



Thank you to the many of you who remind Brian and my family that we are not alone in our battle with Cystic Fibrosis and our efforts to find our son a cure.  It is the consistent love and support that brings us hope in the midst of despair!

We are so honored to have you join with us in this fight!!  We're #InItForBennett!!

Wednesday, March 25, 2015

Advocating on Capitol Hill for Bennett

This past week, I traveled with all three kids to DC to advocate on Capitol Hill for Bennett and all those with Cystic Fibrosis  (Brian had to stay back to work).  This year, I took Oliver to advocate with me.

This was my third year to participate in the Cystic Fibrosis Foundation's annual "March on the Hill" day in Washington DC.  It is a special day where the CF Foundation arranges meetings with Congressmen and their staff so CF caregivers, friends and family can communicate our need for a cure.  

Those with Cystic Fibrosis are not allowed to come to CF events such as this one, due to infection control issues.  The CF Foundation recommends that no two people with CF be within 6 feet of each other as they can inadvertently get each other sick.  So, while Bennett couldn't be there.  Oliver was there for him instead.  (My mom watched Avonlea and Bennett for the day.)



After a morning of training, more than 100 CF advocates emerged on Capitol Hill to speak on behalf of those with the disease.  One of my first appointments was with Congressman Barton (who happens to share a birthday with me - random!).  I attended this meeting alongside the Northeast Chapter of the CF Foundation's Executive Director, Amy, and Debbie, also from Dallas, whose sister died from CF in 1979.



I just had to mention this sweet lady, Krista (in red), Congressman Barton's Counsel and Legislative Director because she was absolutely fantastic.  She knew so much about CF before we ever came, because she studied up on it.  To my surprise, Krista had already found Bennett's video and was incredibly up to date with the newest information about CF as she had recently attended a meeting put on by the CF Foundation for Congressmen and their staff.  Krista was such a delight to meet, making our first Congressional meeting a really great one!  

As CF advocates, we had several requests when we met with the Congressmen and their staff.  First, we asked them to support the EACT (Ensuring Access to Clinical Trials) which makes permanent that those with rare diseases who participate in clinical trials not have to count as income up to $2,000 in compensation which they receive for participating in those clinical trial.  Doing so has previously jeopardized the health insurance and social security disability benefits of those with rare diseases like Cystic Fibrosis.

This is particularly important issue for those with CF as 1 out of every 2 children with CF and 1 out of every 3 adults with CF are on Medicaid and/or Social Security Disability.  It would be very sad if patients had to face the choice of participating in clinical trials, which helps the entire CF community, OR losing their health insurance because they made too much money due to clinical trial compensation.

Cystic Fibrosis is an orphan disease.  That means the number of CF patients in the US is small. Those who qualify for clinical trials for CF drugs is even smaller.  I'd hate to see that even fewer patients would be available to help us test a cure.

The good thing is the EACT has been the law for the last few years but it had a "sunset" clause on it, which meant it expired at some point.  Now, there is an effort to make EACT in to a law permanently.  It's a bipartisan effort and hopefully should pass.



On our second visit of the day, our team met with  Congressman Pete Sessions.  Congressman Sessions was very playful and seemed to really enjoy having Oliver in his office (as seen by the picture above).  Sessions shared he is also a caregiver of a child with special needs as he has a son with Down Syndrome.  It was nice to be able to see Congressman Sessions as a father and caregiver, just as I hope he saw us as desperate parents wanting to make way for a cure.

Outside of asking for the Congressmen to support the EACT, we asked for robust funding for the National Institutes of Health (NIH) and FDA.  Both government departments are crucial to the Cystic Fibrosis Foundation's research for a cure.  The CF Foundation uses basic human research, supported by the NIH, to build upon our own research.  Once a medication is found, the CF Foundation works diligently and swiftly with the FDA to get the drug to market as fast as possible.  The CF Community raises it's own money for a cure but uses help from the NIH and FDA to help expedite a cure.



Another Congressman that we had the privilege to meet was Congressman Bill Flores.  I have met with Congressman Flores for the past 3 years and greatly appreciate his sincerity every time.  Oliver and I are constituents of Congressman Flores and really enjoy having created a positive relationship over the years.  Texas has around 1,744 CF patients and 16 CF Care Centers.  Scott and White, one of Bennett's hospitals, is in Congressman Flores' district.  


We enjoyed meeting with all of the Congressman.  But, Oliver's favorite Congressman is the one best known to him as "Pops."

Congressman Fleming was actually on his way to votes after our meeting with him so he invited his grandson to help him vote on the House floor - something only children get to do. I had to watch from the Gallery.  But here is where Oliver did the most for CF on Capitol Hill and didn't even realize it:

On the floor of the US House of Representatives, Oliver helped his "Pops" vote.  But, between votes, different Congressmen, delighted to see a child on the House floor, came up and spoke with him.  I watched from the Gallery as he shook hands with men and women who represented states near and far.

I knew Oliver wasn't exactly able to capture in his little mind what a cool thing he was getting to do. But I was soaking it up for him, watching from above.  I watched my little first grader speaking with the adults, sitting there in his little khaki's and button up shirt, looking around, listening to the sounds of the gavel being hit and watching the lights brighten up as votes were cast.

At one point, Oliver seemed to unknowingly catch the attention of Congresswoman Debbie Wasserman-Schultz.  This is most interesting because it seems that often the Republican Representatives and the Democratic Representatives tend to mingle together in their respective parties on the House floor during votes.  But Congressman Wasserman-Schultz is a Democrat.  Congressman Fleming is a Republican.

I watched as Congresswoman Wasserman-Schultz came over and began speaking to Oliver, who was standing beside his grandfather.  She struck up a conversation with Oliver and then with Congressman Fleming, who at some point mentioned to Congresswoman Wasserman-Schultz that Oliver was doing something important at the Capitol today - he was advocating on behalf of his little brother, who has Cystic Fibrosis.

I could see there was some sort of agreement going on between the three of them.  But I couldn't tell what.  Later, I learned that during that conversation, Wasserman-Schultz shared with Oliver and Congressman Fleming that she knew what Cystic Fibrosis was.  In fact, she revealed, she has an extended family member with the disease.  And to my surprise, she then turned to Congressman Fleming and said, "Look, I'd love to help.  I'm on Appropriations [Committee].  So, call upon me for any help."

What a powerful moment for me, as a mother, to see my son, on the floor of the US House of Representatives, connecting two legislators who came together, across party lines, in support of those with Cystic Fibrosis.  Oliver had done it.  He had gone to Washington DC, advocated for his brother, and walked away with another fighter, US Congresswoman, in our corner.  I couldn't have been more proud of him.  

Oliver's treat for such a great job: Ice Cream at the US Capitol's Creamery!


I wanted to make sure that I mentioned my friend and fellow CF mom, Rebecca, who became the CF Foundation's newest National Advocacy Chair.  Rebecca and I first new each other only via Facebook through the "CF Mamas" Facebook group.  Now we are real life friends.  It's pretty neat.  I am very proud of having Rebecca in this place.  One of my favorite things Rebecca said during the event was, "CF Advocacy is not political.  It's personal."  This is so true.



At the end of March On The Hill, the CF Foundation invited my dad, Congressman Fleming, to speak to all of the 100+ CF advocates that joined March On The Hill for a dinner.  Senator Markey (not pictured) also spoke.  After dinner, the CF advocates who represented their family members and friends on Capitol Hill shared their stories of the day.  It is always so amazing to hear how receptive our legislators are to our message:  "We are close to a cure.  Help us make that happen faster!"




I am thankful for a father who is not only supportive of his little grandson's daily fight against CF but who is a champion in the United States House of Representatives for all those with Cystic Fibrosis!



And I am thankful for a little 7 year old who advocates for his little brother, not just each day at school and at home, but also in our nations' Capitol.

Sunday, March 15, 2015

Bennett's Story, through the eyes of children



This year, I let Oliver and Bennett tell what it's like for them to deal with Cystic Fibrosis every day.

I was really touched by their sweet comments and how this topic brought up emotions so naturally for the both of them.

To my surprise, both my five year old and seven year old understand cystic fibrosis really well.  Watch Bennett light up at the end when he talks about "all the people."

Help us find a cure for Bennett: http://fightcf.cff.org/goto/bennettsbrigade2015.

Thursday, March 12, 2015

If I can't have a better MyChart, maybe I can hack the system?

I recently wrote a blogpost about patient portals and how one of the most popular patient portals, EPIC's MyChart, fails patients/caregivers like me.  Part of the main reason MyChart doesn't work for me is because it works around the doctor/hospital's needs and not mine, as the patient.

So I thought I'd share a few of the ways I wish my hospitals' Patient Portal worked better (see below) as well as share resources I've found that go beyond the Patient Portal and allow me to hack the system so I can get better care for Bennett until my hospitals' patient portals catch up.  

Five Requests of My Own MyChart Patient Portal:
1.) Give me initiation access to my clinicians.  I wish MyChart allowed me to contact my clinicians when I wanted to, rather than having to wait for them to contact me first.  Without electronic access, I am forced to call my hospital's answering service.  If I am able to leave a message, the clinician calls me back.  About half of the time the clinician calls me back, I accidentally miss the call, which usually means we play phone call throughout the day and sometimes in to the next day.  How much easier it would be to be able to contact my clinician electronically, at the best time for me AND the clinician can contact me back at the best time for them.  It's a better use of their time and mine.    

2.) Give me access to my health records, including Bennett's X-ray and CT scan images.  By having access to what my doctor knows about my son's condition, I am better able to ask thoughtful questions and have meaningful conversation during our clinic time.  Access to Bennett's records make me a better and more empowered patient/caregiver and gives the clinician more time to do other things as well.  I find it potentially harmful not to have access to Bennett's records because without access, there is a chance that I will miss something that otherwise might be considered or caught.  Although my clinic gives me a paper handout of our CF Care "Action Plan" after ever visit, this paper easily gets lost at home.  Why not have this information online like the way I organize the rest of my life? 
This is the kind of image I'd like access to electronically.  The way I currently hack the system is by taking pictures of Bennett's images from the doctor's computer screen at Clinic.  But there has to be a better way.
3.) Give me trend data on my son's test results.  I wish MyChart showed me how my son's test results have changed over time, particularly with regard to weight.  Weight is such an issue for CF patients.  I'd like to see how Bennett has been doing and study at what points he was doing better or worse to see if there are more things I can do to help him continue to put on weight and stay healthy.

4.) Allow me to pay a bill online.  As is often the issue for patients of chronic diseases, I'm drowning in medical bills.  I'd love to pay online and stop the overflow of bills I receive in the mail each month.

5.) Send me appointment reminders.  My hospital's MyChart sort of already does this.  But what if MyChart actually sent me a Google Calendar or iCalendar reminder that put my appointment right into my calendar?  How amazing would that be?

Since, at this point, my hospitals' patient portals do not provide me this kind of healthcare access electronically, I wanted to share a few resources I have found that are beginning to help patients bridge the gap between what currently exists and what patients like me still need:

Three Patient Portal System "Hacks" I'm Using For Now
PicnicHealth
This is a phenomenal resource and one I am *so* excited currently exists.  It allows patients to see their own medical records, INCLUDING their x-ray and CT images!!  It's a paid private service that serves the patient and works with the patient's hospital/clinics (all of them!!) to get the data all in one place.  While PicnicHealth hasn't yet optimized their platform specifically for Cystic Fibrosis care just yet, even in it's current state, it's incredibly helpful for complicated patients like Bennett with chronic diseases.  Check out this demo: https://demo.picnichealth.com/#timeline  


* CareZone

This is a free app that I really love because it allows me to scan my prescription bottles in to the system using my smartphone camera and then keeps all the important information in my app database so that I can always have access to Bennett's up-to-date medication list (such as we often need when I visit a new doctor).  In addition, CareZone has a reminder feature that tells me when Bennett's prescriptions expire and when meds need to be refilled.  I also love that I can indicate through the app when we take a med so that I can actually keep track via percentage of how well we are doing each week adhering to our medication routine.  This tracking helps me focus on the one or two meds that we sometimes seem to forget so that we can evaluate if there is a better time or day or better system at home we could put in place in order to make sure medication is given.

* BetterPHA

This isn't an patient portal but it does things that the patient portal might otherwise do - such as contact my CF care team, set up doctor appointments or reordering meds - and so much more!!  BetterPHA (the PHA stands for Personal Health Assistant) is a service that patients access through an app.  Although the service is not free, BetterPHA seems well worth the price for all that it does. The way that it works is BetterPHA assigns patients their own personal health assistant/live person whose sole job is to make your life easier when it comes to the cognitive burden of healthcare.  The sky is the limit on what BetterPHA can do.  But the things I've asked my PHA to do include refilling meds, scheduling Bennett's CF appointments, requesting records from Avonlea's pediatrician to update her school records, researching nebulizers, adding my family to the Pulmozyme Co-pay Card program and looking in to insurance issues.  BetterPHA is a unique service for both patients and caregivers, CF or not.  I highly recommend!

* SmartPatients

This free website is really fantastic for connecting patients together centered around meaningful conversation.  I am currently a part of a fabulous and very robust Facebook group called "CF Mamas", the one thing the CF Mamas Facebook group can't do is open the conversation up to other patients in similar situations.  So, I really love how SmartPatients allows patients from other communities, such as the IBD/Crohn's or COPD community to share their experiences.  What is it like to raise a child with a chronic illness?  How do you create a Parent Advisory Council at your hospital?  What are the best pharmacies in the area?  These are all questions that could benefit from conversation with a larger community.  

While the two resource below are are not currently accessible to me, I believe both of the following resources offer some really great patient-centric ideas.  One day, if we ever have a CF-specific Patient Portal/Dashboard, this is the kind of stuff, I'd hope it could do:

* iHealthNY - I ran across this website recently and had hoped it was available for more than those in NY but apparently it's a custom-made dashboard for NY residents.  It's not something patients like me can utilize but I think it has some really wonderful elements that I wish CF patients had in a CF Dashboard.  Things I love most about iHealthNY include: access to your health record, quick access to your healthcare team, searchable interface that searches both the internet and your own records, medication information

SolutionReach - I don't know much about SolutionReach except that I came across their video about their service and I think they are on to something.  For example, SolutionReach, a patient portal advertised to medical/dental practices says they allow the patient to check in online (think: no more CF clinic waiting rooms!), gives patients a way to provide reviews on their doctor and clinic experience and access to useful feedback surveys.   Although this video and this service is meant for clinicians, I very much wish some of the elements in SolutionReach were elements I had access to in MyChart.  See their video here: http://youtu.be/2OmGg61AVxQ

Monday, March 2, 2015

Why MyChart isn't My Chart

For the average patient, patient portals aren't that interesting or necessary.  But, for those who deal with chronic illnesses like Cystic Fibrosis, patient portals can be extremely beneficial in health care.

Over the last few weeks, I have been working diligently on a number of projects within our efforts to redesign the current CF Care Model.  I have been participating in "environmental scans" of different aspects of CF Care - looking at the current way of doing things and looking more deeply in new ways of doing things.  One of CF care aspects I have been most interested in evaluating is the patient portal system.

One of the most popular patient portals available these days is EPIC's MyChart.  In fact, both of current Bennett's hospital systems (Baylor/Scott and White and Children's Medical Center - Dallas) use the MyChart patient portal.


At the CF Care Model redesign meeting several months ago, discussions began dreaming up ideas for a "CF dashboard" of sorts - a web-based interface that would provide individually relevant information about where we have been, where we are and where we might be going in our CF journey (specific ideas included in a CF dashboard might be tracking patient data, access to medical records, access to CF registry, list of medications, instant connection to our CF docs, etc.).

But, I have found some gentle push back on the idea of a CF dashboard.  Usually, I find those who aren't very interested in the concept will say: "Why would I need something else? I already have MyChart."

Well, I recently thought to myself: "Self, maybe I should list my reasons why MyChart doesn't work for me and why I need more.  So, that's what I did.  In this post, I will list why MyChart isn't good enough for patients with chronic illnesses.  And in a following post, I'll share about some current resources that offer more.  I'd love feedback from others in the CF community or chronic illness community on what works and doesn't work with regard to patient portals and MyChart.

Why MyChart isn't My Chart

1.) MyChart provides very little actual patient health information. 

MyChart allows the doctor/health system to determine what information to release to the patient. While some hospital/doctor systems do release some medical record information, both of Bennett's hospitals release almost none at all.  What good is an electronic medical record that patients have access to if they don't have access to their information?

For example, here's a side-by-side picture of both of Bennett's hospital systems' MyCharts and the information we receive in his MyChart:



It's obvious, there is hardly anything of value in Bennett's MyChart, except maybe his vital signs.  If I would ever want to go back and read about Bennett's clinic visit - what we talked about, what his doctor decided to do in the way of treatment, etc., I would not be able to rely on his MyChart.

The only notes from Bennett's last clinic visit state the obvious: "Patient seen in clinic today."

Since MyChart doesn't provide Bennett's medical records, if I would like a copy of them, I have to contact the hospital and to get a paper copy of his medical records which often takes weeks and costs money to me as the patient/caregiver.

2.) MyChart is poorly organized.  


There is no search feature or ability to find information quickly.  Therefore, I must scroll through all of Bennett's test results to find the one I'm looking for.  Since we have tests at each quarterly appointment, it doesn't take long for that list to be extensive.  This makes it very difficult to compare his test results very easily.



3.) MyChart is driven by the doctor/hospital system, not the patient.

I don't control much of anything in MyChart.  My doctor does.  For example, I cannot send self-initiated messages to my healthcare team.  I can only reply to messages my healthcare team has sent me.

I can get test results, but only some of them, and only the one my doctor initiates.

I can get appointment reminders. And if, and only if, my hospital provides me access, I can create a new appointment through MyChart.

Refills can be requested through the app...but only for specific listed medications, the ones the clinic decides to make available.

I prefer to have a patient portal that is patient-centric, not hospital/clinician-centric.

4.) For every hospital system of which we are a patient, we have a different MyChart.

Bennett has been cared for by three separate CF care centers/hospital systems over the course of his five years.  That means that I have to flip back and forth between his different patient portals.  This is what the healthcare industry calls "a silo" - a separation between two parts causing the inability to communicate.

I do like that the patient portals do allow for multiple patients in the same system.  But, for Bennett, we need one system for all of his hospitals and specialists.
See the red notification under "Heath Reminders?"  To turn off the notification, I have to call my clinic, find the appropriate person and ask for it to be taken off.  Ain't nobody got time for that.




5.) The patient has no ability to input information.

See the little red notification in the image below?  I can't make that go away.  It's a notification on the hospital/clinician's side of the patient portal indicating Bennett needs to get a flu shot or his immunizations - things he got months ago.  But, since MyChart is controlled by the hospital/clinician, the only thing I can do to get that little red notification away is to call my clinic and track down the right person who can click the right button to make that go away.  Ain't nobody got time for that.

It can be very frustrating that MyChart is mainly used by the hospital/clinic to push information to the patient, rather than working with the patient to share information.



6.) Patients cannot sign up for MyChart with their phones.  

They must log on to a desktop version of MyChart first.  This is difficult for patients who don't have access to a desktop/laptop, which is so very many patients these days as most Americans access the internet through their smartphones.


In my next post, I'll share some of the current patient-centric portals that exist that I would love to see accessible for patients, particularly those with chronic illnesses like cystic fibrosis.  My hope for posting this information on Bennett's blog to help facilitate a change for patients like Bennett who need greater access to medical records for better healthcare.