[Phil rosenstein]

This is right up my alley. I assume many other DM2 patients as well. It has never been from friends or family though.  DM2 is kind of like many cases of multiple sclerosis and a few other diseases in that strangers will look at me and have no idea that I have this condition. I appear to be like every other healthy person. I have had neighbors or strangers ask my wife why she was shoveling all the snow or mowing the grass. “Your husband should be doing that”

I usually don’t park in the handicapped parking spaces, but I occasionally use the handicapped placard when I am not feeling well. And there have been times when I get a stern look from someone who thinks I’m just a selfish jerk.

And there have also been times when someone asks for help lifting something and I then have to opt out gracefully or explain that I cannot because of the DM2 (which I would prefer not to do). This has actually happened a lot.

So, no, my friends who know and my family have never underestimated my condition and symptoms. If anything, my friends and family usually try to baby me. It is just acquaintances and strangers. And that is simply because I do not look like a person with a condition.

[Phil rosenstein]

Yes. I have had two swallow studies. The most recent one showed food and fluids going down the wrong “chute”. They get almost to the vocal chords (which they said is the point of no return) before my muscles catch it and force it back up and then down the correct “chute”.

She gave me several exercises to practice. The most helpful one is where I get a mouthful of water, then gently press my teeth down onto my tongue to hold it in place and then swallow the water. It is harder than it sounds. But, I do this every day, sometimes twice a day and it has gotten easier over the last year.

The result I have seen is that I cough A LOT less while eating. It has been very noticeable.

[Phil rosenstein]

It is actually funny you mention this. I just turned 50 three weeks ago.  And I just had my first colonoscopy last week. I did things a little differently than most Americans. I did it without anesthesia. That is how most people do it in Europe, but in the USA less than 1% of people do it without anesthesia.

 

I chose this way because I don’t have anyone to give me a ride to and from the hospital and that is required by the hospital. They don’t even like people using a taxi service – they were worried I would fall asleep in the taxi or would fall getting out of it or would fall in my home before getting to the bed. They really wanted me to get a ride from a friend or neighbor or someone else I trust. I figured I use to be an endurance athlete and I have a high threshold for pain, I can handle it.

 

So I chose to do it without anesthesia. I had read articles written by others who have done it this way. And thankfully my experience largely lined up with theirs.  It really wasn’t bad at all. The entire procedure took 20 minutes. For 19 minutes, the pain level was at or below 1 out of 10. There was a minute or so where the scope has to go around some bends and the pain would reach maybe 5 out of 10. A bit tougher but still certainly manageable.

 

The anesthesiologist was there in case I changed my mind in the middle. He said there wouldn’t be that much difference he would use for me versus an average person. He would just use a different drug and use a lower dosage. So, the muscular dystrophy patient might not be completely unconscious like many of his average patients are. He made it sound like it is no big deal for him to have to deal with the recommended guidelines for the muscular dystrophy patient.

[Phil rosenstein]

I have one brother who is three years younger than I am. He has not been tested. He does not want to be tested. He does not want to know.

In his favor, he has not had any symptoms yet. But, he is now approaching the age I was when I first diagnosed. So he is not out of the woods yet. But, frankly, if he does start having symptoms now, there really isn’t much point in getting tested. Because we will all know what is causing them. My father had two cousins with DM2, two uncles with it, his father and finally myself. At this point it would be fairly easy to figure out what would be causing his symptoms.

So, no he has not been tested. He does not want to be tested. But, honestly, he probably does not need to be tested.

[Phil rosenstein]

In hindsight, the IgG deficiency and resulting repeated bouts of pneumonia was the first clue I Had DM2.  It took another ten years for the fatigue, muscle weakness and muscle pain to arrive – still no myotonia.

In January 2016 my father passed away. The day before he died they took a blood sample. A month later the results come back and find out he had DM2. They said his children had a 50/50 chance and so they should probably be tested too. I looked online at the symptoms and determined that I had none, so I figured I’d save the money and not get tested. In January 2017, pretty much out of nowhere, I checked online again and had all the symptoms except myotonia. I don’t remember the website I went to, but when I saw IgG deficiency listed as one of the top 5 symptoms I knew I had to have it too, since IgG deficiency is so rare.

[Phil rosenstein]

I don’t Want to discourage anyone from getting the pneumonia vaccine, but I will share my experience. I had pneumonia 5 times in 7 years roughly ten years ago. Each time, I asked the doctors why I got it and they said it was just bad luck. Each time they gave me the vaccine. Until I finally had a GP test my immunoglobulin levels (IgG specifically). Long story short I have IgG deficiency.

This is tested for by measuring your pneumonia titers in your blood and then giving you the vaccine. Then three weeks later they measure your titer levels again. They should all be much higher since you just had the vaccine given to you. Mine were all the same or lower – and way out of range for normal results. So, basically IgG deficiency means your body “forgets” how to fight off a certain infection the next time you encounter it.

It turns out IgG deficiency is a well known feature of myotonic dystrophy. So that is why the vaccine never helped me fight pneumonia off the next time I encountered it.

Now, having said all that, I do still get the flu shot every year and next week I will be getting the shingles vaccine. I do not know if the flu and shingles are any different than the pneumonia vaccine. But, they are cheap and easy and painless and my doctor basically said “It couldn’t hurt and it may help”.