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; the latest comes from Iowan Dawn M. Nellor.

Imagine you’re a busy specialist, preparing to meet a new patient in your office…

You note that your patient only slightly smiles and seems a bit distant. Many of your patients come in with three backpacks full of medical records, yet she has nothing. If this patient is so ill, where are all her labs and tests? You note that she’s watching your every move, and you can’t help notice that she’s mainly watching your face. Where is her laundry list of symptoms and complaints, you wonder. You ask her what’s going on and what brings her in today. In a quiet voice she answers, “I’ve had pulmonary sarcoidosis for four years, and I’ve been having facial and hand pain for two years, and no one knows what’s wrong.” You’re puzzled by her, wondering why she’s monotone and aloof. Do you ask yourself, “Is that it, just one sentence from a chronically ill patient?” And do you feel concerned - or lucky?

As a person with a so-called invisible illness, my behavior at my last appointment with a specialist mimicked that of the patient in the scenario above. Why did I act this way? Because I was afraid to be there, and because I had low expectations for the visit. The behavior of past appointments with family practice physicians and specialists have numbed me to their raised eyebrows and the “look-away” that represents disbelief. I already know when the arms are crossed and the chair rolls back that the doctor’s next questions will be, “Are you sure it’s not stress? Do you exercise? Are you on antidepressants? Why don’t you see your psychiatrist, or try a different medication?”

There’s a major communication gap between chronically ill patients and some physicians. I don’t criticize every doctor by any means. But I feel that not enough physicians understand that both doctors and patients want and deserve respect, and to be heard. Patients don’t want to feel dismissed.

Based on my experience of not always having been heard, I’ve made changes in my life to empower myself. I live in a small community, but through online support groups I constantly talk with others affected by rare diseases to raise awareness on what life is like living with one or having a love one affected by one. I attend cognitive therapy weekly to take more control over various areas of my life and to be reminded that I still need to ask for help. I’ll soon be going to a pain management clinic that has an intense program in which a psychologist helps with coping skills related to the pain and a physical therapist works with you. I educate myself more through reputable medical sites, and I keep my primary care physician educated on clinical news.

As for changes physicians might consider, one way to improve physician/patient communication is for doctors to read and understand first-hand patient accounts - and to understand that if a patient isn’t saying much during an appointment, there’s probably a good reason. And I encourage physicians to be more aware of their body language when talking with patients, particularly those struggling to get the right diagnosis. If we sense that you’re frustrated even before you say hello, we’ll likely close up and just go through the motions during our appointment - like the patient did above. And how unfortunate would it be if you were the one doctor who could actually help that patient?

Dawn M. Nellor, of Audubon, Iowa, advocates for rare diseases and education on the stigma of invisible illnesses. She’s currently learning lobbying at the legislative level for sarcoidosis research and treatment. Her greatest joys in life are music and her pets, which include one Maltese dog and four cats.

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; the latest comes from cancer survivor Dan Adams.

This past November I had my semi-annual cystoscopy. My visit was an early Christmas present, as I wound up receiving an “all clear” from my urologist. This coming May, if I get another “all clear,” it will mark five years of cancer-free living.

I had a resection to remove a bladder tumor in April 2008. I received an inconclusive pathology report following that procedure and a lot of hesitation from my first urologist. That’s when I sought a second opinion from a urologist at a major university hospital. Another resection and a couple of rounds of immunotherapy, and my bladder cancer was gone.

My follow-up cystoscopies were initially every three months, and now I’m comfortable with a six-month schedule. If something is going on in there, I want to catch it early. I’m not ready to move to an annual checkup. I don’t know if I will ever be ready.

It’s been a bumpy road; a few “red spots” in the bladder that required biopsies and a perforated bladder (those damn catheters) elevated my anxiety above and beyond what might be the norm following a cancer diagnosis. Having a cancer with a high reoccurrence rate also contributes to my feelings of anxiousness.

During the first couple of years in this war with bladder cancer, anxiety consumed my everyday living. Cancer was always on my mind, but I was unaware that anxiety was running my life. It took a long time, but eventually I learned to recognize changes due to anxiety, things that aren’t really “me.” Inattention to details, aimlessly daydreaming and becoming much more emotional were some of the telltale signs. I realized things weren’t right and I sought the professional help I needed. Thankfully, this help and the encouragement and support of a close family brought me through a very trying period.

While my anxiety is more or less under control, I’m still very aware that it’s there - and I’ve come to realize that knowing you have anxiety issues is essential to dealing with them. I know my anxiety level increases as I approach my next cystoscopy, and so I now slow down in the weeks leading up to the procedure and defer major decisions to a less anxious time.

I’m very aware now of anxiety and how it has affected my life beyond cancer. In this nearly five-year battle, anxiety has been the one medical issue, or side effect, that no one brought up; no one mentioned it as an issue to be aware of or offered treatment. I wish someone, in the beginning, had told me that cancer is a game changer, that my life will never be the same. I wish someone had explained that I need to be aware of how powerful anxiety can be, how it can affect your life, your relationships, your work.

I’ve been a bladder cancer warrior for almost five years, but it’s been only the last few years that I’ve come to realize that anxiety - not just the disease - is something I need to conquer.

Dan Adams lives along the Southern New Jersey Shore where he and his wife of 35 years raised three children and recently became grandparents for the first time. Dan is committed to raising awareness of bladder cancer and supporting those who are newly diagnosed through the Inspire/BCAN Support C0mmunity.

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; the latest comes from retired nurse Joan Jahnke.

After 2 ½ years of seeking a definitive diagnosis for my heart disorder, my physician of 14 years told me, “You have been insistent, persistent and consistent each time you presented.” She smiled at me as she said this, and I accepted this compliment as a job well done.

I had been diagnosed with cardiac endothelium dysfunction. I considered the diagnosis a triumph of some sort: Standard tests don’t always identify the disease, and I had gone on quite the journey to identify the source of my problems.

From the beginning, I had stayed focused on my heart symptoms. When various specialists insisted on blaming other organs (gall bladder, uterus, lungs) for my chest pain, I was insistent that they were off target. As a cardiac nurse, I knew that the mounting conflicting test results were confusing, but I felt confident my heart was the issue. After all, I knew myself far better than anyone else could.

Within weeks of my symptom onset, I read an interview with Dr. George Sopko, a cardiologist at the National Institutes of Health, who said, “Women, pay attention to your heart symptoms.” And so, I did that. I began a very succinct journal documenting the timing, duration and quality of chest pain I was experiencing, and I also included what I did to relieve the symptoms. It presented a cause-and-effect pattern with details that supplemented my memory.

I persisted in my search for a definitive diagnosis for my symptoms. My sources were not anecdotal stories from Internet blogs, but instead were scientific papers funded by medical universities and research institutions. I copied medical articles, whose content and format would be most familiar to physicians. I sought out the opinions of medical friends and colleagues, and I approached my research from the perspective of a student - not that of an emotionally distraught woman whose quality of life was rapidly failing.

I remained consistent in my approach. Mindful of how time-consuming difficult diagnoses can be, I came prepared for appointments. I brought with me my ever-present journal, previously prepared questions and medical articles. Many times, my husband would serve as my note-taker, which allowed me to listen closely and concentrate on getting my questions and comments addressed. I offered options for my physicians to consider. I was wrong many times, but never was I rebuffed.

My behaviors culminated in a referral to the Emory Heart Center in Atlanta. By then I was very short of breath, and pain dominated my life. I forwarded my precious journal to the Emory cardiologists, Dr. Jerre Lutz and Dr. Habib Samady, and asked them to read it prior to my appointment. Dr. Lutz knew by page four what was wrong! And he immediately initiated a medical plan of action, in conjunction with Dr. Samady.

My advice to anyone traveling on the difficult road to a diagnosis is to not become the difficult patient - that is, the patient who doesn’t keep track of tests or medication trials as the medical record grows in size, who doesn’t return for appointments, or who disrupts an office practice and makes accusations that no one is listening to his or her complaints. A squeaky wheel doesn’t always get the first or best attention.

Instead, develop a set of behaviors that make you a participant in your healthcare - not merely its recipient. And be insistent, persistent and consistent in your communication and relationship with your physicians.

Joan Jahnke, a retired R.N. with experience in cardiac nursing, lives in South Carolina. She has written about her heart experiences and been active on the Internet since 2008. In 2012, she appeared on a PBS show to discuss how her heart disorder has changed her life, and the difficulties she had in obtaining a diagnosis.

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; the latest comes from patient advocate Stan Hardin.

Society teaches us that men are the “tough” ones. Men don’t want to be considered weak, or unhealthy – which is one reason they don’t see their physicians as often as they should.

Ten years ago this past July, when I was 44, I had to overcome my own inhibitions of visiting the doctor I had seen for regular checkups over the years. Those visits were always standard - that is, except for the dreaded “turn your head and cough” moment, when things became uncomfortable for me. So this appointment, during which I was there for the doctor to examine my penis, was a difficult one.

I wound up being diagnosed with Peyronie’s disease, a condition characterized by the formation of fibrous tissue plaques within the tunica albuginea, usually causing a penile deformity and subsequent erectile dysfunction.

My general physician referred me to an experienced urologist who was trained in treating PD. His expertise went further than just treating me physically. He actually took time to sit and talk with me, and his attention on how PD would affect me psychologically and emotionally made all the difference to my being able to cope.

In 2002, with the Internet still in its infancy, there was nothing available online about PD to help me. So I created my own site and, eventually, a nonprofit advocacy organization. With exposure on the Internet came connections with other men suffering from PD, and through this communication I have made several interesting observations.

What stood out most prominently was the men feeling that male physicians themselves were uncomfortable talking to men with PD. Since this is already an awkward situation, any physician who appears this way will make his patients that much more uncomfortable. I believe that the “turn your head and cough” moment resides within the experience of men with PD much more profoundly.

There is also a general feeling of helplessness about this disorder, as evident by two patient comments on our site:

I’m 31, married and too young for PD, I’ve had it for 2 ½ years. The urologist told me to take Vitamin E and that there is no treatment; he scheduled me for a follow up appointment. I never went, what’s the point?

And:

I have had PD for two years… My doctor sent me to a specialist, who told me that if I had been looking at PD on the internet, that I knew more about the disease than he did… I am 57 years old and very surprised at the dismal options for real help out there!

It’s clear to me that any physician who examines a man with PD - and with any “below the waist” disorder – needs to be aware of, and sensitive to, the patient’s uneasiness about being examined and being diagnosed with this type of disease. The importance of communication cannot be overstated.

I now know how fortunate I was to have a urologist who understood the complexity that surrounds a diagnosis of PD, and who came to my level and made me feel comfortable with the disease and talking about it. Even after a diagnosis of PD, I can proudly proclaim that I am still a man – and also an active participant in my health care.

Stan Hardin, of Colorado Springs, Colorado is founder and president of Association of Peyronie’s Disease Advocates, a nonprofit organization dedicated to the education and awareness about PD, The clinical information from the APDA is overseen by some of the most renowned urologists who research Peyronie’s disease and treat men with PD.

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; the latest comes from college student Leanna Scaglione.

Five years ago, I was training to become a professional ballerina. Continual pain in my thigh while dancing brought me to an orthopedist who discovered a tumor the size of a melon in my lower spine, and I wound up being diagnosed with Neurofibromatosis Type 2 (NF2). I was 16 years old.

The removal of the tumor caused enough nerve damage in my right leg where I couldn’t stand without my leg collapsing, thus ending my ballet training and my dreams. I was bound to a wheelchair for almost four months and had to re-learn how to walk. At the time of the surgery, it was explained to me that there was a chance I would not be able to dance again.

Now, at 21, I have defied fate by still dancing and re-obtaining almost all of the nerve responses that were lost. Granted, if I wasn’t so stubborn about continuing to dance this probably wouldn’t have happened. I couldn’t stand being told, “You can’t do it,” because it made me feel less than average, less than human. I would not let myself be defined by my disease.

When the tumor on my left auditory nerve was first discovered, at age 17, the neurosurgeon who removed all of my previous tumors pointed me towards finding someone who specialized in hearing and brain tumors as this was not his field of expertise. I was a bit disappointed because he was such an excellent surgeon: He had the ability to remove the tumors with minimal nerve damage, he had always taken the time to know me as a person and he was extremely supportive through all the procedures from beginning to rehabilitation. However, I appreciated that he didn’t try to be a superhero. I met with four other specialists who gave options of radiation therapy or removal of the tumor, both of which would automatically result in deafness. My mother did extensive research on alternative treatments, and we decided that chemotherapy would be the better choice.

I’m currently on the RAD001 chemotherapy drug trial, run through NYU Langone Medical Center, to treat the tumor on my left auditory nerve. This is the second trial that I’ve participated in. The first one was for Lapatinib, also run by NYU. I was one of four people lucky enough to have had success on Lapatinib but unfortunately, it was only a temporary control of tumor growth.

Tomorrow, I will compete in the Miss Connecticut/USA pageant. My original reason for competing was simple: I felt like it. As time went on, I realized it was for another reason: I wanted to prove myself as a person. To prove that despite having NF2, or any other disease, a person can be more than what society expects of them. I want to show that having NF2 isn’t going to stop me from doing anything I desire. I feel like I showed the doctors when I was told I wouldn’t be able to dance again. And now I want to show the public that having a disease shouldn’t stop a person from achieving goals, like competing in a pagaent.

Regardless of the outcome of the pageant, I look forward to graduating college in the spring. I feel ready to take on the world. And I am not defined by my disease.

Twenty-one-year-old Leanna Scaglione, of Connecticut, is a senior at Endicott College, majoring in creative writing. She is also an intern at the advocacy organization Neurofibromatosis Northeast. Scaglione has continued her various interests in dancing and performing arts with dance solos and the starring role of the “Emcee” in her school’s production of “Cabaret.” She plans on pursuing a career in the theatre arts.

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; in our latest installment, Angelika Byczkowski writes about her experience living with Ehlers-Danlos Syndrome.

Once I was whole. No, better
than whole, possibilities
strewn at my feet, choices
all mine for the making.

Then I got sick, and broken.

Now I struggle to fly with broken wings.
Old ambitions and desires
irrelevant, coming down
to earth with new humility.

Always aiming for superlatives,
now grounded with indistinction,
my new insignificance frees me
to fly from the need to be special.

Now I struggle to run with broken legs.
Can’t keep up, can’t catch up,
and the world passes by oblivious
to my desperate thrashing.

All that’s gained is lost
eventually. I jettison years
of accumulation, learn how much
I can do without, pare life down

to bare essentials, and find
the remaining kernel sufficient,
my load much lightened and easy
to swing over obstacles ahead.

Now I struggle to live with a broken spirit.
This, I think, I cannot do. I
languish, lacking spur of vital impulse,
motivation crippled, desire withered.

Paralyzed by apathy, stubborn
hope insists, after broken wings
and broken legs, after the crash
and pain of loss comes possibility

for something new. Anchorless alone
I drift, restrain my swelling panic
at this formless space all around me,
no purchase to be gained on these

feeble clouds, nothing solid to push
either for or against - I struggle only
with myself. And in this void I must trust,
resist the urge to close, and endure

with broken open heart.

Until she was disabled by the progressive pain and fatigue from Ehlers-Danlos Syndrome, Angelika Byczkowski was a high-tech IT maven at Apple and Yahoo. She lives in a rustic cabin in the Redwood forests of the Santa Cruz Mountains with her husband and two dogs.

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 will share their unique stories; the latest comes from celiac-disease patient and expert Alice Bast.

The day I was diagnosed with celiac disease was the best day of my life.

People always react with surprise when I tell them that. They ask how I can consider being diagnosed with an autoimmune digestive disease such a positive milestone. And I tell them it’s because that’s the day I got my life back.

In hindsight, I believe a vacation to Mexico played a role in triggering the disease. You see, celiac is a genetic condition, so you have to have a genetic susceptibility in order to develop the disease. But there’s something else needed to trigger the onset: an environmental factor, usually some type of emotional or physical stress. There’s little known about it, but in my case, I believe a parasite that I caught on vacation was my trigger. I was treated, but after that, things were never the same.

My husband and I were starting a family, and my oldest daughter was born perfectly healthy after a normal pregnancy. My second pregnancy, though, was nothing like the first. Early on, severe fatigue set in. I was constantly weak and rarely got enough sleep, as severe diarrhea, joint pain and migraines kept me awake at night. No matter what I did, I lost weight. Two weeks before my due date, I lost my baby.

Over the years, I went on to have multiple miscarriages before finally delivering my youngest daughter, who weighed only 2 pounds. For eight years, I visited an incredible amount of doctors - 22, to be exact. No one knew what was wrong with me. At 5’9″, I had wilted to a mere 105 pounds. I thought I was dying. My mother died of pancreatic cancer, and I thought I had cancer too, somewhere - but where? When and how would I find it, and would it be caught in time?

It wasn’t until talking to a family friend, a veterinarian, that I realized that what I was eating could be the problem. She mentioned celiac disease and said that animals can have reactions to wheat. Still on my quest for answers, I visited my 23rd doctor. “Here’s my arm,” I remember saying. ”Give me the blood test.”

Sure enough, the results came back positive for celiac disease. Finally. After eight years of struggling, I had my answer. There’s no cure for celiac, but I was told that by adopting a gluten-free diet and ridding myself of anything derived from wheat, barley, or rye, my health would return and I could live a normal life. And it did. And I did.

But my story doesn’t end with my diagnosis. That’s where it starts.

Continue Reading »

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 will share their unique stories; the latest comes from cancer survivor Mark Nelson.

My family and I have always enjoyed the beach, and our goal this past summer was to spend time on one, soaking up the sun and swimming in the ocean. I had a little challenge, though: I’m a one-year colon cancer survivor with a permanent colostomy and a small hernia alongside my stomach. My stomach bulge is bigger than the average person’s, and that’s something that can’t be hidden on a beach.

It was easy to think when planning our vacation that I would have no problem with taking my shirt off and enjoying the sun like everyone else. But I found that as soon as I removed my shirt, people on the beach stared at me and the black tube top I wear to try to conceal my bag and stoma. I was very uncomfortable and felt like a freak.

I’m a cancer survivor. I’ve been through so much. Even so, I wasn’t prepared to feel that way that day. I wish somehow I had been more prepared.

In fact, I wish I had been better prepared for much of my cancer journey.

I was diagnosed with colon cancer in March 2011. We were never actually told by a doctor I had cancer, though: We found out when we received a phone call from the surgeon’s secretary to schedule an appointment with him. She introduced herself as being with the colon cancer department, and when we heard that we knew this was a far graver issue than anyone had told us.

We went to visit our surgeon. He did a finger rectal exam, and it took him ten seconds to tell me I needed surgery and was going to end up with a stoma and a permanent bag. He kept saying that I was young and that everything would be okay. Well, having a bag and a permanent stoma did not feel okay to me. My life was about to be changed permanently, and I barely had time to process it all.

I had my surgery three months later. After surgery, I had a bag on and a catheter, and I came across a nurse who made an insensitive comment about my stoma. She and many of the other doctors and nurses I came across educated me fairly well about my disease and what was happening to me, but they were often blunt and to-the-point when they spoke with us. I questioned whether they had any concern about my mental well-being, and I wished for someone to ask my wife and I how we were handling all the new information and to give me an opportunity to talk about how I felt.

I was concerned that this disease and its aftermath would be changing not only my life but also my families’ lives. I felt out of sorts, confused, not in control - kind of the way I felt at the beach.

Continue Reading »

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 will share their unique stories; the latest comes from Iowa’s Judy Peterson.

Several years ago we moved back to the Midwest, and I needed to find a family physician. I opted for a female doctor, hoping that as a woman she might be more tuned to my aging female body and to its potential health problems. Potential, I say, because I thought I was in good health.

I liked my new doctor and enjoyed my annual physicals and other visits. But looking back, I wish she would have listened more closely to my seemingly minor complaints. I may have been ignorant about the subtle and near-silent symptoms of ovarian cancer, including rib pain and the frequent need to urinate, day and night, but my doctor should have known. I expected her to know.

It was in 2007 when I first mentioned rib pain to my doctor. I told her I couldn’t sleep on my right side. Six months later I mentioned it again, and in late 2008 I once more mentioned the nagging discomfort. During that visit my doctor did a two-second rectovaginal pelvic examination and, as part of my physical, a full blood work-up. The results were still at the lab so before I left I asked her to send me a print-out.

Several days later my blood results arrived in the mail. Three pages. At the top of the first page my doctor had written, “Looks great!” endorsed by an inked smiley face. I casually scanned down the first page. Everything looked normal. But when I got to the third page I noticed my alkaline phosphatase reading was abnormally high, and I did what any normal person does these days: I Googled. Possibilities included problems with the gall bladder or liver and that dastardly word “cancer.” Naturally, I opted to think it was a gall bladder problem and asked for an ultrasound, which showed a large gallstone that I went in to get removed.

My gall bladder surgeon was the one to give me the bad news. As I came out from under the anesthesia, his face swirled in the white light above me while he told me he had found cancer in my abdomen and on my liver. I remember distinctly the photos he showed me. Still under the influence of anesthesia, I replied quietly, “That is not good news.”

Fortunately for me, my surgeon referred me to a Gyno/Onc who debulked me, removed 95 percent of the cancer, tied my intestines into little “animal balloons” (I jest only slightly), returned them to my ab cavity and put me back together with 43 metal staples. I had just endured the “mother of all surgeries.” It was a brutal surgery but without it I would be long dead. The official diagnosis was ovarian cancer (stage III-C), and chemo followed. And followed. And followed.

Three and a half years later, I’m on my 5th chemo regimen. All things considered I’m doing fairly well: I lead an active life, do some volunteer work, take care of my home. I’m grateful to be alive. But I can’t help but think that if my doctor had listened more closely, more sharply, with “ears that hear,” to my ongoing complaints about rib pain, or if she had provided me with a simple informational brochure so I would been more knowledgeable, perhaps I would have been diagnosed long before Stage III-C.

Every woman knows about breast cancer. But very few know about the symptoms or diagnostic tests involved with ovarian cancer – which could be why most of us are diagnosed late in the game, when statistics for survival are grim. Awareness is the most important piece of diagnosis – awareness by both the medical professional and the patient – and so I ask doctors to educate themselves and their patients about this deadly cancer.

Judy Peterson, of Onawa, Iowa, is enjoying her retirement years with her husband, children and grandchildren. She blogs about a variety of topics, including her walk with ovarian cancer, at Wanna Walk Along?

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 will share their unique stories; the latest comes from patient advocate Heather Pierce.

Though I’ve been impacted by Ehlers-Danlos Syndrome (EDS) ever since I was a child, I didn’t first hear of this genetic connective tissue disorder until I was in my 30s. A serendipitous meeting with a geneticist changed my fate.

In my nervous introduction, I promised the new doctor that I was not a hypochondriac, but really did have a funky body. Her curiosity piqued, she smiled a little and responded, “Try me!” After hearing my symptoms, she had her own questions, which initially seemed random, then slowly started to connect the dots of my life. Who else in my family was like me? What were my pregnancies like? What injuries have I had, and did I have any problems healing? She felt my skin and started bending my joints. Then she started talking about Elhers-Danlos Syndrome.

For the first time I made perfect sense to a doctor, and it blew my mind!

Lack of awareness about EDS and stories of it taking years to get a correct diagnosis have led us patients to call ourselves “medical zebras.” For me, my hoof beats were not those of the horses that doctors are asked to think of first; doctors who saw me would mention multiple sclerosis, lupus, and irritable bowel syndrome before settling on fibromyalgia. While I spent years seeing specialists and undergoing tests, EDS was not considered by anyone. After my misdiagnosis of fibromyalgia, I spent the next 14 years damaging my body believing my pain was a false indication of an otherwise functioning, if neurotic, body. Well-intentioned doctors, seeing the horses they were supposed to look for, used my misdiagnosis as a dumping ground for my growing problems.

Eventually, the compiling effects of injuries, increasing dysautonomia, pain and joint weakness created a virtual checklist for a doctor educated in EDS.

EDS is a frustrating diagnosis - the disease exhibits itself differently in each person and has no cure or treatment outside of supportive interventions. Some people are mildly affected while others find themselves unable to function outside their beds. Genetic testing is not fully developed for some of the six types. And current imaging techniques don’t show the severity of the impacts on the body, especially the pain, which is both chronic and acute.

But looking for answers with my great team of current doctors, researching the ever-growing amount of information, and connecting with others with EDS keeps bringing home to me the fact that even medical zebras have different stripe patterns. One patient may be struggling with mobility issues from sudden dislocations of knees and hips, while another experiences more subtle impairment, as a joint slowly slides out with an activity such as walking. One person’s body may react to the hypermobility by locking in spasms, while another can do nothing effective to tighten up a loose joint. Someone may have severe gastric issues while another struggles with vision. The possible effects of faulty connective tissue are endless.

Last spring, I met with my new primary care doctor for the first time. Our discussion began with him reacting to my diagnosis by saying, “I see here you have EDS. How does it feature itself in you?” I wanted to hug him! It was so wonderful to feel like I had found someone who would treat me individually.

As EDS patients, our experiences are so different that all theories, symptoms and treatments won’t apply to all of us. But it’s important for people to understand that this doesn’t make EDS less legitimate or our experiences in it less valid. After all, zebras make hoof beats too!

Heather Pierce, of Baltimore, MD, is a married mother of two who co-leads an Ehlers-Danlos support group and is a volunteer for EDS awareness and education.