Category Archives: Life is life… nothing else nothing more…

New Beginnings

Next destination University of Maryland… Excited for the things I will learn, and the new group I get to work with. Well was excited! Until I started making a list of things to do in order to move away! So I have decided I will share all this fuss with you all. This way it gets smaller and smaller leaving me excited again. So here goes my current list:

Continue reading New Beginnings

Great Expectations

Do I truly expect too much from people? A friend once said this to me. Perhaps my unhappiness or disappointments were connected to it.
Say you meet with someone who says he or she is OK with people’s choice in gender to have sex with. You also hear them mentioning someone being gay several times. Is it expecting too much of them not to point out that choice that many times if they are truly OK with it? Am I reading too much into the situation?
I just cannot wrap my head around it. I didn’t think the conversation we were having required any input on that certain someone’s sexual preference. No one on the table asked if they had a chance of an intercourse with him. There weren’t any other man involved with the story so no need to attach any adjectives to distinguish people from each other.
I wanted to be more aggressive. I just said something not well phrased, something like ‘well you have mentioned him being gay so many times maybe he picked on something and was offended’ and didn’t prolonged the subject further, because I was a guest in someone else’s house I did not want to upset. But seriously people what hell is wrong with you?

Panic mode: ON

Everything is fixed for the dissertation and I will be in panic mode for the next six weeks.

Luckily I know how to fight the chaos. With chaos! I bought kinect and dance central.  I don’t think I will rock the dance floor anytime soon but the pain on my muscles after playing the game will certainly create a distraction.

Oh and I still don’t know if I have a mutation in causing this long and painful cramps and sore muscles, because the last blood sample was not for the genetic test it turned out. She just ordered a test for liver function or something like that. I actually don’t know the results of that test either.  I hate the medical systems, not just here but everywhere. You have to talk to many strangers. There are days I can’t talk to people I know over the phone, but I have to call and talk to strangers. Brrr… I will just wait until I get another appointment from the doctor, she would get in touch with me if the results were not good. For the genetic test I have to wait a little longer.

What’s Happening?

Day 7

I actually feel fine. I spent the day sleeping with high-fever. Oddly enough I didn’t have fever till today. I woke up to eat food only and drink some water. At 5pm today, I woke up again for dinner (only to realise that I have slept too much and my brain forgot how to function) with no ear pain, no blockage. Sure I still have my sinuses full and my usual tinnitus level but my ears…

The long standing problem I had with them… Could this be the end of it?

As I was told, I have bilateral hearing loss, cookie bite shaped. It’s hereditary and I should not worry about it at all. I kept it checking with this awesome program:  Hearing Test . I was convinced that after a year of no change in the level that it was something I always had, even tough it was discovered after a long lasting respiratory infection. Today for the first time my hearing did increase. I only have a dip at 2 kHz. The rest is pretty close or above 20dB.

Have I finally grown up and fighting back with those bacteria? I wonder whether that 2 kHz dip is related to a damage by infection. Let’s see if I can preserve this level.

I have the urge to write to all the doctors I have seen so far and say politely that they were wrong!


Dairy of a Survivor

Day 5, still keeping my hopes up. I’m not a zombie yet. Not a vampire either, I still don’t shine under the sunlight. I might turn into a werewolf tough, I am getting allergic to my silver jewellery. Perhaps it’s against all the jewellery not particular to silver. I’m getting a bit sick of people fighting over so called treasure.

I have come to realise that my immune system didn’t actually kick in much. I did get some IgM perhaps but IgG is not going to be produced anytime soon. Today, my right ear is fine without any medication. But my left ear is as bad as yesterday. So I will go back to pseudoephedrine and paracetamol.

I said hello to bronchitis symptoms today. How lucky I am, my larynx was spared this time. From today on I will determine a category for my respiratory infections. It is such a big part of my life, it truly deserves its own channel.

I have finished the Black Mirror series on Netflix. It’s mesmerising! It is dark, twisted and futuristic. Do not be fooled, it is today’s life with a fancier touch.

Happy Back to the Future Day! We haven’t got everything they predicted but at least some of it.

Love microbes

On the bright side of being ill, I have a chance to do Korean Drama Marathon. This time it was “Secret” and “Producers”. No I don’t recommend you to watch “Secret” unless you are sick and you just need noise to be around. “Producer” was bearable but it ended so abruptly. Watch “It’s OK, It’s Love” or “Master’s Sun” instead they are much better. Being ill also gave me the chance to level up in Diablo 3. Now that my immune system kicked in, I get headaches and feel tired.

Day 4, this time my immune system reacted on Day 4. I’m of course not counting the days where I only had a sore-throat and did everything in my power to prevent it. I tell you nothing works. If it’s gonna take over your ears, nose and throat, it will take over your ears, nose and throat. I envy people who takes one aspirin on Day 1 and they are ok the next day. This virus is quite different than the rest tough. Past couple of years, I got used to starting with laryngitis and then having all the other -itis on the side. This one decided it will just mess my sinuses and ears.

It left me in pain with completely blocked ears for days. Not exaggerating the blocked ears. My hearing was impaired. Right ear was hearing 20dB less then usual, which would place me on the age of mid hearing loss. Left ear was still on the mild range as its used to be. I usually take pseudoephedrine and I feel better after. This time nothing helped. Not to mention the pain and the tinnitus.

Now that my immune system kicked in and it’s fighting, they are a bit better. But I have a headache that is not helped by paracetamol. I have never ever had a headache not cured by 500mg of paracetamol.

Talking this long about a simple respiratory infection, as you can guess I am quite bored. I gave blood samples for genetic screening last Friday. They are going to sequence my STIM1 gene. Hurray!!! Since I got the diagnosis as TAM, my doctor looked up some articles and decided that I should get this gene screened for mutations. Well I, of course, knew about this gene all along. But I try not be a know-it-all at the doctors office. Not always helps, like during my last visit to ENT. She spent 30 seconds on my diagnosis. She has an underbite. Her tinnitus and pain must be caused by the jaw. I hate to say it but it was bullshit. My jaw had nothing to do with it. Sure I might have predisposition due to the anatomy which would include my jaw shape but tinnitus and all that problems started after long lasting infection. It’s most likely eustachian tube dysfunction. Diagnosing yourself doesn’t go beyond guess since I can’t take a CT or MRI to rule out anything else.

I should get rich and invest to the labs for the analysis of my upper respiratory infections. Or just wait for the STIM1 sequence. If there are mutations to it, it would explain my problems with them. I hate being sick. It hurts and nothing helps. I cannot even use onions for cooking when I’m sick. They burn like hell when I chop them.

Got the diagnosis…

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!’.