Editor’s note: We asked members of the rare-disease online support communities of Inspire, a company that builds and manages groups for patients and caregivers, about their experiences. Inspire has 46 rare disease communities, and about 175,000 of its 700,000 members are affected by at least one rare disease. Here are their responses, edited for space and clarity.
Changed course immediately
When I had my self-discovered diagnosis of Ehlers-Danlos Syndrome confirmed by my doctors at age 24 after a lifetime of symptoms, my immediate reactions were relief and validation. Every friend, family member, and doctor who had dismissed me as a melodramatic hypochondriac changed course immediately, and began to show me a level of compassion and support that few had been capable of before.
My heart goes out to all of the undiagnosed patients who are still being treated the way I was. Plus, if more of my doctors had taken me seriously in the first place we could have arrived at my diagnosis years earlier, likely sparing me from many of its more severe manifestations.
A hidden camera show
Even though I’d been walking around for weeks knowing that something was terribly wrong, it was completely implausible to be told that I’d had a heart attack. And then, to hear it was caused by a rare spontaneous dissection of the artery itself felt like I was on a hidden camera show. Are you kidding me?
For weeks, no medical professional would even entertain the idea that something was wrong, and now a cardiologist is telling me my left anterior descending artery tore on its own, due to a spontaneous coronary artery dissection (SCAD), and caused a widow-maker heart attack, and that’s why I had double bypass surgery? But-I’m 38, have no risk factors for coronary artery disease, and I’m in great health. Un-flippin-believable!
More than my shadow
Long before I was diagnosed, the syndrome had moved into our house, a wispy shadow appearing and disappearing just as quickly.
Nine years ago, the shadow was given a name, Duplication 12q. I felt relief because I had been wrestling with finding a name for nine years.
Then five years ago the shadow changed. While driving home one night a vision issue caused a highway exit to suddenly disappear and reappear again.
Today I am not driving, I am using closed captioning and I will soon be using a wheelchair. Is it from the syndrome? No one knows. How bad is it going to get? No one knows. However like a roommate who has moved in without my permission and will never leave, I learn to move on and adapt despite the shadow. For there is so much more to my life than my 12q shadow and I am determined to embrace it.
Validated. Not crazy
At 38, in good health and at the prime of my life, I traveled to Asia to deliver a demanding presentation to the top 100 people in my company. I nailed it.
Three hours later, walking and talking suddenly became labored, almost impossible. My limbs became numb. A wave of fatigue knocked me down, forcing me into a multi-year slumber. For 27 months, doctors struggled to understand what happened. Was it a stroke? Stress? MS? TIA? Complex migraine? Would it get worse?
Frustration filled each doctor appointment as they ran MRI after MRI, searching for answers. I felt demoralized, as if this was all in my head.
At month 27, I flew myself across the U.S. to a neurologist in Boston, my last attempt to get a diagnosis. The doctor had studied my records in advance and quickly came to a diagnosis of encephalitis, swelling of the brain.
I felt elated. Vindicated. Validated. Not crazy. Still damaged, but rightly so. I am so thankful for having answers. Knowing that the worst is behind me. Understanding my limitations. And thankful for medical practitioners who think outside the box.
At 42, I’ve just been diagnosed with Mast Cell Activation Disorder, which has likely been the root of my lifelong constant anaphylactic reactions and inability to eat most foods, the Postural Orthostatic Tachycardia Syndrome that left me disabled for seven years before diagnosis at 27, and the Ehlers-Danlos Syndrome Type III that was identified as its underlying cause three years ago. I’m relieved, like I was with each diagnosis before, and also sad.
The worst experience I’ve ever had — worse than the most debilitating symptom — was not being believed, over and over again, for decades. It is especially endemic in our culture for women to be denied this way, to have our experiences invalidated in all kinds of contexts, including the medical.
So learning that it’s not in fact your fault is incredibly liberating, and it allows you to start figuring out what you really can do to help yourself.
But I’m sad, still, because millions of you, including members of my own family, are still waiting for your diagnosis. You can’t travel like I did in order to see a specialist who knows what tests to order. Or you’re unable to convince yourself that there is hope, or worse, that you are worth the trouble. You’re worth the trouble. You have to believe me. There is no one whose belief is more important than your own.
Putting 2 and 2 together
I’m not a lazy woman, I never was, but it took me until the age of 57 to finally figure that out. All it took was one little question, from one friend, asking me how far back I remember the Myasthenia Gravis (MG) symptoms going. I knew I had MG for most of my life, but I just never put two and two together, to figure out that the sudden onset of “laziness” when I was 17 years old, was the MG and not me.
I tried so hard to be more active, tried so hard to keep my house clean, but then I would pay the price with a major flare that would last for days.
So learning that it’s not in fact your fault is incredibly liberating, and it allows you to start figuring out what you really can do to help yourself.
What a liberating experience it is, to finally realize something so profound in one’s own life.
Less than understanding
I was a busy oncology nurse starting a cancer center around 20 years ago. My blood pressure was uncontrollable on numerous meds. and I was having miserable other symptoms also. My PCP (primary care provider) decided to do a scan which revealed an aneurysm of the L renal artery and nodes on thyroid gland. An astute vascular surgeon diagnosed fibromuscular dysplasia (FMD), a vascular condition considered very rare then and now.
An endocrinologist diagnosed a pheochromocytoma, another rare condition which frequently manifests as a tumor on the adrenal gland, causing fight or flight symptoms. My thyroid had to be removed, but thankfully it was benign. While I kept working, people were less than understanding of my symptoms.
Fast-forward to 2009. I was having terrible respiratory symptoms and was treated for asthma for two years. I lost 35 pounds, was totally fatigued, had shortness of breath, night sweats, and eventually low grade fever. I finally was diagnosed with nontuberculous mycobacterium (NTM), described as a cousin of TB but not contagious. I've been in treatment for four years and hope to be finished soon, but this is more difficult to treat than TB, and frequently recurs.
Friends and family frequently don't understand what I and others with NTM are going through and think we're lazy. I couldn't go out except for groceries as I was so weak. I have missed holidays and virtually everything.
Never get 'well'
Even working with people on hospice, nothing prepared me for my own sudden health decline. One day my body obeyed my commands and needs, and the next, I was laying on the couch sobbing, unable to get up, in pain I could not describe to anyone and fearful that I was, quite literally, dying.
The dark fear of not knowing the cause plummeted me into depression and unrelenting anxiety. It took over four years to get a (tentative) diagnosis of sarcoidosis, Sjogrens, lupus, as well as Antiphospholipid Antibody Syndrome. Another three years to get those diagnoses confirmed. Finding out that, not only were my lungs involved, but my neurological system as well as my heart had been attacked by a disease that has no known cause or cure had me reeling.
I made a choice. I could allow the sarcoidosis (and other auto-immune) diseases to walk through me, or I could pick myself up and walk through it. I chose the latter.
Though I will never get “well”, though the unrelenting pain (even now being treated with morphine) will never end, the scarring in my heart (and lungs) will never heal, I have found my humor again. I have managed to re-find my gratitude for each day, each sunrise, the sound of laughter, holding my husband’s hand, and the pride I have in my children. These small treasures, while not curing or outweighing the loss of my health, have brought a quiet balance, and a serenity again. I am blessed.
I was sent to a neurologist by my primary, because we could not get to the root of my nerve pain and fatigue and falls. This was in a new state in a university town. This is after three decades of various specialists who only found a little of this and a little of that. My first reaction after my diagnosis was utter relief. Thank heavens I'm not imagining, hypochondriacal or just plain lazy.
This is real! It explains so much!
Falls, funny toes, feet that feel like walking on glass, fractures and sprains, on and on. Suddenly I remember my mother calling me clumsy, the embarrassment of coming in last in school races/swimming/you name it.
I came back from the doctor's office and took a nap because finally, there was no shame in being tired. I have Charcot-Marie-Tooth (CMT) Type 2.
I wasn't alone
When I was born, the doctor noticed something different in my appearance but he really didn't know what was wrong with me. I was born with facial paralysis. My parents did the best they could feeding me a bottle. Mom said she had to purse my lips to get me to feed. It worked well, thank God. As began to talk my speech was affected also. Not being able to bring my lips together to sound out some words was difficult. I adjusted and did well.
When I was around 33 years old I saw an article in our local paper that talked about a girl with a very rare syndrome called Moebius Syndrome. After seeing the article I contacted the Moebius Syndrome Foundation and realized I wasn't alone. I attended my first Moebius syndrome conference and was just overwhelmed with all the love from other people affected by Moebius. I have attended five conferences and learned so much, talked to many specialists and just enjoyed being with people like me.
This year I was diagnosed with fibromuscular dysplasia (FMD). Now I have two rare syndromes. I must be very special.
I was diagnosed about six months ago with sarcoidosis. About 12 years ago I developed various symptoms: heart palpitations, skin lesions on my lower arms, shortness of breath, with fatigue being the most overwhelming. I couldn't hold the hair dryer up for longer than 30 seconds before having to bring it down to rest. I had an MRI that showed possible white matter disease such as multiple sclerosis. After seeing specialists, one after another, I was told it didn’t appear to be MS but Myasthenia Gravis. But the tests to confirm it were negative.
Another doctor said it was fibromyalgia and I just needed to exercise and lose weight (I am 5'2 and weighed 137 at the time). I began to feel depressed, scared and wondered, "Is it all in my mind?" I took the doctor's advice though, and started exercising and eating healthier and taking multivitamins. Labs showed I was anemic so I started iron supplements as well. After this I began to feel better.
Years passed with no signs I attribute to sarcoidosis until I went for a chest x-ray after having a cold. This doctor saw swollen lymph nodes around lungs and suggested it could be sarcoidosis. I am a nurse but hadn’t read too much about this disease. I work at a VA so we see mostly elderly patients with chronic age-related issues.
I still battle fatigue but at least I know I’m not just lazy or getting old. (By the way, I weigh 121 pounds now and feel like it’s a good weight at age 46.) Like many others diagnosed with rare diseases, I can't describe the relief I felt hearing someone validate and treat my symptoms.
I remember waiting anxiously in my hospital room day after day for the news. I stared out the window as I watched summer turn to fall, and then day into night, and wondered how this could have become my life. Test after test, scan after scan, needle after needle. Anything but cancer, I thought.
And then the words came; the bone marrow and lymph node biopsies all came back negative for lymphoma. It was not the big C after all. Wait, what? After two months being told I had cancer? Not cancer? Then what? Why was this news not making me jump up from my hospital bed and dance around the room for joy? I was still so ill and had no answers. . .after all this time! Still no answers. No, I was NOT happy. I was numb and then angry.
A week later my answer came. Sarcoidosis. What on earth is that? As the days passed and I was passed from one doctor to another, each treating the different areas affected, I was plummeted into stark confusion. I was confused, scared, angry, and tired. When would this madness end? I was very rarely seriously sick before this. I never took much medication and yet here I was now. . .this 48-year-old "invalid." I now saw a pulmonologist, a cardiologist, gastroenterologist, rheumatologist and the list went on. I never knew there were so many "ologists"!
A year and a half later, I am better, yet still sick. Still confused, still scared. Still full of unanswered questions but learning to live with it, to take one day at a time. The not knowing what the future holds is the hardest part. Will I eventually get better? Will I get worse? Will I ever feel like my old self again?
I have more good days than bad days now. Maybe because my attitude has shifted a bit. And yet, I still get angry. Just yesterday, not being able to sleep because the pain in my back and legs and muscles and joints was just too intense to sleep and nothing would ease that pain, the anger came again. The questions of "why" and "how," as the tears burned down my cheeks flooded my head as I tried choking back those tears. Maybe someday I'll know the answers to my questions. Maybe some day.
I've been dealing with chronic medical conditions since my early twenties. I suspect that fibromyalgia developed at the age of just 6 or 7, but it wasn't diagnosed until age 40.
My most dramatic story involves intense headaches that began in my late teens. Doctors were frustrated until the CAT scan was invented. There it was, a hydrocephalic cyst on the right hemisphere of my brain. It was pretty rare back in 1975. Apparently it still is. My wonderful neurologist, who went on to win a Nobel Prize for his research on prions, helped me through a most difficult time of pain, feeling like I was a hypochondriac, and ultimately dealing with brain surgery. Unfortunately, my journey through pain did not stop there.
I typically feel great relief when the puzzle of my pain is finally solved. I can also feel guilty for feeling relieved with a long sought diagnosis, which is a true conundrum. Being diagnosed with fibromuscular dysplasia in February 2015 was a shock. To be honest, I didn't trust my doctors' assurances not to worry. A second opinion helped calm my fear but there is a general nagging concern that FMD could hit me harder, later.
The pain has been one of my greatest teachers. I've learned to trust the pain, rather than beat myself up wondering if I'm crazy. I believe that I feel my pain and its resulting medical condition long before it actually shows up on any scan or test so it's been a real challenge to translate these feelings to doctors who rely on such things for diagnosis.
I was diagnosed with sarcoidosis at the age of 54, in July 2015 after many years of health issues. My position at my job as a retail manager was eliminated after 16 years. I relocated to be closer to aging parents and took a job at a call center, a field I was not trained in.My health problems escalated so much, I couldn't work.
My new ophthalmologist is the one who diagnosed me after hearing I had already had three flareups of uveitis in both eyes. He ordered 16 different lab tests and a chest x-ray. The lab test that came back positive was for sarcoidosis. A bronchoscopy/biopsy was performed and sarcoidosis was found in my lymph nodes near my lungs, I have been told it will eventually spread to my lungs.
My initial reaction when I was given this diagnosis of this rare autoimmune disease was of relief. I felt like I was going crazy because I had all of these symptoms: sleepiness, fatigue, foggy brain, feeling like I was run over by a truck, anxiety, depression, and so much more, but people could not "see" how sick I was. They literally did not believe me. How could they? I didn't understand it myself. Now my doctors believed me although it took going through many doctors to find ones that were caring, compassionate, and willing to go the distance to manage my care.
Now that relief has turned into anger because I am continuing to try to get Social Security Disability Insurance, but not much is known about this disease and how debilitating it is so I have been denied twice and have to wait 12 -18 months for a hearing date, even with an attorney.
I am unable to do the things I used to take for granted: gardening, mowing the lawn, cleaning my house, catering and cooking, reading and making plans to spend time with friends and family, and primarily having a full share in the Christian Ministry, which is my life. All because I never know how I am going to wake up feeling, or I am so exhausted I have to struggle to get out of bed.
My "pity party" has now turned into the hope of making the best of my life as it is and not feeling sorry for myself. I am not going without, I have wonderful friends and family and a strong faith that will help me get through this disabling disease.
In early 2014, when I was 47, I had been fatigued and prone to catching colds. My doctor found I had high blood pressure, but anti-hypertensive drugs had the opposite effect. My blood pressure climbed, I started having palpitations, I woke shaking in the night often, was cripplingly tired, muscles in my chest and neck started seizing up and my heart rate wouldn't come down. I had an echocardiogram, ECG & stress test which all looked okay.I asked the cardiologist, "are you sure I don't have a blocked artery somewhere?" His response: "it is very very very very very unlikely."
Because my heart rate wouldn't come down, I was told I had anxiety. I insisted, "but there's nothing I'm worried about, I'm not anxious in my head." I was told "it's probably subconscious anxiety", so I went to a psychologist, but that didn't help either.
In late 2014, I went on a holiday to Byron Bay, and ended up in the local hospital due to a BP spike.They too thought it was anxiety.
On my return, I asked my doctor for a kidney scan.He looked doubtful but booked one anyway. I could see by the tech's face that she'd found something. It was fibromuscular dysplasia (FMD) of the right renal artery.The artery was almost completely blocked, so my poor kidney was starving for blood supply and causing the chemicals that drive up blood pressure to be produced to get blood through to it. Hence, my body feeling like it was permanently in overdrive.
I called or texted everyone I knew. I was so happy and relieved that what ailed me had been found. My friends said that I sounded like my old self for the first time in ages.
The other really cool thing was that doctors' attitudes to me completely changed. I remember one saying, "You wouldn't believe how many middle-aged women come in here. . ." before trailing off when he realized I was one of them. Afterward, while they didn't know much more than I did about FMD, they were much less dismissive and willing to apply their thinking to what might be going on.
That my FMD was found in eight months is actually quite quick.Many others go undiagnosed for years. I believe there's two reasons it was found quickly.The first is that I had adverse reactions to every anti hypertensive drug that was tried, so my doctors had to keep looking as they couldn't treat me with medication.The second is that I kept going back to my general practitioner and asking to explore different options. In a six-month period, I had over 30 medical appointments and tests. Thankfully, in Australia, pathology is paid for largely by the government, or it would have been cripplingly expensive. As it was it was still very expensive (to me), but I decided to throw everything at it and to keep trying to find an answer.
In 1996, I was enjoying a life that included frequent travel to Europe and Asia. I arrived home after a night of dancing and noticed my calves were very swollen. I had worn cowboy boots and the stitching was imprinted on my skin. I went to sleep only to wake in the morning and discover I had some difficulty moving my body to get out of bed. My legs hit the floor and almost fell out from under me.
I had every test known to man and medicine. I went to doctors at all the best hospitals in Rhode Island and Boston. Nothing. I saw dozens of doctors with great reputations. Still nothing. I had difficulty walking, I was in tremendous pain, I had lost 25 pounds in 3 months, my hands were swollen, my skin was getting thicker and turning a funny sort of gray yet a doctor at a well known hospital in Boston was trying to tell me I was either an alcoholic or it was in my mind. I had on an average 3-4 medical appointments a week.
I refused to have my fingers amputated even though they were black with gangrene from the tips to the second knuckle. This once attractive woman who turned heads in Italy now turned heads as people looked in horror.
By chance while going to an appointment for another test, I ran into an older doctor friend of the family. He looked at me and asked if I knew what was wrong with me. "No, no idea" I said. He knew. Just by looking at me for that one moment he knew. He had me sit in his office while he ran off copies of information for me to read. There it was, finally. My diagnosis. Systemic Scleroderma.
For me, the path to diagnosis was very long and included two ER visits, two hospitalizations, the loss of my livelihood, and an unnecessary surgery, which could have been fatal due to the undiagnosed condition. In August of 2015, I lost my job after 25 years of employment with the same company. The next day I was hospitalized. After a week in the hospital and hundreds of tests, I was finally diagnosed with a rare, life threatening autoimmune disease called Addison’s disease. By this time, I was very near death. Patients with Addison’s disease on average are hospitalized 3 times before being diagnosed; or they die first. Because of its rarity (10 in 1 million), most ER doctors have never had an Addison’s patient come through their doors.
Being diagnosed was a gift and a curse. A gift, because things finally made sense and it was the end of fruitless doctor appointments. I felt redeemed. Then I was terrified when I was discharged from the hospital and the severity of this life-threatening illness started to sink in. I am now steroid-dependent for the rest of my life, but am back to good health and working hard to remain healthy.
My first sign of Ehlers-Danlos Syndrome Hypermobility type (HEDS) came when I was preschool age.I would wake up in the middle of the night crying because my ears hurt.My mom would take me in to my pediatrician , who would look in my ears, pronounce them fine and send me away. After this happened a couple of times, my pediatrician told my mom I was faking ear pain for attention and to treat me with "benign neglect." My mother knew I wasn't faking, so she gave me Tylenol for future episodes.
After my HEDS diagnosis, I realized my childhood ear pain was caused by my jaw dislocating while I slept because of my temporomandibular joint disorder, secondary to HEDS.That same pediatrician diagnosed me with an "unusual presentation of idiopathic scoliosis" at my pre-kindergarten physical, which I also later found out was secondary to HEDS.
The next sign of HEDS came in grade school, when my eyesight changed so quickly that I was sent to an ophthalmologist to check for a brain tumor.When all the tests came back normal, the ophthalmologist wrote "hysterical vision loss" as his diagnosis, meaning that I made it up for attention. But extreme myopia is a known side effect of HEDS.
My knees started bothering me in middle school, and my patellas would slide all over. In high school, I had a bad case of hip bursitis, and was referred to a rheumatologist.She gave me a cortisone injection for the bursitis and diagnosed me with "congenital hypermobility." In college, I had surgery on both knees to help my kneecaps track better. I was on the women's crew team in my freshman year in college, but quit after a year, because my body couldn't take it. I spent more time in the training room getting treatment for my loose shoulders, elbows and knees, than I did rowing.
At the age of 33, during an appointment with my rheumatologist, she brought a medical student with her into the exam room. I was sitting on the exam table with my knees hyperextended and my toes pointed almost straight out, instead of up. The med student asked my rheumatologist if I had been tested for Ehlers-Danlos Syndrome. She answered that she knew I had EDS, and that there was no point in testing for it, because there wasn't a lab test yet for the type I had. She also said that, even if there was a test it would not change the way she treated me, because you can only treat the symptoms of hypermobility.
This was all news to me. I had never heard of EDS before.
I went home and did some research. I found the Ehlers-Danlos National Foundation website, www.ednf.org. It was such a relief to find out that there was a reason for my long list of diagnoses. I wish I had known earlier I wasn't a freak of nature; that I was one of many with an inherited connective tissue disorder. I also figured out that I had inherited HEDS from my maternal grandfather, and that several other family members also have HEDS, although I'm the most hypermobile out of all my affected family members.
Early in 2011 I began experiencing joint pain while walking coupled with swollen feet and ankles and severe knee pain, but after several months the symptoms subsided.
In August 2011 I noticed pain in my wrist when I attempted to type. This was diagnosed as Carpal Tunnel Syndrome, I had the routine release surgery and all went well. Less than a year later, I needed knee surgery. Mind you, I’ve never been in the hospital, had surgery or even a broken or fractured bone in my life before these three surgeries.
My hands began swelling again in April 2012 so I visited my family physician who referred me to a rheumatologist who saved my life. He immediately diagnosed me as having Systemic Scleroderma, which many doctors wouldn't have recognized, but many years ago he had a patient with the condition.
When I read online of the 50 percent mortality rate and how confusing and complex this disease was, I became concerned and scared. I just knew this was not what I had. But I sought out the top specialists.
I remember driving west on HWY 635 around 3:30pm in July 2012 when I received a call from one of the dermatologist experts. She said, “I’ve got some good news and some bad news.” The bad news was that I have systemic scleroderma; the good news was that it was not the very aggressive form.
As I drove, I remember feeling a hand on my shoulder and a warmth and peace, I remember the words, “I’ve got this” in my head. From that day forward I have been blessed with a peace through the entire process to follow.
I looked at the next several years as simply a process and a road I must trek. I don’t think I ever gave up or became depressed for more than a minute or two. Each time I began heading down that road something/someone pulled me back and made me realize how blessed I was. I listened extremely closely to all my doctors from that point forward and joined several forums and tried to educate myself.
I had 54 terrific years, many of them with a wonderful bride, two wonderful kids and two beautiful grandkids! No matter what, I had already been blessed.
My sarcoidosis was found by accident. However the symptoms were there for years! The chronic cough, Skin rashes, Watering eyes, Irregular heartbeat. It wasn’t till after a cancer scare that I found I had this disease.
When nodules were found in my lungs. I was immediately sent for an eyes-to-thighs PET scan. Within days I was told I had metastatic cancer, however, the subsequent biopsy found that it was sarcoidosis. You can imagine my relief! I was told that it was probably in remission and not to worry but to see a lung specialist just in case.
It’s been three years since the diagnosis. My doctor is very good. But other doctors for other parts of the body are not so knowledgeable about the disease.
My lymph nodes seem to be in a constant state of Inflammation. They are swollen and painful every day. When I went to a neurologist to find out if I had neurosarcoidosis, he acted like he never heard of the disease. Because I’m overweight he suggested the numbness in my extremities, brain fog, and nerve pain in my legs were the onset of diabetes.
I’m glad I don’t have cancer, but there are times when I’d welcome at least having a disease that is treatable instead of one they only medicate to keep the symptoms at bay.
That’s what it boils down to: taking medications that make you feel worse to keep from getting worse. I’ve opted to not take anything. I can’t afford the breathing medications. So why take the Methotrexate? Why take anything? I hope that someday they will find a cure for this disease.
I am a 53-year-old woman who began to experience symptoms at the age of 50.
My symptoms didn't seem to quite match up with anything any doctor could figure out, but they kept getting worse.
I figured out all on my own that it was Wilson's disease, but the fact that this is a rare disease made it an uphill struggle to find the right doctor. The testing for Wilson's disease defies what is "normal" in medicine. A negative finding does not rule OUT the disease, but many doctors feel that it does.
Long story short, I finally did get the diagnosis. I was elated. Even though it is fatal. I fought long and hard to seek why I was sick, and it was a complete victory to finally know why.
But so many doctors told me I was "healthy and well," it led to the assumption that my symptoms were "all in my head.” Because of this, I lost my entire family: my husband, children, siblings and father. The stress of my illness tore us to shreds.
Doctors have so much power. And it's a power that they misuse a lot of times. Many, many people automatically trust what a doctor says.
But a patient who is sick with a rare disease needs to almost become a doctor themselves. Each time I had to fight, I was fighting for more than just myself. I was fighting for the next person in line behind me, with the hopes that they would be heard.
Even though I am very sick, I still feel victorious in receiving my diagnosis.
I always felt I had too many things going on with me, especially as a young person. Back pain, muscle ailments, stomach problems, intestinal issues, the list goes on and on. I used to joke that I had a 70-year-old body. In my 40s, after being incredibly active in fitness for years, I hit a wall like never before.
I complained for years before I found a doctor who looked at the whole picture. She discovered pernicious anemia. It appeared to answer all my questions and regular B-12 shots seemed to solve the problem.Yet a few years later the fatigue and pain crept back in. My doc was baffled and sent me to a rheumatologist, but she was useless. My own doctor was dismayed I had been dismissed and ran the bloodwork she expected the rheumy (as we call them) to do.
Alas – a hint – positive ANA. Something WAS going on and it’s autoimmune. I initially felt relieved. Relieved that I wasn’t nuts – even though my doc never treated me that way. Then reality set in: This was real. How do we fix it? Can we fix it?
After waiting months to see a specialist who spent a very thorough hour and half with my husband and me, he summed it all up: “You have undifferentiated mixed connective tissue disease,” which is UCTD for short. I was shocked! I really didn’t expect to be told I truly had a disease. I thought I was going to keep being told they “didn’t know” or “wait and see.”
Hearing ‘it’ had a name was upsetting. Learning that so many scary ‘things’ were now a real possibility IS STILL terrifying. I think it’s even worse because I don’t know which one. I feel like I’m in this horrible limbo waiting for the ax to fall.
Almost 20 years ago I had a serious bike accident. A car opened its door into my path.The only thing I remember from that day is getting up in the morning at 8 a.m. and them coming out of a CAT scanner in the emergency room later that afternoon.
Because I had a head injury I was getting follow up from a neurologist.He was puzzled that I had no reflexes. He ran a nerve conduction study and found I had almost no nerve conduction in my arms. He started running tests for all kinds of serious conditions like ALS.
I knew there was something wrong since I had severe fatigue, but decided not to pursue a diagnosis. A side effect of the accident is my athletic performance worsened overnight. I went from a 7:30 running pace to a 10:30 overnight.
A few years later my dad, who had terrible club feet, and always had difficulty walking, went to the doctor because he had no feeling in his feet. When he retired at age 60, he built a first floor bedroom because he could no longer climb stairs in his retirement home. The doctor told him he had a genetic neurological condition and not to worry what it was called since there was no treatment and no cure.
Four years ago I got an email that changed my life. My sister e-mailed me to say that two of her girls were diagnosed with Charcot-Marie-Tooth (CMT). My youngest niece was diagnosed through genetic testing at the Children's Hospital of Philadelphia. Two of my nieces had frequent falls and had broken bones in their feet.
I went to the internet to learn about CMT and as I read through the symptoms I recognized issues that had also plagued me throughout my life; ankle sprains, tight calf muscles, being cold, severe fatigue.
I got a referral to be tested and got my own diagnosis of CMT type 1 A. I was amazed that as many people have CMT as have MS yet even my own referring doctor had never heard of it. When I found out I had CMT I was happy I finally had the answer to my life long symptoms. I vowed to run the Boston Marathon to raise awareness of CMT. I knew I was blessed to still be able to run and be active when so many others struggle with everyday tasks.
I wrote about my experience in my book, "Running for My Life- Winning for CMT." Along the way I started Team CMT to raise awareness of this condition. I have competed at races all around the country. That includes 9 national championships. I was even a member of Team USA for the Aquathlon World Championship in Chicago in 2015. In 2016 I will again be a member of Team USA at the Aquathlon World Championships in Cozumel. I also qualified for the US Team for Long Course Duathlon in Switzerland.
I am more of a triathlete and cyclist these days due to the advance of my CMT, but I am still active and grateful that I know I have CMT.