Q:How expensive are your medications?
Without insurance, Kineret alone would be ~$3,000 for a 28 day supply. With insurance, it comes to about $400 for a 28 day supply—this may change (hopefully for the better?) as my insurance just changed.
Combine with the cost of five other medications plus supplements and supplies…needless to say, it’s a tough pill to swallow (pun intended) and a source of constant stress.
A Special Birthday, A Special Gift: Rare Disease Day
I was born on leap year. February 29th, 1992.
And for the past four years, I’ve hated and dreaded my birthday. For one reason or another, there were tears shed each year on my birthday. Whether it was due to pain or not-so-awesome people I used to call friends, birthdays kind of sucked. Honestly, I’ve been dreading today for a few weeks now.
And yet, my birthday is a special day, and not just because it only comes every four years. It is Rare Disease Day (which falls on the 28th when it’s not a leap year)—a day close to my heart. Friends and family laugh about me having three rare diseases, being born on leap year, and being a rare disease advocate a “cosmic joke.” At this point I suppose I’m inclined to agree :)
Having three rare diseases, having no rare-disease literate doctor, and having so few treatment options defines all aspects of my life. It defines what I do with my day—including my birthday—and this year I wanted to stop the string of depressing birthdays I’ve had for the past few years and do something meaningful for Rare Disease Day instead.
Only, someone else did that before I even had a chance. A fellow Stanford ePatient, a IBD/Crohn’s Disease advocate, and rare disease advocate, Carly Medosch, surprised me this week by representing me at Rare Disease Day at our capitol. It was a complete surprise.
Carly printed out my recent blog post regarding Rare Disease Day and took printouts with her to the capitol, where she has handed them out and shared my story with state representatives and other legislative aides.
And then, this: Carly and MedX ePatient advisor/blogger AfternoonNapper
And then, this: a lovely woman from Florida who has agreed to share my blog/blog post with her congress people (!!!!).
And THEN, this:
This is Jonny Lee Miller. He plays on Sherlock Holmes on CBS’s Elementary (shoutout to him also being in Trainspotting, I’m a fan), and he also runs a NPO for a rare disease. He spoke on a panel today for Rare Disease Day, advocating for others, and was kind enough to wish me a happy birthday and read my blog(!).
Little did he know, that the prosthetic leg he used as a prop in this season’s episode two was my grandmother’s prosthetic leg. CBS purchased the leg from my family this past fall. Life is really freaking unbelievable that way, isn’t it? My grandmother would be so proud that her prosthetic leg ended up in the hands of a rare disease advocate who works alongside me and spoke on behalf of me and many other rare disease patients. She would be so proud.
The kindness of my MedX family, my friends, my new LSH family, has just been completely overwhelming. Driving home tonight, all I could think about is how painful this month has been physically, and yet, it was full of nothing but positive news, new opportunities, and new people.
Thank you Carly, Sarah, Jonny Lee Miller, Global Genes, and the rest of you for making this week and this birthday one I will hold near and dear to my heart. I can’t tell you how much it—and you—mean to me.
Tomorrow I will still be handing out 100 Global Genes rare disease awareness ribbons as planned, only now with less anxiety and sadness re: my birthday and an unbelievable amount of gratitude and love instead.
Please follow Carly, Sarah, and the #wrdd14 hashtag on Twitter to keep up with this week’s Rare Disease Day events, and don’t forget to take a picture raising/joining your hands to show that you care about rare. I will be posting mine later today :)
Thank you for making this day and this week so special. I’ve never felt more like I belong and more loved in my whole life. I am sitting here writing this with tears—happy tears!—and I mean it. This community on tumblr, twitter, in person, online—you all mean so much to me. Every person that reads this blog has made this journey possible. And I love you all for it, I really do.
One in Billions: Rare Disease Day 2014
Two years, three rare diseases, all interconnected. To put what I have lived through into a few paragraphs is next to impossible. There are constant holes in my stories; gaps of time filled with complex details of symptoms and experiences too complicated to cram into a single post. The patient story is hardly a linear one. With symptoms cycling in and out for years, we are constantly going back in time, back into our stories, back into our medical files only to find new diagnoses, new patterns. Very little about being diagnosed or living with a rare disease (let alone three) is straightforward.
I was diagnosed in January 2012. New year, new diagnosis. I had a long list of genetic tests performed and was told I’d hear back in 6 weeks time. It was not a good experience at this particularly notable hospital—a hospital and program that specializes in medical mysteries. It took nearly 4 months to even get someone to agree to release my test results back to me. I received a letter of apology in the mail containing the name of my mutation, the scientific-details of that mutation, and a paragraph saying that the world-renowned clinic hadn’t seen this before, but they wished me well.
I didn’t learn about TRAPS through a physician. There was no physician to meet with, no specialist to see. My rheumatologist stared at me—deer in headlights stare—as I read the letter: autosomal dominant autoinflammatory disorder, periodic fever syndrome otherwise unspecified. Likely a newly documented mutation for a disease called TRAPS (or a new syndrome very similar): Tumor Necrosis Factor Associated Periodic Syndrome. Taking the genetic report from my hands, her and I pondered the findings together. “Interleukin 1,” she said, “we will try an anti-IL 1 drug, Kineret. This is your best shot.”
Rheumatology referred me to immunology. At the end of the consultation, the immunologist looked at me and said, "I’m sorry, but what is it you were hoping to gain, exactly, from an immunology consult?" I was told that yes, it’s clinically significant. Yes, to consider stem cell transplantation as an option when I inevitably run out of the three medication options for this type of disease. But this..this was beyond his scope of expertise. Good luck.
So I went home. To read, research, teach myself fundamentals of genetics and immunology (which I am sill learning) alongside the biology I was already studying in school. All while going without medication. Systemic arthritis without medication is a recipe for guaranteed disaster and possible permanent damage—even death in the most severe cases.
For another six months, I struggled with my insurance company, my physicians, my low socioeconomic standing, fighting for a medication that was my “best shot” at quality of life. My best shot at life—unattainable because of exorbitant cost. One rheumatologist described to me that treatment options for many rare disease patients sit, waiting, behind an “unbreakable glass wall.” Patients suffer for years—many die—because they cannot afford the few treatment options available. With just enough income to keep me at the poverty line, I was unable to receive full funding assistance. I fought for that medication the way I fought to get out of bed. I fought to find resources, help, anything, anyone, while I also fought to brush my teeth every morning. I found myself constantly internally screaming, why does no one fight for me or with me?
My journey into advocacy had long been underway by 2012, but this time I was rocket launched into a new level of participatory medicine. The choice was crystal clear: learn everything you can and survive, or remain isolated and wither away. I got online. There was not a single active patient blog for any of the rare diseases suggested to me, nor a single organization. The internet—an abundant world of patients, providers, and organizations when I was diagnosed with Still’s Disease in 2011—suddenly became a wasteland.
I spent so many nights laying out on FSU’s College of Medicine green, staring at the stars, wondering if there was someone else out there living this same experience. Was I really the only one in billions? Would I die of amyloidosis? Would I spend my 30’s in a wheelchair? I started tagging my own blog posts with tags like “traps” and “autoinflammatory” in hopes that maybe, just maybe, someone down the line might find me—that we would find each other.
Here we are, two years later almost to the exact day, and someone has found me. Even with a disease documented less than 200 times worldwide, I am not alone.
We are rare in type, in clinical presentation, but we are not rare in prevalence. We fight for even a shred of advocacy and awareness, and we fight desperately for research in hopes of creating new treatments. We fight to shatter the glass walls that keep many of the already few treatments out of reach.
We are desperate for physicians who have not only the knowledge, but the humility and empathy to form a partnership with the complicated rare disease patient.
I still lack a rare disease-literate doctor. I still struggle to pay thousands of dollars for a medication that will inevitably stop working (and has already lost its efficacy slowly). I put off appointments because of travel expenses, time, and energy. Caring for myself each day and learning how to live again is in and of itself as intense a battle as coordinating and navigating some kind of professional medical support system. I will run out of options, resources, but never hope. In a system that drowns out the patient voice, I refuse to be silenced.
If you care about me, you care about rare. Speak up. Join the fight. Fix the system. Get involved, engaged, empowered. My disease my be rare, but my story and experiences are not. Show your support, raise and join hands for Rare Disease Day.
PSA: Get a Flu Shot
Yep. I have the flu. Influenza A. If that wasn’t enough, that nasty virus decided to spawn a bacterial respiratory infection. Which means I’ve been off kineret for over a week and I’m a mucus-y mess.
It’s not fun. High fever, diarrhea, glands so swollen and muscle aches so bad they rival the worst rheum flares I’ve ever had. Lots of sleep and fever dreams. My eyes ache. It hurts to breathe. All of this on top of a flare which is surely being worsened by the fact that I am off my medications. PLEASE do yourself a favor and get a flu shot (if your doctor says you can). I’m lucky; I’m very sick, but I’m not hospitalized. The flu can kill.
The vaccines are not live viruses (note: the shots are not live viruses; the flu “mists” are) and while you should check with your rheumatologist/specialist beforehand, they should not be dangerous for the immunocompromised.
Get a flu shot. Avoid this mess. Fa reals. Some people say they make you flare for a day or so (I found no studies to verify this). But you know what? I’d rather flare for a day than die from the flu.
Get a flu shot. Please.
Q:Are you scared of making mid/long-term plans?
Oh jeez. Talk about a loaded question.
Scared? Yes. Apprehensive? Terrified? Anxious? Yep. Especially when my long-term plans involve making financial commitments or commitments to other people.
But I’m getting to the point where I’m learning not to let my fears and anxieties related to my diseases hold me back. I’ve slowly started taking bigger steps outside of the box that these diseases and chronic pain have put me in. Every step is a little easier to take. And sometimes the steps aren’t easier. Sometimes I just take them anyway. Going into medicine is one of those long-term plans that has me petrified. Here I am, taking the steps anyway.
It took me running myself into the ground socially, emotionally, mentally, and physically to realize that even if I sign on for some serious commitment (e.g., grad school) and have to bail—it will not be the end of the world. I have faith in myself that I’ll find my way, even if it’s the hardest thing I have to do. Even if I’m homeless or hospitalized. I’m learning how to have that faith in myself and my ability to persevere. That’s kind of awesome and terrifying all in the same breath.
When I think about making long term plans in the context of a progressive disease and very limited treatment options? Yeah, it terrifies me. And to be really honest, if I sit and think about whether or not I can handle grad school or marriage or whatever ginormous plans I may want to make in the next decade, I panic a little bit. I know Kineret is slowly becoming ineffective. I know there are only so many treatment options. I know they’ve recommended looking into a stem cell transplant. Those fears are all possibilities. And it’ll be what it’ll be. They’ll either happen or they won’t and they will do so regardless of any plans I make or do not make. So instead I focus my energy on the here and now. Life will pass me by—the same number of days will come and go—whether or not I make plans and live the life I want to live to the best of my abilities.
That doesn’t mean it’s easy (newsflash: it’s not easy), simple, affordable, D all of the above. But eventually you just reach a point where you have to say fuck this, I’m going to try and rebuild a new life for myself. That’s the point I’m at right now. I am doing my best to channel all of my fear into those little baby steps forward.
I hope this was coherent. It’s a long process that doesn’t ever really end; we go through this in stages. And you know what? It’s okay to be petrified to make plans in the face of a chronic disease. It’s normal. My email inbox is always open if you want to talk more.
February 28, 2014 is Rare Disease Day! That’s 36 days from now. Rare disease day is a special day for me. Not only do I have three extremely rare diseases, it’s also my birthday (I was born on leap year…always defying the odds, clearly). I’m hoping to do something special, maybe a fundraiser—but more on that later.
Caring for people living with a rare disease has many facets. Some patients have access to medicines while others have no treatment available. Some patients are fairly independent while others require intensive physical assistance and equipment…
The theme for 2014 highlights that the many different facets of rare disease care represents a universal need for patients and their families around the world. Advocating at the local and national level to improve the lives of people living with a rare disease and their families is necessary.
Check out www.rarediseaseday.org to find an event near you (or host your own) and learn how to get involved. I’ll be posting more as the date gets closer. Please reblog and tag your own rare disease communities!
Live With Lidoderm: Chronic Pain DGAF About Your Plans
It’s amusing to me that I’m going to do a live hangout in 3 hours about burn out, compassion, and self care, and I’m in so much pain that I can barely get myself up off the couch—feeling totally blue and burnt out. I was just texting one of the other panelists, and it dawned on me—I need this panel just as much as anyone else watching. Self care is a process. You have to learn and practice self care. It’s an art form. Mastery takes years—maybe even a lifetime.
I may be doing this live hangout with lidoderm on my face, seriously. Chronic illness/chronic pain doesn’t care what plans you’ve made or what appearances you have to make. You guys know that better than anyone.
I hope you’ll all watch tonight. We’ll be talking about how easy it is to get burned out when you’re a ‘professional patient’—from both a treatment standpoint and an advocacy standpoint—and why self care is critical for both patients and providers (medblr community, I’m looking at you). I’ll be sharing a little bit of my own self care story as well.
"We" being a diverse panel—from chronic pain patients to cancer patients. We’ll also have Dr. Becker Schutte, a licensed psychologist who works with chronic illness patients. This is a must-watch panel if you’re struggling with compassion fatigue, depression, anxiety, burn out, self care—you name it.
We’ll be taking questions live, so watch and send in your q’s—we’ll answer them!
The live video stream will automatically post to Stanford’s MedX Live page at 8:30 pm EST. ’See’ you all tonight :)
Stanford Medicine X Live: Self-Care and Burnout
I’ll be on Medicine X Live tomorrow at 8:30 PM EST talking with other ePatients and providers about what it was like to maintain self-care at a large medical conference. We’ll also be discussing compassion fatigue and burnout for both ePatient advocates/bloggers and providers. Tune in and follow along on twitter with our live chat using the hashtag #MedX. We will be taking live questions from twitter, so feel free to tweet us with any Q’s you might have.
Follow our tweetchat moderator, Nick Dawson @nickdawson for details, links, and to send in any questions during the chat. An easy way to follow the live chat is to use tchat.io, type in #MedX into the search bar, and watch :)
I will post the live stream link tomorrow before we go live!