Patient Stories

Swiss Expressionist Painter Cause of Death – scleroderma, a disease that slowly mummifies its victims. In 1935 Klee was diagnosed with scleroderma, a chronic connective tissue disease generally classified as a autoimmune rheumatic disease. Klee’s production slowed noticeably as scleroderma began to take it’s frightening hold. His art-work began to transform from light and joyful to murky and echoing, as if questioning the meaning of his own life.   Paul Klee was one of the most impressive painters of the Expressionist Movement. He painted with sensitive passion, creating emotionally powerful images with pure color and astonishing originality. Klee asserted “Beauty is as relative as light and dark. Thus, there exists no beautiful woman, none at all, because you are never certain that a still far more beautiful woman will not appear and completely shame the supposed beauty of the first..” Expressionist painters looked inward, relying on their own emotions, and less on the outside world. Many artists of the Expressionist generation grew up on the battlefield, witnessing wartime atrocities and returning to war ravaged countries.
Why after 260 years is it so important to raise Scleroderma awareness now? Answer: the earlier a patient gets diagnosed is extremely important for treating the symptoms before Collagen build-up causes irreversible damage to internal organs affecting the patients quality of life. With social media, patients are discovering they are not alone but finding a doctor who is knowledgeable about Scleroderma is a world-wide dilemma. Raising awareness will help patients and doctors realize there are more patients living with Scleroderma than ever before and Scleroderma is not “rare”, it is “unknown”. How can you help? http://www.sclerodermaangel.org or http://www.sclerodermasupport.org or http://www.relief-foundation.org for information on how to get involved in helping patients raise awareness. Every patient needs you to donate money, time or your expertise but PLEASE get involved in helping. Thank you!

 

Scleroderma patients mostly died from renal failure until the late 1970’s when they started treating the kidneys which kept patients alive long enough for them to die from lung issues caused by Scleroderma then the medical field started treating lungs, heart, esophagus and other symptoms. It can take a few years to get  diagnosed with Scleroderma depending on where a patient lives. Scleroderma patients have gastrointestinal tract issues, esophagus swallowing issues, acid reflux and can lead to serious damage. Scleroderma causes PAH (pulmonary arterial hypertension) in the lungs and/or Pulmonary Fibrosis (incurable) the only solution is a lung transplant. Most patients have hiatal hernia also causing heartburn and are advised not to lay flat when sleeping (raise head of bed) because the acid reflux can splay over into the lungs causing more damage and making it harder for the heart to work properly so it is not uncommon for Scleroderma patients to have serious heart issues also. Scleroderma changes a patient’s quality of life as you can imagine just dealing with one of these internal aspects of this disease. No wonder the medical field doesn’t like to take the disease on!

It’s very rare for me to post anything personal on this page. But I am posting this in hope that people will share it and raise awareness about a rare illness that people are literally dying for a cure. This is my story. My name is Sarah, I’m a 25 year old mother from Perth. About 2 years ago, my life was turned upside down when I was struck by a rare illness. My back started to ache, and my mobility reduced rapidly. I constantly had  heartburn and reflux that caused me to throw up any thing And everything I ate or drank. Headaches came daily and my body constantly felt numb and tingly. I went to a few doctors over about 6 months, all of whom ran tests and couldn’t find anything abnormal. I had to use a walking stick to get around because my back and legs were so bad. One doctor told me it was all in my head. It wasn’t until the skin on my back had discoloured and started to sink in that a gp sent me to a specialist at Murdoch hospital. As I sat in his room talking to him and he was reading my file, he had this look on his face that he thought I was making it all up, which made me very angry because I know my body, and I knew there was something wrong. He looked at my back and felt my spine. He said that the marks on my back were nothing serious but he would do a biopsy “if I wanted” just to put my mind at ease. I had a skin biopsy, a muscle biopsy, and more blood tests. I waited 5 days for the results and went back to the specialist at Murdoch for the results. The doctor sat me down and straight away I knew it wasn’t good news. He had a big text book in front of him and he opened it to a page that had diagrams and pictures of people with the same marks on their body as mine. Then he read me my diagnosis straight from a text book. Without compassion or any feeling behind it, he said ” you have a disease called scleroderma, the form you have is diffuse systemic sclerosis. It attacks your skin, muscles, organs and bones, unfortunately the life expectancy of some one with your condition after onset is approximately 5 years.” As I sat there in absolute silence trying to digest what he had just said and the way he said it like it was  nothing. I just kept thinking of my baby boy. This couldn’t be right. I am too young to be dying. I asked what treatment was available and he said none, There is no cure for this disease. Sometimes a type of chemotherapy can be used to slow the progression, but its not guaranteed to work. My emotions were indescribable. I just couldn’t believe that this was happening to me. Since being diagnosed my body has been affected in many ways. My digestive tract doesn’t function properly any more with has caused me to have GERD- gastro oesophageal reflux disease.   I’ve had a benign lump removed from my head. The scans revealed another at the base of my spine which is inoperable because the roots are wrapped up with my spinal cord and removing it could cause paralysis. My kidneys have been affected causing me to have nephrocalcinosis.. A condition were your kidneys calcify, and stop working properly which can lead to complete kidney failure, and when both kidneys are affected, if they fail so does the heart. I have fibrosis of my blood vessels which causes tears and haemorrhages, which I have behind my right eye. My discs in my lower back have bulged and herniated, and my spinal bones have started to wear away, which I now need to see a surgeon for. I have problems with my joints, particularly my wrists and my ankles, where the cartilage is being worn away or calcified more than any other joint. Some days it’s a physical struggle to get out of bed, or dress my son, who doesn’t understand why mummy doesn’t pick him up like I used to. Having this illness has really made me think about the way I live my life. The people who really are important to me, and what sort of life I will live, no matter the length. I will never stop fighting, I will never give up. I am determined to raise awareness so hopefully one day a cure will be found. June is scleroderma awareness month, and I’m praying for a miracle. That the community will get involved and help raise awareness about one of the most deadliest and incurable diseases that people every day are fighting. Please take a moment to support Scleroderma awareness month. June 2013. Each day we come closer to a cure. Thank you for taking the time to read my story.
73

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Scleroderma – A Male Perspective
My initial questions and apprehension centered on the circumstances of what was happening to my hands in the summer of 2002. My fingers were turning white, numb and I was developing painful tender open sores on my fingers tips. My job with the United States Postal Service starting in 1998, involved manually handling mail pieces; often thousands of letters during an 8-10 hour work shift, aligning the edges on a vibrating belt for automation machine processing. My hands and fingers were routinely exposed to the jogger belt; but none of this work exposure occurred to me at the time, as a being a cause of the white blanched fingers. The USPS building interior was warm, so coldness and temperature was not an issue, or perceived as causing the numbness. Often the white fingers felt dead and without feeling; though they would eventually return to a bright pink or red color. Accompanying the return of color was usually a deep, throbbing, aching, and excruciating pain that can only be likened to the sensation and pain of shutting a car door on ones hand or foot. An extremely agonizing and painful experience! I first visited a general family practitioner who was unsure of the conditions’causing me problems, he referred a rheumatologist, and after an initial examination and some blood work the words Raynaud Phenomenon, Scleroderma and Systemic Sclerosis entered my vocabulary and my life. Scleroderma? What the hell is scleroderma? And why am I experiencing some first time sexual problems and concerns? This evaluation and assessment of the diagnosis and the ensuing prognosis appeared almost as a virtual death sentence. My prospects toward a potentially long life were clouded by severe doubt and living was fading away. The future looked bleak. As a healthy, viral, sexually active, 48 year old husband and father; why was I experiencing these “new” challenges and what the hell was going on with my hands and these sores on my fingers? The rheumatologist told me scleroderma was a somewhat rare autoimmune arthritic condition, resulting in a hardening of the skin and the development of excess collagen. Okay, now I know a little something about this scleroderma disease or condition; does this have anything to with my sexual problems? What do you mean you don’t know? You’re the doctor, you must know? You’re a medical professional, you are trained to help patients, answer questions and save lives. Again, why don’t you know what is wrong with me and what do you mean you don’t think the 1m has anything to do with scleroderma? What do you mean it is organic’! Here is a prescription for Viagra and see me in a week. A week later we switched to cialis followed by Levitra and even some Revatio. None of this Sildenafil citrate seemed to have any benefits with the ED problem« Raynaud’s were improving with the Sildenafil acting as a vasodilator in the problems with my fingers. During those past several weeks I had learned much more the disease of scleroderma and some of the possible concerns und circumstances to be aware of. First and foremost I learned scleroderma affects women much more frequently than men, perhaps a ratio of 80% females as compared to 20% for males.
Not that I wish to appear unsympathetic or sexist to women’s concerns on health issues but from a male’s point of view – this really sucks! I certainly feel compassion and concern for all those that must endure the challenges of scleroderma but my selfish side was in charge of my feelings back then. Please accept my sincere apologies if this angry ranting offends you.
Wonderful, great, I have “some women’s” disease – what the hell? I have some chronic female disease; and my rheumatologist doesn’t seem very knowledgeable about this condition and every thing I read and see on the internet scares the hell out of me. And ED too! Yes, as I learned scleroderma in men can cause problems with ED due to blood restrictions to arteries and capillaries along wlth the development of excess collagen. Now I am truly angry and mad and ask silently and aloud “why me”? “Why me?” Scleroderma castrated me! I can handle tightening skin, bent fingers and the gastro esophageal reflux challenges but not the ED. I feel victimized! It is bad enough to have this terrible women’s condition but this “thing” has robbed me of my manliness too! How can this be? As a male, scleroderma stripped me of my dignity and it was difficult to still feel adequate as a man and as a lover! What did I do to cause this? How could I have prevented this? What can I do to make it go away? How can I cure this condition? And how can I regain my manhood? The essence of masculinity and well being had been torn from my life and replaced with this effeminate inequality.

Will friends and family understand that I share this disease with women? Will others stare or laugh? I tried denial but reality always resurfaced. Is this scleroderma thing like getting a feminine diagnosis for breast cancer? I am embarrassed now to be a guy sometimes. I feel hollow and no longer a man. I mourn my lost virility! A guy shouldn’t get this and you sure don’t want to admit to having a female condition, especially some condition that causes erectile dysfunction. This “girlie disease is not some condition a man can proudly display on his sleeve like some well earned war wound or badge of honor; to share with the world of men. I cannot just proclaim “see I survived this terrible thing”. No, give me some manly affliction like prostate cancer that my fellow males equally fear and can relate to. (Some years later I was diagnosed with prostate cancer, which also was difficult to cope with too, but there seemed to be a cure and the ability to rid the cancer from my body.
Surgery can not remove my scleroderma. Scleroderma is not something I am proud to say I have. Quietly, I grieve for my lost quality of life, as I yearn to be a true man again. My male ego was severely wounded; it has taken years to attempt to balance my feelings and emotions. Some day’s scleroderma gets me down but now a days I try to remain upbeat and positive for the future.
Yes, my anger caused me some depression about my life situation and I still become disheartened and withdrawn as the reality of scleroderma ebbs and flows within me. My anger has often turned more to embarrassment, as I have come to accept my women’s disease. It is difficult to be proud or pleased with scleroderma …
At this stage of my life with scleroderma, I hope to maybe be able to support other men who also have been diagnosed and distressed with this terrible disease. Maybe I would Ican share one man’s male perspective, if it helps other’s to better cope.
For all people dealing with the challenges of scleroderma, it can be a difficult path and all of us with this condition have shared many of the same ups and downs of this journey. But for men the heartbreak of this journey and the conditions encountered
along the road can create poignant and profound self doubts that are deep and difficult to grasp in terms of a man suffering with scleroderma. At this point in my journey, I gain strength, courage, empathy and fellowship from local support group members here in Central Oregon. But from a lone male perspective, I endure a quiet desperation as a man succumbing to the absence of true understanding and compassion.
It is truly lonely being a man with scleroderma.

Identity Theft !!! Scleroderma has stolen the life I once knew & had.. I went from working a career that I enjoyed, and being able to do most any thing I wanted to, until I started becoming sicker & sicker . While at work I was barely making it through the day and at times my supervisor would have to send someone else out to finish my job because I would become to ill, when not at work I would just find myself staying home more & more and turning down invitations from friends & family to go out to dinner,etc. For several years I went from one doctor to the next and none of them could tell me what was going on with me. Back in 2005 my then physician ran some labs, I recall her doing one called a ANA panel, it came back highly elevated , so she ruled out Lupus. Meanwhile I keep trying to push myself through each day, just taking a shower exhausted me, I was having more & more difficulty doing normal everyday activities and started having more symptoms that I was to young to have, like extreme morning stiffness, trouble swallowing, fingers and toes changing colors, memory fogs,persistent nausea, terrible heartburn & GI pain, I had to have my Gallbladder removed and it was totally diseased, I had to have a Hysterectomy, my Spine started hurting, finally started seeing a doctor for it, MRIs showed I had degenerative disc disease , a Bone Density reveled I had osteoarthritis . Over the past six years I was becoming more ill !! Finally September 2010 I went to a new Rheumatologist , he told me I had Fibromyalgia and also ran a series of labs and x-rays a few days later his nurse called me and explained the results, she said I have Limited SS Scleroderma also known as CREST and that there isn’t a cure nor treatment for it and that I could go on line to learn more. I was relieved to finally know what was going on , but at the same time somewhat in shock, I had never heard of such a disease call SCLERODERMA , once I went on line and learned what SCLERODERMA IS, I was so lost and frightened, until I came across a name, Chuck Bonelli when I was searching for some support, he accepted my friend request, that’s when I learned his wife Carolina has Scleroderma . Chuck got me connected to Ann Havelock with the Scleroderma Angels, I was no longer so lost, I was connected with people that were actually going through the same thing I was !! I had people who understood how I felt & feel. SCLERODERMA is A RARE AUTO IMMUNE DISEASE that affects more women than men, it’s hard to diagnose, at this time there’s not a Cure or Treatment, however There Are Patients that are working hard to raise Awareness, some have formed special groups for patients, and it’s through those kind, caring, loving, patients I find the strength to get through each day and have HOPE that WE will All Become AWARE OF SCLERODERMA Raise Awareness and Find A Cure,, Thank You For Reading My Story

Written by Kimberly Beason 394728_174204889347647_685598064_n of GA

In the summer of 2007, I developed a rash on the left side of the back of my head and called my GP for an appointment but he had left his practise to be a professor at Emory University. My boss suggested another GP who was able to see me within a couple hours on the day I made the appointment. He said I had shingles, darn I was not happy since I had a bad case of chicken pox at age 26 and now this, it passed and nothing to it. He tested me for different stuff and I had pillory bacteria so he put me on medication but also wanted me to go on cholesterol medicine. When I asked for the numbers, he wouldn’t respond and my trust started fading. That winter I felt a horrible pain in my jaw that stayed with me for a long time and began my ride through this murkiness. Eventually my voice changed, my feet and hands became so puffy, I had to stop wearing my wedding rings and other rings. My new GP sent me to an oral surgeon who said nothing was wrong but gave me pain medication and told me to try not to chew or open my mouth for about 6 weeks and if it didn’t help to come back. It didn’t go away but my dentist offered to refer me to another very good oral surgeon and the doctor said my voice changes were due to reflux and the swelling in my hands and feet were caused by my age so therefor I probably had arthritis. He said “you’ll be fine, no issues”. Well, I quit going to him and started asking my gynecologist for referrals. I wasn’t feeling like myself, I always had a sunny disposition but I lost my puppy and was having a hard time dealing with my loss. The doctor offered to put me on hormones but decided to refer me to a new doctor who was not taking new patients but his receptionist and I share the same zodiac sign and squeezed me in for an appointment. This doctor said you are so healthy and everything looked great but I still don’t feel well. He decided to do an EKG after I informed him that every so often, I felt chest pains and my heart beat funny. After the test the doctor said he didn’t like the test because two of the lines were a bit funky and it kind of denoted that I might of had a heart attack, probably not but just in case, he wanted me to have a stress test. So I made the appointment to have a stress test but I think from then on my life was never the same. The stress test showed no signs of heart attacks but in the middle of it I had a Raynaud’s attack (although up until then I didn’t know it’s name), always thought no big deal, it will go away and it’ll be fine. My hands turned black and Chuck (my husband) and the technician both freaked out a bit but I tried to assure them that give it a minute and my hands would return to normal. At my next doctor’s appointment we discussed hormone treatment again because we both still thought my voice changes and swelling hands and feet was a hormonal issue. I had been researching my problems but silly me I wasn’t thinking it was as serious as it actually was so the doctor referred me to a vascular surgeon (who turned out to be a jerk but I thank the jerk because of his lack of care, I ended up being taken care of). He tested my fingers with little blood pressure cuffs to see how they responded to heat and cold. The tech doing the test was so scared watching my fingers that she wanted to stop the testing but I told her to continue because I didn’t want to come back another day. She asked me if I had Lupus, I had heard of it but didn’t really know what it entailed. Went back for the results but guess the surgeon was too busy to see little old me, he sent his assistant to tell me they couldn’t do anything for me but if my fingers ever stayed black for a day or so, then come back and he would help, also take a baby aspirin everyday in case I had loose little clots running about my circulatory system. Went back to my other GP told him what they said and he tried to assure me that the jerk was very good and he still trusted his judgement but would be willing to send me to another specialist that might be able to help me. Went to my first Rheumatologist on June 25, 2010 with Chuck and was diagnosed one hour after hearing my symptoms and issues and answering his questions. He stood by his desk, propped his left foot on his desk’s chair, put his right hand on his waist and with his left hand pointed upward and said “I believe you have Scleroderma” the Crest version. Chuck and I replied, we weren’t familiar with this disease so he gave us a couple of sites on the internet for researching Scleroderma. Then he told us, there is no cure and it would advance until it would kill me. The story continues to grow, since that day this Rheumatologist has been fired, when he told me he had no time to discuss my many issues, that I needed to pick 2 or 3 issues and make sure they were the important ones. Since, I still haven’t attended medical school to choose which issues are important or not, we decided to find us a Rheumatologist that can help us a bit through this labyrinth. I think the best part of this is that I’ve gotten to meet a bunch of the coolest people, I don’t know if it’s the attitude of “what do I have to lose?” that makes us more open to other Sclerodermias or what, but its been a better ride because of y’all.   Written by Carolina BonelliCarolina Bonelli in GA

11 years ago woke up and felt as though I’d been hit in the nose. I had 2 root Canal’s done and thought it might have something to do with that so I went to see the dentist, it might be Trigeminal Neuralgia but that was ruled out later. I had numbness on both sides of my face . it wasn’t Bells Palsy he sent me to an ENT DR. They found nothing off, saw a Neurologist, she’s the one that noticed my Raynaud’s . She did an EMG. I had got down to 129 lbs and they put me in the hospital . 9 days there before they came back with a diagnosis of MCTD. i had no insurance so they kicked me out. After that the Sclero hit me. That was in 2008 and That’s the year I flied for SSI which took 19 months to get. It’s rare for men to get this, one in 10,000. I have 7 autoimmune diseases and take drugs to control it. Medicaid pays for most of the drugs, I’m blessed with family and friends or I wouldn’t have made it , I have friends that are worse than me.
Michael Nesbitt’s story

My encounter with Scleroderma

In December 2005 the pain in my feet while lying down in the night started. Gradually it became so worse that I used to cry due to pain every night. I had to tighten my feet with the ropes to stop the pain. Then I decided to go a GP, who diagnosed me with high Uric Acid in the blood and started the treatment. He advised me to stop taking high protein diets, like pulses and dairy products. Neither this nor the medicines helped me at all. The pain continued to make me cry every night. After 18 months of no improvement in the pain, my GP advised me to go to a rheumatologist, which I ignored for another 18 months and stopped all the treatment. I started taking pain killers very often, whenever the pain was unbearable.
I had another problem. Besides acute pain, fingers in my hands used to turn blue, white and red in cold weather. I could not touch cold water as it caused sharp pain in my hands. In September 2008, after much suffering for 3 years I finally decided to meet the rheumatologist in the same hospital where my GP used to practice. After hearing my symptoms he straight away diagnosed me with scleroderma and Reynaud’s phenomena. To be doubly sure he suggested a few blood tests which came positive and my treatment started.
After a year or so I started having dry cough while lying down, which was diagnosed as Interstitial Lung Disease (ILD). I had to consult a pulmonologist (in consultation with my rheumatologist) who suggested PFT to be done annually and to take 2 puffs of inhaler twice a day. My voice was becoming hoarse and I had to clear my throat time to time. I went to the ENT specialist who diagnosed it as Laryngopharyngeal Reflux Disease (LPRD) and the medicines for acid reflux also started. I want to add here that I have had open heart surgery for Mitral Valve Replacement (MVR) done in April 2001. Also I was diagnosed with Bipolar Mood Disorder in August 2012.
It has been now 4.5 years, since my treatment started. I am in contact with 5 specialist doctors. I have to take regular medicines for Scleroderma, ILD, LPRD, heart and bipolar. Regular tests (monthly, quarterly, annually) are done to keep an eye on the improvement of the conditions and side effects of the medicines.
Scleroderma seems to have been in control. Hopefully, the progression of the disease has stopped. The medicines are minimum (I insist every time I go to the doctor to keep the medicines on the minimum, never the less, I have to take 12 tablets daily plus 3 tea spoon of syrup and 2 puffs of inhaler twice a day). I am a fighter. Though the opponent is much stronger than me and the weapons I have, are not good enough to kill him, I will never leave the battle. I have the full support of my family, friends and a team of doctors in the fight against this dreadful disease. I am sure that some day we will find a cure.
Written by a female Scleroderma Warrior

In 2002 both my daughters got pregnant,, worse things can happen I know, then one got anti natal depression, I know that normally happens after the birth not while you are pregnant ,, the other one discovered there was something wrong with the baby, I went to every appointment with them both,, I was worn out by the time the babies arrived,, but it wasn’t over, my daughter got over her depression when the baby arrived, the other one well her problems were just starting,, we knew the baby had problems, we had looked into what she had, we had one our research, but the baby wasn’t feeding properly so my girl took her to the hospital, I was there with her sister in labor, I went to see her on the children’s ward, were the doctors discovered a lump on the babies head, it was there when she was born, but maternity hadn’t noted it down, and they wouldn’t say they had seen it, so my poor daughter was accused of child abuse, social services stepped in, they took our new baby away from us, put her in care, we were devastated,, they put her in care, then my sister was allowed to look after her,, my sister grew attached to her, all hell let loose, she was trying her hardest to keep our baby,, my daughter was rebelling against her and the authorities, she ended up having to live in a mother and baby unit miles away from us, but she had her baby, it took 12 months a whole year to get it sorted out, we won on evidence we gave to them, it just took them forever to get it sorted properly, she sued them for it,,, but once everything was sorted out I started to notice changes, pains too and even strange lumps,, my hands were changing color = Raynaud’s, lumps on my elbow = calcium, pain in my shoulder also = calcium, by the time I got to the right doctor (Rheumatologist) it was 2006 and he diagnosed me straight away, yay I thought now I know what I have, not realizing I had I a life threatening disease, but I truly believe my Scleroderma was brought on by stress, it was dormant for years then bam, one problem after another and Scleroderma reared it’s ugly head, I had noticed other things in the past, like calcium deposits in an awkward place, at the time I didn’t know what they were and to embarrassed to mention it to the Doctor but you live and learn, so 7 yrs on it has gradually gotten worse, I really do consider myself better off than others, I am lucky well luckier than some.
Liz Ledbetter from the U.K.

What we plan with thoughts and actions for our future so we can enjoy retirement/older age, right? Life can change drastically when a rare, incurable disease such as Systemic Scleroderma attacks our bodies without warning! My life started changing in Fall 07 in my hands, progressing fast to include weak/painful muscles, swelling, loss of range of motion and depression until 3/30/09 diagnosed with Systemic Diffuse Scleroderma which no one has ever heard of until diagnosed and adding insult to injury, neither have most doctors, leaving patients to fend for themselves on how to find treatment for symptoms because Scleroderma cannot be treated as yet. Most Scleroderma patients look normal in appearance but the damage is extensive on the inside of our bodies, stage 4 kidney disease, hiatal hernia, pulmonary fibrosis, aneurysm in heart, GI issues, skin changes and Raynaud’s in hands & feet are just a few of my Scleroderma challenges. I am one of the more functionable patients and grateful I have doctors who care and support from Sweetheart, family and friends. Some patients don’t have either doctors nor support and rely on facebook Scleroderma chat groups for advice, love and support from people who relate and understand what they are experiencing. My life has changed dramatically from 5 1/2 yrs ago and I am grateful for my Scleroderma journey because the more I reach out to others the more rewarding my life has become. I am a patient advocate helping to educate and promote public and medical awareness of the desperate need to recognise Scleroderma as the life threatening disease it is. Scleroderma was first documented 260 yrs. ago, now we want awareness to help alleviate the horrible suffering this disease causes physically, mentally and emotionally. Please help. http://www.sclerodermaangel.org

Diagnosis Odyssey

The long wait

Ann Havelock spent about a year and a half meeting with physicians about her symptoms before she was given a diagnosis.
It took more than a year — and nearly half a dozen doctors — to figure out why Ann Havelock’s hands hurt.

Her pain began in fall 2007, when the then 67-year-old was helping her husband put a storm door on their Crooked River Ranch home. It wasn’t cold out, she said, but her hands felt frigid. She brushed off the episode.

Soon, however, her hands started to ache so badly she couldn’t ignore the pain. As a hair stylist in Bend, she worked all day, then came home and wrapped her hands in a hot pad. They hurt constantly.

“It got to the point where I hated to go anywhere, except go to work,” Havelock said. “I didn’t want to go to church. It was just miserable driving, doing anything other than just crawling into myself and trying to retreat into sleep to get rid of the pain.”

Havelock first went to see her primary care doctor. When he couldn’t figure out what was wrong, he referred her to another doctor, then another and another and another and another. Each time, leaving without answers, Havelock became more frustrated. The typically upbeat woman fell into depression. She cried, she said, nearly every morning.

Though her disease is uncommon, her ordeal is not. The diagnosis of disease is not an exact science and, especially when the disease is rare, it often takes several physicians to figure out what’s wrong. People will live with pain or other symptoms for years, sometimes a decade or more, before they know what’s wrong.

Even the best doctors can find diagnoses difficult. Symptoms of many diseases are vague or common to many illnesses. Many disorders do not have a test that can give sure answers. And, a patient may have something so rare that a doctor has not seen it since medical school, if at all.

There are no estimates of how often a patient leaves a doctor’s office without a diagnosis, but both physicians and other experts say it happens often.

“Frequently, it’s not like there’s this clear entity” that can be easily diagnosed, said Dr. Michael Feldman, a nephrologist at Bend Memorial Clinic who saw Havelock. “It’s very typical that you have this multi-system complaint and there have been a lot of negative tests and a lot of frustration along the way.”

The problem is particularly acute with rare disorders because, by definition, most doctors have less experience with them. In addition, physicians’ training often teaches them to look for the likeliest explanation, said Stefanie Putkowski, a registered nurse at the National Organization for Rare Disorders.

“Medical students are taught when they hear hoofbeats, think horses, not zebras. And, from our perspective, sometimes they need to think zebras.”

Doctor to doctor

Havelock first saw her primary care physician, Dr. Alan Hilles, for her hand pain in March 2008.

Havelock’s medical records from that visit suggest Hilles thought she had fractured or sprained her wrist; he ordered an X-ray of her wrist and over-the-counter pain medications.

The medications didn’t help, Havelock said. She was back less than a month later and again a few weeks after that without a firm diagnosis. Hilles referred her to Feldman, according to medical records, for the pain in her hands and, because she had previously been a kidney donor, for possible complications of having just one kidney.

Feldman suspected complex regional pain syndrome, a chronic pain condition with an unknown cause. “She had this funny pain syndrome in her hands,” he said. “It fit nicely” with the pain syndrome diagnosis. He put her on an antidepressant that is also prescribed for pain. Havelock said that did not work. “After two months, I was so depressed and I was swollen so bad,” she said. “I weaned myself off the antidepressant, and I didn’t go back to him.” Someone suggested to her she try a neurologist. She did, in Bend in July 2008. Her patient history notes a series of seemingly unrelated symptoms: burning sensation in her hands, a wrist injury with no evidence of fracture, possible complications of living with one kidney and perhaps even an allergy to ibuprofen. Her medical records suggest nothing stood out besides the pain.
That, doctors said, can make a diagnosis difficult.

“Medicine is pattern recognition,” said Feldman. Doctors look for groups of symptoms that suggest a disorder, then test to confirm or exclude specific diagnoses. Where there’s no pattern, the diagnosis comes slower.

For the patient, that can be agonizing. “It’s very, very stressful,” said Putkowski. “People in that time period (before a diagnosis) often can’t work because they are so ill. It impacts people in every way possible.”

Havelock was growing frustrated. “By that time, I feel like I’m getting the runaround because here’s three doctors so far and I’m not getting anywhere.” Medical records indicate that she see a rheumatologist, who would be able make a firm diagnosis of scleroderma.
A diagnosis
Havelock took a break from the physician merry-go-round that fall, and her medical records indicate she didn’t see Hilles again until December. A few weeks later, at a follow-up visit, Hilles noted that she was “distraught” over not getting a diagnosis. He referred her to another doctor, an endocrinologist.

That visit did not result in a diagnosis or meaningful new findings.

“Every blood test came back normal,” Havelock said. “But at the same time, I knew it wasn’t all in my head. ~ I may have had one symptom of this disease, two or three symptoms of that disease, but not enough symptoms of any one disease to fit.”

In March, she made another trip to another physician’s office. This time she saw Tianna Welch, a physician assistant who specializes in rheumatology.

As soon as Welch saw her, she said, she knew what was wrong. “People with scleroderma just kind of have a certain appearance,” she said. “I suspected it pretty much right off the bat.”

On March 30 of this year, more than a year and a half after the beginning of her symptoms, Havelock finally had her diagnosis. She had scleroderma, a disease characterized by a hardening and tightening of the skin.

That tightening of the skin, which had grown worse and more visible since she first started seeking a diagnosis, was key to the diagnosis, said Welch. “You kind of lose the elasticity. It becomes harder,” she said. “When you pinch (normal) skin it molds and it moves around. This one, it doesn’t want to do that as much. It’s tight.”

Scleroderma is a rare disease in which the body produces too much collagen, the protein that gives skin structure and strength. As it did with Havelock, it often causes pain, swelling, tightening and even an exaggerated response to cold temperatures – known as Raynaud’s phenomenon – that Havelock first experienced when installing the storm door.

There are two primary types of scleroderma: localized scleroderma, which just affects the skin, and systemic scleroderma, which can involve blood vessels and internal organs, including the lungs or kidneys. Havelock has the second type, often considered more serious, though individual cases vary widely.

There are about 300,000 people in the United States with scleroderma; about one-third of them have systemic scleroderma.

Havelock did not feel relief at having been given her diagnosis. “It hit me because the pain that I was going through and the swelling that I was going through for almost two years now, and I finally get an answer and it’s not a good one. It’s a bad one.”

She misread an information sheet she was given, thinking it indicated there was a good chance she would die soon. She crumpled, she said. “I just lost it.”
Living with scleroderma

Scleroderma can be particularly difficult to diagnose, said Dr. Greg Borstad, a rheumatologist at BMC who recently began seeing Havelock. The disease is rare, he said, and many of the symptoms are similar to other, more common disorders. A year or two to diagnosis “is almost average, unfortunately.”

There is no treatment for scleroderma. The only thing that can be done is alleviating symptoms. “You’re sort of left treating whatever the complication is,” said Borstad.

For Havelock, that means several medications to control pain, swelling and blood pressure.
Havelock is stable now. But just after being diagnosed, she had an episode with her kidney, a complication of scleroderma, that put her in the hospital for several nights. She was heading toward kidney failure, said Feldman, who treated her during that episode, but she pulled out of it.

These days, she tries to look at the bright side. The tightening of her skin has taken away the fat on the underside of her arms. “I can wear a tank top without my upper arms waving,” she said, smiling.

Havelock also started a support group, which meets once a month at BMC, for patients with scleroderma. “I will do everything I can to bring awareness to the center for this disease,” she said.

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35 Responses to Patient Stories

  1. I applaud all of you!!! ❤

  2. Gilda Schachter says:

    BRAVE warriors, keep fighting on!!! A cure WILL be found, sooner rather than later. ❤

  3. Diane Appanaitis says:

    I am scared to eath that this may be my answer. I have been searching for a while. my symptoms with my swallowing issue in my throat has changed its getn harder to swallow food. I have stage 3 kidney I am waiting on a referral hopefully I will get in with in the next few wks. my hands ache, hurt and swell. my fingers look fat. my first rhumey said even though my ana was neg he believes its lupus and MCTD , I keep a high heart rate, last dr visit lsat wk it was 140! I have had a high heart rate for many of yrs. I cough alot. clear my throat all the time, I get hoarse with my voice. and my mouth doesnt open up as wide as it used to. headaches to galore, migrains, shakes and I get the inner shakes or vibrating sensations at times. I get rash on chest neck arms and face. Im afraid I have more then scleroderma going on. I also suspect sjograns, my eyes sinusis noes mouth all get really dry. the eyes go from watery to dry. itch like crazy. sinusis get thick mucous. and the list goes on…sorry to bore you. Im scared!!! been tested for allergies, only dust came back pos. but yet I get seasonal allergies all the time. my chest hurts gets tight. heart palpitaions out of my chest at times. major depressive disorder. thats been under control now. anxiety and panic attacks. I just seen a 3rd rhumey. he more less acted like I didnt know what I was tlaking about. why is it that these DRs dont want to take your word or the word from previous rhuey that you have lupus? I dont get this at all!!!! its like they are scared of this dx!!! I go back to the first rhumey the 18th I am hoping to get some answers and to find out what has caused my kidney disease. thank you for reading an listening to me. IM venting…..your stories I needed to read. thank you for telling them! BTW I have an aut who has scleroderma and lupus. she is now in her 80’s have had it alonnnng time!! she is still around!!! and as loud as ever!! lol….hang in there!!! thx Diane A.

    • So sorry Diane for your pain/suffering Many of us walk in your shoes and it is not easy. I personally know people who have lived with Scleroderma for over 30 odd years. I believe it depends on attitude especially with a positive attitude versus a negative pity party attitude which only adds stress making symptoms worse. If I can be of any help, please let me know. Always, Ann

  4. sheila says:

    Hi I m sheila an I hav scleoderma. Raynouds heart problem. Hypertension arthisi sponglouis. I m so depressed. An thanks for shareing your illness

  5. Jenny says:

    Hi I am Jenny. I have been diagnosed with Raynauds. The first doctor said I had MCTD, second doctor Lupus and third doctor Scleroderma. I was told that this is a wait and see what happens disease. Thank you so much for all your stories.

  6. Elizabeth Keani Kobata says:

    I just got diagnosed with systemic sclerosis, your website really helped. I am so lost; and so full of questions right now. Your website, was very helpful.

    • Hi Elizabeth, if you are on facebook and would like to become a part of Scleroderma Angel chat group, you will learn a lot from others from all around the world. Angel hugs and healing prayers Ann Havelock

  7. annie says:

    Hello my name is Joyce and first of all I never respond to anything, but I felt this to be
    important due to the fact most of those stories I can relate to. I was diagnosed with crest in 2012. My onset started with difficulty breathing. After several trips to the doctor with different rounds of
    medications nothing worked and it seemed as if things were getting worse. This started in January 2011. Then in moved and things continued back to the doctor more medication for my breathing, finally I just couldn’t take it any more so I went to the ER there they found a blood clot on my right lung. That shocked me, then I was admitted to the hospital and this is where it all started. They told me about the ana was positive and it could be just about anything. So I have seen several specialists and I was told it could be years before there could be a diagnosis. It was after several months of visiting the rheumatologist that I got the diagnosis that was October 2012. I was put on medication and she wanted to see after a year how things would go. I must admit that I am feeling much better espically my breathing. Just had an appointment last week had a CAT Scah of my lungs and now she has double my dose of medicine but I go to see her in two months, but at fitst she was thinks on reducing or even stopping it. I must admit that this is to some degree depressing especially if you were active and working and now you can still do those things but at a much slower pace. I look forward to my visit with the doctors because some of the stuff you read is terrifying, mnow I think after reading some of the posts and posting this I would like to find a suppot group in Louisiana. I also would like to know how I can bring awareness about this disease

  8. Ernie Wisner says:

    Dont know where to put this so here it is. I am trying to figure out whats going on with my hands and keep getting tossed into this group but i dont think this is the problem. so i will tell the symptoms and maybe they will ring a bell with someone. in the 90’s i was in the military and we where operating out on the Virginia banks, i was ordered to medical because my hands had turned bright red, began to swell and where putting off enough heat to melt snow for about 3 inches away. since that time vibration, impact, Etc. has generated the same symptoms along with intense pain and the appearance of the flesh under the skin looking like the stuffing of a ground pork sausage (sorry thats what it looks like). this is not some sort of arthritis, it doesn’t matter if i put my hands above my heart and pain killers don’t touch it. after a variable period of not using my hands the inflammation goes away the pain drops to a dull ache and the sausage appearance goes away. since i have used my hands to make a living and an injury has me on crutches for mobility this problem has become a bit more important and limiting. I am trying to figure out what it is for a VA claim and am not going to lie about it (the VA is doing just fine on its own) so i am exploring everything and trying to get leads on this condition. thanks in advance.
    Ernie

  9. Kar says:

    I have found reading these stories very helpful. I was diagnosed 10 or more years ago with localised scleroderma and it is only within the last two years that I have gotten a lot worse. I am awaiting confirmation of what is going on now but my blood tests haven’t confirmed anything other than a low positive ANA. So frustrating and I am very scared of what the future holds.

    • I am sorry for your pain/suffering. Fear adds stress which makes our Scleroderma flare up and I personally know several people who have lived a good quality of life with Scleroderma for 30-40 yrs. Attitude, faith and good knowledgeable Dr.’s make a difference. If you would like to join our facebook chat group, please ask to be added to the Scleroderma Angel chat group and meet people from your area and all over the world. Angel hugs with healing prayers

  10. Kingsley Mary says:

    What we plan with thoughts and actions for our future so we can enjoy
    retirement/older age, right? Life can change drastically when a rare,
    incurable disease such as Systemic Scleroderma attacks our bodies without
    warning! My life started changing in Fall 07 in my hands, progressing fast
    to include weak/painful muscles, swelling, loss of range of motion and
    depression until 3/30/09 diagnosed with Systemic Diffuse Scleroderma which
    no one has ever heard of until diagnosed and adding insult to injury,
    neither have most doctors, leaving patients to fend for themselves on how
    to find treatment for symptoms because Scleroderma cannot be treated as
    yet. Most Scleroderma patients look normal in appearance but the damage is
    extensive on the inside of our bodies, stage 4 kidney disease, hiatal
    hernia, pulmonary fibrosis, aneurysm in heart, GI issues, skin changes and
    Raynaud’s in hands & feet are just a few of my Scleroderma challenges. I am
    one of the more functionable patients and grateful I have doctors who care
    and support from Sweetheart, family and friends. Some patients don’t have
    either doctors nor support and rely on facebook Scleroderma chat groups for
    advice, love and support from people who relate and understand what they
    are experiencing. My life has changed dramatically from 5 1/2 yrs ago and I
    am grateful for my Scleroderma journey because the more I reach am grateful for my Scleroderma journey because the more I reach am grateful for my Scleroderma journey because the more I reach am grateful for my Scleroderma journey because the more I reach out to
    others the more rewarding my life has become. I am a patient advocate
    helping to educate and promote public and medical awareness of helping to educate and promote public and medical awareness of helping to educate and promote public and medical awareness of helping to educate and promote public and medical awareness of the
    desperate need to recognise Scleroderma as the life threatening disease it
    is. Scleroderma was first documented 260 yrs. ago, now we want awareness to
    help alleviate t

  11. Torrie Creamer says:

    I have been told I have Raynauds. I have had 3 episodes where my finger turns white, when I got really cold. I don’t have any of the other skin issues. However I have been dealing with left elbow and left shoulder (near my trapezius muscle) pain for the last 4 months. I did work out a lot and lift weights but I have not done so in 2 months. My doctor did confirm Raynauds but told me it is just probley muscle pain or golfers elbow. I did have labwork done ANTI HISTONE ANTIBODY
    ANTI DNA (DBL STRANDED) ABS and ENA (all came back normal) I just had Scleroderma-70 and ANA test done last week and I’m waiting for results. This is making me so nervious and depressed. Reading about having Scleroderma is scaring me so much, with me having this stress I am feeling my chest hurt, (Which I read could be another symptom.) I’m so scared, I don’t want to die. I have 3 kids and I’m married and I have to work along with my husband just to make ends meet. Even if my test come back Normal, I’m still scared with having this Raynauds is early sign of something bigger that will either cripple me or kill me. I’m not feeling any other joint or muscle pain or any swelling or skin issues, I’m praying that this is all just a muscle issue from extreme lifting, that is taking a while to heal. I’m writing this today because I read all of your stories and I pray, pray, pray for a cure and pray that this will not effect my life but I promise from here on out I will be more involved and not take life for granted. I pray that I can be here for my family for a long, long time. I pray for you all to do the same.
    xoxoxo
    Torrie Creamer

  12. sarah marshall says:

    Hi, I am 47yrs and was diagnosed with diffuse systemic sclerosis in feb 2013. I am permanently exhausted, so do very little, am stiff and suffer with burning muscles and joints when used, when I can manage. I have raynauds, acid reflux, disgestion problems, skin hardening all over, tight face and mouth and sensitive teeth, caused by inflammation in face and sinuses. Lung disease causes breathing difficulties and infections. I do what I can when I can and try not to worry about the rest.. For all you sufferers out there, you must try and laugh and smile as much as you can, your bigger and better than any scleraderma.. I know its not easy. Keep going. Be brave….

    Your friend Sarah.x

  13. wife of Male with Scleroderma says:

    This is in response to the male patient who has written his story. You are not alone and my husband has experienced the exact same thing you have. He has Raynaud’s and ED right now with a Mixed Connective Tissue Disease diagnosis (with Scleroderma symptoms). You are not alone! The most heart breaking part right now is the ED. I am in my 30s and my husband in his 40s. Right now we are grieving the loss of this part of our lives. I feel unexplained anger too that my husband hit the jackpot and got a disease that men rarely get. The uncertainty of this disease is driving me crazy (me more than him).

    • I am so sorry. Scleroderma is a very cruel, mean, vicious and painful disease and it is harder for loved ones to deal with than those of us that have it because you can’t fix it. I would suggest counseling and contacting Elaine Furst for advise. Elaine is on facebook and is an RN who with her husband Dr. Dan Furst travel the world helping Scleroderma patients in every aspect because they care. I am 75 been married for 51 yrs. and have the best understanding husband in the world and it isn’t easy for us but we have our faith in GOD and each other and manage to overcome the many challenges. Angel hugs with the power of healing prayers and please contact me if you want. mzannray@hotmail.com

  14. Has anyone with scleroderma found a medicine that has helped the breathing get any better?? We have been to university of chicago and John Hopkins in baltimore and nothing seems to be helping the shortness of breath. Please comment if anyone has gotten this symptom to get better.

    • I have Pulmonary Fibrosis, Pulmonary Hypertension and Interstitial lung inflammation and taking Myfortic 3 times a day to help stop the progression and have hardly any shortness of breath check with Dr. for more information on Myfortic

  15. Thank you so much. We sure will check into it. Do you mind saying what Dr. You go to and from where?? My prayers are so with you and your family!!

    • I live in Central Oregon and have 3 Dr.’s knowledgeable about Scleroderma. Dr. Christina Bright (rheumatologist) Dr. Michael Feldman (nephrologist) and Dr. Jon Brewer (pulmonologist) they are at Bend Memorial Clinic Thank you for your prayers and you guys are in ours. Never ever give up hope. I am on facebook and also have the Scleroderma Angel chat group if you would like to join our group to learn more from over 2500 people worldwide.

      • Thank you for the information. Yes i would like to join the scleroderma angel chat group. This is helping me see that we need a new medical team. They are all nice but making no new changes, they act like there is no hope for my husband.

      • on facebook just type in the search bar scleroderma angel chat group and ask to be added then I will add you

      • My husband is such a fighter, he has almost the same diagnosis as you. He has the instititutional lung disease and pulmonary fibrosis, and emphysema. It is all so horrible. He has always been a very energetic person. He still keeps busy with projects making cabinets, tables, and etc. But he has recently slowed his pace down. You have really motivated me to keep pushing and find a new medical team.

      • Scleroderma and all the challenges it brings with it is the cruelest most horrible disease but as long as we have good knowledgeable Dr.’s and support team, keeping busy with what we can do and keep a positive attitude above all can help our quality of life. there are many times, I struggle with keeping positive but I always remember “this too shall pass” and it does then things get better again. my email is mzannray@hotmail.com if you want to email me also. Always Ann

  16. Jana says:

    Hi my name is Jana Gott I’m from Canada Manitoba, I was diagnosed with scleroderma when I was 23 and I’m 28 today , my body is weak each year seems to get worse , I need help with everything I can’t get up on my own , now I’m on a bed I can’t sit up very long my bones are killing I’ve been to the hospital so many times this year ( 2017 ) , I was reading this story about a young lady on here she said she was diagnosed at the age of 25 , she said it made her realize so much in life and how she use to carry her son which she can’t no more 😦 made me sad because I’m going through exactly the same thing , I got sick after giving birth to my twins and after being home with my 3 kids , I know something was wrong with me I kept going to the doctor he send me for blood work and everything he said their was nothing wrong I cried and told him I know theirs something wrong with me I know my body , then finally I found out what I had I cried got sick at the age of 23 so young 2 years later I was unable to take care of my babies I had no choice which broke my heart I had to give them up to my auntie cause I couldn’t carry or bath chandelier their pamper cause I was getting weak , but now today is worse all I do is lay in bed sore 24 7th my hips mostly bother me , some days I feel like giving up I cry and cry but I think about my kids which they bring joy to my life even though I’m just laying on the bed they come lay with me or try help me , I would like to talk to someone who has the same disease cause some people don’t understand what we have to go through everyday it’s hard but anyways I just thought I would share thanks for listening

    • I am so sorry for your pain and suffering. I was diagnosed 7 1/2 yrs. ago after suffering 1 1/2 yrs. with Systemic Diffuse Scleroderma and I started the Angel group to raise awareness. If you are on facebook please ask to be added to the Scleroderma Angel chat group where you will meet people from all over the world that share this disease. I care and I hope to see you in our group. Angel hugs

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