Myeloma Patient Cafe® July 2017 – What Life is Like with Myeloma

Patient Cafe® Multiple Myeloma – July 2017 from Patient Empowerment Network on Vimeo.

In this session of the Patient Cafe®, a group of myeloma patients will discuss what life is like now that they are living with myeloma.

Staying Safe During UV Safety Month

In honor of July being Ultraviolet (UV) Safety Month, we wanted to share a some information and tips to keep you and your family safe this summer. The goal of this month is to spread the word about how important it is to protect your skin and eyes from the harmful effects of the sun’s UV rays. UV radiation is the leading cause of skin cancer in The United States, and between vacations, barbecues, and parties, summer is the season people spend the most their time outdoors, so by following these tips you can stay safe this summer.

  1. Find the shade – The sun’s rays are the strongest between 10:00 AM and 4:00 PM, so staying in the shade during this time can protect your skin from the harmful effects of UV ray exposure.
  2. Wear protective clothing – Try wearing a wide-brim hat that shades your face, ears, and the back of your neck. When possible a linen long sleeve shirt or pants can keep you cool and protected.
  3. Use broad-spectrum sunscreen – The U.S. Food and Drug Administration’s (FDA) regulations for sunscreen labeling recommend that your sunscreen have a sun protection factor (SPF) of at least 15, and should protect against both Ultraviolet A (UV-A) and Ultraviolet B (UV-B) rays. It’s important to wear sunscreen on even cloudy day because you can be exposed to up to 80% of the sun’s harmful UV rays!
  4. Sunglasses – Unprotected sun expose can cause vision problems and damage to your eyes, so always remember those shades!
  5. Avoid getting burnt – A burn puts you an increased risk for skin cancer and signs of premature aging.

Lastly, do not forget to routinely check your skin for changes, especially birthmarks, moles, and marks from the top of your head to your toes. Look for changes in size, shape, or color. So, have fun, stay safe, and stay out of the sun!

Diving Into The Unknown: Chanel’s Clinical Trial Success

Editor’s Note: This blog was originally written by Chanel White for Clara Health‘s Blog. Clara Health connects patients to breakthrough clinical trials.


Chanel White is a patient advocate who underwent a life-saving stem cell transplant in 2017 as a participant in a clinical trial in order to treat her Mixed Connective Tissue Disease. She blogs at The Tube Fed Wife and you should definitely follow her on Facebook, Twitter, Instagram, and Youtube.

In late 2011 I was diagnosed with an aggressive autoimmune disease called systemic sclerosis. The disease causes the body to overproduce collagen, which hardens your skin, vascular system, and internal organs.

My case had a very poor prognosis – a mere 10 years; however, my body went into widespread organ failure within the first three. I found myself at the age of 23 being fed through a surgically placed feeding tube in my abdomen, breathing through a small cannula attached to an oxygen tank, suffering the beginning stages of heart failure, and receiving home nursing visits to run infusions I was too sick to travel for.

I was once a vibrant young woman with a promising teaching career, to suddenly being robbed of basic human functions such as eating, and breathing. I was dying, and out of options after close to five years of failed treatments; it seemed nothing on the market could slow down my rapid progression.

After exhausting all the current treatment options on the market for my illness, my physicians turned to an experimental, but promising Phase 3 clinical trial.

Click here to read the full post at Clara Health.

Patient Advocacy: Ten Tactics for Mastering Social Media Success

Social media extends beyond the world of Facebook and Twitter. It encompasses blogs and other newer social platforms such as Instagram, Snapchat and Pinterest. If you want to raise awareness of your cause, amplify your patient advocacy activities, and create change where it’s needed most, social media is an important channel to share your message with the world.

Here are ten tactics you can use to master social media, make your cause better known, and grow your online influence.

1. Define Your Purpose

The success of any strategy, whether it happens on or off line, starts with defining a clear purpose for your activities. Ask yourself what you want to achieve with social media and then set specific and actionable goals to achieve it. Goals are the forerunner to success. You need big-picture long-term goals and smaller weekly or monthly goals that allow you to stay on track. For a goal to become a reality it needs to be specific, measurable, attainable, and realistic, as well as time specific. These are often called SMART goals.

Let’s take as an example, a goal to grow your Twitter followers, the following are the steps you would take to make this goal SMART.

  • Specific. The more specific you can be in defining your goals, the easier it will be to clearly see what it is you are trying to achieve.
  • Measurable. Give your goal a number. For example you could state you want to double the number of your existing Twitter followers or grow your following by 10%.
  • Attainable. Is your goal attainable? Can you realistically double the number of your Twitter followers? Or should you aim for a smaller increase to start with?
  • Relevant. Does this goal support your organization’s (or your own personal) objectives, vision, or values?
  • Time Specific. Give your goal a deadline, for example, “I will double my Twitter follower numbers by 10% in three months.”

2. Perfect Your Social Profiles

As I’ve written here before, patient advocates who are looking to change hearts and minds should consider the image they present online. What will people’s first impression be of you when they encounter your online profile? What might make them decide to follow you?  Review each of your existing social profiles with the following questions in mind.

  1. Do you need to update your bio with new information? Is there a project you are currently working on? Or a campaign you are part of?  Add this information to your biographical details.
  2. Is it time to use a more professional picture to represent yourself online? Upload an image that is clear and easy to see, like a head and shoulders shot, or your organization’s logo. You also have an opportunity to personalize your profile on Facebook and Twitter by uploading a custom header image. Use this opportunity to bring more authenticity to your account, for example you might use a picture of yourself holding a sign with a hard-hitting message.

3. Focus on Being The Expert One Channel At A Time

Each year brings shiny new social media tools and new features for existing tools. It’s tempting to jump on board the latest social platform with the aim of being everywhere at once; but rather than spreading yourself too thinly, focus on mastering one or two platforms really well before moving on to the next one. Look back on the past six months and ask yourself what you were good at doing. What worked well for you? Then do more of the same. Aim to become known as the go-to expert on one channel before you move on to the next one.

4. Create Share-Worthy Content

If you want people to share your content, you need to give them something worth sharing. The New York Times did a fascinating study a few years ago on the psychology of social sharing. It revealed that people want to connect to other like-minded people and they want to support issues they care about. Above all they want to share content that will be useful for those others in their network. Create content that your audience will want to share because they believe it will be of value or interest to others. Don’t just add to the online chatter. Before you post something, stop and ask yourself would this pass the re-share test? Why would I want to click on this information? Would I want to share it with my friends/family?

5. Create More Visual Content

In an age when people’s attention span averages 8 seconds (that’s shorter than a goldfish!) visuals are memorable and effective because they help people process, understand, and retain more information more quickly. Furthermore, people connect more emotionally with images than text, and in an increasingly crowded digital landscape images can break through the online content clutter. The type of visual assets you can create include images, videos, infographics, quotes, and GIFs. There are many tools out there which help you create appealing images without any design skill. I’ve put together a list of free tools here which you may find useful.

6. Make It Easy For People To Share Your Content

By making it easy for visitors to your website or blog to share your content, you increase the likelihood that they will take this action. Make sure your social sharing buttons are clearly visible. This is the most obvious (though sometimes overlooked) way to encourage readers to share your content. Make it easy for readers to share your posts by incorporating share buttons for the main social media sites on your blog. By placing the buttons on the side or at the end of the article, people will be more inclined to share the article.  Use a tool like Click to Tweet which generates one-click tweet boxes or links that can be shared through your website, your blog, or via email, to increase social shares and highlight relevant quotes, stats, and key takeaways.

7. Leverage Hashtags

A hashtag (#) is a popular way of creating and monitoring a conversation on social media. While most often identified with Twitter, posts can also be tagged on Instagram, Pinterest, Google Plus, and Facebook. Don’t over-use hashtags on Twitter. Research shows that tweets with more than two hashtags actually see a drop in engagement. Check the Healthcare Hashtag Project for relevant healthcare hashtags.

8. Maintain a Consistent Content Creation and Promotion Schedule

Social media marketing is an ongoing commitment. You need to post consistently to stay in front of your audience’s eyes and keep growing. Set aside one day each month to map out upcoming events, holidays, and so on, which you would like to write or post about. Then use a simple excel spread sheet to create your content calendar. Do the same thing with another spread sheet for social media postings.

One key to maintaining a steady stream of quality content is to re-purpose what you already have. Check your blog’s analytics to see the most popular posts you’ve written. Can you expand on these to include new research or thinking? Perhaps the content can be turned into an infographic or a slide-deck. By re-purposing content you have already written, you can extend and breathe new life into your current and past content. Check out these ten creative ways to repurpose your content for more ideas.

9. Optimize Your Engagement

To optimize your social media engagement, it’s useful to know the best times to post your updates so they reach your audience when they are online. If you search for optimum posting times, you will find many guides online. They vary in their advice, so it’s always a good idea to do your own testing to determine the optimum times for your own particular audience. Once you’ve determined your optimum posting times, use a scheduling tool like Buffer or Hootsuite to schedule your updates to reach more people, more often.

10. Track and Measure Your Progress

How do you know if all the time you’re investing in social media marketing is paying off? You don’t know unless you put a system in place to measure and analyse your progress. Most of the main social platforms has their own analytics built in. Regularly tracking and measuring your activities on social media helps you see what is working (or not).

Using these ten tactics will help you focus on your goals more clearly, promote your key messages better, and measure your activities more effectively. Don’t expect all of these tactics to work right away. Social media is a strategy that will succeed long-term, rather than be a quick success. If you want to see real results, you must be prepared to commit to it long-term. Finally, remember the goal is not to be good at social media for its own sake; rather the goal is to be good at patient advocacy because of social media. Social media are powerful advocacy tools, but they are just tools. It’s within how you master those tools that the real power lies.

It’s Not About Vanity, It’s About Identity

Editor’s Note: After a long and resilient battle with primary peritoneal cancer, Roberta Aberle, 53, of Auroro, CO passed away on November 1, 2017 with her husband David Oine at her side. Even as she battled her own cancer, Roberta was a tireless advocate for patient care, hoping to improve the lives of others also fighting life-threatening illnesses. She will be greatly missed by all who knew her.


Appearances do matter. Let’s face it. Whether we like to admit it or not.

My appearance has always mattered to me. But cancer takes over your appearance, forcing you face an unknown entity in the mirror. Even with average looks and physique, I was always comfortable in my skin. Until cancer.

I dreaded hair loss as many do, but little did I know there was more to dread.

How I wish someone had told me losing your hair is minor, wait until you lose your eyelashes and eyebrows. Hair aside, the eyes are the gateway to your soul. My eyes without the familiar frame of eyelashes and eyebrows look distant, shallow and colder. I became a face no longer recognizable even to myself.  

The injury added to the insult is my body ravaged with scars. Each day brings a new blemish in some unexpected place. Bruises even on the tops of my feet. Aches and pains so deep no topical or pain medication can even touch it. A body that wants to lie in bed all day.  I don’t want this to be my body. I don’t know this body.

My scalp feels constantly agitated as hair grows back. Yet, I can’t run my fingers through wavy, soft hair, it’s a mere patchwork of kinky, coarse sprouts of regrowth. I can compensate. I can wear my “hair” aka ‘a wig’. I have scarves, headbands and hats to rival any celebrities accessory closet.  But I’ve lost the appearance that used to be uniquely me.

Wigs itch, as do most hats. Scarves are equally obviously just covering the sparseness underneath. All just poor attempts to mask the reality anyway. When in public with any headwear it’s impossible not to be self-conscious. Some days I think, certainly I shouldn’t have to put on this façade. But I do. Day after day.

And why is that? Aren’t we living in a more enlightened period? We’ve moved stigma of cancer beyond whispers and shushing in society to being more vocal and “out” about our disease, haven’t we?

Sadly, not completely. When I was completely bald, I did my own social experiment if you will, I ventured out with the least possible masking of my illness. Just a simple hat. No attempt to conceal my pinkish scalp. No fake bangs or wisps of hair to falsify it. No attempt at false eyelashes or painted on eyebrows. Just me trying to be bold.

Everywhere I went. Eyes averted mine, no one looked me in the eye. The store clerk pleasant enough, kept turned from direct eye contact. Other shoppers browsing, fixated on store racks instead of acknowledging me. I caught a few stares, but when I smiled at them to ease the awkwardness, they just looked away as if caught in some sinful act instead of pure curiosity.

For the first time in the span of an entire day, not a single stranger approached or spoke to me. What an isolating way to go through a day. Was it just me giving off the vibe of unfamiliarity and therefore calling it to me? Who’s to say or know? But it didn’t feel good. Experiment failed.

So, I put my hair back on and join friends who accept me with or without hair. An act that is not about vanity, it’s about identity. Cancer can strip you of the visual aspects that we attribute to vanity. But when cancer not only reflects the disease inside, but projects a spirit uncharacteristic of you to the outside, it becomes about your identity.

In the moments we find to escape our illness; the music can play, the rain can stop for the sun to shine through again, the rainbows can appear. But amid the laughter and smiles, no one has any idea of the burden of sorrow on the mind and soul of those in the cancer experience. They go home at the end of the day, reflect on their worries that while significant are typically not about life or death. We go home at the end of the day and have to study meds to make we’ve stayed on schedule. Feel distress at the new pile of bills and claims owed. Play catch up with the pain or nausea. Then we try to settle into bed and clear our minds of the gravity of the living with a lethal diagnosis.

My hope is that instead of internalizing the slights of strangers, we can find it an interesting study in human behavior. Or the next time we see someone in an obvious state of illness, we can make eye contact, extend a compliment, or project a smile. Don’t let any appearance dissuade you from doing so.

Health Literacy – Bedrock of Empowerment

The Internet is a wonderful thing. It helps people across the globe connect, communicate, and argue about everything from the Oxford comma to what’s really in a hot dog. Full disclosure: I’m all about the Oxford comma, and avoid hot dogs because I don’t like nitrites.

I come from the time before the Internet – in other words, I’m well over 50 – but as a journalist I embraced digital technology as soon as it arrived (for me, that was 1980), and have been using it to fact-check ever since. Which is why I view health literacy as the foundation of patient empowerment, and helping build health literacy as the mission of empowered, activist patients worldwide. And why I view the Internet as our best tool for health literacy building, personal and community.

Because health literacy requires a grasp of basic science, it can feel challenging to someone who didn’t love biology class, or who found themselves floundering in physics lab. That’s where patient communities really shine: helping newly diagnosed folks figure out what the heck that was that the doctor said, or how to read a lab report, or why [insert condition here] even showed up in the first place.

Here is what I consider the Top 3 Things for yourself and your family’s health literacy building:

  1. Know your risks. What is your family’s health history? Is there a line of folks who lived to 80+, or a family history of heart disease and stroke? Did you grow up in an area with a lot of industrial pollution? What’s your personal health history (asthma, sports injuries, etc.)? Knowing these things can help you, and your clinical team, set up an “early warning system” to monitor your health status.
  2. Write it down. Once you start gathering information, write it down. You can keep it as simple as a composition book, or as complex as a spreadsheet. The key is to keep records that you can share with your doctors, and your family, to keep everyone informed. There are online services, including mobile apps, which can help you do this. A good overview of that whole universe is on the MyPHR site.
  3. Read all about it. When you have data (the information from #1 and #2), you can start turning that data into knowledge. Learn, from trustworthy, science-based sites like Medscape, MedLinePlus, and com, what the straight scoop is on symptoms and treatments for pretty much any disease or condition that affects humans. Add Health News Review to your reading list for solid myth busting on the latest medical miracles (spoiler: they’re usually not miracles) by health journalists with years of experience. Bonus tip: if you’re looking for cost information on specific treatments, check out Clear Health Costs.

You now have three things to get you started. You’ll see more on the health literacy topic from me in the coming months, and I welcome your questions and topic suggestions. Let’s learn, teach, and share, together!

MPN Patient Cafe® July 2017 – Finding Trustworthy Information

Patient Cafe® MPN – July 2017 from Patient Empowerment Network on Vimeo.

Carol Preston is join by MPN patient, Andrea, and her care partner, Denise in this session of the Patient Cafe®. They discuss where MPN patients and their care partners can go to find trustworthy information.

Living Well with MPNs – What You Should Know About Genetic Mutations

What You Should Know About Genetic Mutations

Living Well With MPNs: What You Should Know About Genetic Mutations from Patient Empowerment Network on Vimeo.

Should you get a genetic test? JAK2, MPL, CALR, ASXL1: Mutations associated with myeloproliferative neoplasms (MPNs) can bring up lots of questions. What do they mean, and how do they impact your disease? The goal of this webinar, featuring Dr. Alison Moliterno from Johns Hopkins School of Medicine and Dr. Stephen Oh from Washington University School of Medicine, is to help patients understand genetic mutations.


Transcript:

Andrew Schorr: Hello and welcome to this Patient Empowerment Network program, produced by Patient Power. I’m Andrew Schorr joining you from Carlsbad, California. Over the next hour we’re going to talk about something that’s very personal to me and probably to you, and that is the whole idea of genetics related to living with an MPN. What does it mean? Does it change over time? What is your version of an MPN? What does it mean for prognosis? What does it mean for treatment? What does it mean for clinical trials opportunities? So we’re going to be discussing all of that.

I want to thank our sponsor, Incyte Corporation for supporting this educational activity. We’re going to cover the country and we invite your questions as we go along. Send them to MPN@patientpower.info. Many of you have. And remember if you have to bow out at some point, the replay will be available and we’ll have video clips. So we’ll reach literally a few thousand people living with MPN worldwide, and we’re happy to do that.

Let’s get started. First I want to introduce you to one of our medical experts who’s joining us. He’s been on programs before. He joins us from Washington University and the Siteman Cancer Center in St. Louis; that’s Dr. Stephen Oh, who is an MPN expert there. Dr. Oh, thank you so much for joining us.

Dr. Stephen Oh: Hi, Andrew. Thanks for having me.

Andrew Schorr: Thank you, Stephen. Okay, let’s go from St. Louis to Baltimore, Maryland and the Johns Hopkins University Medical Center and another expert in MPNs who’s been with us before, and that is Dr. Alison Moliterno. Dr. Moliterno, thank you so much for being with us today.

Dr. Alison Moliterno: Thank you, Andrew. Thank you for having me.

Andrew Schorr: Sure, pleasure. We’ve got a lot to cover. And then also I want to welcome back one of the members of our community, someone who was diagnosed many years ago, a couple of decades ago with ET, and then a year ago it became myelofibrosis. She’s a preschool teacher in Peoria, Illinois. She’s been with us on our programs before; Marsha Krone. Marsha, thank you for being with us once again.

Marsha: Thank you. Hi, Andrew.

Andrew Schorr: Marsha, let’s visit for a minute. I was diagnosed in 2011 and then eventually had a genetic test which came up with a bunch of results. One of them for me, if I get it right, JAK2V617F.

I had no idea what that was, and then a couple of other genes that to me seemed kind of like alphabet soup. And I had one of the peers of these experts here, Katrina Jamison. We went over it and she said I think it’s the JAK that’s kind of driving things. We’re going to talk about what are the driver genes, and what may not be, or what do we know at this point. Marsha, you had a genetic test, too. What did it say?

Marsha: My genetic test came out as Calreticulin type 2.

Andrew Schorr: Okay, so we’re going to figure out what that means. Dr. Oh, let’s start this way. People think genetics. I know genetics maybe had something to do with being bald, and I see you have a similar hairline; or dark hair, or brown eyes, or whatever. Hereditary genes; are we talking about that or are we talking about something different?

Dr. Stephen Oh: That’s a basic question that comes up with almost every new patient that I see.

The short answer is that when we’re talking about genetics with relation to the MPNs, we’re not talking about those kind of things that you’re born with that may affect your hairline and whatnot. These are genetic mutations that are acquired over time that you’re not born with; they’re not passed down to your children or your relatives, etc. So that is a very important distinction that I try to make clear with every new patient that I see.

Andrew Schorr: Okay, and one follow up question to you. People say okay, Doc, what gave me this genetic injury, if you will, to lead to these illnesses? Do we know?

Dr. Stephen Oh: That’s another question I cover with almost every new patient; that I think for that one I guess the answer is a little less satisfying. My answer is that for the most part it’s random chance.

What I mean by that is that we know particularly from research that’s come out n the last five or so years that all of us acquire mutations randomly over time as we age. But fortunately for most individuals, those mutations land in spots where they really have little to no consequence. But for those that, for instance, acquire the JAK2V617F mutation or acquire a Calreticulin mutation, that really becomes most likely the main driver for what ultimately becomes an MPN.

Patients of course ask did I do something wrong, was I exposed to something? And while we can’t necessarily exclude that those are factors, I think for the most part it’s that just kind of randomly these mutations landed in the wrong place.

Andrew Schorr: Dr. Moliterno, we’ve mentioned a couple of these onco genes I think you call them – cancer genes, the JAK2 gene and Calreticulin type 2, I didn’t even know about that.

Can you first of all rattle off some of them just so we know the landscape of what are genes that seem to be associated with MPNs today, knowing that this will probably expand?

Dr. Alison Moliterno: I always like to tell patients a little bit about the history when these were first diagnosed because we talk about them now as if they’re common knowledge, but they are really quite recent in our understanding. We’ve known about the myeloproliferative diseases for more than 100 years, but it wasn’t until 2005 until the driver of many of the diseases was understood to be JAK2V617F. So that discovery occurred in 2005. Before the JAK2 discovery, we didn’t understand really if it was acquired mutations and what genes were involved. JAK2 is the most common of these.

If you look at 100 patients with the classical MPN, meaning PD, ET, and myelofibrosis, 75 percent overall of those individuals will have the JAK2V617F mutation. Not long after the JAK2V617F mutation there was a discovery in mutations in M-P-L or MPL. That accounts for about 5 percent of those 100 individuals with either ET or myelofibrosis and then in 2013, that was the discovery of the calreticulin mutations that comprise about 20 percent of individuals who have ET or myelofibrosis. So 2013, that’s fairly recent and those are the three drivers.

I like to say that if you could put the same mutation, the JAK2V617F or Cal or MPL mutations that we see in our patients, if you could put those, say, in a mouse; they would drive a similar disease in the mouse so that you get polycythemia vera in a mouse if you make the mouse have the V617F mutation. That’s how we’ve kind of come to understand that they drive the disease. They may not drive all aspects of it but they drive the basic process.

Andrew Schorr: I know there’s another gene that people have seen too; ASXL1. What is that one?

Dr. Alison Moliterno: In addition to these drivers we’ve also discovered a lot of genes that seem to modify the MPN or associate with certain subtypes of MPN. So for instance I said usually JAK2 MPL or CALR can all drive platelet count high and give a disease like ET. Then what happens when patients develop myelofibrosis? We find that perhaps other lesions are acquired.

Those are genes that don’t drive myeloproliferation so much but they seem to drive the way that the chromatin or the nucleus is managed; they seem to maybe set up the other aspects of MPN that associate with myelofibrosis. And ASXL1 is probably the most common additional genetic lesion or acquired mutation that occurs in individuals with myelofibrosis.

Andrew Schorr: Okay. Dr. Oh, people may be tested and we’re going to talk about who should be tested and when. How do you know what’s the driver gene? And it sounds like this continuation of identifying genes just keeps going, too.

Dr. Stephen Oh:Certainly Dr. Moliterno gave a nice circle overview of when the three primary driver mutations were discovered.

We’re sort of lucky now that in today’s day and age we kind of look at this now as standard testing. So JAK2, MPL and calreticulin so much so that many physicians including myself, we kind of go about this in an algorithmic fashion. So for instance if I have a patient with newly diagnosed myelofibrosis, I’ll start by screening for the JAK2 mutation; if that’s negative, go to Calreticulin and if that’s negative go to MPL.

And so with those three genes, the majority of patients with any of the three main MPN subtypes, whether that’s QV, ET, or myelofibrosis; they’ll be positive for one of those three. There’s a subset that’s at least on the order of 10 to 15 percent of patients with ET and myelofibrosis who will be negative for all three of those mutations, what we’re now calling the triple negative category. But the vast majority of MPN patients will have one of these three mutations which we consider the main driver of mutations.

So, in some sense again we’re sort of fortunate that it’s become almost straightforward in terms of at least the top level genetic testing for these diseases.

Andrew Schorr: So that was my question to you, Dr. Moliterno. Some people have maybe had fights with their insurance company or their doctor as related to testing. How do you view this now and how could it be positioned on how it’s really not elected, if you will, but essential to get a clear picture of an individual patient’s situation?

Dr. Alison Moliterno: This comes up in my practice and I’m sure Dr. Oh’s practice all the time, in that in the olden days before our understanding of what causes these diseases, and again the cause was these acquired mutations and in the olden days we would use histology, looking under the microscope, looking at blood counts and sort of put a name to this polycythemia vera and myelofibrosis.

But within that was such a vast variability of what the disease actually was, that that name really did not tell us too much. Now, we’ve really come to understand that what you have is defined by these molecular lesions. They’re not just of academic interest; they actually really tell us quite a bit about what you’ve got, what your prognosis is, and where it’s going. So physicians, we really can’t function and counsel patients appropriately without this knowledge. So there’s no longer elective or of interest; it’s really critical in defining what you’ve got.

Andrew Schorr: Okay, everybody. You heard it, so this is what you’re advocating for with your MPN specialists, which hopefully you have like the two with us. This is standard operating procedure; there shouldn’t be nay question with an insurance company or anybody to help you and your doctor know what you’re dealing with

But then the next question is, Dr. Oh, where are we now even in research, where things are headed so there will be treatments that line up with the different genetic situation?

Dr. Stephen Oh: I’ll start my answer to that question by going back to when the field began to develop inhibitors of JAK2 for the treatment of patients with MPNs and extrapolating from other diseases, I think there was an assumption that the patients that would respond best or if at all to JAK2 inhibitors would be those that carry the JAK2V617F mutation. What we now know quite clearly is that even those patients that do not carry the JAK2 mutation, they also tend to respond to JAK2 inhibition. So again in the case of myelofibrosis, patients who are calreticulin mutants, they also respond to JAK2 inhibitors as well.

So that’s an example where I think in a good way the use of those kinds of treatments is not limited or defined or restricted mutational profile. But otherwise in terms of the research front, identifying or defining treatments specific to different mutations, we haven’t made a lot of headway there. For instance, you can imagine now we have identified the calreticulin mutation in many patients with MPNs; can we devise a treatment specific for that? So while again on the one hand like I mentioned, it’s a good thing that those patients do respond to JAK 2 inhibitors; can we come up with something very specific to calreticulin with the patients there?

There are certainly a number of research groups that are working on that kind of question, but we currently do not have anything specific in that regard.

Andrew Schorr: Dr. Moliterno, I want to get a question from you about that because I’m sure you’re asked. Somebody says well – Marsha could come to you and say well, I’m CALR so what do you have for me? And/or you also mentioned triple negative, and I think often I’ve heard that term in breast cancer; women who were triple negative there, and say what do you have for me in that situation? So talk to us a little bit about those situations, and does it vary now with treatment approaches yet?

Dr. Alison Moliterno: I think another aspect of this is we may not today have the specifically targeted treatment but as Dr. Oh mentioned, what we’ve learned is that these three main lesions, CALR, MPL, and JAK2 all seem to over signal or work their effects through this JAK pathway.

So even though you may not have the JAK2 mutation but you have the CALR, it seems like the end result of over signaling is in the same pathway and therefore JAK inhibitors would be beneficial in individuals who have that over signaling pathway. So that’s one thing we’ve taken away; that while even though we don’t have – and that’s a good thing because that tells us that inhibiting this pathway overall will benefit the majority of individuals with these lesions, whether they’re JAK2 or CALR or MPL.

The other thing about the profiling is how much of the mutation you have. So another I think we’ve learned is that we can measure the amount of these mutations, and that’s a variable across patients and gives us quite a bit of information about – again – the type of lesion, disease you have and gives us  better information about the prognosis and why you might have a little more fibrosis than someone else.

So again, the type of lesion you have and the amount; we’re now learning to use that information. I think another thing we’ve learned is these terms triple negative, which is a term that we understand okay, that means you don’t have any of the three drivers that we know of.

But as we’re learning more about extended mutation paneling or doing different tests to look at the entire genes, we’re finding that most of those individuals really do have lesions in the JAK2 gene, or the CALR gene or MPL that maybe aren’t in the specific areas that the test was sent for. So that’s another benefit of this revolution in being able to define these lesions personally so that your disease really can be diagnosed.

Andrew Schorr: Okay Marsha, you’ve been sitting there quietly and I wonder, is this making sense to you? You’re my co-host with this; is it making sense?

Marsha: It does make sense. When I first was diagnosed, they just said you simply have ET because you have it. Then they discovered more mutations. I like to know everything about how my body is working, so I wonder how valuable it is to have additional genetic testing to see if you have other mutations that may affect prognosis?

Andrew Schorr: Right. So Stephen, and also like serial testing at some other time? She went from ET to MF over many years, so when do you test again or how does this change?

Dr. Stephen Oh: Speaking sort of broadly at first, the more extensive genetic testing which is available through numerous laboratories now, which can test for any – quite often these panels went through 20 or 40 genes; some of them hundreds or more.

The use of those in the clinic has evolved pretty rapidly over the past three, four, five years. In my own practice five years ago I was certainly not routinely recommending that kind of testing. But today, particularly with patients with myelofibrosis, I am doing it much more frequently and the question of course is as you raised; what utility does it have in terms of prognosis.

And there especially I think in myelofibrosis, is where more and more literature has come out giving us a better handle on what effect these different mutations might have on prognosis. That’s why more and more I’m beginning to recommend this kind of testing for my patients with MF.

In the case of QV and ET, it’s a little bit further behind in terms of data to indicate what these different mutations might mean, but we have also seen more literature come out, not as often but do consider that kind of testing for those patients as well. In every case it’s kind of an individualized discussion with the patient. I always start out with how much do you want to know. Marsha said I want to know everything, so that’s the kind of patient where you say alright, well, maybe let’s do this.

Others say well, I don’t really necessarily know I’m going to interpret this; it’s alphabet soup. Do I necessarily want to know what the statistics say to expect in 20 years, etc.? Again, it’s an individualized decision with every patient.

Andrew Schorr: Dr. Moliterno, there was another patient who was going to join us who couldn’t make it because she’s being scheduled for a transplant. She’s getting her life in order for that; someone with I think myelofibrosis in the Seattle area.

But she did have three mutations identified, so let’s see if this makes sense: ALX1, if I get it right, TP53 and SFB1, if those are other ones? So the fact that she has this sort of alphabet soup, does that mean that that meant you’re headed for transplant because that shows up? You know, one knows is more – more weighty, if you will.

Dr. Alison Moliterno: This is knowledge that we’re kind of pulling in as we speak, and that the meaning of more than one mutation, different types of mutations do seem to have prognostic significance.

So as we’ve learned that generally the more mutations you have, more individuals at a certain point of time generally is concerning. It means that there’s a lot going on in that stem cell and that maybe there’s some instability to allow these mutations to occur. And then it does matter which type. Some mutations seem to have more independent prognostic than others. ASXL1 tends to be one that is seemingly more associated with developing myelofibrosis. SF3B1, one of those she has, may be a less negative prognostic indicator.

But again, these are important and having three at once is a concern, and it sounds like a reasonable plan to move forward with transplant because we understand that we don’t really have a medicine that can address all of those lesions and that this is more high risk disease.

Andrew Schorr: I want to remind our audience a couple of things. One is you’re hearing how sophisticated the testing is, and then you can imagine the interpretation.

We have two noted experts. The typical hematologist is not going to see this very often. So whether you go to Washington University, I go to UC San Diego, Marsha goes to the Lurie Cancer Center, Dr. Moliterno is at Johns Hopkins. You know some of the others where you go; you want to consult with an MPN specialist. As the data comes back, what does it mean for me now or on your journey in the future.

The other point I wanted to make is of course we want to take your questions. So send them to MPN@patientpower.info and our wonderful MPN community manager, Jamie, is standing by and she’ll be forwarding these to me. Obviously, a lot of you ask very personal questions; what should I do, Dr. Moliterno, Dr. Oh; I’ve got XYZ. And that’s not fair to do that here, so that’s our disclaimer. You want to go back to your MPN specialist – it could be one of them – to discuss it.

We did get some questions in earlier. Dr. Oh, Tammy wrote in and she said can you provide more information on being PV JAK2 negative? She says I know we’re limited in number compared to other patients. It would be nice to know the basics. How much more different are we and is our treatment any different? So, JAK negative PV.

Dr. Stephen Oh: That’s a great question and it’s a challenging question. I would say that in part because we know that in the case of PV, at least 95 percent or greater of patients with bonafide PV carry the JAK2V617F mutation and it’s at least 95 percent; it may be higher than that. And even those that are negative to the JAK2V617F mutation, there’s another small group, probably less than 1 percent, who carry an alternative JAK2 mutation, an exon 12.

 So between those two, patients with PV, again the vast majority do have a mutation in JAK2. That does leave a small sliver that you could call JAK2 negative PV, and there – it’s sort of being a skeptic – the first thing I say when I’m asked to evaluate a potential case like that is am I convinced that is the correct diagnosis? Do they truly have PV versus a potentially secondary cause of erythrocytosis?

And so there, sort of again you have to rely on the old school diagnostic criteria; do they otherwise have the features of the disease? Does the bone marrow, is it consistent with the diagnosis? Are they like a classic patient in that they have a low epo level, etc. But to get to more specifically to the question, if you’re convinced that that’s the correct diagnosis, essentially I treat the patient the same way I would treat a JAK2 positive PV patient.

In other words, I would use the same kind of treatment calls in terms of a hematocrit less than 45, treat them with cytoreductive therapy and the appropriate circumstance if they’re considered high risk, if they have had a prior history of thrombosis; aspirin considered standard therapy for these patients. Again, if I do believe that is the correct diagnosis, I essentially treat them similarly to patients with JAK2 positive PV.

Andrew Schorr: Okay, and Alison, do you concur in that?

Dr. Alison Moliterno: I do. I think we have a name for the disease, polycythemia vera, where you make too many cells due to an inherent stimulus of the bone marrow. I think now in this age, we are really coming to redefine PV as the disease that has mutations in the JAK2 gene. I’m always concerned when someone has been diagnosed with JAK2 negative PV because as Dr. Oh says, maybe they have something else.

A couple circumstances that I’ve observed is that sometimes the diagnostic testing, when it was done and it was done with JAK2V617F testing that was not sensitive enough. So again we have this issue of how much of this do you have? And some PV patients can have very low levels of the JAK2 mutation that if you use an assay in a laboratory that wasn’t very sensitive and you only detected levels of 10 or 20 percent, they would be read out as negative. That’s happened in my practice a few times where patients went high and low all over the place trying to get a diagnosis; JAK2 negative. Finally when a more sophisticated or sensitive test was done, they’re positive.

The other issue is that there are other mutations aside from V617F in the JAK2 as Dr. Oh said; there’s exon 12 and then there are some others in various parts.

So when we do some of this more expanded molecular profiling, the laboratories are able to look not just at the V617F site, which is where most tests – they only tell you yes or no at that site; but they’ll look at the entire part of the coding region of the JAK2 gene. You’ll find patients who have an unusual mutation down the way that’s like – And I think it’s important because there are some people who really don’t have a myeloproliferative neoplasm; they have something else and they’ve been told for 25 years that they have PV.

And it is nice to either make that diagnosis or not. And so I think Stephen has been in that situation also, where maybe they were labeled because that was the best information we had at the time, but they really should be reevaluated.

Andrew Schorr: And I think that’s the point for our audiences. You with the best testing, with the best specialists you can get to, you want to know what you’re dealing with; what is your situation.

Here’s a question we got so Marsh, just for you. You mentioned at the beginning, Marsha, that you have CALR type 2. Can you describe that? So let’s make sense of that. There was a support group leader, Kim, who wrote in. Kim wanted to know how do CALR types 1 and 2 manifest and progress? Dr. Oh, what’s the difference between CALR1 and CALR2? What does it mean?

Dr. Stephen Oh: There are a variety of different types of mutations in the calreticulin gene, but the so-called type 1 mutations are the most common and the type 2 are the second most common; slightly different. Functionally they may have slightly different effects, although I think as a class, these calreticulin patients have more similarities than they do differences.

But there has been some literature to suggest that overall, calreticulin mutations are felt to be associated with a more favorable prognosis, at least compared to patients whoa re JAK2 mutant or perhaps triple negative. But specifically those that have the type 1 calreticulin mutation, the data is strongest that they have the most favorable prognosis. So based on that, you could say – the simplest thing is to say if you’re calreticulin mutant, you have a more favorable prognosis.

But perhaps the more nuanced is that that is particularly so for those that have the type 1 calreticulin mutation. In Marsha’s case it’s interesting, and to me a little bit of a paradox in that type 2 calreticulin mutations are, relatively speaking, more common in ET than they are in myelofibrosis.

So in that sense it’s perhaps not surprising that she has the type 2 calreticulin mutation. But overall, of course, ET has a more favorable prognosis than MF so it’s a little, in that way, a bit of a paradox. And the other way to look at this, and this has certainly happened for myself and I’m sure it happens with Dr. Moliterno is these patients with ET or myelofibrosis who were diagnosed many years prior, before calreticulin testing became available, you then tested for the mutation and confirm they were calreticulin once that test became available.

It’s one of those sort of: well, I just confirmed what I already knew which is that they had a more indirect course over these many years.

Andrew Schorr: It’s just amazing. Fortunately we can talk about this, and hopefully the word better prognosis sounds ] great.

So I, with primary myelofibrosis diagnosed with the JAK2V617F gene, Dr. Moliterno. But when you talk about prognosis, now you’re introducing medicines that we haven’t had that long; like for me. I’ve been on ruxolitinib now four and a half years and it’s been working. So how do we – when you talk about prognosis related to genes, though, that relates to what treatments you have, right?

Dr. Alison Moliterno: Right. We have a lot of work because these genes do have meaning; what version you have, and they’re going to have meanings in terms of prognosis but hopefully also we’ll start to gain information about really how you respond to therapy. So far, it seems that it doesn’t matter too much whether you have JAK2 or CALR mutation in response for  ruxolitinib.

But I think as we extend or molecular profiling, maybe we will learn that some lesions are less responsive or less favorably responsive to have some of these agents, and might be more responsive to agents that we have in the future. So I think we have to use this information both diagnostically, prognostically, and also just kind of monitoring our treatment expectations to some of these new agents.

Andrew Schorr: Right, it’s a moving target and I know you have a few things in trials. So just to tie the knot on testing, Dr. Oh; somebody wrote in and said: look, my doctor doesn’t require genetic tests. Where do I start and how do I ask for it? Because we’re hearing the two of you saying it’s pretty standard for you to get a clear picture of what the situation is. So is, how shall I say it, self advocacy related to testing today for an MPN patient important?

Dr. Stephen Oh: I think it definitely is. These diseases, while they’re not super rare, they’re not as common as hypertension or whatnot. When you go to a hematologist or oncologist who does not see very many of these types of patients, they might not be TransDigm on the testing that’s available. And so from that standpoint, I think certainly self advocacy is important. This has been emphasized already but getting to an MPN specialist is important.

If we’re talking about in the workup stage, it’s just sort of imagine different scenarios. There certainly could be a situation where the physician, whether they’re an MPN specialist or a more general hematologist or oncologist; they may not feel there’s a testing and that could certainly be the case.

[00:54:02]

But if there is a strong suspicion of a possible MPN, then I think there’s no question this kind of testing should be done. Even in the situation I’ve encountered with some patients where the insurance may require preauthorization, if you go through that it’s almost never rejected.

Andrew Schorr: Dr. Moliterno, here’s a question we got in from Jane. Jane writes: my understanding is that JAK2 is an acquired genetic mutation, and you both spoke about that; not inherited so we’re clear on that. Is it known what variables cause this mutation? I got the impression from what Steve said, no. But then she asks; can this gene expression be reversed?

Dr. Alison Moliterno: Right. First, why did this happen. I always joke with my patients; I tend to think MPN patients tend to be the most highly educated, intelligent, beautiful and have healthy lifestyles; why would they get this? MPN or not, disease is a lifestyle or other processes that we can sort of point to. I think in terms of if we just focus on JAK2V617F, that’s an acquired mutation in the bone marrow stem cell, but we’ve come to learn that this is a fairly common mistake, acquiring this mutation.

So if you look at my bone marrow stem cells, you can find evidence that this occurs frequently as a mistake; almost like a typing error that we all make on our keyboards, and that this happens at a fairly high rate. Most of the time as Dr. Oh mentioned, it is deleted or it’s in a cell that doesn’t have a long lived lifespan so it really doesn’t propagate in the bone marrow.

 Some fascinating studies looking at the cause of this; what are the factors? So, this Danish study looked at 43,000 individuals that participated in a healthy Danish lifestyle activity. They said they had stored DNA samples from blood. These were well people; they did not have myleoproliferative disease. But they found that they could detect the JAK2 mutation, V617F in a reasonable percentage of these well individuals, and that this was more prevalent the older they got. So that over 80, I think it was .2 percent of individuals actually tested positive for this. They were able to look back and show that yes, most of these people didn’t have an MPN, although some of them did have higher blood counts.

When they followed them, some of them did go on to develop MPN. But the point of that is wow, this is a common, natural occurrence and it most strongly associated with aging. Most MPN patients are in their mid 50s when they’re diagnosed; some very young and some are much older. So again, while gee, 50 isn’t that old, 50’s not that old. So again, there must be other factors that allow that to occur. And these large population studies, I think smoking has been an association; again maybe helps accelerate that mutation growing.

There’s host factors, and that maybe we have reasons that we will make that mistake more often; s genes that we have perhaps that we’ve inherited that influence how well we have integrity in our DNA. So that just gets a little to why did this occur.

Andrew Schorr: What about turning it back, though?

Dr. Alison Moliterno: Right, turning it back and I think this is another thing that is important. Again, when we think about surveillance, we do know there are some therapies that can specifically turn down or squash that clone and I think many of us have heard or even experienced patients who are on interferon, or pegasys, pegylated interferon. And we can see that if JAK2 disease can go into a hematologic remission and even molecular remission that the JAK2 clonal burden reduces and may even go to zero.

This has also been shown with CALR mutation positive individuals in small studies that perhaps we can suppress that. So we hope someday to – it’s still a little frustrating; not all patients have that benefit. It’s not clear which patients will go into these molecular remissions of turning it down.

But I think we will get there and we hope that JAK2 inhibitors would have that effect. I think the data still there are not pointing in that direction, but I think we will ultimately be able to actually target that clone and control how it expands and turn it back.

Andrew Schorr: So Stephen, take us into your labs and into the research that’s going on around the world. How fast is this changing now? Alison talked about 2005 with JAK2 discovery and you had CALR and some of these others. What’s the rate of change now?

Dr. Stephen Oh: I think there’s different perspectives you can look at this. For those of us that are doing laboratory research, we feel in the field that things have progressed quite rapidly.

To go from 2005 discovery of the JAK2 mutation to small molecule inhibitors going into patients I think within two years or less to this one drug being FDA approved a few days later; that pace of discovery and development has been quite rapid. The identification of the calreticulin mutation in addition to MPL, those are really landmark discoveries in this field.

For patients, I think the perspective might be that wow, I wish it could move faster and we kind of know as a class in general what JAK inhibitors do; can we move onto the next level, or next phase, or next class of treatments? And I think there is where my long term outlook is very optimistic, but in the short term we don’t really have that  kind of next candidate clearly identified as to what to do next after the JAK inhibitors.

Andrew Schorr: Dr. Moliterno, we always talk about clinical trials. This relates to the progress you all are trying to make. We’re your partners in that. As you do the testing and you say oh, now we see this gene, and we see this one and this one and we’re trying to figure out who’s the bad guy, or is this new one a factor that we’ve identified? So what would you say to us as we lived hopefully long term with these conditions about considering being in a clinical trial to help you make these discoveries?

Dr. Alison Moliterno: We have had great support from our patients, not only in participating but also helping design these trials or partnering with us. As Stephen said, these are rare diseases so we don’t have 50,000 individuals to test whether aspirin works or not like you can in a cardiology trial, and get that answer in a year and make a difference for individuals.

I would say that the trials now are going to be a lot more molecularly based. So instead of just disease, MF yes or now; these trials are now going to have the molecular profiling and response to therapy as part of their design. I think that will give us a lot more information overall than we’ve had in the past. So there’s many benefits to this molecular revolution.

One is understanding the cause of the disease, the other is monitoring it over time, and then response to trials which individuals respond to; which therapies. I think we’ve all seen the television ads about Keytruda and patients, as you mentioned early on with different solid tumors and particularly lung cancer, and how really the profile of that tumor needs to specific targeted therapy, and that’s what we want for MPN.

 Then now we’re even learning that it really doesn’t matter where a cancer may have started; if it’s in the kidney or in the lung, that again the molecular – the drivers of that indicate that you may respond regardless of what organ it started in; it’s really the lesion that you’ve got. And I think we will be bringing that to MPN patient trials.

Andrew Schorr: I’m involved in an initiative called Precision Medicine for Me, and it started in lung cancer but it is about this testing to see is there either existing therapies or investigation ones that line up. Or F dot now and as you know one of the major cancer medical societies called ASCO, American Society of Clinical Oncology.

The whole mission of the new president, a guy named Bruce Johnson from Dana Farber in Boston, a lung cancer specialist, is that these precision medicine approaches of each patient and their doctor knowing what are they dealing with at the molecular level to push that out throughout oncology; certainly in the U.S. if not worldwide. So I think we’re all in this together. Marsha, you’ve been listening patiently.

Now you’ve had this transition from ET many years, which Stephen was talking about we know often a very good prognosis. But then it changed, and a little scarier. I’ve already started that point, myelofibrosis. But when you hear this, how do you feel, just listening?

Marsha: I think when I was first diagnosed I was scared to death. But I think through education, I’ve learned to calm down and I just try to tell myself that this isn’t a sprint in my case, hopefully it’s going to be a marathon.

And until then, I’m just going to learn what I can do to help myself. I’m very curious about additional mutations; however my doctor said that really would not affect the treatment I would be currently undergoing. And the big thing, insurance, has come about. He’s very concerned about whether or not insurance would cover the cost and the value of it.

Andrew Schorr: Right. Stephen, is this – it sounds like maybe we’re making progress with insurance companies; that they want us to get a clearer picture with our doctor? What’s your take on that now?

Dr. Stephen Oh: The driver mutations, the JAK2, MPL< calreticulin testing, I think it should be and almost always is covered by insurance.

But when you get into the more extensive genetic testing, that’s where the insurance companies will often balk at covering it. Then it becomes somewhat problematic as to is this really worthwhile. Obviously that the costs for it and for any particular patient can vary in terms of what insurance will cover, what the copay is, and what they can reasonably afford. In general, while I do believe that there’s much utility to this kind of testing these days, if the cost is prohibitive I do not push it and I certainly do not think it’s mandatory.

Andrew Schorr: Dr. Moliterno, and I’ll mention to our audience we have a few more minutes; if you have a question and we haven’t covered it, please send in your question to MPN@patientpower.info, MPN@patientpower.info.

Dr. Moliterno, so we have the JAK inhibitor now, ruxolitinib. There are others that are being tested in various trials. As you look not just at the genes but at the treatments, are you fairly encouraged there that you will have a broader array to line up with people’s different situations, and also what the side effects of treatment, if somebody gets anemic or whatever their profile is?

Dr. Alison Moliterno: Yes, I am very optimistic. I think many of us, again if you look back at where we were five years ago in terms of the options that we have and where we assume we’re going to be in five years, hence I think there’s lots of room for application of these therapies, for combination therapies to use therapies together, even the ones that we have. So I’m very optimistic.

And I think I would say it is very anxiety-provoking to hear you need molecular profiling, and yet your doctor is saying we don’t really need that, or we’re concerned about the cost, which is certainly a concern. One thing I always say is that’s fine; the molecular profiling isn’t going to go away as an option, and the cost will come down in the next few years. We are now able to do things that we couldn’t even imagine we could do clinically in terms of looking at all aspects of genes, and this cost will come down.

So I would say to, for instance Marsha, yes we may not need it today but we can always get it in two years when things are different in terms of the availability of it and the interpretation of it. So again, I think it is reasonable to say your treatment is this, you’re responding well; happily we don’t need this at the moment.

I would agree with that, but I’m also certain that in three or four years, we won’t be having this discussion so much about the cost of this testing.

Andrew Schorr: Dr. Oh, here’s a question we got in. you’ve got to decipher this one for us. We have some really smart people out there, like PhDs. Is a germ line ASXL1 mutation a high risk or detrimental factor in the same way as a somatic mutation? So what’s germ line, what’s somatic, and is this germline ASLX1 mutation bad news, basically?

Dr. Stephen Oh: That’s a great question, and I think it also connects to a broader question. But to first answer you, talking about our acquired mutations which is the same thing as somatics; somatic means acquired.

If you’re talking about a germline mutation, in this case ASX01, it’s not the same thing as an acquired or somatic ASX01 mutation, which is what we’re generally referring to when we talk about that gene and its affect on prognosis. That also connects to the more broader point which is that the devil’s in the details.

Whether it’s ASX01 or another gene, the exact mutation may matter a lot in terms of what the significance you attribute to that. In many of the labs that do this type of testing, they will have a column for each mutation where they’ll make a call as to what they think it’s significance is, and they’ll say yes, pathogenic or it will say no pathogenic, or it will say uncertain. Part of that interpretation depends on whether it’s the germline or somatic AKA acquired mutation.

Oftentimes they can’t say for sure because the only way to determine that conclusively is to test tissue that’s not from the MPN. So, sometimes it’s uncertain as to even whether it is germline or somatic/acquired. So again, just to be clear on this particular question; if it’s thought to be a germline ASX01 mutation, it’s unlikely to be relevant or have a prognostic impact on that particular patient.

Andrew Schorr: So Dr. Moliterno, the other question you must get from people is do I have to worry about a family member? Because when they start talking about genes, you’re talking about what your hair color is, or hairline as I was joking with Stephen, or whatever characteristics herein are hereditary.

But then we’d say gee, is there a hereditary factor to an MPN?

Dr. Alison Moliterno: That is a very important question, and long before the JAK2 discovery, we realized that about 10 percent of individuals with an MPN will have a first or second degree relative with either an MPN or another cancer. So there does seem to be heritable factors at play here. Some of the interesting – and again, it’s not because you inherited – in your individual case you inherited the JAK2 mutation from the germline directly from Mom, but you inherited a risk of acquiring it.

We’re trying to understand that and again, what does it relate to; does it relate to germline variation in genes that allow this to occur, that allow you to get mutations in blood stem cells or in other tissues?

So yes, we are still working on that. It does seem to be a component of that. And that’s not unlike CLL, chronic lymphocytic leukemia also has sort of a familial –

Andrew Schorr: And I have that, too. I’ve got them both. I understand. So I think about that all the time. Marsha, you have children, don’t you?

Marsha: Yes, I have two children. But I think even more importantly, I have a cousin who has CML and another cousin who had stem cell transplant for AML. So I think that’s interesting.

Andrew Schorr: This is all in the hematology world, so Dr. Moliterno, do we have, Marcia or me, with two blood cancers? And I have three kids; what about this and is there a testing they should have, or how do we go forward?

Marsha: We don’t have – I would to recommend that they need a JAK2 test or specific MPN testing. If they have normal blood counts and they’re well, they don’t need to be evaluated for disease at the moment. The question is are there family genes that need to be elucidated, and if you have a lot of cancer in the family, so for instance families that have a lot of breast cancer, we often will send them for genetic counseling to understand what their particular risk is. And in breast cancer and some other cancers, we do understand some genes to test that can give us that information; familial genes. So far in the MPN, we don’t really have the knowledge of which genes are at play. 

Andrew Schorr: Dr. Oh, any comment on that because I’m sure you get the same questions. People say oh, my God, should I worry about family members?

Dr. Stephen Oh: Absolutely. It comes up pretty routinely and just to echo Dr. Moliterno, I generally do not recommend any special screening for family members, of those who have an MPN. I would also point out that even if there is, certainly it’s established that there is a slight increased risk for family members of patients with an MPN. Even if the risk was, let’s say, four fold higher for a first degree relative, the overall risk of developing MPN is so low that that overall risk for a family member is so unlikely that they’re going to develop an MPN.

Andrew Schorr:  Really? That gives some comfort; maybe you too, Marsha.

Marsha: Certainly.

Andrew Schorr: We’ve covered a lot of ground over the last hour, and I think on a very important topic now as mirroring the progress related to some treatments either approved or developing is, understanding our slice of an MPN, and the working with you on monitoring that and how does that relate to care. We have two noted experts with us who are helping propel this forward. So we’re your partners in helping that. Dr. Stephen Oh from Washington University and the Siteman Cancer Center, thanks for being with us once again and giving us of your time; I really appreciate it.

Dr. Stephen Oh: My pleasure.

Andrew Schorr: Okay, and Dr. Alison Moliterno, being back with us again from Johns Hopkins in Baltimore; thank you. Thanks for both of you; your very clear explanations, and Marsha Krone, we learned a lot, didn’t we Marsha?

Marsha: We sure did.

Andrew Schorr: Okay. Marsha’s my partner here; she’s done it twice and we’ll have you back sometime, Marsha.

Also, we should tell you Marsha is a very active preschool teacher so she has these little rug rats running around all the time, and thank God you have the energy to do that and I’m really glad you do, Marsha.

Marsha: Me, too.

Andrew Schorr: All the best to you. Well, this has been a wonderful program. We want to thank the Patient Empowerment Network for leading the way in this series, and Incyte Corporation for its support of this educational activity, and Patient Power our wonderful team Alan and Jamie who make it happen behind the scenes. We’ll be having more throughout the y ear. We welcome your questions; always send them to MPN@PatientPower.info.

And all of us moving forward living with an MPN, we’re going to live well and we have wonderful physician partners to help us do that as they understand the genetics and all those people working with them to develop therapies to help us live a long and strong life. Thanks for being with us in Carlsbad, California near San Diego.

I’m Andrew Schorr. Remember, knowledge can be the best medicine of all.

Reflections From an Advocate: ASCO 2017

Every year the American Society of Clinical Oncology (ASCO) brings together nearly 40,000 oncology professionals from around the world to discuss new treatments and innovations that will, hopefully someday soon, improve care for the more than 15 million Americans currently battling cancer.1

In recent years, advances in immunotherapy, precision medicine and insightful use of “big data” have dominated discussions. This year was no exception, but there was also something tangibly different that permeated the conference. Most meetings I attended and conversations I had focused on the urgent need to increase participation in clinical trials.

As patient advocates, many of us patients and care partners ourselves, we know that participation in clinical trials is absolutely necessary for innovation. Nearly every advance in cancer care available today was first evaluated in a clinical trial. But even as we know this to be true, the fact remains that only 3% to 6% percent of cancer patients who are eligible for clinical trials participate.2

Reasons why so few patients participate in trials are well documented. Fear of receiving a placebo, concern over side effects, perception of being a “guinea pig”, and other fears are quite often so deeply engrained that they can be difficult to overcome. In addition to those fears, patients face the uncertainty of out-of-pocket costs and inconvenient travel to trial locations among other practical concerns.

So, what can we as advocates do to make a difference?

  • Be part of the solution. We need to recognize that each of us has a critical role to play in dispelling widely held misconceptions about clinical trials. With the help of Astellas and other like-minded sponsors, my organization, Patient Empowerment Network, launched a new program this year called Clinical Trial MythBusters to help build a basic understanding of trials and debunk common myths.
  • Education is the answer. We need to work together to enhance basic science and health literacy to enable shared decision-making that includes clinical trials as a potential solution. The Cancer Support Community created tools that every patient should have access to: Open to Options and Let’s Talk Treatment Options.
  • Provide assistance. Organizations like Lazarex Cancer Foundation and Family Reach provide patient access to clinical trials and a financial lifeline for cancer patients and their families.
  • Encourage minority participation. Diversity in clinical trials is essential to help researchers improve treatments for diseases that disproportionately affect individual populations and ensure the safety and effectiveness of new therapies for everyone.
  • The sum of the whole is greater than the parts. We need to work together and be active participants in pan-advocacy initiatives, like the Coalition for Clinical Trials Awareness. Together, we really can make a difference.
  • Lastly, and perhaps most importantly, we all need to acknowledge and thank the courage it takes to participate in a trial. There was one slide amongst the thousands I saw at ASCO that gave me reason to hope. This is the first time I’ve seen patients and their families thanked for their participation in a clinical trial and I hope it isn’t the last.

References

  1. Cancer Facts & Figures 2017. American Cancer Society. Accessed June 7, 2017. Available at: https://www.cancer.org/content/dam/cancer-org/research/cancer-facts-and-statistics/annual-cancer-facts-and-figures/2017/cancer-facts-and-figures-2017.pdf
  2. Cancer Research Institute 2017. Clinical Trials. Available at: https://www.cancerresearch.org/patients/clinical-trials

The DisCONNECT OF CANCER

Editor’s Note: After a long and resilient battle with primary peritoneal cancer, Roberta Aberle, 53, of Aurora, CO passed away on November 1, 2017 with her husband David Oine at her side. Even as she battled her own cancer, Roberta was a tireless advocate for patient care, hoping to improve the lives of others also fighting life-threatening illnesses. She will be greatly missed by all who knew her.


The descriptions of first hearing “you have cancer,” all follow a common thread – shock, denial, surreal, as are the emotions and reactions to the news – disbelief, despair, fear. However, I suspect few people ask themselves in those initial stages of grasping the news, “I wonder how many people I care about will disappear from my life as I fight cancer?”

But it happens. I hear it over and over, with dizzying similarity. I was one who never even contemplated the idea any of my loved ones would not be there to through my cancer experience. But it happened to me immediately, gradually and then again abruptly, long after I was down the road of treatment.

And I never saw any of it coming.

At first, there were the expected disappearances. Colleagues, neighbors and distant friends, upon hearing the news either would at first react with sympathy, then the avoidance began. A random colleague would pile up his papers and laptop before the meeting ended and be up and out the door with barely a nod to me. I’d be out walking my dogs and see a neighbor coming around the corner – not realizing I’d seen them – turn to walk the other direction. The e-mail update and invitation to follow my fight on MyLifeline.org site went unacknowledged by more than a handful of long term friends. One couple I had introduced to each other and later married, I’ve not seen or heard from during this 5+ year odyssey. Another couple my husband and I went out with rather regularly at first were adamant they would be all over me helping. I heard from them daily the first week, the last call being to find out what type of soup I preferred. The soup never came. Nor did they, ever again.

Both are still receiving my emails and updates, they never come back undeliverable, I see their updates on social media, so I’m confident they are alive and well. For whatever reason, they’ve chosen not to be a part of my path.

At first it hurt terribly, then I did my best to employ all the psychological and human behavior knowledge I’d gleaned throughout my life.. It was easier to understand once I divorced myself from the hurt and focused on what defense mechanisms those absent friends were using.

Most people don’t know what to say or how to say it. So they avoid the topic entirely. And in the case of cancer, where it’s next to impossible to avoid the topic because it can be all consuming; avoidance of me, as well as the topic seemed to be the natural conclusion.

Even with that understanding of the likelihood absence was their defense, it doesn’t change how much I  miss them, I miss knowing about their lives. I miss their energy and spirit. I miss their friendship.

There are the people who show up in the grand way which helps you cope with those who can’t show up. The support system that come over, pick up the phone to reach out, send cards, books and other resources. Asking for ways they can offer help. Wow. Mind boggling how some people will come out of the woodwork.  And how fortunate we are for those who do.

Then there are the very sad stories of cancer totally wrecking you to your core. Those, for me, were the ones that came quite abruptly later. But in my travels and exposure to cancer patients near and far, I’ve heard about spouses serving divorce papers, children who lash out and misbehave, parents who aren’t present at chemo sessions or surgeries, friends who drop you from social gatherings. The entire gamut. How do you explain these crucial relationships that come crashing down?

Over my 5+ year battle, even a handful of those who stepped up in the most generous and productive ways eventually disappeared too. I barely have had the stamina for this duration of time, how could I ask anyone else to? But there are equally just as many who were there are Day 1 and are still here on what is around Day 1,991. For all of them, I’m eternally grateful. They have carried me through.

But back to those significant relationships that collapse, what logic explains those? Not being an expert in the field of human psychology, I can only comment based on my own personal circumstances

For me, it was two nearly life long friends who left my side with extreme abruptness and even more extreme callousness. Amid harsh words both of them, who did not know each other, accused me of using my cancer as an excuse to be horrible and nasty to people. Furthermore that they only stayed friends with me due to feeling sorry for me having cancer. Wow. One went so far to say how sad it was I needed help with my laundry and who really did I know who would want to launder my dirty underwear? True and unfathomable.

My personal interjection here is: where is the compassion and where is the sensitivity? I have a terminal diagnosis, even if I were a bad person to be around during my cancer, wouldn’t a true friend help you identify and seek out ways to help you cope differently? What motivation and impure intent has to be behind hurtful and hateful words that are spewed knowing the dire circumstances of a person they claim to love and care for? Would you say such things to a person with life threatening heart disease, addiction or diabetes? How does going for the jugular help the person in a medical crisis? How does deserting them help power them through healing to a cure?

Those are the questions to ask yourself when you seek to recover from the abandonment of anyone significant while you are struggling with cancer. What would a reasonable person do in the same situation? How would they help you cope and manage? Would they put hurtful, hateful adjectives around you and blame you for your plight?

No.

Is it possible they had to create conflict with you to push you away because they couldn’t bear to see you suffer?  Or because they couldn’t fix it? Or because they were sheerly self-referential, unable to cope with mortality, yours or their own and just wanted to be free of the confines cancer can bring?

In other words, odds are, it’s not you, it IS them. I wish I could wave a magic wand and tell every person who has leaned on my shoulder, who has confided to me in tears about who has left or worse, their words, who has “rejected” them since their diagnosis. Every story of this nature, pierces my heart again as if it were happening to me all over again.

All I can do is suggest that as painful and prickling as it is, hold your head high. You did nothing to deserve being abandoned nor did you cause your own cancer. If a significant person in your life cannot walk through the fiery coals with you and carry you if needed, you do not need them there with you. It is not an easy lesson, and trust me, I replay it over and over as to what I did wrong and should’ve done differently; all the while knowing the outcome would likely be the same. They may have left anyway.

There are thousands of quotes and adages about allowing another person to leave when they want to leave. For whatever reason. The true and pure individuals will return. They may or may not have answers for you as to what or why they were driven to desert you. This would be the happiest conclusion, the true meaning of closure.

The best way to view this situation when and I hope, only IF it happens to you; you sweep all the negativity and the pain of it aside. Allow yourself to immerse yourself in those who can be present, who do show up, otherwise you’d be preoccupied with hurt to invest in the people who can put aside their own needs, who can sacrifice their own potential for hurt and loss to be there without reservation, without stipulations and without complaint.

Then the decision belongs to you, whether you welcome them back into your life or not. I’ve asked myself, if ever had the chance to reconcile with the immediate, the gradual or the abrupt departures could I or would I? It remains to be seen as it hasn’t happened yet. All I can predict is that, for me, and this is only me, it would be hard to edit out this huge segment of my life and resume a friendship the way it was. It doesn’t mean it can’t be a different relationship, but it also doesn’t mean it could never be resurrected. But I don’t have to worry about that right now. If it ever does happen in my lifetime, I will be sure to let you know what I choose to do.