Have you ever had a dream you’re in trouble and you’re screaming out for help but no one can hear you and no one comes to rescue you? That’s what the last two years have been like for me. My body is screaming out for help and the only person who can hear it is me.
I know that a process of some kind is going on in my body. I am suffering from many Lupus like symptoms including the classic butterfly rash but my bloodwork has so far been negative. Because of this, I have not been taken seriously. I have had many brush off’s from doctors with test after test coming back clear, that my own family are doubting if Im really sick at all.
The humiliation of going into my GP’s surgery again and again, complaining of a myriad of symptoms that don’t add up and the different tests that come back normal, time after time, is soul destroying. It’s really hard to describe, as most people who find out that their tests are clear or normal are delighted to be healthy and relieved that nothing serious is going on, but I know something is wrong. I know there is some battle going on inside me and I need to know what it is. All I want is to be told what it is and be treated for it. Is that too much to ask? Every time, a test comes back normal, it just sets me back again and makes a diagnosis unreachable. I have to deal with the realisation that I’ll be suffering forever with no one believeing me and no intervention.
It would be so easy to just give up and put up with my Lupus like symptoms, but I owe my husband and children more than that. I don’t want to be sick all the time. I want to be a proper wife and mammy. I want to be able to play with my boys, take them for long walks and bring them on sun holidays! I want to renew that spark I had with my husband before I became ill, before I was too exhausted for even a cuddle or to enjoy a night out together. I want us to have fun and enjoy each other again. Im only 29 and I feel like Im 79. Why should I live my life in silent pain and suffering, while this disease progresses? Just because doctors can’t figure me out?
It all started back in September 2007. I developed my first ‘mysterious symptom’. My fingers swelled up and a rash appeared over my knuckles. I went to three different doctors but none knew what it was. I was working in a pharmacy at the time and the pharmacist suggested I go to see the local doctor there. He referred me to a consultant dermatologist. After a chest xray, bloods and a skin biopsy, she diagnosed me with Lupus Pernio. She said that it was nothing serious. That it was a type of chillblain and she prescribed me with Dermovate Ointment, a topical steroid to reduce the inflammation. After six weeks, it cleared up, just in time for my wedding in March 2008. I just got on with my life and forgot about it.
The following year in February 09, I had my second son. The birth went well with no complications. The pregnancy on the other hand had a few little hiccups. I was admitted to hospital twice in the third trimester, once with a very bad kidney infection in which keytones, protein and blood were found. Another time with a bad chest infection in that I found it hard to breath. I was not tested for lupus either time, just put on antibiotics. Also, towards the end of the pregnancy, I had to get Cytamin injections every week for a low red blood and platelet count,looking back I often wonder if these were in fact lupus flares.
In April 09, I was again admitted to hospital with suspected appendicitis. I had severe pain in my lower right side. I had woken the night before and nearly collapsed with the pain, the dizziness subsided eventually and I was able to go back to sleep. The following day, the pain was very intense, I could hardly walk. I went to my Gp and I was referred into A&E. I was admitted and had lots of tests, scans and a laproscopy. Nothing was found. It was concluded that it must have been a ruptured ovarian cyst.
Everything was fine up until March 2010. I was away for the weekend with my husband and two boys in Killarney to celebrate my husbands 30th birthday. We were travelling in the car when suddenly I started to get stabbing pains in my legs, migrating in nature. I just put it down to the long journey in the car the previous day and just thought they were muscle cramps which I had never suffered from before.
Weeks passed and the pains migrated to my arms and eventually all over. It was like having the flu but without the other common flu symptoms. The pain was intermittent and migrating in my muscles and radiating around my joints. I kept thinking I was coming down with the flu. In June of that year, I developed a red rash on my nose. This rash has never left me. The doctor put it down to rosecea and treated me with tetralysal antibiotics. The redness would improve but as soon as I stopped the course it would flare up again.
In July 10, my right eye became swollen and it felt like I had grit or dirt in in it. I presumed it was a sty, which I had never got before and I treated it with OTC eyedrops which seemed to make it worse. I could not see anything in my eye but it felt like there was something in it. This lasted a week and cleared up. Since this time, I have been getting recurring pain and discomfort in my eyes.
That same month, I felt like I had a hormonal imbalance. I just knew something was wrong with me but couldnt put my finger on it. I was getting increasingly tired for no reason and I just felt ill all the time. I also felt like I might be pregnant. I visited the nurse at my Gps surgery and she tested my thyroid and gave me a pregnancy test. Both came back negative. This feeling persisted and on the 13th August 2010, I was having what I thought to be a heavy menstrual period but I had what appeared to be a missed miscarriage.
In October 2010, I was having chronic daily headaches for over a month with episodes of disorientation and weakness. Again, I was sent into A&E. I spent the day in there having numerous tests, CT scan of the head, chest Xray, blood and urine tested, diabetes test. When they all came back normal, the female doctor on duty asked if I ‘felt low’ as in was I depressed? My reply was, ‘Would you be the happiest person in the world if you were in pain all the time?’ She told me that depression can manifest itself as physical pain. I left the hospital feeling embarrassed, extremely frustrated and seriously doubting myself. I told myself that it must be all in my head and the series of symptoms must be unrelated. My family started to think I was a bit of a hypochondriac aswell, they never admitted it but I knew what they were thinking…that I couldnt be too sick if nothing was showing up in any tests.
I basically ignored my symptoms all through Xmas ’10 and the New year of 2011. I kept telling myself that it must be psychological. I felt like I was going mad inside. In February 2011, I had a bad flare. I came down with ‘the flu’ again, with achiness all over, fatigue, headaches, fever, my fingers swelled up after 3 years of remission. I developed very painful hips and my jaw was very stiff and sore. I had an ‘episode’ again of disorientation and weakness. I began to experience numbess, pins and needles, vibrations and strong muscle twitches. I started to notice that I could not open jars as easily, my wrists and hands felt stiff and sore. My muscles would tire very easily. I could not keep my arms above my head while blowdrying my hair. I would get a feeling of lactic acid in my muscles after minimum activity. I also started to experience short term memory loss which was freaking me out. I would forget what I was talking about mid sentence, I kept forgetting what I was doing or what I was looking for. I felt like I couldn’t function properly.
I was so disheartened from my last experience at the hospital, that I did’nt go to see my doctor. I just put up with it. I improved eventually and I was doing ok up until May when the same symptoms reappeared. This time I went to my Gp as the hip pain was so bad I needed pain relief for it. He took one look at my swollen hands and red nose and said he was going to test me for Lupus. I thought, ‘Thank God. This hell will finally be over and Ill be treated for whatever it is I have’. A week later, the results came back and they were all annoyingly normal. I felt so bewildered and confused….How could all these things be happening to my body with nothing showing up in my blood?
The Gp told me I was ‘a bit of a mystery’ and referred me to a rheumatologist. The rheumatologist that he originally referred me to was not covered by my health insurance. So I stupidly picked a name out of a hat, so to speak…I just picked a name off the Quinn list for participating consultants in my area. I received an appointment to see him on the following 5th August ’11.
In June 2011, I went on a family holiday to France with my family. After two days of being out in the sun I came out in a horrible rash across my nose and cheeks, identical to a Lupus butterfly rash. My arms, legs, and chest came out in little red non itchy dots under the skin. Along with that, the usual pains and exhaustion appeared. I spent most of that week in bed and my holiday was ruined. This facial rash has since come and gone, sometimes lasting days at a time, other times just flaring up after a glass of wine, a hot shower, or excercise and lasting an hour before disappearing again. I also gradually developed an intolerence for alcohol, anymore than two or three drinks and I will be physically sick and it will trigger a flare of symptoms.
I went to see this private rheumatologist on 5th August, I was so apprehensive and nervous going into him, I was expecting so much. I needed answers and I presumed I was going to get them. I needed closure…even if it was Lupus or something similiar, I needed to know. The Gp had sent in my blood test results that he took 3 mths previously. Unfortunately for me, this man was the most obnoxious, insensitive man I have ever encountered. I spent about 10 -15 minutes in his company. He gave me a physical exam, checked my joints and performed the tender point test for fibromyalgia. He then performed the Schirmer test to check for dry eyes. This test came back positive but the tender point test was negative and he said that he could not find any visible inflammation in my joints.
I showed him photos of my previous facial rash and some of my finger swellings. He brushed this off, saying that many illnesses can cause those rashes… rosecea for my face and he was sticking with the chillblains diagnosis that I told him of with my hands. He said that I ‘probably’ have Sjogrens syndrome, as my eyes were dry and I had joint and muscle pain. He didnt tell me what this Sjogrens syndrome was. I asked was it autoimmune. He said yes, that its basically just dry eyes but can cause some of the symptoms Im having. He commented on my cold discoloured hands, after we shook hands and told me to ‘wear gloves’. He said that my symptoms could be unrelated, different things going on at same time. I disagreed with this and said that I felt it may be Lupus as I had many similiar symptoms. This is where I put my foot in it. He basically laughed at me and told me that it definately was’nt Lupus because my bloods were negative (ANA and FBC).
He seemed so confident about it that I accepted this. He prescribed me with eye drops and anti inflammatories and sent me on my way, with no talk of a further check up or future treatment. I went home and looked up Sjogrens syndrome and saw that its actually a bigger deal than he was making out. It is also a chronic systemic inflammatory condition related to lupus. Its sometimes referred to a kissing cousin of Lupus. He sent out a letter to my Gp suggesting that he takes me with a ‘conservative approach’ and to treat me symptomatically. Yet he still diagnosed me with Sjogrens Syndrome and Raynauds Phenomenon. When the letter came in, I asked for a copy. After reading how this man was brushing off my symptoms to my Gp, I was infuriated. I rang his office and the receptionist told me to come in to see him again free of charge to sort things out. The following day, I went back to his clinic, I brought my Mum with me for some support.
Again, he stood by his decision that I definately did not have Lupus. I asked for him to retake my bloods again just to be sure. He said there was no need. I had to practically beg him and he wrote a referral to get some bloods done at the pathology dept of the hospital across the road. Again, I left in tears and my Mum agreed that he was a very abrupt insensitive man with a really bad attitude. Apparently, he rang my Gp after this to complain about me!!!
We were in a rush home to collect my son from school so I left getting the bloods done until another day. I asked my Gp if he could do them, to save me travelling the 40 minutes back into the city and he said he would. So the following week, I saw the nurse who again took what I thought was what was on the referral paper from rheumy. The anti DNA, ENA, CRP and a few other things were left out because they could not do them from the surgery,( after Gp telling me he could.) I had another week of suspense and uncertainty while waiting for the results. I rang the surgery the following Friday and she told me that everything was normal. She said…’Now isnt that great, its nothing serious!’. As if to say, Theres nothing wrong with you, just get on with it!’ I know this sounds weird, but I spent 2 days crying over this. I could not understand it. It was like my body was playing cruel tricks on me. My whole life was taken over with this horrible mystery illness, affecting my family life and my ability to function normally. I felt so powerless, so bitter and so very alone. My bloodwork was making a liar out of me! I later got a copy of these results and the only thing that was questionable was my RBC which was just above borderline.
I felt like I was driving myself into a depression. I was constantly searching, looking for answers and trying to fit the pieces of this diagnostic jigsaw puzzle together, into one piece, but everytime I got to the last few pieces, it fell apart again and I would have to start all over from scratch. My symptoms were so vague and seemed so unspecific. I desperately wanted my family and friends to believe me. I felt like I had to prove myself all the time and that I had to fight with everyone…family, friends, doctors, consultants…to try and prove how I felt inside. My family now know that something is wrong. They can now see visible symptoms…the rashes etc. My husband, parents and parents in law, have been very supportive.
I visited my dentist because the stiffness and pain in my jaw was getting worse and I was grinding my teeth alot. He disagreed with the Sjogrens diagnoses as I was producing plenty of saliva and he said that I was the youngest person he had ever heard of to be diagnosed with primary Sjogrens. He took an xray of my jaw and told me that all the lining of my jaw was inflamed and that there was evidence of TMJ disorder (which can happen in lupus). He asked what rheumatologist I went to and when he heard who, he said that he has only heard negative things about him. I have since heard the same from a doctor and a nurse. My dentist urged me to get a second opinion.
On a last resort attempt, I changed doctors, as I thought I was not being taken seriously since my blood results were still normal. I returned to my childhood Gp, where my Mum works as a receptionist, over an hour away. I told this Gp all my symptoms and showed him the photos of my rashes. He said that my symptoms certainly point to SLE or another similiar inflammatory process. He said that it doesnt always show up in the bloods, that it’s rare, but it can happen. He said in some people it takes a while to show in the bloods. He suggested that I would have to get a second opinion from another rheumatologist.
I went to see the second rheumatologist on 20th December 2011 and it turned out to be even worse than the first appointment. This man, although had a more pleasent bedside manner, also did not take me seriously. When I first told him what was happening with me and after he examined me he said your symptoms suggest Lupus and went on to tell me what Lupus was. But then he looked at the copy of my blood results and said ‘actually, it couldnt be lupus because your ANA is negative’. I thought ‘here we go again’. He said I do have Raynauds and theres a possiblitity of Sjogrens or fibromyalgia but Lupus was out of the equation because of negative ANA. He said he would request a copy of the biopsy that was taken on my fingers back in 2008 and would get back to me.
He wrote to my GP relaying the same and suggested that my bloods be done again to check for anti-DNA, ENA, inflammatory markers etc. My GP took my bloods in the New year of 2012 and sent them off to the Lab. Three weeks passed and we didnt hear anything from them. They sent out two results, the ANA and RF which were both negative. We waited another few weeks and the nurse at the surgery rang the lab to find out what the delay was with the results on the other bloods to be told that they did not do them as its protocol when the ANA is negative, not to do the rest. I got onto the rheumatologist to tell him this and his secretary said that there’s not much he could do about it but that he will get back to me when he hears from the dermatologist who did my biopsy in 08.
I was at my parents house at the time and after this phonecall I was very upset again as I was not being taken seriously. So my Dad rang his clinic and left a message for him to ring me as soon as possible, that he was seeing me suffer with these symptoms and something had to be done as I needed treatment and this was the reason why I was spending alot of money that I didnt have to go privately. He rang me back within the hour! Told me to come to the hospital in Cork and get my bloods done again. So the following week I travelled to the CUH and my bloods were redone. Two weeks later, I rang for the results to be told that these particular bloods were not done again as the lab again refused to do them because ANA was negative! He told me that there was nothing he could do about this but offered to put me on steroids. I declined as steroids were the last resort for me. While these steroids might have helped, I wanted the condition to be treated, not masked.
I took matters into my own hands and asked my GP to refer me to a skin specialist who on seeing my photos of face rash told me I had Lupus. I told him about the negative ANA and how impossible it was to get a proper diagnoses and he said that its possible to still have it, that bloods dont always tell the full picture. He looked at my hands and he told me that I definately have a connective tissue disease as I had lupus chillblains, inflamed nail beds and visible nail cappillaries. I asked him if I could have a biopsy on my face to see if anything would show up and he said that there was no need that he could tell me it was lupus by looking at the photo. But I insisted as I needed some clinical proof. He warned me that it would probably come back inconclusive as it was not present on the day but we went ahead with it and low and behold, it came back inconclusive. But he still insisted that I had lupus. He took my photos to a Dermatology medical conference in Killarney and used my photos for his case study. A leading specialist dermatologist from Oxford University, but who also does multi disciplinary clinics with haematologist and rheumatologists suggested that I have whats known as ‘Incomplete Lupus’, that my antibodies have yet to turn positive but that they will eventually turn positive and that I will develop full SLE. She suggested that I could have a Lupus/Sjogrens overlap. She said that she often sees patients in her line of work who are symptomatic but who’s bloods do not reveal the lupus until much later. She agreed that I needed treatment and for me to begin Plaquneil and to avoid steroids, due to the undesirable side effects, as I had no major organ involvement.
So this skin specialist who is such a caring genuine man, and who did all this in his own time (I saw him publicly) rang me to tell me this and to take it that I have it. He said that he was unable to prescribe me the plaq as he is not a consultant but to tel the rheumatologist what this lady said and to ask if he will prescribe it to me. When I rang the rheumatologist to tell him this, he was very put out. He said that there is nothing there to suggest systemic involvement in my bloodwork and if this lady is diagnosing me, then she can treat me. I told my skin specialist this and he agreed that it sounded like the rheumatologists nose was out of joint because I went to someone else. He then referred me to another dermatologist who specialises in connective tissue diseases to confirm this diagnoses and to prescribe me plaquenil to treat my symptoms. Im waiting on an appointment date to see this man but Im hoping to finally start treatment as soon as I see him. He (the skin specialist) was the only medical professional to believe me and not treat me like a neurotic hypochondriac, Ill always be grateful to him for that.
While all this was going on, around April or May of last year, I had begun to do alot of research. I joined a Lupus Support Group in the UK called The Lupus Site. Here I found like minded people, going through the very same things I was. I realised that what I was experiencing had a name and that I was’nt going mad. I could relate so much to everything. Some of the posts were as if I had wrote them myself. Here the members told me that I did not need to have a positive ANA to get a diagnosis and that many lupus patients on thier site and throughout the world have a negative ANA. I discovered that in some people the blood takes a while to show up disease activity and that in some people, the ANA can be negative and the anti Ro and La antibodies can be positive causing a rarer form of Lupus called ‘Ro Lupus’. These antibodies have never been tested. Members told me that I should pioneer on, as I know my own body the best and I know that something is not right. I ordered some Lupus books from Amazon and educated myself on the disease. I never related so much to something in my life as much as the symptoms and stories in those books.
I wrote an email to the London Lupus Centre explaining my symptoms, the problem of getting a diagnosis and i attached my photos and asked for some guidance on where to go or what to do next. The head of the centre wrote back to me, a Professor Graham Hughes, who came across as such a lovely man and Im so honoured that he took the time to reply to me himself. His reply was as follows:
Dear Mrs ****
Thank you very much for your email. I must say the clinical picture you have given to me is something that we see very commonly. The combination of clinical features strongly suggest an autoimmune problem (Sjogrens) and as you probably already know, tests can be negative. (I hope incidentally that the tests include ENA and anticardiolipin). Obviously I would be very happy for you to be seen here in our Lupus Centre, but I do realise that this is a major undertaking. If you feel that this would be helpful, please do not hesitate to ring our secretaries on 020 7234 2155.
With kind regards
Professor Graham Hughes
Head of The London Lupus Centre
I did not have the tests he mentioned (ENA and anticardiolipin) as the labs refused to do these because of the initial negative ANA. But he mentions Sjogrens too, which is an auto immune problem and related to Lupus. I also found it very encouraging that he added that bloods can be negative. This is a world leading specialist in Lupus, Sjogrens and other auto immune conditions. Whether its Sjogrens, Lupus or both, they are all treated the same. I need treatment and plaquenil seems to be the way to go. But I dont understand why I have had to fight for the last two years to get treatment and for me to be treated like a mad woman in the process.
I met some very special people through all this, whom I became friendly with. I met Jessica (the founder of Lupus Group Ireland) through The Lupus Site. We had so much in common and she was a great source of support. We became facebook friends and kept in contact. We were able to vent to each other and I asked Jess questions and advice on getting a diagnosis. Jess then had an idea to set up a facebook page to raise awareness for Lupus as there was no information or resources in Ireland for us. While The Lupus Site was great and very informative, we both agreed that we wanted to meet other Irish Lupus sufferers and to provide somewhere where we could all go for support and recommedations about Irish rheumatologists etc. It was through Jess, that I met Rebekah, another inspirational Lupus sufferer and through the facebook Lupus awareness page, that I met all the other lovely girls on ‘Lupus Group Ireland’ support group. I have never met Jess in person, but I feel like I know her all my life. I am getting to know the other girls very well too. They are all strong, independent and inspiring women. Recently, we have two new male members who are also very inspiring and courageous people.We all hope to meet in the summer. Im confident that we will all stay friends for many years to come. So there is something positive to come out of all this!
If you are reading this and you are here because someone close to you suspects that they may have Lupus, please listen to what they say and dont dismiss their symptoms. A sick person needs to know that they are believed and supported. If you think you may have Lupus, but your blood results are normal, keep looking for answers, you owe your body that much. Never give up the fight because you know your body better than any doctor. If you’re a Lupus sufferer, you’ll understand.
Im hoping by the time you read this, I will have my concrete diagnosis and treatment. Im sick of being sick and so very tired from having to fight my way to a diagnosis. As Ive already mentioned, this illness is affecting my whole life and I cannot go on like this, without knowing what it is. I don’t like the person I’m becoming because of it. I’m always searching, looking for answers, trying to figure out whats going on. I’ve become withdrawn, unsociable, irritable, angry and bitter. It’ s the ‘not knowing’ thats the worst. It’s the feeling that no one understands me, even those closest to me.
I want to help raise awareness for Lupus in Ireland, especially for ANA negative Lupus and other auto immune sufferers. I don’t want others to have to go through what I have. The public and even the medical field need to be updated on Lupus and its many symptoms. Along with Jess and all the girls, we hope to have a strong support network in Ireland for Lupus sufferers and their families. We hope to continue our campaign to have Lupus added to the Long Term Illness Scheme, as it is a long term illness and has every right to be there.
All my symptoms are recurring and are getting more progressive as time passes. Im confident that its Lupus/Sjogrens or a similiar condition. There are just too many coincidences for it not to be. Once I have my concrete diagnoses, I will accept it and hopefully be able to close the book on this chapter of my life and start afresh with treatment and recognition.
Butterfly hugs and kisses to you all…..and remember never give up!