Rare Conditions and/or illnesses

[nick46928]

Im miffed as to why you seem so defensive though?

Sorry, I am not trying to act defensive. Just a sore subject for me I guess. In the past I have had a lot of people assume I can't do my job because of my age.

[Timmy]

The day I started my clinical placement at our local hospital the paramedics were preparing a kid about my age to be flown to the Royal Children’s Hospital because he had Alport Syndrome and was experiencing hearing loss and blurred vision.

[Dustdevil]

Sorry, I am not trying to act defensive. Just a sore subject for me I guess. In the past I have had a lot of people assume I can't do my job because of my age.

Well, this thread has taken an interesting sidetrack.

Nick, I have no idea what the "House" reference meant, since I don't watch TV, but the word that xselerate boldfaced in your quote was misspelled. Then you responded with an inappropriate, "Don't take my admitted lack of experience as a lack of knowledge" comment. He wasn't talking about your experience, unless you mean your experience with the English language. So now you have not only misspelled a very simple and common word (and obviously not by accident), but you have completely misunderstood a subtle hint about it and taken it to mean something completely different.

Then Bushy comes along and makes a complimentary comment about you, and you go off on him as if he had attacked you, which is really perplexing. That is more than just a little defensive. It borders on the offensive. At least I am pretty sure that you won't have to worry about Bushy taking your side anymore, if that offends you. :?

Nobody here has a problem with a lack of experience. We are especially impressed with those who come here seeking knowledge like you. Those are the people who tend to make the most of their experiences and do well. That is what Bushy was trying to say when you went off on him. Out here where I work, we call that "friendly fire." You pulled the trigger before you had clearly identified your target, and you shot the wrong guy.

These are things that identify an immaturity that will slow down your professional progress. And, if you don't knock the chip off of your shoulder, you will find a partner to do it for you. Mellow out. You've already admitted your inexperience, and we all appreciate and respect that, because too many people are unwilling to do so. Just go with it. You do seem to be a smart guy. Don't let attitude sink your potential.

And BTW, there are several Nicks here, one of which is a 17 year old, so it was a natural mistake, but again, Bushy was trying to compliment you, not trash you.

[kristo]

Just to get this thread on the original track, how about cortisone reductase deficiency? Basically, it's a mutation in a gene that codes for an enzyme, cortisone reductase, which reduces cortisone to cortisol. This leads to a lack of cortisol. Since cortisol is an antagonist to insulin, this causes insulin resistance (diabetes type 2)

As if that's not enough, cortisol also regulates the secretion of adrenocorticotropic hormone, which makes the body create testosterone. In the absence of cortisol, the body makes too much testosterone, which makes women infertile...

The disease also causes abdominal obesity, high cholesterol levels, high blood pressure, the list goes on and on. This is one golden zebra, though.

[AZCEP]

Why do you want to know more about disease processes that you will never likely have to deal with?

Uncommon presentations of common disease is more likely than a common presentation of an uncommon disease.

Focus on the things you are likely to see. Learn how to manage the basics to the point of automaticity, then concern yourself with the unusual. Pick up any medical text and you will find that they spend most of their ink talking about the things that are most likely to present themselves. There is a good reason for this.

[Dustdevil]

Just to get this thread on the original track, how about cortisone reductase deficiency? Basically, it's a mutation in a gene that codes for an enzyme, cortisone reductase, which reduces cortisone to cortisol. This leads to a lack of cortisol. Since cortisol is an antagonist to insulin, this causes insulin resistance (diabetes type 2)

You encountered this in the field? And I know this isn't the misdiagnosis thread, but what was your working diagnosis before getting the labs?

[kristo]

You encountered this in the field? And I know this isn't the misdiagnosis thread, but what was your working diagnosis before getting the labs?

Heh, heh, no. I've never seen a patient with this condition in my whole life. It's just an example of a rare disease. The original poster did state that "any interesting condition is fine" and also said "I kind of have a curiousity for illnesses and conditions that aren't very common."

This disease won't be diagnosed without extensive lab work, working diagnosis would be diabetus mellitus, type II, or polycystic ovarian syndrome (PCOS), or just unexplained, unusually high testosterone levels. The connection to EMS would mainly be the insulin resistance thing, this might be something EMS would have to respond to...

For the ones that do seek medical help (probably more because of the insulin resistance than the other symptoms), I believe that the connection is not always made by the practitioner. The increased testosterone levels cause problems like unwanted facial hair in women, which is usually managed cosmetically. A lot of endocrine things can cause high testosterone levels. The infertility can also be caused by a number of things, for example PCOS, which is, in that aspect, and in testosterone levels, similar to cortisone reductase deficiency.

As a student, and (mostly former nowadays) SAR/W-EMT, most of what I can contribute to conversations like this is theoretical. I do hope that some will find the cortisone reductase deficiency thing interesting. Maybe it's just me being a geek. :wink:

Edit: One thing you *can* do to test a patient for this disease is to administer cortisone and check before and after ratios of cortisone vs. cortisol in a blood sample. There are some baseline numbers on how fast a person should reduce cortisone to cortisol, if your patient is way off, and shows the symptoms, you might have your diagnosis.

[kristo]

Another unusual condition, and this time one that I did encounter in the field.

A 17 y/o female complaining of mild respiratory distress, getting SOB while walking up stairs, things like that. No history of respitatory diseases in her or her family.

She'd been drinking pretty much non-stop for about 36 hours, then stopped, and after a few hours, she felt SOB, nothing in particular made it better or worse. She preferred to sit in an upright position and lean forwards, no surprises there.

No extra sounds in her lungs or airway (according to the *bad* cheapo stethoscope I had there). We took her to the sick bay of a ferry this happened in, where I started administering high flow oxygen. There was no pulse oximeter available, although there should have, according to laws on ships that size, so I couldn't get O2 saturation levels.

Upon oxygen administration, her fingers became numb. We tried withholding oxygen and have her breathe in a plastic bag instead. That worked better. We gave her an antacid tablet, and after a few minutes of breathing into the bag, she was fine. Apparently, she was suffering from hyperventilation secondary to heart burn caused by all the drinking.

[Dustdevil]

That brings up a good point that always bears reiteration.

Hyperventilation is very, very frequently misdiagnosed in the field.

Yeah, this probably belongs in the misdiagnosis thread, but seriously... I have seen a LOT of people treated as major medical patients when all that was wrong with them was simple hyperventilation. So, as somebody else already said, don't get so caught up in rare conditions that you forget to play the statistics and look for the more likely causes.

[nick46928]

Then Bushy comes along and makes a complimentary comment about you, and you go off on him as if he had attacked you, which is really perplexing. That is more than just a little defensive. It borders on the offensive. At least I am pretty sure that you won't have to worry about Bushy taking your side anymore, if that offends you. :?

I am sorry to anyone that I may have attacked on this thread. I know this is no excuse but I was having a bad couple of days and I guess I kind of projected my anger on to people that were innocent. Again, I apologize to Bushy and everyone else.