Tuesday, August 25, 2015

Normalcy is my priority

The gang finally started school this week. Well, if you count staggered starts and half days. They're officially all in on Thursday. We survived summer. Praise the Lord. Thanks be to God. And Amen.

Its been an exhausting week. This is the first time we've had to wake up early for treatments on any regular schedule. For preschool, Drew went in the afternoon which gave us time to wake up, eat a nice big breakfast and get our treatments done. Now, we are waking up at 6am everyday, barely getting in an Ensure Plus and a slice of bacon, and have cranky, tired kids by 6pm. My kids are 12hr a night sleepers, so for this to be sustainable we will need to start skipping dinner and going straight to bed after homework. CF be damned.

Last time I blogged, I had mentioned a CT Scan and MRI that Drew was having. Two things came out of that. The first was the idea to make IRB protocols more easily understood by kids, and that's actually happening. I got in contact with Flip the Clinic and we are doing this. More to come on that later, but i'll just say that i'm SO FREAKING EXCITED!

The other thing that came out of the CT scan was shitty looking lungs. Boo. They weren't shitty shitty, but they weren't as clear and healthy looking as they have been in the past. My initial thoughts went to that bastard achromobacter that's invaded Drew's lungs and is nearly completely antibiotic resistant. I set up time to talk with his doc about the results, and while I waited for our meeting I searched online journals, I googled everything I could possibly think of related to achromobacter and eradication, and I turned to my peers. Oh, my beloved peers. The people that I've never actually met that I trust more than some people I've known my whole live. They're the ones in the trenches with me, desperate for answers, sharing what's given them hope. They track their treatments, get into deep and thoughtful conversations about options, sharing the recommendations of their doctors and what's worked and hasn't worked for them. I took all of this learning into a conversation that my husband and I had with Drew's doctor two weeks ago.

She started by saying it wasn't that bad. There was some mild lower lobe bronchiectasis (irreversible lung damage) but that it was oddly in the lower lobes of his lungs, whereas the typical progressing of lung disease that they see in CF starts with the upper lobes. She said that the lower lobe damage looks to be more consistent with something that you might see with aspiration. Hmmmmm. Queue my mind back to our situation this spring with the weird cough that wouldn't quit that turned out to be a reflux issue. Could that have been so bad that it caused lung damage? We won't ever have a definitive answer on that, but it sure does make you wonder. And as a sidebar, it makes me crazy mad (not at anyone in particular, just at the fact) that in 2015 we don't yet have a way to look at patients by ages or genotypes or medications they're taking to identify success rates or complimentary treatment options or symptom checkers that others might have experienced that could help us to quickly identify or eliminate what might be going on. It's on my list of things to do.

Anyway, because we don't know what caused the damage and while its possible that it was from reflux, its also possible that the achromobacter treatment plan that we are currently on isn't working as well as we had hoped. There were a couple of options that we had discussed. One was trying a new combination of inhaled antibiotics. Right now Drew inhales Tobi and Ceftazadime on 14 day cycles. His bacteria is resistant to Tobi but we didn't want to put him on continuous ceftaz due to growing resistance risks. An achromobacter eradication protocol called for continuous inhaled Ceftaz with a strong oral antibiotic continuously for something like 6 months. There are risks associated with that as well; resistance to a whole new class of antibiotics, GI issues associated with an oral antibiotic, and of course the chance that it wouldn't help. Another option, and something far more novel that I had suggested, was the use of Cysteamine (if you want to be nerdy, read this - http://www.sciencedirect.com/science/article/pii/S2352396415301109). It seems to have an incredible capacity to thin mucus, disrupt biofilms and therefore allow antibiotics that were once powerless against these horrible bacteria to once again penetrate them and get rid of resistant bacteria. There hasn't been sufficient testing in people with CF yet, but theres a whole group of folks that I've met who have both use and had success treating their resistant bacteria with this medication. Drew's doctor is trying to learn more about it for us so that we can see if it could be a useful option to try for him. If I'm trusting my mom instinct and backing that up with all of the research I've done on it, I think its probably the best option that we've got at getting rid of this bacteria.

What we settled on was a bronchoscopy. We have been treating the bacteria that Drew grows when they take a culture to see what he has in his lungs. The way they do the culture is sort of like a strep test where they jam the giant q-tip looking apparatus down your through to swab it for bacteria. While this is usually a "good enough" sample, sometimes its useful to get a deeper culture from mucus way down in his lungs. Since he's not yet able to cough up sputum and spit it into a cup, the only way they can get that sample is through a bronchoscopy. The reason that we want to do this is to make sure that we are treating the right bacteria and not missing something else living in his lungs that may be causing damage because of our failure to identify and treat it.

So on Monday, the first day of school, as we were walking out of the building and I was hearing all about who sat with who at lunch and how I packed snacks that they didn't like (you're lucky you even got a snack kids, don't push it!), my phone rang and the number was Cincinnati Children's. It was someone from scheduling calling to get him set up for a bronchoscopy. I told them I was busy and would have to call back.  I know how these calls go - 15 minutes on the phone with a usually very kind woman from customer service who asks me 100 questions that I'm quite frankly shocked that she can't easily get the answers to through our medical record, and then tells me the date that they can do it. I was already not really paying attention to the woman because a ringing phone means nothing to 5yr olds so they carried on with their chatter about their day, and I simply told her I would call back to take care of this later. CF interrupts so many other parts of my life, and I wanted to hear about the first [fake, only half] day of kindergarten, uninterrupted. I didn't want to page back and forth between my calendar and my phone call, quickly and distracted, likely to give her a date that wasn't going to work anyway leading to the need for a follow up and repeat of the first phone call/questionnaire. I want to sit down and think about this, find a time that works well for us. Maybe fall break, or another day off school. Missing a day of school right now will just kill him. He's just getting comfortable going, getting to know his routine, meeting new friends to eat that snack he doesn't like with. Missing a day off to relax might kill him too. I have to weigh these things against the importance of having this done, of knowing whats next on this journey.

I think this is the thing that most infuriates me about the current system for chronic illness care. While i'm trying to make these kinds of decisions, decisions that I have to make in 1000 different ways on nearly every single day, medical professionals are trying to help us understand the importance of things like sleep, exercise and taking your medication on time. I get that that's important, but even for those of us who manage to keep our heads above water, normalcy, above all else and in whatever distorted, backwards, chronic-illness-mom-anything-but-actual-normal way we define it, normalcy is our priority. I wish we could find a way to focus on that.

Thursday, August 6, 2015

If he's smart enough to ask the question

It has been a busy summer! Health has been good (knock on wood), weather has been bad, and what I'll say about the kids is that I'm just about ready for school to start again.

Drew has an MRI and CT scan tomorrow. He's not sick, which is really why we are doing it now. He's still growing achromobacter in his lungs, that ugly beast of a bacteria that has set up shop and colonized his airways. I found a protocol for achromobacter eradication that another CF mom had shared with me from the CFRI conference several months ago, but its pretty intense and we are trying to decide if its something we want to do. On one hand, the bacteria  seems to be reasonably well managed with the inhaled antibiotics that we are on (constantly). On the other hand, we worry about the silent damage that may be happening to his airways and if we could take away the chance of that happening by getting rid of the bacteria. The chances of us getting rid of it, truly eradicating it, are equivalent to us finding a pin prick on a tennis court. His lungs are vast, and bacteria is tricky.

Talking with his doctor at our last appointment we decided that it might not be a bad idea to do a CT scan to compare it to his prior CTs scans to see if lung damage is happening. It will inevitably happen in CF, but we hope to prolong the time that we see damage as long as possible (that's the goal of the inhaled antibiotics we are currently on to treat the achromobacter). The protocol that I had suggested was seven months on an oral antibiotic combined with regular inhaled antibiotic....for seven months. Her concerns were both resistance to antibiotics that currently work for him and also the side effects of the prolonged use of antibiotics, like GI issues. We've finally been able to get some weight on Drew and with strong oral antibiotics he sometimes has an upset stomach. I'd hate to wreak havoc on his GI tract to save his lungs; we need both!

So we decided to take a look before we make a decision. We decided that if his lungs look good (which I'm less optimistic about than I've ever been before) then we will stay the course of inhaling Ceftaz for 14 days and Tobi for 14 days, indefinitely. If there is some significant changes, bronchiectasis, then we will reevaluate our plan and try to be more aggressive in treating it.

I found out when we decided to do the CT scan that there is a research study underway trying to understand the value of MRI in measuring lung damage, as the risks of MRI are negligible since they use magnets rather than the radiation that a CT scan uses. I remember a presentation at NACFC a few years ago weighing the pros and cons of a CT scan, with some folks not wanting to expose patients to radiation of a CT scan and other feeling the benefits of knowing whats happening in the lungs giving a better opportunity to treat outweighed the risks of minimal radiation exposure. I'm on the fence. The exposure is minimum, but when you add up all of the different scans and test and everything that a kid with CF has done in a lifetime, the exposure to radiation is not insignificant, and so I appreciate that science brought us the MRI and the thoughtfullness or curiosity or whatever that led researchers to compare its value to the CT scan to understand how one might eventually replace the other. I digress.

I agreed to have the MRI done along with the CT scan as long as we didn't need sedation. After some discussions with the doc and the researchers, everyone agreed to try. With the scan coming up this week, I reviewed the IRB (the document that explains the research, what is happening, the associated risks, etc) and decided to talk to Drew about it. I also offered him $5 to hold still for the test so we can avoid sedation. He asked me why he had to have it done and if it was going to hurt, and I tried my best to explain that to him. After our conversation, I emailed the research coordinator and asked if they had materials to explain the IRB to a 5yr old. While they didn't, she did share some images of the machines that I was able to show Drew to hopefully allay some fears. But it got me thinking about how I wished the IRB was directed to him. I'm fine with a copy for me, explaining things at a different level, but if we could involve patients at a younger age understanding why they participate in this type of thing, what exactly is going to happen, how it will feel and how it will help them, maybe it will give them a deeper understanding of their disease, a deeper confidence in the teams that care for them, a deeper appreciation for the entire system that is in place to keep him well. I felt that if he was smart enough to ask the question then he deserves a smart and honest answer. I would love to work on a project with kids as young as 5 translating overly complicated IRB protocols into common sense, easy to understand documents. Maybe I will :)

Stay tuned for results on the MRI/CT study!


Wednesday, July 15, 2015

Precision Medicine Champions of Change

On Wednesday, July 8, 2015, I attended an event at the White House honoring 9 Champions of Change in healthcare. I've been thinking for a whole week about how I can share what I experienced there that day, and the best I could come up with was a storify. This captures the essence of the event - patients, parents, dedicated comrades, fighting together for equality of access, freedom of our data, and precision treatment options. This is Precision Medicine. This is what is going to save Drew's life. 

Thursday, July 2, 2015

APPROVED!!!

We moved into our house in 2009. We had one daughter who had just turned one year old. Nine months later we welcomed twins, and our son Drew was born with cystic fibrosis. It was at that time that we learned that our neighbor had a 50yr old sister who had cystic fibrosis, the doctor across the street had a business partner whose granddaughter had cystic fibrosis, and another neighbor worked with a man whose grandson had cystic fibrosis. With only 30,000 people in the country with CF, the chances of us living among three other families affected by this disease was incredibly rare. This is the way the cystic fibrosis community is though. We celebrate each others victories and we mourn each others losses.
Today, a new drug called Orkambi was approved for use in patients ages 12+ with two copies the F508del mutation. It works to correct the genetic mutation that causes cystic fibrosis. No only will this add years to the lives of those living with cystic fibrosis, but it has the potential to dramatically improve the quality of their lives.
This is a remarkable day for us, for all of us; for those who will benefit from this medication and for those of us who will not. Our drugs will come, so for now we will celebrate with them because we know that when our drugs come they will be there to celebrate with us.

Wednesday, June 24, 2015

CF Matters - A Podcast about improving health and care in the CF community.

Quickie post to share that our podcast, CF Matters, is up and running on iTunes! Check it out, and leave a review to let us know what you think! Also taking suggestions for other topics you'd like to hear us discuss.

https://itunes.apple.com/us/podcast/cf-matters-podcast/id988899926


In sickness and in health, for as long as we both shall live

I mentioned in a prior post about the value that I find in tracking my sons data. I wanted to share a presentation that I recently gave at Genentech about how we have used the data that I collect in combination with our doctors expertise to personalize treatment options for Drew that help us to best manage his health. This is an example of how I use Orchestra.



Orchestra is an SMS based patient-management and data visualization portal which improves the current model of decision-making and collaborative care in the clinical setting by delivering relevant information to patients, parents and clinicians to help everyone prepare for a productive clinical interaction and help patients answer the question, “What can I do to improve the outcomes that are most important to me?”. 

This is an example of the dashboard that I see in the app showing me the metrics that I've chosen to track.


And this is an example of the kind of output generated from answering daily text messages about different aspects of Drew's health.


Around the beginning of March, Drew developed a cough. It wasn’t like his normal cough, though I couldn’t put my finger on how it was different. The frequency wasn’t the same as it has been with other infections. The sound of the cough, something that I can’t quite yet quantify, was different – not totally wet and junky, not exactly tight. His appetite was down. I had talked to his doctor and we decided to try an oral antibiotic. After a few days it wasn’t seeming to make a difference. Then on March 24th we decided that he needed to try IV antibiotics to see if we could kick this. You’ll notice that throughout the course of IVs his cough still didn’t return to baseline. 
We were asking questions like “Did we choose the optimal combination of medications? Is there another treatment that might help better? Are we missing something?” We added a magnesium supplement about a week after we started the IVs, and then upon completion of the IVs tried a steroid. All seemed to maybe help a little but weren’t bringing him back to his baseline. 

Through all of this, both his doctor and I are monitoring his symptoms through Orchestra. I decided that for a few days I would track his cough frequency in the morning, afternoon and evening to see if we could identify a pattern. I didn’t.

Around April 19 we agree that we don’t know what’s going on. She suggests that we may need a hospitalization if these symptoms are going to continue so that he can be monitored more closely. Desperate to not be admitted, I start digging into my data to see what might have happened around the time that this cough started. 

The only change that I was able to note was that we had stopped Prevacid on February 7. He had always been on Prevacid and we decided to take him off of it to see if it was something that he needed or could do without. And when I asked the care team how we would know if it was working, they said that we would notice a change in his bowel moments. I didn’t think anything of his cough. I shared my findings with his doctor and we agreed that restarting the Prevacid was not a bad idea to try.
We restarted Prevacid and just a few days later his cough was completely gone and remains gone today, three months later. This self tracking doesn’t give us the answers but it helps us to identify the questions to ask, to create a hypothesis. This is about personalized treatment options. Tracking his data like this allows us to do experiments in an N of 1 style, thinking of things to test on our own, optimizing treatment plans.

Drew isn’t an average and he doesn’t always fit into the protocol designed for the averages. He’s an individual and having this data has allows  us to better treat him as an individual. It has improved our shared decision making abilities with his doctor and has allowed us to focus on understanding what works and does not work for him. 

We can argue that 4 days of missed preschool isn't a big deal, but to a 5yr old who sits for 3 hrs a day doing breathing treatments, getting to school is his lifeline.
When Drew was 2 he had sinus surgery and I remember the surgeon suggesting that he get into swimming as he’s seen it as one of the best ways to keep the sinuses clear. He’s swam twice a week every week since then, except for when he is on IV. When Drew is on Ivs, he has a PICC and cannot get it wet. His sinus symptoms return every time he is on IV antibiotics, prompting the doctor to suggest a visit to the ENT who will undoubtedly suggest surgery. The ENT has told us that there is no scientific data to suggest that chlorine shrinks polyps, yet when we put him back in the pool the polyps vanish and his  symptoms disappear.
Drew missed spring break to because we are on Ivs and cannot travel more than 60 miles from our hospital for medication delivery and emergency purposes.
Drew is colonize with a bacteria called Achromobacter. It only responds to 1 antibiotic, which is terrifying because he is 5. Every time we are faced with the decision of starting IV antibiotics, we must weigh the risks/benefits of using this medication for fear that he will become resistant to it. Sub-optimal medication choice however often leads to longer than expected treatment periods as a sub-optimal choice produces sub-optimal results. Those decisions weigh heavily on all of us.
This self-tracking has made me more aware of my sons unique needs, and using this collaboratively with our doctor has helped to improve both his health and care. Monitoring his health and having a good understanding of what he looks like when he is well allows us to better treat him when he is sick. This is able keeping Drew alive and well, in sickness and in health, for as long as we both shall live.