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Stanford Medicine

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Chronic Disease

Letting go of my secret about Charcot-Marie-Tooth, “the biggest disease no one has heard of”

We’ve partnered with Inspire, a company that builds and manages online support communities for patients and caregivers, to launch a patient-focused series here on Scope. Once a month, patients affected by serious and often rare diseases share their unique stories; this month’s column comes from a patient advocate from Washington.

I’ve tried hundreds of different versions of my story to try to get people to understand. “I walk funny because I have Charcot-Marie-Tooth, also known as CMT. It’s named after the three doctors that discovered it: Charcot – Marie – Tooth. It’s a type of Muscular Dystrophy – but not really… It’s a genetic, progressive, neuromuscular disease that affects my legs and feet, arms and hands – and my diaphragm. It makes me tired. I’m sometimes in a lot of pain. Currently there is no treatment or cure. It’s just something I am living with.” Blah…blah…blah. I can see the person I’m talking with zoning out and I know I’m losing him. That’s hard because I’ve only just recently opened up about my CMT. I want my friends, family and the world to understand why I have struggles and limitations.

I’m 46 years old, and I was diagnosed at 13 years old. It’s been a secret I’ve kept hidden for 33 years.

The outpouring of support I received gave me the confidence and empowerment to get involved in raising awareness of the disease

CMT is by definition a rare disease, affecting fewer than 200,000 people in the U.S. Before the diagnosis, I tripped and fell a lot. When the pediatrician taped on my knee to test my reflexes, nothing happened (I always thought he just must be seeing something I didn’t see because he looked puzzled, but then moved on without commenting). I was constantly spraining my ankles and bandaging my knees from falling so much. Finally, the CMT diagnosis explained it. But it certainly didn’t do anything to help the situation other than confirm that I had a serious disease that would continue to burden my  me. I became a master of making excuses for why I couldn’t join in activities like volleyball, jogging, aerobics, hiking, walk-a-thons, and much more. Social events even upset me, and I became more isolated.

It wasn’t until my disease progressed to the point that I needed braces to help me walk that I could no longer keep my secret. While researching online for bracing options, I discovered the advocacy organization Hereditary Neuropathy Foundation. In finding the foundation, I realized I wasn’t alone: Many others felt as I did. I agreed to conduct a letter-writing campaign, letting friends and family know about the diagnosis and why I wear leg braces; doing so helped people understand why I made changes in my life in order to adapt to my CMT.

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Chronic Disease, Mental Health

The art of healing

The art of healing

painting a heart

We’ve partnered with Inspire, a company that builds and manages online support communities for patients and caregivers, to launch a patient-focused series here on Scope. Once a month, patients affected by serious and often rare diseases share their unique stories; this month’s column comes from a patient advocate from Syracuse, New York.

“There’s no cure or additional treatment as all viable options are exhausted. This is your new normal.”

My gastroenterologist was stating the obvious, yet I stared at him with incredulity. I’d had my second pancreatectomy a year prior, and it failed to control my critical and idiopathic hypoglycemia and pain. I was now receiving my nutrition via IV since repeated surgeries had reduced my ability to digest and absorb food, creating erratic swings in blood sugar necessitating constant monitoring. I was stunned that this was how things would be from now on.

I cried after that appointment as images of my life prior to getting sick flashed before my eyes. Until three years earlier, I had been working as a registered dietitian and diabetic educator, I cared for two busy teens, and I lived a life rife with joyful spontaneity. After a few week of impenetrable sadness I raged at God for condemning me to this life of constant pain and uncertainty. Why me? How could I be so sick when I lived such a healthy and active lifestyle? I knew I needed help to cope with this transition. Chronic illness was a dark and unfamiliar place. At 50, my life as I knew it was over.

I had always been a bibliophile, and I used audio books when I was too ill to read. Music was inspiring and while I had countless songs on my iPod it didn’t fill my days. My counselor gently encouraged me to try something new, so I decided to visit my local art store and see if there was anything of interest. I’d taken classes over the years but didn’t consider myself an artist, so I walked through the door with trepidation. But I was immediately welcomed by a knowledgeable artist who took me in hand. We walked down the aisles and she spoke with ardent enthusiasm about the different mediums available to me. When I saw the rainbow of acrylic paints I made my decision: I was going to paint.

Immediately following my purchase, I had buyer’s remorse. What did I know about painting? I had been encouraged to pursue excellence, and this was akin to jumping off the proverbial cliff. It took two weeks before I prepared my first canvas and put brush to paper. And what transpired next surprised me.

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Cancer

How I've survived survivor’s guilt

How I've survived survivor’s guilt

We’ve partnered with Inspire, a company that builds and manages online support communities for patients and caregivers, to launch a patient-focused series here on Scope. Once a month, patients affected by serious and often rare diseases share their unique stories; this month’s column comes from Hope Aguilar.

When I was in my second month of treatment for late-stage ovarian cancer I read a friend’s post on Facebook about her friend passing away from cancer after just six weeks of being diagnosed. I was so sad about this news and about the fact that I had made it past six weeks and she hadn’t. Then when I was a few months out from finishing chemotherapy and back to teaching in Saudi Arabia, I found out that the woman who helped me when I was just starting treatment had passed from her five-year battle with ovarian cancer. I was again saddened, but even more so than before. This woman was just fifty years old and had a husband and children – she had so much life ahead of her. And that’s when survivor’s guilt first truly hit me.

I didn’t know that “survivor’s guilt” was the name of what I was feeling. I just knew that a part of me was torn. Torn between being so very grateful that I had made it (even though it hadn’t been very long) and anguished over knowing that I still here and this woman wasn’t. I did my best to not let the guilt bring me down too much: I kept moving forward, living each day to the fullest, and staying positive through all the post-chemotherapy problems I had. But every once in awhile I would get that feeling of sorrow from the guilt that I survived and that so many others didn’t. I would read article after article about men, women, and/or children who lost their battle, and I would start to ask “why?” even more. Why them and not me?

I had no significant other in my life. I had no children who needed me. “So, why am I still here?” is what I would ask and think about. If I thought too long about it I would start to cry, and as I cried I would call out to God and ask Him why. The answer that I believe God gave me was that that even though I didn’t have a significant other and children, I had people who loved me and needed me in their lives. And I still had some purpose here on Earth.

Did survivor’s guilt go away? No, and I don’t think it ever will – not completely. That said, something feels different each time that guilt pops up now. I don’t dwell on it. I remember those who love me. I think about all the ovarian-cancer awareness advocating I have done and will continue to do. I share my story in the hopes that other women will listen to their bodies thereby getting them to go to the doctor sooner rather than later. I share my story in the hopes that other survivors will share their stories too. Because when more people share their stories, more awareness will take place. And awareness is knowledge and knowledge is power.

For me, the way to survive survivor’s guilt is to live a life of purpose. To do more with giving back. And to remember that survivor’s guilt can rule you or you can rule it.  I’ve chosen to rule it. I know it will come and it will go, but it doesn’t have to stay. Not unless I let it. And I don’t, I won’t.

Hope Aguilar is a teacher of the English language in Saudi Arabia, and the author of  the book “HOPE through Cancer.” The native Texan is also a veteran of the U.S. Navy and Army. She loves to advocate for ovarian cancer awareness, travel, write, jog, and spend time with friends and family.

Cancer

My last promises to her: Advocate for lung cancer awareness and live life to the fullest

My last promises to her: Advocate for lung cancer awareness and live life to the fullest

We’ve partnered with Inspire, a company that builds and manages online support communities for patients and caregivers, to launch a patient-focused series here on Scope. Once a month, patients affected by serious and often rare diseases share their unique stories; this month’s column comes from a patient advocate from California.

Don and Penny - smallI was diagnosed with Stage 4 Non-Small Cell Lung Cancer in June 2009. I have had numerous treatments of radiation and chemotherapy for the lung cancer, and six cycles of Gemzar for metastasis to my liver. I’m one of the fortunate few because only 16.8 percent ever reach the five-year mark. I’m stable today because of the targeted therapy pill Tarceva that I’ve been taking for almost five years.

All through my journey I have kept a positive attitude, focused on good nutrition and gotten plenty of exercise. I try to live my life by spiritual principles. I feel they all play an important part in my recovery and the reason that I’m still above ground.

The bad news is that I have cancer. The good news is that cancer has taught me to live life to the fullest. I never allow cancer to define me. I rarely miss an opportunity to hike, bike, or do anything that strengthens my immune system and keeps me out in nature.

In October 2011 I met Penny Blume, the love of my life, on a lung cancer support community on Inspire. Penny left this earth on Jan. 21, 2014 after battling small cell lung cancer for 32 months. Penny and I spent our time together traveling back and forth from New York to California. She passed at my home in Santa Rosa, Calif., after trying one last clinical trial at Stanford Cancer Center.

Penny and I turned to each other for emotional support to battle our cancers and fell in love. It was after a couple of months of texting and chatting on social media that we decided to meet. Penny flew to California for her first visit in January 2012, and the rest is history.

My relationship with Penny also marked the beginning of my advocacy work for lung cancer. It started when a friend of ours asked us to post our story on a lung cancer survivors group on Facebook. I posted something, and then Penny and I decided to repost it on Inspire, since it was the site that brought us together. In September 2012 our story was shared by ABC News and Good Morning America. In the following weeks, it was shared and tweeted all over the world.

My efforts to share our story and talk about lung cancer publicly have only grown stronger since then. I support Team Draft, an initiative of the Chris Draft Family Foundation, which is dedicated to raising lung cancer awareness and increasing badly needed research funding by shattering the misconception that lung cancer is a “smoker’s disease.” I’m also an advocate for The Lungevity Foundation and have attended two of their Hope Summits in in 2012 and 2013 and participated in numerous medical advisory panels. (Penny attended our first Hope Summit in 2012 where we recorded this message of Hope.)

Two years ago I was nominated by Lungevity to be a consumer reviewer for the Medical Directed Lung Cancer Research Program for the Department of Defense. As a veteran and lung cancer survivor I’m particularly grateful I can do my part through the DOD program.

November is Lung Cancer Awareness Month, and it will be a busy month for me: I’m  doing events with Chris Draft, Genentech and the Lung Cancer Research Program.

My last promises to Penny were that I would continue to live life to the fullest and advocate for lung cancer research and awareness. One day at a time I try to keep those promises to her.

Don Stranathan is a business development manager for a technology company in Rohnert Park, Calif. who is now on disability, as “fighting my cancer has become a full time job.” When not doing advocacy work, he is at the gym spinning or out hiking, biking and fishing with friends and family.

Previously: Tackling the stigma of lung cancer – and showing the real faces of the disease and A patient’s journey with lung cancer
Photo courtesy of Lungevity

Cancer, Patient Care

Healing hands: My experience being treated for bladder cancer

Healing hands: My experience being treated for bladder cancer

We’ve partnered with Inspire, a company that builds and manages online support communities for patients and caregivers, to launch a patient-focused series here on Scope. Once a month, patients affected by serious and often rare diseases share their unique stories; this month’s column comes from a patient who has asked to remain anonymous.

“I hate to be the one to tell you this, but you have invasive bladder cancer.”

That’s certainly the last thing anyone wants to hear from their doctor. And it’s undoubtedly news that doctors must dread having to tell their patients.

I owe a debt of gratitude I can never fully repay to all of those whose healing hands, both literally and figuratively, reached out to help me

I heard those fateful words from my urologist in August 2012, at which time I was informed that my best course of action was to undergo chemotherapy treatments and have my bladder completely removed. Oh yeah, my prostate had to go as well.  “You’ve got to be kidding me,” I thought. “I’m 46, healthy, and serious health issues aren’t supposed to happen until I’m old – like 70 or something.”

So began my journey of cancer treatment, which included three rounds of neoadjuvant chemotherapy and culminated in the removal of my bladder and prostate. Like many who have to get on the roller-coaster ride that is cancer treatment, my road to recovery was rocky at times.

During a bladder biopsy and resection procedure, the doctor determined that the tumor in my bladder was blocking my right ureter, putting the kidney at serious risk. I was rushed to surgery where I received a nephrostomy stent. Two weeks later, a port-a-cath (for administering the chemo infusions) was placed in my chest; and three days after that, it had to be removed due to an infection. Then came the chemo, which was certainly no picnic – I suffered from a variety of side-effects, not the least which was becoming seriously neutropenic. Later, following surgery, my heart went into A-fib and I was whisked off to intensive care.

One of the ironies of my experience: Prior to the cancer diagnosis, I had never even spent a night in the hospital.

As most anyone who has gone through this experience can attest, it really kicks your ass physically, emotionally, spiritually, existentially, and about every which way in between. The good news today, though, is that I’m cancer free and my prognosis for long term survival is very good. I feel better physically than I’ve felt since this whole circus started, and I’ve resumed most of the activities I previously enjoyed before the cancer diagnosis. Nonetheless, healing emotionally from the trauma of the whole experience – including life with a urostomy – is still a work in progress.

Recently, I’ve been reflecting at depth on my journey with the Big C. During my treatment I interacted with an untold number of health professionals. From doctors and nurses to social workers and massage therapists, scores of health-care professionals and related practitioners were involved in helping me get better. I am in utter awe when I think about the years of training that each of these individuals received; the fortitude it must take to deal with the sick and infirm on a daily basis; the medical research behind the development of lifesaving chemo treatments; and surgical procedures like the cystoprostatectomy.

I owe a debt of gratitude I can never fully repay to all of those whose healing hands, both literally and figuratively, reached out to help me. Like my feisty little 70 year-old home health-care nurse Jackie, who told me, “During chemo, you’ve got to keep moving! Get out there and walk every day, stay active. You won’t feel like doing it, but do it anyway!” I followed her sage advice and sure enough, it really did help. Jackie also coaxed me through a very rough time after the removal of my port-a-cath when I was told I would need to stuff gauze in my gaping open chest wound on a daily basis. Jackie was right there, providing me with the encouragement and support that enabled me to get this done.

Then there were the various residents and fellows who provided for my care. The competency and kind bedside manner of the chief resident in urology helped me calm down and enabled me to wrap my head around what I was facing when I was first diagnosed. The expertise, professionalism, and compassion exhibited by the fellows who were involved in my surgery and subsequent care in the hospital were also appreciated.

And let’s not forget the attending physicians, whose years of education, training, and experience enabled them to do things that 100 years ago would be considered no less than an absolute miracle.

To all those in the health-care field who touched my life during this journey, my unending gratitude. To those who are answering the call to provide professional medical care for others, my sincerest respect.

The author of this article lives in Virginia and works in administration at a large hospital.

Cancer, Men's Health

So my life will be shorter than I’d hoped – what should I do differently?

We’ve partnered with Inspire, a company that builds and manages online support communities for patients and caregivers, to launch a patient-focused series here on Scope. Once a month, patients affected by serious and often rare diseases share their unique stories; this month’s column comes from Dave Staudenmaier.

“The news of your demise has been greatly exaggerated,” joked the surgeon when realizing I might have a rare slow-growing cancer instead of the horrifically aggressive and deadly adenocarcinoma of the pancreas that everyone thought I had.

He was right. I had “stage 4” Pancreatic Neuroendocrine Tumor metastasized to my liver. This was good news because it’s a slow-growing cancer.

Figuring out what to do with my life – not getting surgery – is what’s most urgent and important to me

It’s also the cancer that Steve Jobs had (and died from).

I fired my surgeon and my oncologist. Not because of his humor, but because of the urgency he placed on taking out my duodenum, gallbladder, spleen, part of my stomach and my entire pancreas in a “procedure” called a Whipple. No other options were considered or offered. No calls to a PNET specialist were made – so I found one on my own.

I was also told: There is no cure. There is no remission. Treatment options are limited and inconsistent. It’s possible that surgery might have bought me more time – but my new care team understood that I favored quality of life (hence my decision to opt out of surgery) over length of my life. And thankfully, some new treatments not available in Steve Jobs’ time have worked to shrink my tumors by sixty percent.

Though we’re fighting to keep the tumors from growing again for as long as possible, it sure looks like I won’t be around as long as I’d hoped. And though the drugs are helping control this beast, I know they won’t help forever and there will be pain and fatigue and other quality-of-life issues. So figuring out what to do with my life – not getting surgery – is what’s most urgent and important to me.

My work.  Should I quit my job like so many of my fellow PNET patients have? No way! I love my job, and it has only gotten better since my diagnosis. Seemingly by providence, last year my position was changed and I now head development of patient engagement software for the large health-care solutions firm I work for. I have the opportunity to directly help tens of millions of patients – patients like me.

My family. I have a wife and three teenagers. How can I create more time to make  memories with them while I still feel good? I now pay someone else to mow my lawn and perform those other maintenance services that previously consumed much of my weekend time. We live in Florida where there’s a lot of fun things to do as a family, so we do it – spending more time together than we used to. We also blew some savings for a family vacation to Turks and Caicos. We’ve never vacationed like that before and it was awesome – something that created good memories. I want to do something like that again.

My everyday life. Fewer things to worry about means less stress. After I was diagnosed, we gave away more stuff than we kept and we don’t miss it. All bills are now auto-paid so we don’t think about them and can’t miss a payment. We have one debit card and one credit card, and we pay for most things in cash.  And we learned to say “no,” as we limited our obligations to maximize our free time. I’ve also tried new things:  So far I’ve learned how to ride a horse and how to cook. Up next, skeet shooting.

I continue to rethink and reprioritize my life, and I’m thankful that my new care team understands what’s important to me and provides treatment that aligns with my goals.

Dave Staudenmaier is Senior Director of Development for Greenway Health, where he leads an awesome team creating software products benefiting patients and physicians. Dave continues to fight PNET with the support of his wife of 23 years and three children.

Previously: Managing a prostate cancer diagnosis: From leader to follower, and back again and A rare cancer survivor’s journey to thriving and advocating

Cancer, Men's Health

Managing a prostate cancer diagnosis: From leader to follower, and back again

We’ve partnered with Inspire, a company that builds and manages online support communities for patients and caregivers, to launch a patient-focused series here on Scope. Once a month, patients affected by serious and often rare diseases share their unique stories; this month’s bonus column comes from patient advocate Jim Rieder.

Caring for others has always been part of my approach to life. I built my career in health care serving as the CEO of a statewide non-profit foundation, in addition to being the CEO of seven diverse types of hospitals. Naturally, I was intimately familiar with the steps necessary for a person to become an empowered patient. But when I was forced into the role of being the patient, the initial transformation was surprisingly more intense and unsettling than I had imagined it would be.

Managing prostate cancer is a battle. Recognize it as such. Invest the time and energy necessary to empower yourself with the knowledge you’ll need to make informed choices about your path of treatment

When a person is diagnosed with any type of cancer, the obvious objective is to get rid of it completely as quickly as possible. After being diagnosed with prostate cancer in 2002 and doing my due diligence, I ultimately decided that a radical prostatectomy was the best course of treatment for me. I had the surgery in 2003, and I’m very happy to report that I’ve been cancer-free ever since. However, it’s important to recognize that there’s not a one-size-fits-all solution for treating prostate cancer.

In response to prostate cancer diagnosis, it’s critical to take a step back, take a few deep breaths, and try to approach the situation calmly and logically. Don’t let anyone rush you. There’s ALWAYS time to evaluate the medical options and get a second opinion from another medical expert who ideally is not affiliated with the same practice as the physician who provided the initial diagnosis or treatment recommendations. Know that watchful waiting or active surveillance can be viable options. Every treatment has side effects, which typically include erectile dysfunction and/or incontinence. The skill of the physician and the amount of experience specific to the procedure being performed are very important in minimizing the presence and ongoing impact of these side effects.

Some guys pursue their treatment and quietly return to business as usual without ever talking about their prostate cancer or its side effects. While I respect the option of maintaining privacy, I encourage anyone who’s facing a diagnosis of prostate cancer to reach out for help from others who have already traveled the same path, and to reciprocate down the line by helping others who will be grappling with the involuntary transition into joining the prostate cancer community. Also recognize that prostate cancer affects spouses or partners, as well as family members. Their support is also very important.

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Cancer, Patient Care

"As a young lung cancer patient, I had to find my own path": Fighting stage IV with full force

We’ve partnered with Inspire, a company that builds and manages online support communities for patients and caregivers, to launch a patient-focused series here on Scope. Once a month, patients affected by serious and often rare diseases share their unique stories; this month’s bonus column comes from patient advocate Emily Bennett Taylor.

When I was diagnosed at age 28 with stage IV lung cancer (yes, you read that right: 28. Non-smoker, college athlete, lung cancer), I wanted to shout it from the rooftops. No, not in the joyous, “share-my-news” type of way. The concept was so unfathomable that I sometimes felt the only way it would really sink in is if I screamed it out loud in public. I didn’t, of course. While many social norms, like dressing to leave the house or even showering, went completely out the window as I underwent treatment, I’m happy to report that I managed to maintain at least a semblance of sanity in public. And I’ve thankfully found better venues – such as this article – to share my story.

I learned very quickly that as a young lung cancer patient, I had to find my own path. In a cancer normally associated with older smokers, I was constantly telling my doctors: “I’m different. I’m strong. I want to be as aggressive as possible.” Standard of care is to treat stage IV patients palliatively, but that didn’t sit well with me – I wanted a cure. I was told “no” to surgery countless times. I kept seeking second, third, multitudes of opinions in order to find a doctor who would see me as the young, strong person I was with my whole life ahead of me.

While I tested negative for all known genetic mutations (I know one is out there – please find it for me!), I was fortunate to be part of a small percentage of patients who respond to traditional chemotherapy. After six rounds of carboplatin, Alimta and Avastin, and two additional infusions of Avastin, I found my white knight in Raja Flores, MD, of Mount Sinai Hospital. My husband and I relocated from our home in California to New York City for three months, and on February 8, 2013, Dr. Flores removed my entire right lung, pleura, half my diaphragm, all mediastinal lymph nodes, and the pericardial sac (around my heart), which he rebuilt with Gore-Tex.

Three weeks into my recovery, I began a follow-up course of 28 rounds of high-dose radiation to my right lung cavity. If there were any cancer cells left, Dr. Flores and I intended to fry them into oblivion – even if side effects had me vomiting and nauseated for the better part of six weeks, and exhausted for another six months.

My reward? Dr. Flores declared me N.E.D. – No Evidence of Disease. I’ve lived with that diagnosis for almost a year and a half now, and it feels fantastic.

Is life with one lung difficult? Sometimes. But the most important thing to me is that it’s still life. Lots of surgeons told me “no” because they believed removing a lung would diminish my “quality of life.” For me, losing a lung meant gaining my life, and that’s a trade-off I think any patient would make if given the choice.

If you’re a medical student looking for an area where you can make a serious impact, consider lung cancer. In the past few decades, survival rates for other major cancers (breast, prostate, colon) have increased to well above 50 percent, some reaching the upper 90s. Lung cancer, the nation’s No. 1 cancer killer? A dismal 16.8 percent.

This is a field ripe for advancement. We need researchers developing better treatments and methods of early detection. We need doctors who both understand that the face of lung cancer is changing and are also willing to push the envelope with their patients to find an individualized, aggressive cure.

Every lung cancer is different, and every patient deserves a treatment plan with the goal of preserving life. You can be the difference. You can make an impact. And you can change the course of someone’s life, just like Dr. Flores did for me.

Emily Bennett Taylor, a former state track champion, college volleyball player, and finance manager, is now a Stage IV lung cancer survivor and spokesperson/patient advocate for the Bonnie J. Addario Lung Cancer Foundation. Her story has been highlighted on the Steve Harvey Show, the Atlantic Monthly, and on her blog – embenkickscancer.wordpress.com – named to Healthline’s Top Lung Cancer Blogs in 2013 and 2014.  She writes candidly about her treatment and life with one lung, as she works to raise awareness about the leading cancer killer.  Emily lives in Southern California with her husband Miles and their two lovable mutts, Ginny & Tonic.

Autoimmune Disease, Chronic Disease

Empowered is as empowered does: Making a choice about living with lupus

We’ve partnered with Inspire, a company that builds and manages online support communities for patients and caregivers, to launch a patient-focused series here on Scope. Once a month, patients affected by serious and often rare diseases share their unique stories; this month’s bonus column comes from Pattie Brynn Hultquist, C.H

“How do you do it?”

I get it. A mother of five, a wife, a childcare provider, president of the condo board. Chartered herbalist, scrapbook design team member, wool and fiber spinner, avid camper. Yoga enthusiast, a weight-training type-2 diabetic – the list continues.

How, exactly, does one manage living with an autoimmune disease like lupus: the disease of a thousand faces, the epitome of “You don’t look sick”?

When I first received my diagnosis of systemic lupus erythematosus I was devastated not only for myself but for my family, friends and extended personal communities. It wasn’t just me receiving a diagnosis on that brilliantly colored fall day in 2010; it was my entire social network.

Lupus can affect people very differently. Some people have skin issues. Some have joint pains. Some, like myself, also have had a heart attack, pericarditis and kidney issues that makes taking medications a game of pharmaceutical roulette: sometimes, medications makes me feel worse.

That isn’t living. That’s existing.

I joined forum after forum, community after community, group after group, all over the Internet. I had to know how to live with an autoimmune disease. What I found were either the “Whine-1-1” or the “Positive 24/7!” I left them all.

I felt a little like Neo when offered a choice between the red pill and the blue pill.

My choice?

Taking neither and forging my own way through this made-for-TV-movie kind of life living with a chronic disease.

I started a blog. I started sharing how I, a mother of five in the chaos of my reality, was living with lupus. I wrote about the good, the bad, the ugly, and the deliriously exhausted life I live. It struck a chord with many who know chronic illness for its complexity. There were so many people experiencing the very same thing!

I went from blogger to globally recognized health advocate. And one day I told my primary care physician about my writing. I told her about how many people are suffering in silence because they feel “invisible” not just with their health-care teams, but with friends and even family. I even told her about how I felt that way, myself. She told me, in all honesty, that she had never really considered the magnitude of social effects that someone’s diagnosis can engender.

I was stunned. Sure, she had mentioned my husband and children at our appointments, yet she conceded that she had simply not considered event invitations no longer extended (I simply can’t commit to one way or another because lupus can flare up at any given time with pain, exhaustion or sickness), or, of having often to redefine my abilities and seek out new friendships in order to keep proactively engaged in life.

That was the day I illustrated the research, networking and usage benefits of social media as my outlet, and she became empowered to begin treating the socio-emotional impact of health care: how interpersonal communities and social media can be a powerful tool in the health-care toolbox for individual patients.

The result? I was validated by the health-care professional who is most intimately aware of the clinical and physical demands of this disease on my body and how it affects my entire social network. Validation heightens my confidence to be a proactive patient. Proactive behavior advances whole-body health care and awareness.

Choice is a beautiful thing.

Pattie Brynn Hultquist, C.H., is a globally recognized lupus and chronic illness health advocate at her weblog, Lupus Interrupted. A team captain for the Walk for Lupus, held annually, she participates in fundraising efforts at Gold Award levels for Lupus Ontario. She can be found on multiple social media platforms sharing information, resources and the realities of living with chronic conditions, her supportive family always within reach.

Chronic Disease

Living with Ehlers-Danlos Syndrome: “Sometimes I just don’t have it in me to be inspirational”

We’ve partnered with Inspire, a company that builds and manages online support communities for patients and caregivers, to launch a patient-focused series here on Scope. Once a month, patients affected by serious and often rare diseases share their unique stories; this month’s bonus column comes from previous contributor Michael Bihovsky.

I have a connective tissue disorder named Ehlers-Danlos Syndrome. It’s a genetic collagen defect that results in super lax ligaments and tendons, creating frequent joint dislocations, cartilage tears, chronic muscle spasms, and much more. May is Ehlers-Danlos Awareness Month.

Every EDS patient knows that one of the hardest parts of our day is the moment we open our eyes and waken into the reality of our bodies

Usually I take this opportunity to say something inspiring, about how my illness has changed me for the better and given me a clear purpose in life for both the work I do and the person I want to be. While all these things are true, the fact is that sometimes I’m in a physical state where I just don’t have it in me to be inspirational. And that’s all right – inspirational words are meaningless without the context of genuine human struggle. So, if you’re interested – and if you’ll bear with me – I’d like to take this opportunity to talk about EDS in its rawest sense, and to do my part to tell you about the very serious disease it is.

When I was a child, I got sick… and I never got better. And I never will. When I was finally diagnosed with EDS, it was made clear to me that there was no cure for my condition. The best we could do was try to manage and slow the symptoms – symptoms that were pretty much guaranteed, in the long run, to get worse. I have done the best I can with this knowledge. I’ve tried to make the most of the life I’ve been given, and whenever possible to keep a smile on my face and hope in my heart. But it’s been very hard. Every EDS patient knows that one of the hardest parts of our day is the moment we open our eyes and waken into the reality of our bodies, stirred from dreams of ourselves as we used to be, and the futures we imagined we’d have.

EDS is considered a rare disease, but every year the suspected percentage of those afflicted rises dramatically. The disease is notoriously underdiagnosed because doctors themselves don’t usually know about it, and are only able to start diagnosing patients when a textbook case (such as myself) walks into their office and physically demonstrates what it is. The devastating irony is that EDS is actually one of the simplest diseases to diagnose – all you really need is a protractor, and an online guide to a system of criteria known as the Beighton Scale. Then take this to your doctor for confirmation. When I performed these tests on myself a few years ago and then went to my doctors asking “What do you know about Ehlers-Danlos Syndrome?”, the deer-in-the-headlights look was as unanimous as it was unnerving.

So for anyone out there suffering from chronic pain, or other strange symptoms, please look into this. Or if you have a friend in physical distress, please pass on this information. EDS is a scary and challenging diagnosis, but the consequences of not knowing are far greater than that of a correct diagnosis. EDS symptoms can range from the very mild to the extremely severe. One thing is certain, though: If I had received a diagnosis back when my symptoms were mild, I would be living a very different life now. Every single day, in my struggle to actualize the person I still can be, I cannot help but mourn the person I could have been.

To the many people out there reading this who have EDS, or any other chronic illness, “invisible” or not – thank you for being my brothers and sisters. Take care of yourselves, and take care of each other. And remember that healing others may very well be the clearest path to healing ourselves.

Michael Bihovsky is a musical theater composer and performer, and an “invisible illness” advocate. He is best known for his viral YouTube video “One Grain More,” a musical parody of Les Miserables about the plight of the food allergy community. Michael has also written an original musical, “Fresh!,” which tells the semi-autobiographical story of a group of college freshmen overcoming physical and emotional adversity amidst the craziness of college, and he is currently writing a book titled “Live Because: The Philosophy of the Broken, and the Journey Toward Wholeness.” For more information, visit www.livebecause.com.

Previously: “Live Because:” Living a fuller life with chronic illness

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