Hi

Hi I've just found this site and was diagnosed with Vlcad Deficiency only 18 months or so ago?

This could be a bit long and if so I apolgise but as I don't know of many people...if any with this deficiency I'll give a histroy of my symptoms and what eventually led to the discovery of this apparently rare condition?

I am a married male with two kids one of 22 and one 17, a boy and a girl.

49 years of age and was diagnosed with it aged 48.

Briefly as I can I'll describe my history and experiences with it?

I had a perfectly normal childhood with no illnesses whatsoever, and was very active as a child out most days running and playing like most kids.

At school whilst not being particularly 'sporty' I did enjoy and excelled at, long distance running, cross country running, and for the latter part of my teens I raced bicycles winning a local inter schools time trial for my school.

I left school and worked various jobs before my final job at a local Papermill wher I've been for the last 30 years.

In the early nineties I got heavily into weight training, purely from a personal enjoyment thing and no steroids or any type of drug were used att any time, I was training at one point 4-5 days a week for approx' an hour and a half religously and following a relatively low fat high protein diet.

Approx' two years later on one of our workouts, we decided to change it as we were becoming too used to it and neither myself or my training partner were feeling any improvements were being gained.

After this work out we both had muscle soreness which we expected as we'd changed things, however mine felt unusually sore and next day I could barely move, more alarming was my pee....it was nearly black!

I immediately booked an appointment with my local doctor and they took some urine samples.

On my return for the results she asked if I exercised a lot, I said I did and she said that confirmed what the test results comfirmed and that there was a lot of muscle breakdown in my urine. She advised me to 'lay off on the training, and let your body recover'' which I did and soo things were back to normal, this would be in about '94.

After this I would get occasional bouts of this soreness but not always and rarely severe, (Although I didn't know what 'severe' was then.)

occasionaly though the pain would be so bad I'd literally crawl upstairs to the bathroom, my pee would be really dark, almost black, and staining the water, but as I now understood it was just through ''too much exercise'', or so I thought, I'd just lay off training for a bit and then start once I was feeling less stiff and sore.

Around '98 I joined a local rock band and my training kinda took a back seat, I put a bit of weight on but was fine with no instances of the pain, but as I was no longer really trainining this didn't come as a surprise, although in all honesty at the time I didn't even see the pain or discoloured pee an issue anyway, after all I'd seen a doctor and just assumed it was just a by product of overtraining! :/

A couple of times I did experience the return of this pain one was when decorating a friends room, I worked constantly that day, up and down ladders, with not a lot of food or drink, that night the pain returned with a vengeance and I simply put it down to lack of exercise making it worse, similarly when helping another friend dig footings for a shed he was erecting I got the pain and discoloured urine again this time so badly the next day I couldn't even pick the shovel up and so had to go home and rest up.

That would be around 2004-05, then in 2007 myself and a group of shift mates decided to go on a 'Fell walk' which is just a walk in the hills and mountains near where I live in the English Lakes, we decided to go up a simple but long walk that families and novices often use up a mountain called 'Coniston old Man'.

http://www.lakelandscape.co.uk/walks/conoldman.htm

It was cloudy when we set off up the mountain and the top was swathed in cloud obscuring the views unfortunately but I felt fine and there was no problem whatsoever.

As we descended the other side however the sun came out and it got really hot, plus as it was a realtively steep descent all your weight was on your quadriceps and I could feel my thighs cramping and stiffening up as I walked, -Great, I'm gonna be really sore and have funny coloured pee after this!- I remember thinking to myself.

Nearing the bottom I was beginning to lag behind the others, a couple came back and we carried on but by now most of my muscles were cramping quite badly, by the time we returned to the car park I was feeling a bit worried myself, the pain although the expected muscle soreness and cramp was unlike anything I'd had before, this was seriously sore, and my arms were literally closing up by themselves as the muscles cramped, also my heart was hammering like hell in my chest as well as feeling clammy and sweaty.

I had to be driven home as I couldn't even drive my car, getting home I fell agianst my drivers car wing and literally just could not move...not one inch!

Luckily a neighbour was out in the garden and he and my friend half carried, half walked me into my house.

Collapsing on the sofa, and my heart still pounding I lay for maybe an hour before crawling, literally to the bathroom, my urine was near black and it was like passing Blackcurrant in the bowl.

My wife came home and played hell about me overdoing it again, and ran me a hot bath to help my muscles.

After this I felt a bit better and at least could move again albeit still very stiff and sore.

Next night I had a gig at a local pub and my wife wanted to cancel it, but me being 'apha male' stupidly insisted on doing it, saying ''I've had this before, it'll bo ok and I'll be fine''.

On arriving at the gig though the cramps returned with a vengeance, I couldn't even bend down to plug my guitar leads in, through the course of the gig I must've drunk around six to seven pints of iced water and sweated gallons, when we finished even the bar staff and landlady were asking if I was ok...I looked that rough.

That night I couldn't sleep, I'd been to the toilet a couple of times, but it was stomach cramps that were keeping me awake, my wife wanted to call the doctor out, but again I refused saying I'd be fine.

By morning things hadn't improved and my wife said enough was enough she was calling the Doctor wether I liked it or not!

The Doc' came and gave me a check over and then asked when I'd last passed water!

At the time I thought -What kinda question is that!- but the more I thought about it the more I wasn't sure, I knew I'd gone in the morning but the rest of the day?

He decided to send me to hospital ''Just for a quick check'' much against my wishes, hell I'd never been ill or anything like in my life, but between himself and my wife they persuaded me to go.

On arriving in medical admissions I was given a canula in my hand, and then put on a drip, after an hour of this...and still expecting to go home they then informed me that there was no way I'd be going home, and that I was also going to have to be catheterized!

I was stunned and not a little scared as never having been in hospital this was unnerving to say the least.

Things started to go downhill pretty quickly after this, it was now Sunday, the walk had been on the Friday, the gig on the Saturday night, I was put on a drip as it was felt I was quite badly dehydrated, the catheter was out in and then they got a bit worried themselves as nothing at all came out!

Due to my naievety I said that I simply didn't want a pee, to which they replied that it didn't matter once the catheter was in anything in there would have to come out as it went straight to my bladder or whatever, still being totally ignorant of any serious problems I just simply 'went with the flow' if you'll excuse the pun.

I was then moved to the High Dependency Unit, (HDU) just so ''they could monitor me mre closely and not to get worried'' this i did as I simply had no idea what the hell was going on.

I think I must have took a turn for the worse around then as the next thing I remember was being woken in the early hours by a masked figure with a torch light in my eyes asking me to please wake up as they had to carry out a procedure right then.

I must've been pretty much gone as I know it didn't bother me as they put a 'central line' into a vein in my neck...I'm pretty sure if i had been a bit mor 'compus mentis' I'd have been scared witless!

The central line allowed them to monitor my core body readings and also easily admininster any drugs, thet found that I was 'profoundly dehydrated' which accounted for the 8 litres or so of fluid they'd put into me over the last few hours...and still I had not passed any water!

The next morning I was taken to intensive care, again I wasn't concerned mostly to my sheer naivety, I was told it was'' just because they had better equipment for me in there.''

The doctors and nurses were execellent in ICU and actually found me a novelty as most folk in there were so seriously ill they couldn't have conversations due to their illnesses, the male nurse took my wife to one side ''Just to explain what was going on and he'd be back in a minute'' so I just sat there watching the doctors and nurses go about their business.

The Nurse came back minus my wife, ''She's just gone to get you some more stuff and will be back shortly'' was his response to my question as to where she was.

He then went on to say I was the talk of the path lab due to my CK count in my urine, I asked why and he said it was the highest count they'd ever seen in the hospital, I don't know what it's measured in but the figures were over 180,000 which at the time meant nothing to me until he said that in what is regarded a 'normal' person the range would be 150-300!

I asked if this was correct as it was so astoundingly high and he said that yes it was indeed correct as they'd repeated the tests and count four times!

Anyway it was around this time I began to pick up on a phrase being used by the doctors and nurses as they worked around me....''Renal failure'' now this I knew had something to do with my Kidneys but again never realised just how serious this was, (Sometimes ignorance is a blessing!) I was put on a filtration device to try and help my kidneys, I remained in ICU for approx' a week before my kidneys suddenly started to work again and I began passing urine...lots of it.

I had a pretty rough time, good days and bad, my body ballooned with all the water retention, I had feet like the Elephant man and went up to over 16 stone which was quite a leap as I'm normally anywhere between 14-15 stone normally, when I left my weight was down to 14 stone.

My kidneys were scanned and no signs of damage were found...amazingly, and thankfully.

Finally I got to go home and was off work for around three months in total.

I had what seemed a battery of tests done and had developed a condition called ''Rabdomyolosis,  http://forums.steroid.com/showthread.php?t=391892'' when my Kidneys had failed, they'd actually gone into ''full renal shutdown'' and when the nurse had took my wife to one side to ''Explain what was going on'' he'd actually explained that at that moment in time, although I was fully awake, chatty, and seemingly in good health, they were very concerned as my major organs were in danger of shutting down, I think it was something to do with Potassium levels?

Needless to say my wife was a bit upset at this and so a friend had come to pick her up and then dropped her off later.

My own doctor has since told me that if my wife hadn't insisted on getting the doctor when she did, (On the Sunday) by the Tuesday I would most likely have died!

So...anyway on one of my many visits in the weeks after coming out of hospital, one doctor had said that the ''good news is Mr Douglas your kidneys have made a good recovery and you shouldn't experience the cramps etc again, this sort of thing is quite rare and if you get it once you won't see it again.''

I looked at him and said ''But I do get it, usually after exercise or hard work, but I get it fairly often, enough that I konw the signs and what to expect, just never had it as svere as this time''

He was genuinely surprised at this and I recounted the tale of the discoloured pee, and cramps at which poing he said there may be an underlying problem that they need to get to the bottom of.

Over the next year, 2008 I was in and out of hospital for various meetings with specialists, and tests, a biopsy, none of which came up with anything conclusive although one hospital was beginning to suspect a gene deficiency or malfunction.

I was finally put in touch with a professor in Newcastle hospital wh was very interested in my case and he became involved, it was he who succesfully diagnosed this Vlcad deficiency.

Since all this I have a better understanding and the need to keep well hydrated and have been advised to try and stick to a very low fat diet, (Which I admit I'm totally crap at sticking to!) I've had two instances since, both due to me getting dehydrated and both times I self medicated by drinking copious amounts of water, basically my signs are muscle cramps, dark urine, either or both mean my kidneys are starting to possibly block again, by drinking copious amount of water I seem to flush them out, my urine starts to go lighter and the pain subsides.

So all in all quite an adventure I guess, but I have it quite mild and to be honest it doesn't even enter my head 90% of the time, sometimes I'll get really wiped out or feel really lethargic and that too can be a sign of havng overdone things but honestly?....I'm in a lot better shape than most so I'm grateful for that.

If you've stuck it this far, thanks for reading and I look forward to maybe comparing notes with other people who maybe have had similar experiences...or diet tips...LOL!

 

 

Saulhudson Saulhudson
46-50, M
10 Responses Feb 22, 2010

Hi please join our organisation we can support you, I have vlcad myself and set up a support foundation. you will find us on facebook called the metabolic foundation. thank you.

I have VLCAD and only diagnosed 2 years ago at age 30 after birth of my second son- I don't know anyone else with this and could do with finding someone on hear like yourself to help with tips on diet and experiences :) many thanks

Hi Saul,<br />
<br />
I have also been recently diagnosed with VLCAD aged 64. Like you I had episodes from my teens onwards and always when I had done too much or not eaten. I associated it with not eating and whenever I felt it coming on - usually stiffening of leg muscles - I got something to eat and it went off in 24 hours or so. From my 30s onwards I had occasional episodes that went beyond mild stiffening, especially if exercise or not eating was combined with stree, but I never went to the doctor as it had always gone off by the time I could have got an appointment. In 2003, however, I had a major episode at an airport when I could not move my legs at all and my breathing was very laboured. I was rushed into hospital and taken into cardiac care when they saw the CK count (14,000). When they realised it wasn't a heart problem they treated me for a pulmonary embolism and finally I became their 'lady of mystery'. By then I was recovering, my kidneys were fine and I was sent home. Eventually a consultant insisted it must have been a virus, completely ignoring my insistence that this had happened before. Then in 2009 it happened again. Within 30 minutes I went from normal to being stuck on the settee unable to move and really struggling to breathe. I was never so glad to see my mobile phone had been left on the settee because I could not have reached the landline which was only two steps away.<br />
Again I was in hospital for a week but this time they did a muscle biopsy which proved nothing and I was referred to a consultant in London. To cut a very long story short I had a third major episode on the very day I went to see him to get some test results. This time I had a very high troponin level as well as the high CK and even he was convinced I had a severe heart problem and rushed me into cardiac care. Fortunately he was wrong, although it's worrying that my heart muscle had been affected to raise the troponin level, and many specialised blood tests etc followed so that nearly a year later I got the diagnosis. That was eight years and seven months from being hospitalised the first time. Like yours mine is a 'mild' case but I dread to think what a severe one is like. I follow the low fat diet and always have lucozade in the car and at home and glucose tablets in my bag as I have been advised to flood my system with glucose if an episode starts. My consultant has given me a letter to carry at all times which states what treatment I need on arrival in hospital and gives his mobile number. My GP has also recommended I wear a Medic Alert bracelet in case my breathing is so bad that I cannot explain about the letter. My neighbours also have keys to the house in case I cannot let in the paramedics when they arrive. I feel much happier now I have the diagnosis, but only time will tell if the diet etc will prevent more episodes.

Enjoy all the stories gives me an idea of what to look foward to with my 5 month old daughter. Thankx everyone. God bless u all n good luck.

Cheers Weesey1, in what way have your symptoms got worse, and over what time period?

Hi I'm Leah (41 year old female from Australia). I am also a late onset VLCAD case, and my story is very similar to yours except that my CK levels "only" reached 69,000 and I didn't have to undergo dialysis because I was so sore that I had to get an ambulance to drive me into the the hospital as soon as the episode started.<br />
<br />
When my symptoms started I was about 20 and I put my muscle soreness down to being unfit, which would make me push myself further. It wasn't until my second hospitalised case of Rhabdomyolsis that questions started being asked, and it took a further 12 months for a diagnosis after this.<br />
<br />
It is great to hear of other late onset cases, as so much information is out there for parents of diagnosed babies, but not much for us. Like dutchvlcadd, my condition has gotten worse over time, and I have to be very careful these days with making sure that I eat before, during and after exercise (I am a mad, keen bike rider).

Hi Leah I'm 32 and I was diagnosed only 2 years ago and I am looking for other sufferers to help me with diet tips and just general support. Many thanks Gem

yes let's keep in touch :)

Thanks guys, yeah it is nice to put a name to it and more importantly get some kind of understanding around it, take care and keep in touch?

Hi,<br />
I'm from Sweden and I was diagnosed with vlcad two years ago at the age of eighteen, though I have suffered from the disease since I was only fourteen months. I was relieved when the doctors found out what caused my problems. I guess it's easier when you got a name on the disease and you also found out that your not alone. <br />
Thank you for sharing your story. Take care and good luck with everything

hi iam wouter from the netherlands iam 31, i got vlcad to i have it for 16 years now but i know that i have it for about 4 years .And its way worse than 16 years ago. but iam not gonna write a hole story for now cause this is my not my langauage and its a alot of afford to write it so that some one can understand . thats no trouble if some one replys but i had so manny times that no one replys so ,, but i didnt read about mct oil its a mid chain fat oil to cook and eat as olive oil . its the first thing my dr subcrided to me . so iff you wanna know more or you want me to tell more let me know , good luck keep on smiling and fighting