Do I, or Don’t I?

Pic of the day - What Being Gluten-free Means to Me

Today I was invited out for a business lunch. I had brought my own lunch, but I tucked it in the fridge. I ate a couple small snacks, hoping to not be hungry when I got there. I wanted to be hungry enough to eat something small, but wanted to avoid eating “real food”.

I’m pretty careful about going out to eat because I’ve been trying to go gluten free. I’ve been sick for years, actually decades, finetuning my diet trying to find out what would make me not feel sick. It’s a long story, which I’ll try to shorten here, but it started with my going vegetarian as a teen, gradually adding in eggs & milk; then chicken & fish; then flipping and going pseudo-paleo almost; then … well, you get the idea.

Last year I started eating a lot of quinoa. One of the issues I’ve had off and on throughout all this is chronic skin problems centering on my face. I’ve been getting medical treatment for the skin for around a dozen years now. When it’s bad, little kids ask their mom, “what’s wrong with that lady?” I try very hard to not let it get that bad. Quinoa was helping, and so I started eating it at least once a day. This meant I was eating a lot less bread and noodles and rice.

After a couple months, I didn’t just feel better, I felt FANTASTIC. I felt 20 years younger. I had energy leaking out of my pores. I was bouncing everywhere I went. My skin was better, not perfect, but better. Two medical professionals I know on Twitter and one public health faculty member all said the same thing, “You know, you sound like our patients who’ve gone gluten free.”

The question then became was it gluten intolerance or celiac. My mom was diagnosed as celiac around 15 years ago with a skin biopsy for the skin problems she was having, but after a couple years she decided not to stay on the diet. I had almost forgotten it happened. My doctor agreed to my doing a gluten trial for two weeks before the blood test. Frankly, I don’t know which blood test, but I really ought to find out. I was profoundly ill and miserable for the two week trial. My skin felt like it dissolved. I was covered with bloody sores and scabs; constantly parched with thirst; my skin swollen; my cheeks swollen and constantly bleeding and being bitten; my face and my feet swollen. Curiously, although the most common symptom for both gluten intolerance and celiac is intestinal upsets, I never had that as a symptom.

Anyway, the test came back negative. I didn’t care what the test said. It might not persuade my docs, but the experience persuaded me. My reaction was, “I am never going back on gluten ever again.” Evidently false negatives are fairly common with this test, especially when someone has gone gluten free for a while first. From my reading, it seems like the main differences between the two conditions for presenting symptoms are the vitamin deficiencies. Gluten intolerance doesn’t get them, and the symptoms go away as long as you aren’t exposed to the trigger, whereas celiac is all about malabsorption and deficiencies in various vitamins & minerals. My personal health history is studded with vitamin & mineral deficiencies. So, according to my medical record I have gluten intolerance. I am convinced I have celiac. But the tests don’t support my theory, and I am not willing to go back on gluten intentionally in order to have more tests.

Today at lunch, first I tried to convince the person I was meeting that we weren’t really hungry and should go somewhere else. But really, I was hungry. I felt like I was starving. The snacks hadn’t worked. So when he ordered his food, I tried to find something safe on the menu. I’ve had omelets there before without a problem, so I stuck to that. It was fine for the first half of the omelet, then I accidentally flipped it over. The underside of the omelet didn’t look like an omelet. It looked like a pancake. Oh, that is bad. So I set aside that part and didn’t eat it, hoping that I’d be OK.

Two hours later I started breaking out in hives. Then my face started to burn and swell. By the time I got home I felt awful. I laid down on the couch for a minute, and woke up some time later, fatigued and confused. OK, I’ve been glutenized. Groggy, and painful. No more omelets at Angelo’s. If I had a diagnosis of celiac disease, there is a medication the docs could give me for the skin problems that come when I’ve gotten into unexpected gluten. I can’t get it because I don’t have the diagnosis.

For the celiac testing, the usual progression is if the blood test is positive, then they do an intestinal biopsy, or a skin biopsy if the skin is the primary symptom. Rarely, some places will do the biopsy with a negative blood test if the symptoms are strong enough, but you still need to be on a gluten diet for any of these tests to work. The final court of last resort is a genetic test. The insurance really doesn’t like to cover that, and it wasn’t an option for me until I was offered the opportunity to join the PGen study.

So now, I’ve sent in the sample. When I filled in the questionnaire for the study I emphasized celiac as a condition of interest in my family genetics. A message from them said it would be included in the tests they’re running. I’m sitting here, suffering from a gluten reaction, with my face and mind both on pins and needles, wondering what the results will show. Do I have celiac? Or will the test result show another negative? I am almost dreading finding out. What if it’s negative again?

Why PGen? Why eBird? Why Share at All?

Pic of the day - Raptor

In the previous post, My “Why”, or, Flipping Healthcare & Research Upside Down, I went into this explanation of why I’m doing this. The “why” was probably too long.

Yesterday I was looking at a blog and saw an explanation from someone else who evidently gets it, gets this idea and explained it perhaps a little more simply.

Wrenaissance: Why eBird?: http://wrenaissance.com/2012/04/why-ebird/

Wrenaissance is talking about a citizen science effort to collect and gather data from birders, hobbyists who specialize in bird watching, but who don’t just look at the birds but also keep some data about what they see, where, when, all that. Wren points out that this is a lot of work, and that what you need to satisfy your own personal wants in this area might be very different from what is collected for science initiatives, even citizen science. It’s work. Why would you want to do this, when it means more work?

Then Wren points out a New York Times article in which they noted that without the “yardstick” of data from earlier people who kept their logs and shared their data (ie. Thoreau?) we wouldn’t realize now how much things have changed. For herself, Wren puts it this way:

“I’m honored that eBird wants my data. In addition to not being a poet or essayist, I’m neither scientist nor expert birder. The memory of what I’ve seen and loved in the natural world would vanish without a trace. However, even if I can’t preserve the poetry, I can do this small thing to preserve the world.”

For me, participating in PGen is not so much about preserving the past and present as paving a path to a more personalized and responsive future in healthcare. But really, citizen science, all of it, is many people who are not poets or essayists or scientists or experts saying, “I can do this small thing to help.”

My “Why”, or, Flipping Healthcare & Research Upside Down

Today someone posted a question about this study in the Patients Like Me forums. They wondered if other folk were doing this, and what they thought about it. This was my reply.

Found Words: Question Marks

Hi! I’m participating, and I’m blogging it. I’m both excited and nervous. What do I think about it? I think it is super important. I’m a medical librarian, and this (personalized genomics) is a topic that has come up quite a bit recently. The more I learn about it, the more important I think it is. At the same time, our culture hasn’t exactly caught up with the ideas behind what makes it important. Because I’m blogging it and plan to make as much of the information public as possible, I’m talking with my family. I don’t want to upset them about my making personal genomic info public. Luckily, so far, they get it (but I still haven’t talked with everyone yet).

You see, my family has a boatload of chronic conditions that have genetic associations. We also tend to be outliers when it comes to regular treatments. We have bizarre and unpredictable reactions to medications, ranging from unheard of side effects to completely ineffective to super effective (and supersensitive, too). We tend to be extremely hard to diagnose, and often present with atypical symptoms. Sounds like a mess, doesn’t it?

The modern model of healthcare is ill-suited to patients like me and my family. It focuses on the mean, people whose presentation, symptoms, and response to treatments fit nicely under the standard distribution bell curve, all clustered around the center. Science and healthcare are shifting, though, and a good thing, too! The new direction is personalization — customized, personalized treatments designed to work for YOU and no one else.

I describe it to my family like this. Right now, you get sick, and the doctor gives you a prescription. You fill this at the pharmacy, and get the same medicine that anyone else would get. The same pills, shaped the same, colored the same, tasting the same, formulated the same. Why? Because that is what works for most people, and because there are economies of scale in bulk production. God help you if you have a rare condition or don’t respond well to the normal treatment. There is no monetary incentive to develop treatments for the folk who are off at the fringe, instead of “normal”; there are no “economies of scale.”

With personalized healthcare, the hope is that instead of a common generic prescription, you’ll get a treatment that is customized for you. Ideally this will eventually mean customized based on your genetics, your past experiences, where you grew up, events that impacted the community around you, your personal history, recent events, and more. When you’ve spent a lot of time in a healthcare system that doesn’t do well with “rare” or “outlier”, the idea of a healthcare system focused on personalization and customization becomes very appealing.

But we aren’t there yet. We still need to get there. I watched a lot of the recent TEDMED presentations. One of the main ideas I took away is that to get the model of healthcare flipped from bell-curve to custom, from factory-style care to clinician-patient partnerships, there are a few things that need to happen. A big one is that research on which healthcare decisionmaking is based also needs to flip. Research needs to change from the traditional model of “hypothesis generation, data generation/collection, analysis, repeat” to something we don’t have yet, starting with LOTS of data from LOTS of people (“big data”) as the first step, and then this is followed by new ways of looking at and analyzing data, and new ways of collaboratively discovering important patterns that lead to important questions. Flip. Turning it backwards.

Before any of this can happen, the researchers and scientists need to start with that “big data” I mentioned. To get the data, they need people like us, lots of people like us, to share our data. If people are afraid to share their data, then it is business as usual, “the way things have always been.” If we want it to change, then someone, a few someones, need to go first, need to take the risk, need to show others it’s ok. “Come on in, the water’s fine!”

I don’t expect other people to be blogging about this, but for me, I felt it was important. I work in healthcare, health literacy, emerging technologies … it’s a fit. Not to mention that I work in a unit that supports one of the research teams on this study, so my participation actually supports my job and my community. So that’s for me. I am really hoping that others will also participate. Right now, this is a pretty basic introductory study — who is willing to do personal genomics, why, and what do they do with the info. I’m being an outlier again, by broadcasting the whole experience. They’ll need to hear from the rest of you to get a more balanced picture.

If you aren’t sure about what all this is or does, you might want to take a look at WeConsent.Us which is a website designed to provide a clear, plain language overview of the risks and benefits of personal genomics.

Sending the Sample

Pic of the Day - PGen

I had heard that it takes a long time to come up with enough spit to fill the sample tube for the genetic test, so I waited until the weekend. I also was worried about the requirement to have not eaten, drunk, brushed teeth, yada yada for 60 minutes beforehand, so I did it first thing in the morning.

Well, perhaps the person who had trouble filling the tunbe was dehydrated. Took me almost no time at all. The biggest problem was getting it shipped off. I had skimmed the instructions a couple days ago. This morning while I was doing this, I read each step carefully as I did it. Got to the end.

Oops! Now where did I get the silly idea that I could drop it in the corner mailbox? FedEx it is, of course. I don’t have a car, and the buses barely run at all on the weekends, so this is a problem for me. I ended up phoning three different people trying to find a ride to a FedEx store so I could ship it.

The friend who gave me a ride is a lawyer. We had a very interesting conversation during the ride. She has genuine significant concerns about the idea of personalized genomics, much less participating in a research study about it, or (God forbid) blogging it!

I took notes. I promised her I wouldn’t use her name when I blogged this. 😉 The list goes like this:
– Ethics
– Religion
– Uses of the information
– Education of scientists & clinical researchers
– Privacy
– Responsibility
– Supporting policy change

I want to come back to this in more detail later, but the most significant and unifying concern she expressed seemed to be that scientists, researchers and clinicians seem to have a poverty in their training related to professional and biomedical ethics, especially in disrespecting the religious and spiritual beliefs of their patients and research participants.

Then, not a couple hours after this conversation, Charlotte Flynn pinged me on Twitter with a question:
– Do you know if anyone is building patient personal preferences (e.g. values/beliefs) into EHRs?

I sense a theme here. A very important theme.

PGen Package

I was so excited when the package came! I had to take a picture to prove it. Sadly, it came last week while I was teaching many hours of presentations, and there wasn’t time. I made sure this morning to put it where I would see it, and tonight I opened it and started reading the instructions. Somehow, I don’t think I’ll be able to generate enough time to generate enough spit for the test until this weekend. In the meantime I should start telling the stories of why I’m doing this and how I got here.

What is a PGen Participant?

Phantom

Well, I am, but I’m only one of many. How many? A thousand. Nice round number isn’t it? I’ll probably find out more when they publish the results. So, that’s a clue, of sorts. PGen is a research study being conducted on personalized genomics. It is a collaboration of the University of Michigan (where I work), with Harvard, Brigham and Women’s Hospital, PatientsLikeMe, with the genomic part being handled by Pathway Genomics and 23andMe, sort of evenly divided between the two.

Pathway Genomics Teams with Harvard Medical School and University of Michigan for NHGRI-Funded Genomic Testing Study: http://blog.pathway.com/press-pgen/

I’m both excited and nervous about this, and feel strongly committed to the importance of supporting this kind of research. I’m going to try to blog experiences as this progresses, and will do other posts that talk about why, how, etc. This is just the intro.

My name is Patricia Anderson. I am the Emerging Technologies Librarian at the University of Michigan. I am a single mom of a kid on the autism spectrum. He’s awfully darn proud of who he is, and likes himself just fine the way he is. We have a boatload of various conditions that “run in the family.” I’ve thought for decades that it would be interesting to study my family’s genetics. I don’t know what personalized genomics has to tell me about my family and my kids, but I’m hoping to find out.