Aileen's Story
Adult VLCAD
‘Living with VLCAD for 55 years’
Diagnoses:
VLCAD (diagnosed in 2002, 51-yrs-old)
Sjogren’s Syndrome
Migraine
Raynaud’s Syndrome
Osteoarthritis
GORD (GERD)
Lactose Intolerance
Various chronic conditions relating to the above
My name is Aileen Ann Mathieson (maiden name McCrory) and I was born on the 27th of November, 1951 in the City of Dundee on the east coast of Scotland. My mother, Anna Ferrie (a Tailoress/Seamstress) and my father Charles Simpson McCrory (a Master Plumber) married in October 1950. I can only relay the details of my birth, my life and health for some of my childhood years from the memories I have of those years and from what little I have been able to obtain from my relatively small family base. I was apparently born a healthy 7.5 lb baby, but my mother became seriously ill with puerpural mania caused by toxemia and eclampsia. She was so ill she was given the Last Rites at one stage. I was apparently looked after by my paternal grandmother for at least the first 8 weeks of my life while my mother was incarcerated in the local Mental Institution. I was therefore not breastfed, but bottle-fed at that time. My parents were advised to have no more children due to my mother’s state of health, but they went on to have 2 further children, my sister Kathleen (aged 51) and my brother Paul (aged 38), both of whom I suspect potentially have this disease also, but will stubbornly not have tests to exclude or prove otherwise.
My early childhood is very hazy due to the fact that my mother spent many months at a time being admitted for her continuing Manic Depression, so due to this I never ever had any real bond with my mother and accordingly none with my father who had to work to keep the family together. My father subsequently became an alcoholic most probably due to his family’s propensity to this and the stress of my mother’s long-term illness. The only clues to my having any type of rare illness from those first years were that I was unable to eat or chew any foods which were tough like most kinds of meat and I would not swallow them. My mother said I refused point blank to swallow and I was labeled the “soup and pudding” baby, only eating soft foods which were manageable and I slept a lot – not many clues at that time to indicate illness.
As contact with any Professionals back then was not available I have no records of any major illnesses or hospitalizations, but did suffer chronic illness from an early age with asthma type symptoms, constant sore throats – tonsillitis with abscesses, muscle weakness and extreme fatigue. I would always be away from school longer than anyone else when there were viruses around like flu and colds. At junior (Primary) school up to the age of 11 years I managed to take part in most activities, but my most vivid memory was that I always became ill after any extreme form of exercise, which was always put down to infections and nothing else. Once I went to High School things became more difficult for me as I was unable to take part in any sports that involved prolonged exercise like running, swimming and other games like hockey, netball etc.
I usually volunteered to be the goalie at hockey so I did not have to move too much and I did do well at static sports like javelin, hammer and shot put. I was able to do these short explosive types of games. Swimming was my worst nightmare as we had a very cruel PE Teacher, who pushed us into the deep end of the pool to teach us a lesson she thought. I honestly thought I would drown that day! I was so scared of her. I could not climb wall bars or climb ropes and just fell off. I was bullied by this teacher for 5 years, but strangely not by my classmates. She said I was lazy and clumsy and just did not want to do anything!!! Over the years I had one or two scares with water as I never had the strength to swim any length of the pool and once slipped under and could not get back up again. Luckily my husband was there to save the day. Considering all this I just loved to be in the pool as long as I am allowed to do my own thing.
In my high school education I chose not to do sports and preferred the sciences and medicine, which has stood me in good stead to this day. My first ever career was as an EEG (Electroencephalographer – Neurology Department) Technician in the hospital where I was born. I then went on to be a School Laboratory Technician until I married in 1971. Before I married I did join a few clubs one of which was a Hill Walking Club, but again this did not last as I found the trips exhausting always becoming ill after outings, so once more a hobby was given up. I obviously compensated between work and hobbies by sleeping for many hours and in my teenage years if I was not at work or out with friends I slept constantly especially at weekends much to my father’s disgust!
When my husband and I married he was a Royal Marine Commando, who spent many months away from home and I was the homemaker. I would say that at least the first 1215 years of my marriage was a blur, I had 2 sons, now aged 35 and 32, and I cannot remember a lot of what went on, probably due to being in a state of chronic fatigue all the time.
[The photo above is a photo of myself this year with my oldest son James – he is a Company Sergeant Major in The Black Watch Regiment, now the 1st Battalion The Royal Regiment of Scotland – this was when the Regiment were given the Freedom of Angus (our County in Scotland) for services in Northern Ireland and Iraq. I am so proud of him. As you can see I look very well and healthy, which always makes others think I am OK, but that is not the case – so this disease can cause lots stress and psychological problems as well as physical ones.]
I had difficulty giving birth to my first son mainly due to exhaustion and his size (9.5 lbs) and had to have a forceps delivery, but still no clue to the exhaustion. Throughout these years I carried on as normal a life as possible doing all the household chores, even decorating and renovating our homes, going to College and working full-time from 1978 to 2002. I suffered many many days, weeks and months of illness over these years, too numerous to mention, all non-specific – infections followed by extreme fatigue. At one point our family doctor, who had been my mother’s doctor, labeled me a hypochondriac and that I was likely going to be as “mad” as my mother – how degrading was that. My mother’s illness was neurotic with some psychotic episodes thrown in, but she was not completely mad and her illness was not genetic to the best of my knowledge. My husband took great exception to this man’s MISdiagnosis. I have only suffered one clinical depressive episode, in 1981 after I had a serious infection which was once more ignored as per usual. I became agoraphobic and had panic attacks, and it took one year for me to have the courage to reclaim my life as it was and get back into society and back to work.
As the years rolled by my muscle strength deteriorated, I was more clumsy than before and I could not do the things I loved like gardening and decorating – these things became more difficult. I would have episodes of extreme irritability, agitation, feeling sick and dizzy, not realizing that I needed food to correct this problem until now of course. My clumsiness was a great joke to many relatives and friends, but I took this with great humour and patience.
I wanted to be like all the other people I knew and more especially as my husband was a very fit sporty person. I tried to go to the Gym with him, but kept taking ill after exercise and could not keep up with him on walks etc so that had to stop. Once I relaxed in the evenings I then could not get out of the chair and used to shuffle about the room until I got going like I was double my age – what a great joke that was for everyone – I just accepted this as a bit of fun – not knowing what was really wrong with me.
Many people just said I was a grumpy, bad-tempered person on occasions and sometimes a bit volatile, but mentally I was a good person and hated feeling this way, but no one wanted to know about all this especially from THE LAZY, CLUMSY, BADTEMPERED, MOANING REDHEADED GIRL WHO JUST GOT UP THEIR NOSES. Many times I was told it was all in my mind and I needed to get my act together – doh!!!!!!!!
I had many accidents at home and outside because of my muscle disease suffering many falls (now known to be due to foot drop – more so on the left, but now showing on the right). I would drop casseroles of food on the floor while trying to remove them from the oven – luckily no injuries only lost meals. My condition has deteriorated VERY slowly over all these years, thank goodness. I am able to deal with most activities that are at worktop level and I keep the most used items in the kitchen at that level including items in cupboards just at shoulder level. I have difficulties with cutting hard vegetables and carrying full pots and casseroles, and have to use both hands to fill the kettle. Only recently have we been able to afford to renovate our kitchen area and open it all up, putting in an eye-level oven and arranging things so I do not have to move too far from cooker to cupboards etc. Other problems I have are with getting dressed, showering and climbing stairs etc. Our Community Occupational Therapist has been so good and an extra stair rail has been put in so that I now do not have to virtually pull myself upstairs with both hands on one rail, the extra rail does not make the pain any easier, but it makes getting about simpler. Shower safety rails are now in place and I feel much safer as I have a real fear of falling in the bath. I cannot have a bath and have not been able to do this for over 20 years. We are going to approach the Fire Service Benevolent Fund for help with this, as I would just love to soak in a lovely warm bath with lots of bubbles. I still manage to do most chores that are light and as I said at waist height. Most heavy jobs are planned for when my husband is at home from work. He has been wonderful and changed the garden, which is huge, by building worktop type boxes to put lots of pots on so I can plant lots of nice flowers in the summer and spring bulbs. Most of the garden is concrete slabs with fenced borders for flowers and shrubs, that my husband prunes for me in the Spring, with a lot of instruction from me, otherwise I would have trees with just trunks and no branches, his idea of a nice rounded bush or tree is definitely not the same as mine. There are also a number of problems relating to my personal relationship with my husband, but this is something I could discuss in private with others who have VLCAD if they wish to ask any questions.
I just love my garden and more so now that my walking distances are becoming shorter and shorter as the years pass. Compared with “normal” (if there is such a thing) people I am SO SLOW at everything – dressing, showering, household chores (ironing clothes takes hours and sometimes days), trying to go out anywhere special is like a military operation with planning way in advance.
Some of my usual difficulties are opening jars, bottles and cleaning containers, I do not have enough strength to do this, especially when there are childproof lids. I usually ask my Pharmacy to give me packets of meds and not jars or bottles, as I cannot open them. I love to go for walks, but this had gotten less in the last few years and it takes me about 10 times longer than normal to go any distance. I find it difficult to grip things and hold onto anything heavy and cannot carry any weight for any distance or length of time. Even my handwriting has become dreadful so thank goodness for computer and e-mail technology which helps me to communicate with others.
Prior to my diagnosis I had no help at work at all for my condition as it was so rare and unheard of (note I work for the National Health Service!!), but once I had a diagnosis I was assessed by Occupational Health at work and they have been a great help. I now have the correct kind of chair with a spinal cushion for my back and posture, the computer monitor measured and corrected for height, and I have a chaperone in place in case of emergencies re: fire in the workplace as I would have difficulty keeping up with others if this happened, so I am happy with the help so far offered to me in my employment.
The worst part of my disease is PAIN, I seem to be in constant pain, muscular pain, but as I have not known any different in my life I did not seek help with this until my final diagnosis, until then I only took regular over the counter pain relief. Over all the years I attended dozens of Medical Departments – Rheumatology (discharged as Fibromyalgic – no treatment – no follow-up), Gastroenterology (tests proved negative for GI disease, apart from abnormal bowel spasm and oesophageal spasms and some slightly abnormal blood tests – Calcium and CK (Creatine Kinase) – no treatment and labeled Irritable Bowel Syndrome – now GORD for which precautions are taken like raising the head of the bed, not eating too late at night, bending after meals and choosing my foods carefully.)
– One Consultant Gastroenterologist was suspicious of the results and had toyed with McArdle’s Syndrome, but as I did not display serious symptoms related to this went no further in that direction – but he was on the correct road at that time. ENT and Dermatology came next – for multiple allergies – positive for cats, dust mite, duck down & feathers etc – given desensitization injections over 3 months for this which made life a lot easier. At one stage it was suggested I might have ME (Myalgic Encephalitis) or at one stage even Munchhausen’s Syndrome was suggested – how way off the mark that was!
Finally, in 1997 I went to work in a Department which specialized in Vascular Medicine and the Consultant I worked with specialized also in ME, Raynaud’s, Vasculitis, SLE etc. He also had a very keen interest in Adult Metabolic Disorders and he was adamant I did not have ME. He was very suspicious of my symptoms and suggested I was referred to the Neurologists, who finally admitted me to hospital for tests. On the day I finally went in to hospital for tests I missed my bus from the centre of town to the hospital and decided to walk and climb a very steep massive hill, and how glad I am now that I did this – my tests were ALL POSITIVE that day, now we finally had lift off and no longer would I be accused of imaginary illness.
I had a surgical muscle biopsy that day also, which came back abnormal, but NOT CONCLUSIVE I was told – this biopsy was frozen after use and was not suitable for any further tests – they were also looking for the common myopathies instead of the rare ones. This was now the year 2000 and still no further forward with a positive diagnosis.
From about 1992 onwards I had several operations and procedures – varicose vein removals x 2, hysterectomy for abnormal hormone production, bilateral carpal tunnel operations and removal of a basal cell carcinoma from my back (sun damage related), all major surgery done under spinal anaesthetic as I was very opposed to general anaesthetic, which was lucky for me as my Consultant said I should not have any paralyzing drugs during surgery unless it was a life and death situation and care must be taken – another one of my instinctive survival decisions.
In 2000 I had to have a further varicose vein operation to repair a groin tie that had gone wrong and at that time my Consultant asked for a punch core biopsy from my other leg to be taken during this operation. This muscle sample was sent to Dr. John Land in London, who was researching VLCAD and other muscle disorders similar to this and after 18 MONTHS of waiting the final diagnosis came through – definitely VLCAD.
While I waited patiently for my diagnosis to come through, I continued to work full-time as a Unit Medical Secretary. When I was finally diagnosed with VLCAD in 2002 the relief was wonderful – this may sound really odd to normal people, but when you have waited 51 years to know the truth it was like winning the lottery. Having a firm diagnosis was incredible, I cried with relief when I was told – not that I am happy having this disease, but being able to now stick 2 fingers up to all those who snubbed me and did not listen to me all those years ago. Due to my husband’s retirement from the Fire Service that same year I was able to semi-retire from work and begin to understand my disease and deal with it the best I could.
I was told there was no cure and no available treatments for this disease. They could only offer me pain relief and perhaps dietetic advice. I started off on Tramadol 50 mg up to 4 times a day – self medicating according to the pain and how much I had done in a day. This worked very well for a long while, but over the last 2 years my pain has increased and I tire very easily. I am now on Tramadol SR 100 mg twice a day with 50 mg Tramadol backup and also take regular Paracetamol as required. The worst pain is limb pain – legs and arms and shoulders – this is constant, I actually dread to think about it if I had no pain relief available to me now. My work is becoming harder and I can only now type letters and do some clerical work, but as I work for the National Health Service UK I am very lucky and only now work 2 days per week, but due to my age and the progression of my disease I may not make my retiral date of 2012 and may have stop before that. I have had some light physiotherapy over the last few years which has been quite helpful, but given that I cannot exercise like normal people this service is not very helpful to me.
I have tried a product called Liquigen (looks like cream and tastes like cream – yummy), but again the cost is fairly high here in the UK, I am now thinking of trying this again as I can now get a reduced cost Medication Certificate to help with costs of all my medications. When I am 60 years old, in 5 years, I can have all my meds free – WHOOPEE – long time coming after working 44 years for the NHS.
Also I found a wonder product a couple of years ago – we always buy very good beds (orthopaedic types) for my back etc, but we discovered Memory Foam (NASA Space Foam) and we now use a mattress topper of this material which has been a godsend. It is so comfortable and has certainly improved my sleep and also my husband’s – so something to consider. I believe this foam is now incorporated in many new beds being part of the main mattress.
MY STORY IS DEDICATED TO ALL THOSE PARENTS WHO HAVE A CHILD WITH A METABOLIC DISORDER ESPECIALLY THOSE WITH VLCAD AND SIMILAR TYPES OF GENETIC DISEASE. I only discovered FODSupport.org a few days ago and am reading with interest all the emails sent to me, mostly about children with these diseases and I would like to dedicate my story to ALL THE PARENTS of these children, and hope that the following advice I give to them will help them deal with their children’s problems in the coming years.
I have survived to 55 years of age with this disease and it has been proved over and over again that my natural instincts have protected me and shown me how to compensate for my disease without me even knowing I am doing it. I suffered endless infections and illnesses over all this time and was treated with basic medicine at home and was never hospitalized (my parents had no knowledge of this disease or its existence – they both died before my diagnosis was made). Perhaps all of this has just been luck, who can tell. As far as I am concerned I have a great life and am grateful for this, I have no regrets whatsoever.
Let your children choose their destiny and do not force them into sports or pastimes that they cannot cope with just so they can keep up with the other kids on the block. By all means be protective when necessary as any normal parent does, but try not to wrap them in cotton wool, let them have their childhood as they will need those memories when they reach my age. Let your child’s body tell them when enough is enough and praise them for what they have achieved, but for their sake do not isolate them from the world around them. Obviously, there are things they will not be able to do, but there are a thousand more things they will be able to achieve in their lives.
I am a happy 55-year-old woman with 2 marvelous sons (albeit I have given them a faulty gene to carry around with them – they do not suffer from this disease) and a very understanding husband (not that he was always this way, but age has mellowed him). The chance of my sons meeting another person with this gene is millions or more to one so it is something that does not dominate our lives. My oldest son is married with 3 sons and no doubt he has now passed the gene on to them and so this disease marches on.
My bloods were sent to Denmark 4 years ago, but still no success with finding the gene or part of it that causes this disease, but I live in hope. Perhaps I will have departed this earth before it is found who knows, but I will sure leave my mark before I go.
As I have always loved Poetry and have written a number of poems over the years I would like to attach a Poem for ALL of you – I wrote this in the 60s when I was a teenager who, although living in a very small town in Scotland, was very affected by the Vietnam War – at the age of 16 years I could not understand why I wrote this poem, but I now realize why.
If anyone would like to ask me any questions or I can help anyone in the Support Group please do not hesitate to ask, as I cannot write my life story in 7 pages I may have missed lots of things out – I hope you will allow me to help in any way I can.
PEACE (1967)
IN THIS OUR SMALL AND QUIET TOWN, ON US ALL PEOPLE DEIGN TO FROWN, BUT BEYOND OUR SANDY COASTAL STRETCHES, LIVE BEINGS, DECEITFUL UGLY WRETCHES.
IN THIS SMALL PLACE WE ARE CONTENT, TO MIND OUR OWN AND PAY OUR RENT, BUT THOSE BEYOND FALL DEAD IN QUARRELS, THEY PAY IN BLOOD WITHOUT THEIR MORALS.
HERE OUR PEACE IS VERY COMMON, BUT THERE, IT’S ONLY FOR THE FALLEN, OH! WOE BETIDE US IF WE BECOME, LIKE THOSE WHO FIGHT WITH HAND AND GUN.
HELP US GOD IF WE DO FALL, INTO THESE HANDS BEHIND THE WALL, THEY WILL ATTACK AND TEAR ASUNDER, FIGHT AND BURN, AND WHOLLY PLUNDER.
PEACE WILL COME TO ALL SOME DAY, WHEN EVERYONE HAS GONE THEIR WAY, TO BOW AND BEG AND SWEELTY PRAY, BEFORE GOD’S FEET ON JUDGEMENT DAY.
by Aileen Ann McCrory (then aged 16 years) (now Mathieson) [Written in 1967 during the Vietnam War – applies also to Northern Ireland 1969 to the present day]
Aileen