Stefane is a lovely lady that I met through Facebook, one of the many wonderful people that I have met through the social networking sites that have experience of Chiari.

Stefane's Chiari journey is a little different from some, but there are definitely echoes of similarity in there too.

Her story shows just how strong a person you have to be sometimes, no matter what life throws at you and how often.

Stefane really is an inspiration, and anyone knowing her would be truly lucky to have her as a friend.

CHIARI AND ME

In August a year ago my head was spinning. That is nothing unusual in itself, it often does, if I move my head too quickly, or if I look up, if something moves in my outer field of vision, sometimes it spins so bad I have to hold on to something or risk falling. But a year ago it was spinning with lack of comprehension, confusion, wonder, intrigue, elation and sadness. I had just been to see my ME specialist, I was diagnosed in 2004 with severe ME after battling with symptoms and misdiagnoses since I was 19. I am now 40. When I changed my GP she wanted me to see a specialist, the specialist wanted to take things back to the beginning and ensure that I had been diagnosed properly. They did all sorts of tests and scheduled my third MRI scan in 12 years. The previous two had been ‘normal’ though MS was heavily suspected on and off throughout the years. I lost track of how many different doctors I had seen during this time. How many misdiagnoses I had had, everything from Repetitive Strain Injury to Psychosomatic Illness, how many treatments, fom physiotherapy to in patient psychotherapy at a mental hospital. This scan wasn’t normal, didn’t show a normal result, it showed a small, but definite herniation of my hindbrain tonsils into my spinal column. I was told this was a rare, serious and incurable neurological condition known as either Arnold-Chiari Malformation or Hindbrain Hernia. I was told to keep an open mind but to go away and research it on google and come back in two weeks. I suspect they were doing the same!

I had never heard of it. I called my brother, who had always been sceptical of my illness, but had the advantage of a medical degree under his belt and told him. He had heard of it, but knew nothing about it bar a few symptoms. He told me he was really sorry, and I knew by the sound of his voice that it was bad. I should have known that anyway, I had lived with it for 20 years. When I was 19 I had a car crash which resulted in a severe whiplash injury. I woke up the next morning paralysed and though that passed within a few hours, I was never the same. I had six weeks off work initially but wasn’t back properly for six months. I saw a chiropractor, which was probably one of the worse treatments I could have had, given the way they manipulate the neck and spine. I continued to work but would have episodes when I couldn’t go in for weeks.

When I was 22 I worked in a highly pressurised job in the City in London and had dreadful pains in my arms, my legs ached and felt like lead, I had migraines all the time and would sleep whenever I got the chance. I was misdiagnosed with Repetitive Strain Injury and told that if I did not swim every day, then I would be in a wheelchair by the time I was 50. It was the first of many times I was pleased to have my mother with me for fear people would think I was being dramatic. I had to change jobs. I went to work in recruitment and personnel as I wouldn’t have to type so much. However, it was still very stressful and combined with the two-and-a-half hour each way commute it wasn’t long before I was barely functioning and was told to take two months off work and diagnosed with Post Viral Fatigue Syndrome, in other words, ME, but I didn’t know that until more than a decade later. That was misdiagnosis number two.

I went back to work but the same thing would keep happening, by this time I was living in Buckinghamshire and part of my job involved travelling around the country and seeing the staff in the national retail company where I was Personnel Manager. I would have to drive up the night before or go with my boss who would drive as the drive took too much out of me. I had “flu” so many times it was ridiculous, my body ached, my head and heart pounded, I was constantly exhausted and had blurred vision, electric shock sensations in my legs and my arms were so painful I sometimes couldn’t lift a cup to my lips without wincing. All that stress and my marriage of three years was going from bad to worse. I left the job. I left the marriage. Despite being lonely and pretty miserable, I was not actually stressed and my health improved dramatically. I wasn’t working silly hours or travelling around the country, I worked locally from 9-5 and was home by 5:15. I started going out socially again, going to the gym and having a life.

Then I met my second husband and we floated off into the sunset to run a pub and have a baby. So there I was again. I was literally working 20 hours a day, studying for exams to get my licence to have the pub in my name and deciding to have a baby. I had a dreadful pregnancy and a delightfully easy birth, and my baby was the most beautiful thing that anyone had ever seen. Then two things happened in quick succession, I developed Purpural Psychosis, a very severe form of Post Natal Depression which usually requires a fairly lengthy stay in a psychiatric hospital, and I woke up one morning paralysed. It passed within a few hours but I could barely move and was more or less bed-ridden. I had such severe dizziness that turning over in bed would make me cling to the mattress thinking I would be thrown to the floor as the room span so alarmingly, my legs collapsed constantly, I had numbness in my hands, feet and face, tingling in my arms, hands, feet and legs and on the right side of my face, I couldn’t feel hot or cold and would burn myself on things without realising it, I couldn’t bear bright light, or loud noises, music or lots of background noise, I was sleeping 20 hours a day by this time and needed a lot of support both personally and with my tiny, perfect baby.

The doctors put all my symptoms down to the psychosis and depression and I was treated at the outpatients of a psychiatric hospital. The one person medically batting for my side was my health visitor who had found the Post Natal Depression. She didn’t believe it was all down to the psychosis and depression, she felt it was physiological and convinced one of the practice doctors as well. I was referred to a neurologist at one of the best hospitals in England. He sent me for an MRI scan and told me that it would either confirm Multiple Sclerosis if there was evidence of demyelation or confirm a psychosomatic disorder if there wasn’t. There wasn’t. My doctor and heath visitor didn’t believe the diagnosis of a psychosomatic disorder (misdiagnosis number three) any more than I did, but no more was done about it as my husband and I moved to our own Freehouse 150 miles away. Now I had an illness, a toddler, an alcoholic husband, a much busier pub and a restaurant and letting rooms to run. I loved it, when I was well enough to work, which I would do like crazy for a couple of weeks then slowly get so bad that I couldn’t get out of bed for a couple of weeks. My marriage was going from bad to worse, my husband’s drinking was out of control and he was abusive and violent. Sooner or later I had to leave. By the time I did he had embezzled everything we had and left me £193,000 in debt, I was made bankrupt and lost everything, including my home.

So now I had no home, no job, no income, no chance of another mortgage or pub, no self-respect, no faith in myself, no security and no immediate future. What I did have was a whole host of symptoms that were getting steadily worse, a label that I suffered from mental illness with a tendency to hypochondria, a need for somewhere to live and some way of protecting my daughter and I from my husband who hadn’t taken well to our leaving. We made the decision to return to London and stay with my parents in the short-term. I was sure I would be back at work in no time and would either run a pub or find another job and rent a flat somewhere. Another car crash on the way into London on the day I moved put paid to that. It wasn’t even a bad one, but there I was back in bed for a few weeks.

I had no option but to go down the social housing and benefits route. Luckily because of the domestic violence issue and the injunctions I was granted against my husband, getting on the Homeless Persons Unit for emergency housing was easy. We were given a tiny room on the ground floor of the hotel on account of my sciatica and bad back (another misdiagnosis that had emerged from I don’t know where). However we were not allowed to prepare food in our rooms, the kitchens were up three flights of stairs and I could hardly manage one small flight by this stage, the toilets were two flights up or down. Within a few weeks I had a hernia from carrying my daughter up and down as she was too terrified of the dark hallways to move on her own. I had surgery for the epigastric hernia and another few weeks in bed.

My doctor however, was wonderful. He was brusque and to the point and his English was not the best, but he believed in me. After seven months in that hell hole, I turned up in tears at his surgery having just found a dead mouse in behind my fridge in my room. In one phone call he got me a temporary self-contained one bedroomed flat three streets away from my parents. At the same time he told me that he would continue to treat me for the depression and was referring me for psychoanalysis, which he felt I would benefit from after everything I had been through, but that he felt my symptoms were physiological and he would not rest until I had had every test possible.

I had the psychoanalysis, it was dreadful, long stretches of silence as the doctor sat smiling at me asking me inane questions. I was referred to a neurologist for suspected MS. The neurologist was one of the most offensive and patronising health practitioners I have ever met. He told me he had my previous scans and that they were unclear (not apparently normal) and that he wanted to repeat the MRI but do my brain, neck and spine this time. He then looked me in the eye and said “I think you should prepared yourself for a diagnosis of MS, I just need to find it”, he had done Evoked Response Potential tests and found nothing. Again, I was so pleased to have my mother with me and hear it too, by now the stigma of a psychosomatic illness was stuck with me and I felt no one believed me, despite it being obvious that there was something very, very wrong.

By now I could barely walk, but just shuffle along, the five minute journey between my parent’s flat and mine took me nearly half an hour to complete. More than a few steps were now a physical impossibility and I couldn’t lift my left leg, it would just sort of drag alongside of me like a sick yet obedient dog. I was deathly pale and painfully thin, I had no energy, just getting my daughter to the local school would result in me having to sleep the rest of the day, my parents would have to pick her up and we would eat there every evening as I could no longer manage to prepare a meal for us. I could not cut my food up or tie shoelaces or manage buttons as my arms had no strength and had to adapt my wardrobe accordingly. The other thing the snooty neurologist had said was that if he couldn’t find evidence of MS from the MRI scan, he wanted to perform a Lumbar Puncture. It sounded horrible and I prayed that it would show up on the scan, I was that convinced I had MS.

By the time the scan had been done and the results were back, a year had nearly passed and my health had improved somewhat. I was walking better, could manage a few stairs, could usually manage to self care but just couldn’t sleep, maybe I would manage three or four hours, not usually at night though and the pain was horrendous. It would start like someone driving a poker through the back of my skull just behind my right ear and spread up, down and around, through my temples, neck, shoulders, down my back, my hips, and eventually round my whole body. One minute my elbow would be screaming, then it would be fine and my big toe would feel like it had been stamped on by a shire horse. I still had the tingling in my right side, feet and hands and face, that had been permanent since shortly after my daughters’ birth. I now had tinnitus and would get my words muddled up. I would constantly get my T’s and C’s the wrong way round and sometimes my D’s and G’s, I would get easily confused and not be able to figure out simple instructions, like how to cook microwave noodles and my balance was so bad that I would stumble and fall all the time. I would slur my words or talk really rapidly. My double vision, which I had had on and off since early childhood, was now really acute and getting a bath would necessitate an hour’s lay down afterwards. I could no longer retain information and would have to read the same thing over and over again, if I didn’t make lists and check things off, they wouldn’t get done because I would simply forget them, yet my admin had always been my strong point. All these were in addition to the symptoms I already had. I could not control my own body temperature and would be hot when everyone else was cold and vice versa.

At the same time, I was still stuck in my temporary flat and desperately needed some stability for my daughter and I, we needed to move. I was also fighting the benefits system, which was a constant struggle. One for which I had no energy whatsoever.

I had been on DLA at a lower rate and then they just stopped it without explanation I lived on £80 a week for a year and took them to tribunal, I won my case but still on a lower rate. It was only when I got my Chiari Malformation diagnosis that they increased me to the upper rates for mobility and care, I dived straight in and got a brand new Ford Fiesta on the Motablity scheme, it gave me a new lease of life.

The results of the second MRI were back and I went to my appointment expecting the worst. Again, I was relieved my mother was with me, because what ensued was unbelievable. I was seen by a member of my consultant’s team.

The doctor was lovely and seemed very concerned. She explained that she would be performing a physical exam and that the consultant would come in at the end and give me my results. After hearing this I was terrified. She tested my reflexes, made notes, made me walk up and down, made notes, got me to stand still with my eyes closed, I overbalanced, she made notes, sat me on the bed and swung me to one side then the other while looking into my eyes, made more notes, asked me a lot of questions about headaches, pain and movement, made more notes. She sat down and started talking to me but before she got very far the consultant came rushing in and told her he would take it from there and that she had overstepped the mark. She said to him “You are going to tell her aren’t you?” he replied that there was nothing to tell to which she countered with “You have to tell her”, at which point he told her to leave, she left, shaking her head.

He sat down and told us that the MRI scan showed no demyelination. I asked him if this meant that I did not have MS. He started shouting that he didn’t know why I thought I did have it, that my symptoms were nothing like MS symptoms and that he didn’t know where I had got this from. My mother and I insisted that he had told us, but he denied it. I asked to see my notes and he said I would have to submit a written request. I asked him if he was still going to perform the Lumbar Puncture and he got angrier still and said that he would not, and that even if he were to, and even if he were to find evidence of demyelination in the spinal fluid, that there were other reasons, in particular migraines, that could cause it and that he would still not diagnose MS in my case as there was no clinical basis for such a diagnosis. We were stunned. We pushed some more but he told me that my desperation to ‘put a label on it’ was disturbing and that his department had spent enough money on me, told me that he was referring me for Physiotherapy for my dizziness and would see me in three months. With that, he dismissed us. When I returned for my appointment three months later, I had mysteriously been removed from his list. My scans and reports had been lost.

I went to physiotherapy and the physio was wonderful, she said this was not the first time he had done something like this and that she could get me back on his list, but felt that my symptoms were more synonymous with Myalgic Encephalomyelitis, or ME. A friend told me of a specialist who ran a hospital dedicated to ME, he was private, but not expensive, and thanks to my parents offering to pay for it, I made an appointment to see him.

I drove to Kent and was exhausted by the time I got there. The doctor was disgusted to hear what had happened and said that he did think I had ME, but that without a lumbar puncture, there was always a chance it could be MS, he wrote to the consultant to that effect but all we had in reply was a snooty letter, with a copy of an even snootier letter to the ME doctor saying that he was not prepared to perform the LP. My mother and I decided to make an appointment with the consultant at his private clinic. He treated us with the utmost respect, and over coffee and biscuits he explained that he would perform the LP on the NHS, but that as I did not match the clinical criteria for MS, he would not be able to make a diagnosis to that effect whatever the results were. It was scheduled for three month’s time. I still think he knew about the Chiari Malformation, but did not know enough about the condition, and therefore did not want to seem lacking, so brushed it aside.

By now we had been given our permanent flat and my mother and I worked like mad for a month getting it ready, it was hard, and challenging, but I loved it. It was on the ground floor of a small, nice estate, not high rise, in a quiet, leafy part of Kensington with four parks nearby and excellent amenities. It was a long way for me to my parents and my daughter’s school so she stayed with them three or four nights a week, in any case, I was unable to properly self care by now let alone look after her properly. But we even had a small strip of garden and a church we felt welcomed by at the end of our road. Things were looking up at last.

I went for the Lumbar Puncture, it was awful. I was told that sometimes a bit of spinal fluid leaks out and causes a painful headache which can be cured by lying flat on my back and that it could last for a fair while, but may not come on until the next day. Despite the warning that the needle would push past the sciatic nerve and cause an electric shooting sensation down my leg, when it happened, I screamed. It didn’t hurt exactly, but the sensation was so strong that I was unprepared for the shock of it. By the time I had got dressed again, I had a dreadful headache, a migraine even. I told the doctor and he said that that was unusual to say the least and probably brought on by stress.

Six weeks later I got the results. They were normal. I didn’t have Multiple Sclerosis, I had ME. I was referred to an immunologist who specialises in ME, he confirmed the diagnosis and gave me some tips for managing the condition, and off I went. I spent two further years in what I would call relapse. Then in the summer of 2006 I started to feel better. Apart from seeing my GP pretty regularly, I didn’t see any more specialists but I joined various ME websites and societies. I learnt about the condition, which affects everyone differently and learned how to manage it. I had been given six sessions of Cognitive Behaviour Therapy and this changed my life. I learned how to deal with pain and the depression and anxiety I had lived with on and off for two decades finally lifted. I learned how to stop it returning and I grew as a person in ways I would never have imagined. Life was good. I had more ‘good’ days than I had had in a long time. However by the following summer I was back in relapse again. I decided finally to change GPs to one near my new home.

One day I was talking to a new doctor, she said she wanted me to get a second opinion on the ME diagnosis. I had actually already had a third opinion if you count the two ME specialists and the physiotherapist. She sent me to a local clinic, they told me they were not convinced I had ME. Great, I had now lived with this condition for almost 20 years and had researched it for the past two-and-a-half years. I asked them to be straight with me and they told me they suspected MS. By now, I was no longer surprised at this and once again I became convinced I had it. When I was diagnosed with ME, I lost my Disability Living Allowance and had to go to tribunal. I was awarded a lower rate, but at least I had it.

They went right back to basics again. Blood tests, clinical history and scheduled another MRI of my brain. All this takes time, but on 20 August 2008 I returned for the results. If I am honest, by now I was actually praying for MS to show up on the scan. Not that I wanted MS over ME, I have learned that either are terribly debilitating neurological conditions, and that both can be fatal. It made no difference in that respect.

For the past eleven years I had had it hanging over me too many times, I needed facts, however bad they were, I just needed to know. Then I would deal with it. I prayed to God that there would be something to find on this scan, that if there was something there the doctors would see it, that I would get a confirmed diagnosis. God answered my prayer, the doctor told me that the MRI had revealed Arnold-Chiari Malformation Type 1. They sent me away to research it and I saw her again a couple of weeks later. The doctor was referring me to a neurologist as she had never had another Chiari patient, but assured me she would not discharge me from her clinic until we were both satisfied that I had the appropriate care.

I saw my GP the next day, I told her of this strange and rare diagnosis, but God had provided me with probably the only GP I had ever seen who currently had another Chiari patient at her other practice. She knew about it. She had heard about it. She was familiar with most of the symptoms and went through which ones I got, it turns out that I have, or have had at some point, most of them. I was referred to a neurologist who showed me my scan and told me that the herniation was very mild, but definitely there. She showed me the scan, I saw for myself. She said that rather than refer me to a neurosurgeon and for me to have to wait months to see him, she would consult him herself and I would see her in two months to see what was said.

I went along a couple of months later and was told that I would not be offered decompression surgery as the herniation is so small. She conceded that the symptoms were due to the Chiari and discussed how best I should manage them. She increase my painkillers and encouraged me to use my TENS machine, walk daily and eat healthily, she encouraged me to live as full a life as I was able to. I am not due to see her again until March, but she has said that if I want to or need to, I can see her as an emergency anytime.

A year on from my unexpected diagnosis and I have learned a lot. I have thought back over the years and things that didn’t add up before have all slotted into place. I have learned how to manage my condition as best I can. I eat healthily, I walk when and where I can, having a dog helps, I have to walk her, though there are too many days where she is reliant on other people to help her stretch her legs, or go without. I rarely attend family or other social functions. Any energy I do have is spent raising my daughter Kezia. She is now 11 and has been my carer since she could walk.

I have a social worker from the Physical Disabilities team, Kezia is now my official carer, so we share the same social worker and she has recently been referred to Young Carers, an organisation that is like a social club for young people who care for an adult either through physical or mental illness or drink or drug dependency. They get a lot of support there and they are all in the same boat. She is also being offered counselling, she has been through so much and works so hard at school and looking after me and our pets. I have put into practice what I have learned from both the CBT course and from Chiari support Groups and Websites.

I the last few months I have met more Chiarians, most of them in the UK like me. In talking to them, I have learned more about CM in four weeks than I have in a year. I have learned that I need to ask my neurologist to arrange a CSF flow to see if the fluid is blocked anywhere and a further MRI of the spine to determine if I may have a syrinx (or cyst) in my spinal cord.

Chiari has taken from my life, of course it has. My daughter has lost out a lot through it, without ever once complaining, I can no longer dance or run, or rollerblade. I can’t swim anymore, or ride horses, I can’t look after myself properly, I can’t wear my hair long as I can’t lift my arm to wash and brush it. I walk with a stick and have done so for the past four years. I can’t drive for more than half an hour in heavy traffic or an hour on the motorway. I used to walk around London rather than take the tube, I would walk for several miles, I can’t do that now, nor can I take public transport. I can’t hold new information, sometimes I can’t read or listen to music, or watch tv. Chiari has robbed me of my sleep, I either cannot sleep at all or cannot stop, either way, I never have refreshing sleep. I have lost friends from having to cancel last minute one too many times. I can’t talk for too long as my voice goes hoarse, so singing is out too. Something I used to do semi professionally, like dancing, I can’t manage either any more. There is loads it has taken from me.

Has Chiari brought me anything? Yes it has, in so many ways. For one thing, I have time. I have been able to be here for my daughter. I have been unable to work since she was three, had I done so, she would have been raised by baby minders, she has been raised by me, with help from my parents. I have new and wonderful friends and no time in my life for people who only take or cause stress, so those who are around me are very special people. I have found that there are many people on many levels who are compassionate, undersanding and loving and I value them more than I ever knew I would. I have found that there are many resources out there if you only know who to ask or where to look. I have found that simple things make me happy, like the sunshine streaming in through my windows as I lie in bed, the sound of a child laughing, a dog barking, getting a text from someone just asking how I am as they haven’t seen me around. All sorts of things.

The first week in September this year, I suffered massive and horrendous relapse after a summer of comparative good health. The pain was unimaginable and indescribable, very strong painkillers didn’t touch it and I could feel it everywhere in my body. I have spent the best part of five weeks in bed, I saw my GP, actually, my daughter’s GP, she thought I had MS, when I told her it was Chiari she gave me a thorough physical exam and told me next time I get like that I am to call her as in her opinion I should have been in hospital. She feels my condition is progressing and asked me to make an urgent appointment with my neurologist. It took a month to get that emergency appointment, and then only with the registrar. I took it, and am off to see him tomorrow morning at our small local hospital. I am hoping that a fresh pair of eyes, someone younger not so far out of med school may have a fresher and more informed approach and understanding of my condition. I think they will want to perform more tests, my symptoms are pretty bad at the moment, a whooshing sound in my ears, a pulsing, sometimes so strong it squeaks, the ringing in my ears is so bad I am having trouble hearing people properly, I have no energy and am bedridden most of the time. I am hoping the test they will perform, if any, is another MRI and not a monitor attached to my skull by drilling into it, I don’t want to have a shunt placed into my brain to drain spinal fluid, it leaks out of my nose a lot so my body is doing the job anyway. It is a bit gross, but people just think it is hayfever, which to be honest is what I thought. I wonder if they will find that the herniation has grown, I won’t know for a while, but there will be a recent record, and if nothing else, my mind will be at rest and I will have a recent and complete report to send to the DWP when I reapply for my DLA in March. I have to think like that, I don’t have a choice.