Ok I’m happy that I have a diagnosis. It sounds stupid. But I am. I am happy because I have been doing the right thing all along by not pushing my limits. I accept the fact that I should still exercise within my limits. But now I know I was right when I kept saying to people ‘No, the pain doesn’t go away, it doesn’t get better!’. I can say with all my sincerity ‘Shut the fuck up!’ next time somebody says something on this matter!
After browsing through dystrophy and myopathy catalogs, trying to match my symptoms and findings… Muscle biopsy lands the diagnosis: tubular aggregate myopathy. A rare type of myopathy with only major finding being the tubular aggregates in muscle fibres. I believe it is more common than they think. If you have this slow-progressive degenerative disease, you are most likely to avoid painful activities. Limit yourself to a life with little physical activity, find a job that doesn’t require muscle power, live a life with no so bad symptoms and never ever see a doctor for it. To be honest I wouldn’t see a doctor if it wasn’t the diagnosis my brother had (well increase in pain and difficulty climbing stairs during the last coupe of years of course contributed greatly to the decision of seeing a doctor).
It’s progressing slowly, in some cases not progressing at all. But one thing is for sure. If you think you are going to gain strength by ignoring the pain and overexercising, YOU ARE DOOMED. This is not Lorenzo’s Oil. This finding is established by patients themselves. When they overexercise and push their limits, the disease got worse (from what I read online). That said your TAM, may not be my TAM. I rock at toe-walking, you may not. I have fatigue, you may not. You may have lost your ability to walk, I did not. Two things remains the same. Firs one is the pain in skeletal muscles. Second one is the major finding; the tubular aggregates in both muscle fibres (EMG, EEG, CK levels may be normal). I should also note that mutations (oh yes baby, it is a genetic disorder) causing the disease could be both de novo or inherited. It can be autosomal recessive or autosomal dominant. It could appear only in males or it might hit both genders in the family.
What I am trying to say in summary, there are subtypes of this disease. I’m not sure if there is an official definition of these subtypes. It’s been around 50 years since first they identified tubular aggregates in muscle diseases, all credit goes to Enkel. As you can guess 50 years is a really short time to establish anything for such rare diseases. How would you get funded for it when it is this rare? No, no don’t loose hope yet. Advances in imaging techniques and genetic screenings are our allies. There are scientists out there who identified one or two potential candidates (mutated genes). I’m not saying there will be any drugs to ease the symptoms anytime soon. But I believe understanding the metabolism of the disease is one of the greatest cures one can get!
Here are the articles, sorted by date: Google Scholar.
It’s not deadly. If I take care, I will live a long, happy life in which I get to say many times to people who makes me feel bad about not being active in sports ‘Shut the fuck up!’.
Ok it hurts. It’s bearable but annoying. If you are a person who cannot scream like me, get ready shedding tears. They tried distracting me during the procedure, they did kind of an awesome job in that. But… oh dear… when they pull that muscle pieces out, I felt the entire muscle being torn apart from my knee all do way to the incision point.
It sucks that it will take a month for me to get the results. But can’t blame anyone. The decision making is done by professionals on different fields coming together once a month and going through all the cases for that month. The more minds on the case the better the decision I guess.
A month and then we will see if all is on my head, or the pain is real.
In the meantime lying in bed for the first couple of days, coughing, writing. Hah maybe they will also diagnose my recurrent upper respiratory infections 😛 Also learned today, I’m kind of toxicated by 1000mg paracetamol, had a good 5 hour sleep.
It was a very productive week after all… ANM calculations from 2µs GABAaR-ß3 simulation. Not so realistic cool dance moves, perfect for a Friday night.
Starting to feel like my brain is the crazy one here and there is actually nothing wrong with my body. Now I’m suffering from knee pain… I have been standing a bit more than usual, but so what! You don’t have to punish me for several days for that. I got the message already.
I came home early because of the pain with little motivation to finalise the analysis on GluCl, I decided to finish the project for the course ‘Software development toolbox‘. The course was very useful. I actually think I would do two PhDs within 5 years, if I had learned and applied all that. I probably should fail the course for delivering the project awfully late though.
Regardless for now I should focus on finishing the project, otherwise I’ll never start using github and I’ll never create proper documentation.
Here is the link to the project’s website: stb.proteinart.net .
It was an unsuccessful attempt to transfer hosting from NetworkSolutions to DreamHost. I simply didn’t back up my dear old wordpress site properly. How was I supposed to remember that I didn’t back up the database it was linked too? I never even looked at that database, since I used one-click installation.
Oh well! Fresh starts are always welcomed on my life. So I’m back!
Currently struggling with respiratory infection. Bronchitis, sinusitis, laryngitis, otitis… They formed the ‘Voltran’ and crucified me! On top of that I’m dealing with increased pain on my legs and knees. I got some blood tests, EMG+EEG. All was perfectly normal! I’m the healthiest unhealthy creature on earth! My metabolism is awesome. I don’t eat much fruits, don’t consume plenty of fluids, yet my kidneys are on fire and my vitamin levels are good. No indication of a neurological disorder. But the fact that I don’t have much strength was confirmed by the doctor and she asked for a muscle biopsy. She was astonished by my toe walking. She asked a few times if I was a ballerina or took any sort of dance lessons. No and no. I just loved walking on my toes since childhood. If my memory doesn’t play tricks on me, I think my mother mentioned once that they took me to a doctor to check whether something was wrong. I guess I’m just a natural unless it’s muscular dystrophy.
Dystrophy or not I had in mind some sort of a muscle+ tendon problem before I wen’t to the doctor. I’ll either confirm what I had in mind, thus being able to tell people ‘shut the fuck up, I’ll not do that’ in certain situations or accept that all is in my head, thus I should be the one ‘to shut the fuck up’. We’ll see in a few months (at least I hope to get an appointment for the biopsy soon).