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Barium Enema and next steps for Bennett's Stricture...

Sunday, January 8, 2017

Until most recently, Bennett had been doing really well with his health.  His lungs are staying healthy and his GI symptoms were mainly staying at bay.  

However, as of a few weeks ago, Bennett started showing signs his intestinal stricture is causing him problems again.

I contacted his GI doctor to ask if we can move forward with addressing it once again (I had placed everything in hold in September).  The GI doctor was very responsive, despite she was still out of the office for the holidays, and quickly put him on the calendar for a sigmoidoscopy with dilation.  

But, as the week marched on, Brian and I began talking about Bennett's stricture, asking ourselves what options exist for addressing this stricture once and for all.  I reached out to the pediatric surgeon who has been working with Bennett's GI doctor to see if he thought surgery would be an option.

Brian and I haven't been ready for surgery.  But, we rationalized, if Bennett is going to have to undergo a 3-day colon prep and be put him to sleep again, maybe we ought to do surgery, a more definite way to address the stricture.  

Upon hearing our thoughts, the pediatric surgeon confirmed surgery is a viable option for Bennett.  The GI doctor also agreed she believes surgery makes sense.  So, after two weeks of great hesitation, 

Brian and I have decided to move forward with surgery.

To prepare for surgery, a barium enema was ordered.  On Friday, Brian and I took Bennett to Children's Medical Center for the barium enema in hopes it will give the surgeon more information about the placement of the stricture and to confirm there are no other hidden strictures.

This was Bennett's 4th barium enema.  He had one in preparation of his last surgery almost exactly one year ago.  It is a very uncomfortable procedure.  I knew it would be really hard for him to do again.  The procedure consists of a tube being placed in the bottom and clear barium liquid pushed up through the bowel while x-rays are taken.  Not only is it scary for a child, the barium often causes cramping pain.  I was most worried this time about additional pain caused by his stricture.  Thankfully, the X-ray tech was very responsive and decided to place numbing gel on the end of the device that would provide the barium in order to prevent any additional pain that might be caused.

Brian was able to join Bennett and me for the procedure since my sweet friend Kelly offered to pick Oliver and Avonlea up from school and watch them until we made it back to Waco.  This made a world of difference in regard to how traumatizing this procedure was.  Although the procedure was still really hard for Bennett, having both mommy and daddy there made for distraction.  In addition, not only did Brian's being there help me to be calmer, having Brian there allowed me to talk to the radiologist and nurses without the feeling like doing so required leaving Bennett alone.  

We explained to Bennett his only job was to be as calm and relaxed as possible.  The X-ray tech explained the importance of taking deep breaths and breathing through it.  The entire procedure took about 15 minutes once we began.  Bennett did a very very good job despite it all and gave us some great images.

Here is a carton drawing of what a colon looks like.  Bennett's stricture is in his "rectosigmoid" which means in the rectum and sigmoid area.  I wasn't even sure where the stricture was until I saw it on film.  It turns out, it's hard to miss:

Can you find the stricture??  Although we haven't received the official radiology report from the barium enema and we haven't yet heard from the pediatric surgeon on when surgery will be scheduled, we did appreciate hearing the Radiologist say in person that he thinks the stricture is probably less than 1cm (or 10mm).  

Seeing this picture made Brian and I grateful we have made the decision to resect the colon - to cut the stricture out and reattach/fix the colon to itself.  

Upon finishing the procedure and leaving the hospital, to our surprise, Brian and I noticed it was snowing outside.  Experiencing snow in Texas is a rare, a bit like seeing a rainbow after a thunderstorm.  As we were walking out, I wondered aloud to Bennett that maybe God had given him the opportunity to experience snow as a gift to him for his great bravery.  Bennett's face lit up.

I don't know why God chose to send snow in that moment.  But what I do know and what I wanted Bennett to know in that moment is that God is there always - both in the difficult moments and in the magical ones.

Understanding the CF Foundation Patient Registry

Wednesday, January 4, 2017

One of the things that the Cystic Fibrosis Foundation is most known for is its Patient Registry.

For more than 50 years, the Cystic Fibrosis Foundation Patient Registry has been collecting data about CF and about those who are born with it.  This aggregated data is used to further CF research.

Most people with cystic fibrosis in the US provides their data to be collected through the Patient Registry but few really know much about it.  So I thought I'd share more about what I know about it.

I have had the unique opportunity to be involved in the CFF's patient registry work over the last year and a half as I have am co-leading CF Foundation's Patient and Family Research Advisory Committee (PFRAC).

Pictured above: Laurie (CF Mom and PFRAC member), David (CF Dad and my PFRAC co-chair) and Aliza (CFF)
This past year at NACFC, our committee launched our first and primary initiative, the Insight CF Registry Research Project, a new way for people with CF and their families to indicate what community and disease trends they want to know more about using data from the CF Registry.

The CF Foundation Patient Registry is a collection of data on the health of CF patients.  There are two pieces of inclusion criteria for the Registry: you must be seen at CF Care Center and you must consent to participate.

(Image from the CFF 2014 Patient Registry Report)

Registry data is collected, alongside of the patient's medical record, by individual CF Care Centers and is managed by the CF Foundation.  To see specific types of information you can find in the CF Foundation Patient Registry, click here.  Although it's changed over the years, currently, data is collected at diagnosis, clinic visits, hospitalizations, and with IV treatments.

(Image provided by CF Foundation)

This might be my inner nerd coming out but I really love seeing how the CF Foundation Patient Registry has evolved in the last 50+ years.

The CF Registry was originally started in the 1960's by Dr. Warren Warwick at the University of Minnesota.

The 1980's, the CFF began to maintain and update the Registry under the leadership of Dr. Bob Beall.  At that time, the Registry was maintained on paper and data was gathered through annual questionnaires.  The types of data that was entered in to the the registry during this time included demographics, treatments and exacerbations.

The first year of analytical data came in 1986.

Two years later, in 1988, the CF Foundation published its first Registry Report.  (Registry Reports are available free online but typically are 2 years behind due to the time it takes to collect and analyze the data.)

In 1994, the CF Foundation began to ask for data to be transferred onto floppy disks.  Also this year, the registry began gathering more data more frequently.  At this time, the registry began collecting data quarterly (rather than annually) and asked for the following items added in to the Registry: height, weight, pulmonary function tests, microbiology cultures.

In 1999, the Registry began creating center-specific reports so that CF Care Teams could monitor how they were doing at their specific center in comparison to other Care Centers.

In 2002, separate year-end reports were created for clinical and general CF community.  Before that, reports were just created for the clinicians to read.

In 2003, the Registry began working on a web-based platform.  Additional variables were added between 1994-2003 but the variables were mainly more details about the categories listed.  The big difference between measures gathered in 1994 and 2003 were about how often the data was collected.  For example, before 1994, the Registry collected one height and one weight measurement per year.  Starting in 1994, clinicians could add up to four measurements per year.  In 2003, clinicians could enter as many heights and weights as "encounters" (when an individual is seen in clinic or in the hospital).

In 2006, some metrics on CF Care Center outcomes were made publicly available online.  This was also the year in which the Registry began collecting detailed information medications used within the CF community (mucolytics, inhaled antibiotics, prochodilators, corticosteriods).

In 2010, registry information began being collected through an enhanced web-based platform and began collecting information on CFTR Related Metabolic Syndrome and CFTR-related diagnosis.  In addition, expanded data began being collected in microbiology, genotype results and infants under 2 years old.

Today, data collected on CF patients is now collected at diagnosis, clinic visits, hospitalizations/home and IV treatment and is collected annually.

Before I knew much about the Patient Registry, I used to think the Registry was a big online database.  It's actually not.  It's a collection of data over time but it's not currently collated in a way that would easily allow for a non-clinicians/non-researchers to hop on a computer and crunch the numbers.  That might come with time but, for now, it's a very arduous HIPAA-compliant process with careful access given mostly to researchers.

People with CF and their families can get a copy of their own personal data from the registry at any time by requesting a copy from their CF Care Center.  People with CF and their families can sometimes get their CF Care Center's Patient Registry data if the CF Care Center is willing to give it to them (just ask your Care Center to find out).  But, since the Registry contains a lot of data and is very complicated, getting access to it in any form is not typically as easy as clicking the "print" button.  This is why most people with CF and their families really don't have access to Patient Registry data outside of the Patient Registry Reports published by the CF Foundation every year.  Personally, I find these reports to be really interesting and enjoy reading them every year.

So, how exactly is data from the Patient Registry used?  In addition to the data that is pulled on behalf of researchers around the world who are looking at trends within the CF Community and with the health of those with CF, every year, a chosen group of clinicians and researchers meet to decide what information within the CF Patient Registry should be pulled out and researched further.

This year is the first year where people with CF and their families have the opportunity to drive the CF research agenda.  Now, not only does this specific group of clinicians and researchers have a chance to identify what needs to be researched further but so now does those who are living with this disease day in and day out.

From now until the end of January, the CF community (people with CF and their families) can visit to submit questions about CF and CF trends they want to know more about.

Some of the kinds of questions the Insight CF Project is looking for include:

* Do people with CF in different regions of the United States have different infection rates and health outcomes?
* Do Hispanics with CF have the same expected survival rate as non-Hispanics?
* Do all people with CF eligible for transplant get a referral? If not, are those not referred different than those who are referred?
* What are the factors that make it more likely that people with CF will recover lung function lost during an exacerbation?

After a submission period of about 3 months, the Patient and Family Research Advisory Committee will identify the top submitted questions to put back to the CF community to rank.   Once those questions are ranked as being questions the CF community strongly wants answered, a multi-stakeholder committee (including people with CF and their families) will be formed to study this question further.

I'm really passionate about this side of CF research because, previous to now, so much of CF research (at least from the patient/family perspective) has been focused on "finding a cure."  While that side of research is absolutely critical, I think, just as important is recognizing that there may be many things that we can do right now to extend the lives of those with CF if only we knew to do it.  The Patient Registry allows us to look more closely at what we are currently doing and evaluate ways to do it better.

I am grateful for the foresight of Dr. Warwick and others from the CFF who created and still maintain the Patient Registry.  I am proud that it is a pillar of our CF care.  And I am incredibly excited about the potential that still exists to better use the Patient Registry.

The advantage of people with CF and their families getting more involved in research (clinical trials, tracking their own data, connecting to the Patient Registry work, getting better access to the data) is that doing so helps patients and families be better partners on our CF Care Teams and can improve mental health by empowering us with new ways to fight a disease that often feels like it's in control.

I want to know what I can do right now to improve Bennett's life.  Patient Registry is pregnant with possibilities.  Now, we just have to discover what the CF community wants to know first.

What data in the patient registry do you wish you knew more about?  Submit questions here: and follow the InsightCF project on Twitter at @InsightCF and #InsightCF.  

P. S. Thanks to Aliza Fink the CF Foundation's Director of Epidemiology allowed me to ask her a million questions regarding the Patient Registry and who is a fantastic advocate for people with CF and their families in this particular research space.  For more information on the Patient Registry, read the CF Foundation's blog posts The Patient Registry: Where We've Been Where We're Going and Turn Your Curiosity Into a CF Research Project.

Our Christmas

Sunday, January 1, 2017


Our little family had a really great Christmas.  A few weeks ago, we took the kids to travel the Polar Express for the first time, pajamas and all.  It was a lot of fun.

The kids loved riding a train and getting to "visit the North Pole."  Oliver, who is 9 years old, is becoming increasingly cautious about the magic of Santa but was still this year very open to enjoying things like this.  Brian and I recognize magical experiences in childhood happen for such a short period so we really enjoyed taking the children on the Polar Express. Plus, it's always fun to pretend you are a character in a book!

Each of the children were given a Polar Express golden ticket in which the Train Conductor punched a hole and wished us a safe trip.  While on the train, we were entertained by dancing men and women in white uniforms who served us hot chocolate and chocolate chip cookies.  Then, we read the book at the heart of it all: The Polar Express. Shortly after we arrived at "the North Pole" and Santa came aboard and gave each of the children their very own silver bell.  (It was dark by that point so I don't have a good picture.)

Thankfully, I was able to capture a better picture of the kids with Santa a bit later.

Avonlea and Kelcie, her ballet teacher
Beyond visiting Santa Claus, December brought us lots of fun celebrations...including Avonlea's first ballet recital, which she loved.  I was hesitant to put Avonlea, who had just turned 3, in dance class in September.  As much as I wanted for her to enjoy ballet, our family's time is so limited due to Bennett's treatments, appointments and needs that I didn't know how we'd do it.  But I learned the classes were provided at the school during the school day so it doesn't add one more thing for our family to have to do. Then I wondered if Avonlea would enjoy it and whether or not it'd be worth paying for.  Sensing my hesitation, the sweet owner of the Waco Ballet, Sara, who knows Bennett's story reassured me she wanted Avonlea to be a part of the class and would do whatever she could to make it work for us.  I am so glad she did because Avonlea has absolutely loved it.  I couldn't be any more more thankful for Sara and Kelcie giving us such a fun opportunity to see our little one shine on stage.

 Oliver had a stage of his own at his school's Biography Fair a few days before the Christmas break.  Each of the third graders were asked to choose someone on which to write a biography report and do a presentation.  Oliver chose composer John Williams who is known for his work on Star Wars, Superman, Indiana Jones, Jaws and much more (including writing the Olympics theme song - who knew?!). Oliver did a great job presenting to his peers, parents and teachers.  The children were asked to dress up as their character but Oliver freaked out when I told him we needed to make him look grey-haired and bald.  So, he dressed up as John Williams as a young man instead - ha!

Oliver Christmas, Brian and I took the kids up for a week to visit Brian's parents in Missouri.  We had a wonderful time despite the 3+ stitches Brian had to get at Urgent Care shortly after this picture when he accidentally ran into a pole at the Incredible Pizza Company.

As if getting stitches wasn't enough excitement, things really got real when Bennett's AffloVest stopped working shortly after arriving in Missouri the day before Christmas Eve.  (Apparently there is a known defect in our model but no one had told us.)  

Thankfully, we were able to do some hand percussion lung therapy but beyond it being a lot of work, our not being used to doing it brought us a lot of anxiety.  Were we doing it well enough?  Were we getting all of his lungs, hitting all of the right places?  Bennett is a skinny kid so it's easy to cause him to be sore, which was worrisome to us.  Thankfully, Brian spent much time on the phone trying to find ways to fix our Vest (which was only received last year) or get a new Vest.

At one point, someone tried to rent us a Vest from a local medical durable equipment company but that fell through because they didn't have one small enough for Bennett.  I was glad since "borrowing" equipment that might have been exposed to those with respiratory infections is always anxiety-producing due to infection control.  We were fully prepared we might have to wait until after Christmas to receive a new Vest.

But, lo and behold, on Christmas Eve, just minutes after I had finished giving Bennett his morning CPT by hand, a box showed up at the door.  It was our AffloVest that had been overnighted to us.  I was so happy and filled with thankfulness I cried.  It took several people working overtime to make this Christmas miracle happen.  We made sure to contact each person to let them know their time away from their family to help ours was immensely appreciated.  Families with children with special needs feel so vulnerable at times like these.  It means a lot when people help, even when they don't have to.

Thankful for magical memories, tiny ballet feet, the music of John Williams, extended family we love, stitches for a noggin that got knocked and new Vest this Christmas,
(p.s. Happy New Year!)

Dyslexia X2

Tuesday, December 20, 2016

Last school year, only a few weeks after Oliver was diagnosed with dyslexia, Bennett's kindergarten teacher sat down with me.

She wanted to tell me she was suspicious that Bennett might have dyslexia and had no idea, at the time, that his brother had just been diagnosed.  She knew only that Bennett was very smart and wasn't performing in reading and spelling as she believed he should.  She encouraged me to have him evaluated.

This is a sample of Bennett's school work that was concerning to Bennett's kindergarten teacher, prompting her to suggest he be tested for dyslexia.

So this September, now with Bennett in 1st grade, six months after I took Oliver to UNT-Denton to get tested, I took Bennett for his own psycho-educational assessment.  A few weeks later, he was given the official diagnosis of dyslexia, a neurological condition that involves difficulty in learning to read or interpret words, letters and other symbols but that does affect general intelligence.

It's a real bummer that Bennett has two things that make life challenging: a disease that will eventually make it hard for him to breathe and a condition that makes reading a challenge.  But in both situations, we are grateful there are resources to help. (By the way, CF and dyslexia, although both inheritable conditions are not believed to be causally connected.)

In the same way I have become an advocate in the area of CF, I have spent many many hours to become to advocate for my boys in the area of dyslexia.  I have scoured the internet.  I have ordered books about dyslexia on Amazon.  I have found friends going through the same journey.  I have joined dyslexia Facebook groups.  For months, I sucked down every piece of knowledge I could gain about the topic of neurodiversity and dyslexia, all so I could begin to articulate what my boys were dealing with and to decide how to help them.

Almost as soon as one gets the dyslexia diagnosis, one learns about the best practice of receiving Orton-Gillingham based one-on-one 2X per week dyslexia tutoring.  Thankfully, by the time we received a diagnosis for Bennett, Oliver was already working with a dyslexia tutor.  So, it was easy to just plug him in.

But, over time, I began to realize the cost and commitment of having two boys in twice weekly tutoring for years to come - and I began to recognize that maybe it would be easier if I became a dyslexia tutor myself.  Thankfully, since I have a Master in Education, doing so wasn't too difficult.  I found a highly-recommended reasonably priced curriculum that I could use without significant training.

The dyslexia curriculum I use is called "Barton Reading and Spelling Systems."  The program helps break down/isolate the phoneme sounds and provides spelling strategies and spelling rules to help people with dyslexia master areas that are often challenging.  In addition, it offers significant opportunities to practice these strategies which is imperative for those with dyslexia.

I have been in constant conversation with the boys' school about the best ways to support them.  The administration/teachers at the school have been gracious enough and flexible enough to allow me to pull the boys out of class 1 hour every morning to tutor them on a rotating schedule.  This allows me to work with each of them one-on-one to help them gain the reading and spelling skills that dyslexia makes challenging to master without intervention. (I am really enjoying my time with the boys.  I consider it a great gift to be able to work with them.)

Reading and spelling issues with dyslexia can be directly addressed through tutoring but dyslexia affects other aspects of school learning, including memorizing and processing.  It is complicated enough in the classroom to deal with cystic fibrosis, but it's even more complicated when a learning disability is involved as well.

But dyslexia, just like CF, teaches me to be patient, to see the child beyond the diagnosis and to embrace a different experience than we first expected to have.

In preparation for a recent conversation with Bennett's principal and teachers, Brian and I spent a long time talking through our expectations of Bennett in school.  We realized that it's so easy for Brian and me to get caught up in the expectations placed on us and on those around us:

If he doesn't do this well, then he may not do this other thing well.  And if he doesn't do this other thing well, then he won't do that thing well.  And if he can't do that thing well, then...

One of the biggest reminders CF provides our family is that we're not in control...and that even, if we do everything "right", it still might not turn out like we want.

So we've learned that it's better to live in the present, not stressing about the other things, but embracing these things.

Bennett missed a lot of school last year and continues to miss school due to his CF.  Even if we can get Bennett better where he needs to be educationally, there is a very good chance Bennett will land in the hospital at some point and likely he'll fall behind again.  Then what?  Our family just can't play that game.

Throughout much conversation, Brian and I spent time recently reminding ourselves what is true about Bennett and our role as his parents: Bennett is a very intelligent, tender-hearted and eager little boy who will thrive in whatever situation he is put in.  We realized that what we, as his parents, need to do for him - more than anything else - is to just stop the noise around him - to prevent pressures that might make him feel like he's missing out in life and to help him to fully engage in whatever life has given him in the moment.

Brian's and my hopes for Bennett are no less high as they were before we got the CF diagnosis...and the dyslexia diagnosis.  They are just different.  And there is something beautiful about our hopes being different - because it is at that point that they've stop being our hopes for Bennett and, instead, have become Bennett's hopes for himself.

Having a child with CF and two children with dyslexia continues to humble me as a mother.  I am regularly faced with the reality of our situation juxtaposed with the way I wish it could be.  It is here, though, that I am able to recognize their are always blessings embedded in loss.  For example,

Progressive diseases don't give the gift of time.  But they do give the gift of the present.

Learning disabilities don't make things easy.  But they remind us our value doesn't come from others.

Bennett's challenges bring up compassion within me.  I want nothing more than for life to be easier for him.  But it is in light of these challenges that Bennett most demonstrates the depth of his strength and resilience.  And I am incredibly fortunate, as his mother, to get a chance to experience this part of him first hand.

I'm proud of you, Bennett.

Training the Future Child Mental Health Care Workforce

Monday, December 5, 2016

Last week, I was given the opportunity to participate in the "Forum on Promoting Children’s Cognitive, Affective, and Behavioral Health" with The National Academies of Sciences, Engineering, and Medicine.

Although much of my patient advocacy work is with CF on behalf of Bennett, this particular forum was focused on mental health and, so my work focused more on Oliver's part of our CF journey.

Along with several other parents who shared their children's stories of mental health, I helped open the symposium by sharing with a room full 50+ various pediatric mental health experts Oliver's young struggles with anxiety as a sibling of a person with cystic fibrosis.  The goal of our two-day work was to develop action items and recommendations for improving the training of the future workforce in child mental health care.

I found the conference to be really fascinating and couldn't help but think of many other families like mine would have loved to have been there listening to the current state of the pediatric mental health care system and ways currently being suggested to improve the system for all children.

My goal in sharing both boys' story, but especially Oliver's, in this forum was to bring a human element to a room of brilliant minds (pediatricians, psychologists, researchers, innovators, policy-makers, etc.) working on behalf of kids.

I shared Oliver's story, much of which I have shared on the blog, by sharing Bennett's journey:  Oliver was two years old when his world was turned upside down.  His baby brother had almost died in the womb and at only a week old had been given a progressive and life-shortening diagnosis.  As a young toddler, Oliver was left to watch him mother and father grieve and his brother be hooked up to machines.

Oliver, age 2
Oliver's anxiety would eventually become so disruptive to the family that his mother would reach out to a play therapist for help.  Improvement would come as Oliver's little brother's health improved and as his parent adjusted to a new normal.  But school would become a place of frustration and hopeless until Oliver was provided pharmacological support for anxiety and diagnosed with both learning disability (dyslexia) and giftedness.

After I shared Oliver's story, I implored the group that sat before me to remember "the Olivers"...all of the siblings of children in the system.  I implored the group to recognize that anxiety and depression is high in chronic disease communities, like CF, for those with chronic disease, but rates are even higher for siblings...and even higher still for caregivers.  And I implored the group to remember that "one more thing" for a family is never just "one more thing." One more referral or medication refill or follow-up appointment or one more system to be created, one more barrier to overcome.  I asked the experts before me to be thoughtful, that when improving the system, to not to continue to overburden the families at the center of needing mental health care.

The meeting was very stimulating as one expert after another came up to the podium to share for about 5-6 minutes about what they are doing in the mental health space that is working successfully and offer recommendations of what needs to be done to improve the pediatric mental health care system.

It's hard to fully capture and share in a meaningful way all of the good insights provided (although I will link to the online recording of the meeting once it's online). So, I thought it might be best for me to just share some of my favorite favorite quotes or one-line insights from the conference:
  • Mental health: get a "check up from your neck up."
  • Mental health disorders typically develop in childhood. 1 in 5 children develop a mental health disorder.
  • Mental health care is the greatest example of how fragmented our health care system is. (Dr. Benjamin F. Miller, Farley Health Policy Center at the University of Colorado)
  • 35% of kids who received outpatient mental health care saw only their primary care provider. (Dr. Benjamin F. Miller, Farley Health Policy Center at the University of Colorado)
  • [In mental health], we need to create a culture of whole health. (Dr. Benjamin F. Miller, Farley Health Policy Center at the University of Colorado)
  • Schools are becoming the defacto mental health system. (Elizabeth Connors, University of Maryland School of Medicine)
  • What if we had an IEP for behavior and mental disorders? What if children had a right to appropriate mental health resources? (Christoper Bellonci @ Tufts Medical Center)
    • my personal translation: Why do we, as a society, value all children getting access to education but we don't value all children having access to mental health care? Why are families often left to fiend for themselves in this area?
  • We need to better support our "front line providers" who are working with children with mental and behavioral disorders
  • Regarding the need to provide better mental health care for our children: "Moral outrage my be our greatest leverage if we chose to use it." (Christopher Bellonci, Tufts Medical Center)
    • my personal translation: We cannot sit back and ignore that the children in our country deserve better."
  • We need a culture of "shared vision" - where children are considered "everybody's child."
  • The last thing we need is another program. We need system transformation. (Dr. Benjamin Miller, The Farley Center in Colorado)
  • [We must] Change the question from 'What is good enough?' to "How good can we get?' 
    • my personal translation: we must refuse to be complacent in what we do in mental health care
  • "Whoever has the data...has the influence."
    • my personal translation: it is critical to demonstrate through data the effectiveness of whatever you do in health care
At the end of the meeting, along with another two parents who represented the patient/family voice, I was asked to briefly share a last few words.  I sat there, as the conference was winding down, right before I was to hold the microphone, wondering what else I could say to this group that hadn't already been said.  So many amazing people had already shared so many wonderful and sobering thoughts.  What could I add??

Then, I thought about Oliver. What would Oliver say?  What would I want tell Oliver, if he could understand, about what I just did and about the discussions that had just been had?

In that moment, I remembered what the child psychologist told me at Oliver's psycho-educational assessment this past February.  Eight year-old Oliver was still in the midst of having significant anxiety issues.  The psychologist had asked him to draw a picture of his immediate family and each of our roles in the family.

I shared with the room what the psychologist revealed to me, what Oliver had drawn in his family portrait.  Oliver had drawn a space ship with most of us family members inside.  But, most interestingly to the psychologist, he had drawn himself outside of the space ship, sitting on top as the look out - ever vigilant (anxiety) of the danger that lurked around him.

I shared this with the room.  Then looked directly into the eyes of the men and women who sat in front of me and said, "What will I tell Oliver about this conference?  I will tell Oliver that he does not sit alone on top of that space ship.  He has all of you guys there up with him, looking out and working to protect him from the dangers that lurked."

That's exactly what I am going home feeling - grateful to know some of the work that is already being done in the pediatric mental health space to give better care to families who need it and grateful to be more aware of the work that is still yet to be done.

I'd love to jump 20 years ahead and see where the mental health care culture will be in the future. Here is what I hope to see:

parents will have more resources at their fingertips...

parents will be more welcomed as a part of their care team...

experts from different disciplines (education, pediatricians, psychologists, etc) will be more holistically trained, better aligned and working more fluidly together...

mental health care will be less patient-focused and more family-focused, less patient-centered and more family-driven...

and, most of all, mental health will no longer be something people are ashamed to talk about but something that is embraced as part of whole health wellness.

That change is happening already.

People from NACFC (and a few other nuggets worth mentioning)

Thursday, December 1, 2016

I genuinely have not meant to stop blog posting as of recent.  I just can't seem to catch up.  Kids, holiday traveling and work projects have all had me preoccupied.  But there are so many good things to share!!

In my last blog post, I shared as much as I could about what I learned at NACFC in October.  But there are other things worth noting so I'm posting those thoughts/pictures here. 

First, let me share about the people at NACFC.  I certainly could not capture all of the people I love getting to see and meet at NACFC but here are just a few of those who I captured.  Above left is one of my best CF Mom friends, Erin.  Above right is my friend Chris, an adult with CF who, along with his wife, recently adopted one of the the cutest little babies I've ever seen.

Above left is Lou, a CF mom from Ireland, who I am still thrilled I ran in to on the streets of Orlando as we were both walking different ways to restaurants for dinner.  We were able to stop for 2 seconds and capture a picture.  We joke that we are related because both of our kids have the exact same CF mutations. :) Above right is Jerry Cahill, a CF adult hero in his own right.  He's one of the nicest guys and I was over the moon to meet him in person.  Bottom left is Sioban, a CF mom, who is an amazing mother and CF advocate.  I very much admire her and cherished the time we had to visit together at NACFC.  Bottom right is the C3N team from Cincinnati Children's Hospital that I work alongside with our work in the Learning Health Network. (Notice Michael, the goofball in black! ;))

This picture is from our "Parents Connect" Dinner at Opa Restaurant in Orlando sponsored by Allergan.  It was the first of it's kind and will hopefully be an annual event.  I met lots of great CF moms (and a few dads) who I either already had a connection to via social media or do now.

Above top is Peter and Ginger.  Peter is a CF dad with an English accent and powerhouse fundraiser for the CF Foundation.  He is a risk taker and is always doing something wild and crazy to raise money for CF.  Ginger is a passionate CF mom from Tennessee who is 100% southern.  Ginger will be the 2016 CFF's Volunteer Leadership Conference Chair in Dallas this Spring. Above bottom is Laurie, a CF mom from Vermont who I work with closely on the CF Foundation patient-driven initiative, Insight CF.

The picture above is the grassroots parent lunch at NACFC that came from a bunch of CF Moms who were already connected on Facebook but who wanted to meet in person.  This is our second year to get together but it was just as valuable as last year.  It's nice to be able to share what we are learning, what sessions we are exciting about attending and what tips we've learned that we are taking back home.

I must say these pictures, while fun to see, also makes me sad...because of those who cannot be in these photos.  One of the most tragic things about the North American Cystic Fibrosis Conference is that people with CF are not allowed to attend NACFC.  I understand the CF Foundation's infection control guidelines, that people with CF are a risk to other people with CF which is why they are not allowed to attend.  (I also know some people with CF come anyway.)  I greatly appreciate the way the CF Foundation is working each year to bring more and more of the conference online so everyone can participate, if at least virtually.  But there is no true substitute for in person connecting.  It makes me super sad, as a mother of a child with CF, that this conference cannot be something that the very people we are there for can experience.  It's so sad that CF even takes away the opportunity to be at a conference about one's life-saving treatments.  To think that, unless something changes, Bennett will not be able to attend this conference with me when he is an adult is very disappointing.  All the more reason we need a cure.

I was really excited this year to be a part of a team that had a poster accepted at NACFC.  For the last year or so, I've been working alongside some amazing people from the FDA and several pharmaceutical companies as a part of the Clinical Trials Transformation Initiative of the Duke Clinical Research Institute at Duke University.  The abstract that was accepted is called "Pediatric Trials in Antibacterial Drug Development: Findings from the Clinical Trials." I'm proud to be a parent sharing research at NACFC. Unfortunately, in order to share research at NACFC, you have to have a research organization, something most non-clinicians like parents/patients don't have. With continued support from patient-driven research sponsored by the CF Foundation through the Insight CF Registry Research Project, I am hopeful that, over time, there will be more opportunities and platforms for patients and families to share their knowledge and research with the CF research community. People with CF and their families are increasingly being acknowledged as experts in the field. But, as of now, there are few opportunities to demonstrate that research at medical conferences such as NACFC. I'm hoping that change is coming.

Kate's Farms was a huge buzz at NACFC and while it may be coming to a CF Clinic near you, the reality is patients/families have been demanding "real food" enteral nutrition for a while now.  There is a very big push in the CF community (and, in the general g-tube community) for better enteral nutrition options.  Kate's Farms was the only "dairy-free, gluten-free, soy-free, non-GMO" food enteral vendor that I knew of at NACFC and received very good interest from those who visited.  The other companies I know that offers something similar is Liquid Hope and Real Food Blends.  Although they weren't there, I know the CF community has been asking for more holistic nourishment support for their children who are being supplemented at night and during the day.  The desire is to see that children who are fed through a g-tube are getting similar types of wholesome foods as those who are not.  Personally, I think Kate's Farms signals the change in preference for a more balanced diet from the CF community.  I'm happy to say more and more docs are getting on board.

Another buzz at NACFC this year (that I actually saw last year but didn't post online as not to jeopardize the FDA approval process) was Relizorb, a new enzyme just approved for enteral feedings.  The way that it works is you place one end of the cartridge into the tubing and put the enzyme into the tube extension so that the formula goes through the enzymes as it goes in to the belly.  This product rocks my world!  Not only is it supposed to be more effective than other enzymes for tube feeds (we're still determining if that's true for Bennett), it is SO easy to use and negates having to crush enzymes or wake Bennett up to take enzymes by mouth.  Bennett has been trialing Relizorb for the last few weeks and Brian and I love it.  We are still trying to figure out what is the best formula to put with it since fiber in a formula can clog the cartridge, but other than that, we're huge fans of this new enzyme method.  Improving the treatment burden is huge and I can say Relizorb does that!

This is me and Lisa.  She's a CF doc.  I'm a CF mom.  We met on Twitter.  Throughout NACFC, we were both tweeting our respective experiences at the conference.  But, as Twitter often does when you're passionately tweeting about a topic, it connected us together.  I was delighted to see such an active CF doc on Twitter sharing good information.  She was delighted to see an equally active mom in the Twittersphere.  So, we decided to do a "Tweet-up" and met up with each other in real life!  Lisa and I both believe Twitter is such a great resource for the sharing of good ideas and information, particularly for the larger CF community since so many of us are dispersed around the nation and can't get together.  We hope to work together on this topic in the future: improving CF care through the connection and collaboration of social media.

8+ Things I Learned at NACFC 2016

Thursday, November 10, 2016

Here is a recap of NACFC 2016.  Fair warning, this post is looooong.  But it's chocked full of great slides, access to the plenaries and to links for further information about the newest in CF research shared at NACFC.   

Although, this is a much abbreviated version of all that went on a NACFC this year, to give it some organization, I've broken this blog post into: 

8+ Things I Learned At The 2016 
North American Cystic Fibrosis Conference 
this year

1.) The CFTR Modulator Pipeline is diversified and robust

This slide shows the demographics of the CF population in the modulator area, a breakdown by molecular theratype.  There are 5% of people with CF who have two stop codon mutations.  On this slide, Bennett is in the dark yellow.  Ultimately, Bennett is part of 12% of those with CF who have one stop codon mutation (621+1G>T) and a non-stop codon mutation (F508del).

This slide shows the historic effort being extended worldwide to make sure the CF community meets its goal for a cure for all.  If you look close, you can see the sponsor's name, drug name, the drug class and the current research and development stage the drug is in.

This slide shows where targeted therapy is headed next.

I love this slide because it shows how much farther we still have to go.  As more CF genotypes are treated with better modulators at younger ages, the health of the CF population will shift dramatically.

Although with modulators we expect a smaller proportion of individuals with CF will have need for "downstream" therapies, there will still be a need for these therapies.  This slide shows the anticipated changes in CF population size, health and treatments.

But we know that modulators will ultimately not likely be able to provide a cure for CF for the CFF is continuing to work on new options.

2.) Gene-editing is bringing hope to those with CF who don't benefit from CFTR modulators.
CF researchers are asking: how do we attain a therapy targeting CFTR when not all patients have the same CFTR defect?  

What do we do with those Class 1 and Class 5 mutations...and the 5% of patients that have both copies of the Stop Codon mutations in them? Since there is no CFTR and therefore CFTR is not getting to the surface, CFTR modulators aren't going to work. 

There is an new technique that is being researched that the CFF hopes will help those who don't benefit from CFTR modulators.  It's called gene-editing.

Although I can't even begin to explain gene editing, this slide is still image from a video shown at NACFC about CF and gene editing.  Watch the fascinating video starting at 1:15:02 here:

This slide shows the greatest challenges of gene editing today.  The CFF has partnered with Editas and CRSPR Therapeutics to find a way to make this work.  With gene editing is there are 190,000 base pairs.  The CFF can't focus on them all.  So, the CFF is focusing on those mutations that do not currently look to benefit from CFTR modulators.

Beyond gene-editing, another technique being researched is manipulating the RNA to address X-mutations (stop codon mutations).

Here are specific programs working on the premature truncation and X mutations that affect the 5% of people with CF who do not benefit from modulators.

3.) There are 10,000 more CF adults now than there were in 1986.  

The demographics are changing in CF.  More adults are college graduates, students/employed and married or living together than ever before.

In 30 years, median predicted survival has seen a 12 year improvement.  Although this slide does not show it, the median age of death was in the 3rd decade of death in the 1980's but we've seen only a 5 year improvement in that area over the last 30 years.  However, it's worth noting that all of this data reflects the era before modulators (before Kalydeco and Orkambi).  Everyone expects this data to only get better in the coming years.

 This is a new metric that is going to appear in the Patient Registry Report this year is "life expectancy by age."  This graph shows that if you've achieved a certain age (represented by the yellow), what are your calculated additional years of life expected (represented by the white).  But, again, this data is pre-modulators.  It is expected that those on Kalydeco and Orkambi would see even higher numbers.

4.) CFTR genotypes (genetics) affect phenotypes (symptoms) but how much depends on the factor being considered.

There is a growing understanding of mutations and how they affect the disease.  But, it turns out, it's very complicated.

There tends to be three areas of factors that impact CF: CFTR genotype, genetic modifiers (other genes besides CFTR) and environmental factors/random events.

Pancreatic sufficiency is almost completely dependent on CFTR genotype while intestinal obstruction risk and age/onset of diabetes is almost completely dependent on genetic modifiers.  Studies show environmental care/random factors can have some impact on airway obstruction, body mass index and pseudomonas aeruginosa infections.

It would be very nice if we could determine survival based on known genetic defect.  But this slide reminds us that that is not possible considering the myriad of factors that go in to determining one's health.

5.) Early life nutrition has significant impact on pulmonary system. 

This left side of the slide shows that when examined in pre-2001 data, children with the lowest lung function also had the lowest weight-for-age.  Even if you adjust for signs of lung disease, this data didn't change, in fact, it got stronger.  It turns out, what determine's one having more lung decline is having small lungs.  Recently, similar data (on the right side) was evaluated to see if this data had changed.  Clearly, it has not.

Conversely, data also shows that if you improve your nutritional status, your lung function goes up dramatically.

As Wayne Morgan, MD said when he shared these slides: "a child's job is to build big lungs, healthy lungs.  If you are not growing well, if you are nutritionally behind, your body is sacrificing lung growth to presumably grow the brain, it does hurt the lung."

Growing strong lungs is imperative.  "Because we know that when they are grown, they begin to decline," said Wayne Morgan, MD, Chief of Pediatric Pulmonary Medicine at the University of Arizona during his talk. When we look at the decline in lung function with age, we see that preteen to adult (9-18 years) is when the greatest decline in lung function occurs.  This slide also shows what's associated with lung function decline.  What is interesting here is that a predictor of more rapid decline is someone whose FEV1 is predicted to be 100 or more.  Why would that be?  (see Things I Learning at NACFC #5:)

6.) Sicker patients receive more treatments.  But that needs to change.

This slide shows that, on average, at 3 months, 75% of CF patients have gotten back to their baseline lung function after an exacerbation.  At 6 months, 81% of CFpatients have gotten back to their baseline.  At the end of a year, 85% of people with CF have been able to get back to their normal lung function.  However, pulmonary exacerbations can have long-term implications as 15% of patients fail to recover 90% of their baseline FEV1 within a year.  That's 1 in every 7 people with CF don't recover their baseline.  That can be 4-5 years of decline related to one event.  Dr. Morgan explained we have a lot more to learn in this area - how to prevent them and treat them.  There are several studies going on right now learning more, including understanding exacerbations in children.

The interesting thing is having an exacerbation predicts an exacerbation.  Compared to those who have never a exacerbation and lose just 1% of lung function per year, those who have had an exacerbation lose 1.8% of lung function per year  ."If you are having an exacerbation, you are likely to have though the disease becomes accelerated.  Exacerbations eat away at lung function," says Dr. Morgan.

This slide shows a 2013 analysis of those who had low lung function, about 50% of them received IV treatment (with a high percentage receiving oral treatment) for, on average, 20% of lung function loss.  But this data shows that the healthier patients, the patients with the higher baseline lung function, the less likely they were to be treated.  Dr. Morgan explains, "so, if you compare the highest deciles, the highest lung function patients to the lowest, the odds of the healthiest being treated, the odds ration is .15, almost nonexistent.  And that's completely illogical.  Because if you have 100% lung function, and you lost 20% of it, then you've lost a lot more lung function than someone who is 50% and lost 20%. And also, in a disease that we know accelerates, where exacerbations predict exacerbations, we could be missing a chance to stop that if we are not treating healthy patients...we appear not to be treating people as aggressively as we should."

While more patients are being treated today than ten years ago, the same trend is evident. 

7.) Efficiency of treatment (clinical trials) does not equal effectiveness (real world).

It's important to know that just because a medication looks like it works really well in a trial, it may not work as well in the real world for every patient.  Some reasons this is possible include the fact that trials often exclude the sickest patients who  benefit, patients are often given more careful followup while in the trial, there is more standardization of management in a trial and patients in trials are often more adherent to their treatments than those who are not in trials.

8.) People with CF and their families can now drive the research agenda (more on this to come in a follow up blog post).

Although the patient registry has been around for decades, for the first time ever, the CFF is looking for people with CF and their families to give feedback on what *they* want to know more about with regard to cystic fibrosis.

Between now and the end of January, people with CF and their families (as well as other CF community members, including clinicians) can go here: to submit their research questions.  Any question about anything related to CF is appreciated but the kinds of questions are hoping for most are those such as:

* Do people with CF in different regions of the US have different infection rates and health outcomes?
* Do Hispanics with CF have the same expected survival rate as non-Hispanics?
* Do all people with CF eligible for transplant get a referral?  If not, are those not referred different from those who are referred?
* What are the factors that make it more likely that people with CF will recover lung function lost during an exacerbation?

I am personally co-leading this initiative with a great co-leader, David, and a fantastic team of people with CF and parents of kids with CF, who are working alongside the CF Foundation to develop better ways to help people with CF and their families engage in CF research.

The InsightCF Registry Research Project is different than clinical trials because it uses observational research collected through the patient registry of almost every person with CF who is seen at a CF Care Center within the US.  I look forward to hearing what people with CF and their families want to know more about and how the Patient Registry can help answer our questions!


Watch the 1st 2016 NACFC Plenary Session here: 

(To download these slides, go here:

Watch the 2nd 2016 NACFC Plenary Session here:
(To download these slides, go here:

Watch the 3rd 2016 NACFC Plenary Session here:
(To download these slides, go here:


I wasn't able to go to everything that NACFC offered as it's offerings are way more vast time I had or brain power to understand.  So, I was delighted to find a really fantastic resource that has outlined a lot of the new info from NACFC.  Check out these links from Cystic Fibrosis News Today (as well, scroll down to see blog posts from my CF Mama-friend Rebecca):

Colonoscopy Colon Cancer Screening Recommendations are being made for adults with CF
"[Researchers suggest] that split preps from a colonoscopy are better than single, large-volume preps." Read more here:

Exercises Targeting Trunk Muscles May Improve CF Urinary Incontinence
"As patients’ life expectancy significantly increases, other body systems also become affected by the disease, such as the the neuromuscular and musculoskeletal systems...children with cystic fibrosis are particularly prone to develop urinary incontinence.Read more here:

Kalydeco Seen to Improve Insulin Secretion in Patients with CF-related Diabetes"Results suggest that Kalydeco treatment affects beta-cells function and improves their secretion capacity. However, another possible mechanism is Kalydeco having an indirect action on other pathways that improve CF outcomes, including an increase in insulin secretion, without affecting beta-cell secretion capacity." Read more here:

Relizorb Increases Fat Absorption in Patients with Cystic Fibrosis Receiving Enteral Nutrition
"RELiZORB use during the administration of enteral nutrition among these patients was safe and well-tolerated. Patients reported a decrease in the frequency and severity of gastrointestinal symptoms, particularly stool-related symptoms, associated with deficient fat absorption. Also, more patients were able to preserve their appetite and were able to eat breakfast." Read more here:

Airway Microbiome Research Key To Understanding CF Disease Mechanism
""culture-independent” approaches suggest that CF airways may be infected by many more bacterial species than thought." Read more here:

CF Women Face Lack in Research in Birth Control Options Risks Unplanned Pregnancy
"No studies have been performed exploring if and how Orkambi impacts the use of non-oral contraceptives...There are also no official guidelines for contraceptive use in women with cystic fibrosis, leaving physicians to take into account disease-specific factors, such as diabetes and bone health, when selecting suitable birth control options." Read more here:

Next Generation CFTR Correctors Show Improved Activity Repair Defects
"Results support the ongoing clinical evaluation of VX-152 and VX-440 combined with first-generation CFTR correctors and Kalydeco in CF patients who carry the mutation F508del." Read more here:

New Database Could Identify CF Patient Variables, Outcomes After Lung Transplant
A "new database is a potential tool for optimizing the timing of referral for transplant and for identifying all variables to effectively predict the risk of waitlist and post-transplant morbidity and mortality for in CF patients." Read more here:

Severe Cystic Fibrosis CF Lung Disease Not Obstacle Appropriate Lung Transplant
"Our results demonstrate that the very advanced end-stage CF patients who are highly likely to die without transplant have comparable overall survival rates to more stable end-stage CF patients." Read more here:

Talk Details Challenges in CF Vaccine Development
"Infections with mucoid P. aeruginosa...remain the major initiator and driver of lung function decline in CF, and vaccination against this microbe is still a research priority." Read more here:

Many Eligible CF Patients Miss Out on Orkambi Treatment, Study Shows
"Clinicians may be slower to recommend [Orkambi) therapy compared to historical precedent with [Kalydeco] monotherapy in a different group of patients.” Read more here:

CF Patients Benefit from Home Tai Chi Training Using Video Calls, Face-to-Face Sessions
"As internet-based interventions are both safe and economic, researchers suggest that group sessions over the internet should be the next logical step toward financially sound and effective therapies for cystic fibrosis patients." Read more here:

Getting the Upper Hand on Mucus in Cystic Fibrosis
"Abnormal mucus clearance in patients with cystic fibrosis (CF) may be improved with specific treatments, but despite intense research on the subject, there are many unanswered questions about how atypical mucus contributes to the disease and how to best improve the problem." Read more here:

Potential Treatments for Biofilm Infections and Intestinal Inflammation Show Promise in Early Studies
"Promising results of preclinical studies evaluating the effectiveness of SYGN113 to treat bacterial biofilms in the lungs of patients with cystic fibrosis (CF), and of SYGN303 to treat the gastrointestinal consequences of the disease, were presented." Read more here:

Loss of Hydration in Airways Associated with Early CF in Preschoolers
"A team of researchers investigated which factors are associated, from an early stage, to airway alterations in patients with CF... [study] results suggest that airway dehydration is an important therapeutic target in young children with CF."

CFTR Potentiators, Correctors Explored Rare Mutations in Cystic Fibrosis
"Research is currently ongoing to evaluate which of the rarer mutations can be targeted with combinations of CFTR potentiators and correctors."

Close Gastroenterologist Monitoring of Patient Enteral Tube Feeding Urged by CFF

Small Study Shows Perceptions Raise Barriers to Palliative Care Use In Cystic Fibrosis: 
"Although CF can be a severe condition that reduces life expectancy among patients, there is no consensus among patients or healthcare professionals about how to incorporate the principles of palliative care into CF management." Read more here:

NACFC Notes From Day 1 - Rebecca's Blog

Slides from Day 1 Plenary - Rebecca's Blog

Genome Editing - Rebecca's Blog

Slides from Day 2 Plenary - Rebecca's Blog