My mcardle disease and me.

I have the mcardle disease with an end table according to the scale of Martinuzzi placed me in 3. 

My life with the disease. 

Children.

From just three or four years and I noticed that something was wrong. I went legs, twisted, I got tired. They thought it was foot and I ended up putting templates and wearing orthopedic shoes through adolescence. I remember not being able to run and quickly exhausting me as a child. I had trouble climbing stairs and ramps. Then I became aware that I could not do the same things that other kids my age. In gymnastics at school could not jogging and some exercises noticed that the arms were losing strength until you can use them for a while.

Adolescence.

With 12 years another doctor said he did not take them again that he had not managed to template but did not know what disease he had. This doctor gave me a paper not to do gymnastics at school, just stretching. It points me to the school football team but could not run. He could ride bikes but soon came to hundred meters pains me and stopped pedaling, I recovered and back again.

With 14 school we hiked to the Montseny mountains and we went walking along the paths with a brutal goat pending until its peak. I had severe pain, but got to the top the second of the whole group; to have killed me think today. The disease was becoming more. You could walk 300 meters before symptoms appeared streets and even climb stairs was always a serious problem. At 18 I joined the gym. Was strong but felt that doing repetitions finally lost strength and sometimes almost agarrotarme. After exercise noticed that my urine was completely dark, like Coke, and I thought it was no exercise by the unknown disease. In one of the exercises I broke my pectoral muscle increased by two or three size for the injury and had to leave.

Youth.

With 20 years he could still lead a normal life doing some short stop after walking to recover and return to continue. My illness even went unnoticed for my environment. They knew he could not run, which tired me to climb stairs and streets killing me but I could still walk long enough to go anywhere near. The episodes streets or climbing stairs began to present extreme symptoms of seizure, strong fatigue, dizziness, etc. At work, construction, walked a lot during the day, always dirt floors and constantly climbing steep slopes. He suffered pain and stiffness and lunch at work we went to a nearby restaurant and always had me wait. The climb stairs and climb ramps, streets, etc, always was a serious problem. And the disease progressed. Discovery of my possible illness. At 22 I made ​​the Social Provision Substitutionary in lieu of military service. I made ​​it into a federation of disability. These associations had one that was the subject of metabolic muscle diseases and saw that my symptoms were very similar to their affiliates. As could no longer go to the gym I started doing more gentle exercises at home every day to try to prevent loss Strength suffering out more.

At work the problems started and were increasingly visible. Still working in the building sector.In the work around was an effort and ends in strong pain and stiffness. Walks on site and the ups and downs of the field left me broken in pain and stiff accompanied by a strong fatigue and dizziness. Efforts to end up in arms seizure. And my hands every day agarrotaban and could not open. My coworkers quickly realized that something was wrong. The problem came when it was just to make some effort at work, something that was very difficult for me. Hardly a day that did not quite sore and stiff house. And rare week that he had no injury to your muscles on both arms and legs. Another added problem at that time was unaware of the need to be well hydrated. In the work you do much exercise, sweating, hot and not always have water handy, so always thirsty. And at bedtime I had trouble getting to sleep for the inconvenience. At night the pain of injuries prevented me rest and took many hours to fall asleep.

In his thirties.

Arriving at 30 I could barely walk more than 100 or 200 meters. He tried to walk more slowly or stop to counteract the effects. In many cases of physical exertion with arms ending in strong jamming. Walk to the metro, go get the car parked next home or a car park, rides to go to a bar or restaurant, walks with friends, shopping, etc, were already complicated issues requiring frequent stops to recover. Any ride became something unpleasant. At home began to notice that shower, dry my hair, dress, peeling potatoes I assumed an effort. Walking and talking were strong words, I could not breathe until having to stop and take a breath stoop to try and recover. From here the evolution got worse very quickly. Each time they could walk less meters. The pain was becoming more intense and constant stiffness. The work was unbearable, my body did not allow for more. Bend squat for measuring, staking or carry the device topography was a problem because the effort to get up so extreme I seized up throwing hours to recover and be able to stretch and move, so I always helped with hands and I am on your side with legs outstretched as possible. On several occasions I was with stiff legs so they could not enter the vehicle, having to wait up to two hours for me relajasen muscles and could flex them with his hands and into the car to go home. The worst was when I worked in construction works and had to walk up the stairs (the elevator is not installed until near the end) to go to a plant or all. At night the pain of injuries sustained by the performance of my work kept me sleep peacefully and relax so much that when I managed to sleep the answer in the form of natural soothing body breaks sometimes prevented me listen to the radios.

In the quarantine.

Now I just spent 40 and to give you an idea I can barely walk 20 meters normally, seconds after pain that quickly rises (micro-breakages throughout the muscle) is presented and within seconds my muscles completely seize up by muscle tear . If I get to ultimately held at the hospital. Cut potatoes, onions spades, hold a pan with tortillas, shower, dry my hair with the dryer, walk the floor just over the account, are everyday things that cost me or me or me tired muscles seize up. Climbing stairs and nor do I speak, it is very painful and pulse I shoot 160 and 180 ppm, a floor is the ceiling. Go metro moving through corridors and up stairs I shoots and taking precautions, just with fever and dizzy, even sometimes in the subway and the bus if I'm standing they have given me fever and dizziness and I had to sit on the floor as I I could. I try to catch the bus that I have close to home and goes to the city center. And if the bus does not go where I go I transfer to another bus to make a journey that always leave me streets above where I go and not have to climb streets. Go to buy is something unpleasant and whenever I take some weight bags I seize up and I can not open them in half an hour.And try to run or even think.

My disease diagnosis.

Nearly 40 I went to the doctor to see if they could diagnosticármela. I was convinced it was a metabolic muscle disease of genetic origin, so a glucogenosis, and so I explained it to my GP and explain the symptoms and why I was so convinced. I explained all my symptoms and 22 years performed the social benefit rather than the military, and I made ​​a federation of disability, and among them was a trying these diseases. So I squared my symptoms to the disease, but obviously did not know without a genetic study that guy was. The doctor referred me to a neurologist from the ambulance, then this neurologist at the hospital where I had several testing and including fitness test with blood samples for half an hour in batches while applying force my hand to a kind of lever similar to that used to exercise the muscles of the hand hand. They saw that did not produce lactate and I did genetic testing determining who had the disease mcardle. From here and on medical advice change my life to avoid as far as possible episodes of seizure with muscle damage and rabdiomiolisis and finish on the hospital.

Medical management of the disease.

From here the pulmonologist made me breath tests repeated every 6 months to see how it goes the diaphragm (muscle lung). Analytical to monitor renal function and CK makes me the doctor every two or three months, but every time they leave high asks me something other analytic for one or two weeks to see if it has been for some time effort and check that down to reasonable levels for my disease. Luckily in my medical center there is also an emergency center which has an analytical apparatus to realize I instantly and see CK, renal function, etc, and I can go if I have a severe episode of seizure and then refer me to the hospital.

My CK in a routine laboratory have been 400 while less but are always between 2000 and 3000, and even 24000. He reached 100,000 and 200,000 Ck by intense efforts lasting just seconds. I have been repeatedly hospitalized with serum and even probed and drinking water constantly (4 liters / day) bedridden hospital stays between 2 and 5 days, so that once I was discharged with 100,000 Ck once urine was normal and the tendency of CK was down. The CK halve every 24 hours. I asked for time to nutritionist to make me a diet rich in carbohydrates to help me better tolerate exercise. For years I always drink plenty of water (4 l / day) and me take a spoonful of sugar dissolved in water before making any effort or exercise, before leaving home to go somewhere or I took a Coke if I'm in the middle to reduce fever and dizziness when walking longer distances than my body can handle. Recently I always carry a capsule glucose that I can take over instantly without relying find a place to buy a sugary drink. And when I got home I always drink sugar water when I get dizzy and / or dry mouth. Since my diagnosis disease doctor recommended I go. So once a week soil make 2.4 kilometers in one go though very slowly, avoiding pain and stiffness. This level cardiovascular exercise helps me keep or prevent reduction of aerobic capacity in addition to exercising muscles. Yet every time I find it harder exercise.

Now also I make light anaerobic exercises to try to maintain muscle strength. And I have incorporated these routines eccentric exercises that require less effort and significantly reduce the risk of injury and are widely used by athletes.

We are very few who have this disease, about 260 diagnosed in Spain, so your doctor did not know anything about your disease will become an expert in it and be a common effort. The medical protocol for collecting rare diseases that physicians should listen to the patient, their most valuable and almost sole source to determine effective monitoring. Here you also must learn to explain your symptoms and under what circumstances it occurred some pain and / or breakage. If you learn some medicine on glycogen and your illness can speak more with your doctor better understand your illness and know what you can and can not do.