My girl-friend has Addisons Disease, and I would like to know more about
it. I don’t have any kind of medical background so if you know about this
disease, please keep it somewhat simple. Thanks!
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Uucp: …{gatech,ames,rutgers}!ncar!asuvax!stjhmc!157!3!Bill.Schwartz
Internet: Bill.Schwa…@f3.n157.z1.fidonet.org
> My girl-friend has Addisons Disease, and I would like to
>know more about it. I don’t have any kind of medical
>background so if you know about this disease, please keep it
>somewhat simple. Thanks!
Addison’s disease is caused by partial to complete failure
of the adrenal glands. The adrenal glands are endocrine
(read: work inside the body) glands perched on top of the
kidneys. They secrete hormones that address three general
classes of functions:
(1) The glucocortocoids – these promote the processes in the
body that make energy from fat and protein (rather than
carbohydrates), they increase the ability of the skeletal
muscles to maintain contractions and avoid fatigue, they
control inflammations (swelling caused by injury or
irritation), and they promote the production of certain liver
enzymes.
(2) The mineralocorticoids – these hormones maintain normal
blood volume, promote sodium and water retention and increase
urinary excretion of patassium and hydrogen ions.
(3) The androgens – simply put, these are the hormones that
separate the men from the women. Certainly less important
in your girlfriend, their absence will upset the hormonal
balance nonetheless.
Addison’s disease typically produces such effects as weakness,
fatigue, weight loss, nausea, vomiting, anorexia (no appetite
for food), and chronic diarrhea. There is also a somewhat
conspicuous bronze coloration to the skin (looks like a deep
suntan) and a darkening of the insides of the cheeks. Scars
can get darker, and the skin over the knuckles and elbows can
get darker. This coloration is caused by the upset in the
balances of the hormones the adrenal glands would normally
be producing.
Also, Addison’s disease can lead to low blood pressure and a
decrease in the pumping ability of the heart. Your girlfriend
will be less tolerant of stress. You may notice a decrease in
hair growth under her arms and in the the genital region. It
may also decrease her desire to have sex. She may crave
salty foods. Her coordination may decrease.
Things to know and remember:
She will be on steroid therapy (to replace the substances the
adrenal glands were making) for the rest of her life. You may
have heard of bodybuilders using "steroids." The drugs your
girlfriend will be taking are altogether different. They
only have in common a general chemical structure called a
steroid ring. Everything else is different. Do not
confuse the two.
She must take these medications under fairly close medical
supervision. She cannot discontinue their use (and not get
very ill as a result), period. When she is stressed, she may
have to adjust her dosage (upward). Strongly encourage her to
stay in close consultation with her doctor. If she gets a
cold, she may need to adjust her steroid dosage.
She must eat a diet that maintains sodium and potassium
balances in her body. If she hasn’t already talked this over
with a Registered Dietician that specializes in these kinds of
diets, find one. If she has no appetite, encourage small
frequent meals, keep snacks around.
She should carry a medical identification card (or wear a
braclet or pendant) stating what drug(s) she takes and the
dosage. She might want to discuss with her doctor having a
prepared syringe of hydrocortisone (a steroid, fast-acting) in
an emergency kit in case she gets caught in a stressful
situation away from immediate medical care. She should
learn how to self-administer the injection (maybe you
should too).
Having said all that, this is a managable problem. With
appropriate, well-managed hormone-substitution therapy, the
prognosis is excellent.
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Uucp: …{gatech,ames,rutgers}!ncar!asuvax!stjhmc!382!70.0!Richard.Dewald
Internet: Richard.Dew…@p0.f70.n382.z1.fidonet.org
> My girl-friend has Addisons Disease, and I would like to
> know more about it. I don’t have any kind of medical
> background so if you know about this disease, please keep
> it somewhat simple. Thanks!
Okay, assuming you’re not in the mood to peruse dusty (or semi-dusty) medical
texts or a few dictionaries… and a LOT of people are pretty put-off about
doing this anyway…
Addison’s disease is a physiological problem first described by a Thomas
Addison back in the 1800’s. That is, it affects functionality within the body
somewhere.
The area of effect is a very crucial part in human physiology: the adrenal
glands (sometimes described as the adrenal complices or, simply, the adrenals,
or even the suprarenal glands (depending on what kind of physician or
anatomist or histologist or physiologist you ask). Now, I don’t want to scare
you off with all of the marvelous processes which occur in order to generate
the neurosecretions that cause the adrenal hormones to be formed, but suffice
it to say that the adrenal glands are a major secretion point of various
metabolic hormones that your body needs to grow, regulate, and revitalize
itself, both on a daily basis and on an extended length sort of deal.
Addison’s disease specifically targets the adrenal CORTEX, the outer layer of
the adrenal glands which produces what we call corticosteroids. Now… what do
you know about steroids, and sterols in general? Ever heard of cholesterol?
Yes? (good! just having a bit o’ phun! =(:->) ) Anyway, cholesterol is an
important precursor for various metabolic macromolecules in the human body,
and it is the biochemical basis for many of the steroid hormones in the human
body. What cholesterol contributes is basically its aggregated ring
structures, which get modified a bit to form the corticosteroids (they’re
called corticosteroids because they are secreted by the cortex of the
adrenals, BTW).
Even more specifically, Addison’s disease deals with a deficiency of two
corticosteroids: cortisol (or hydrocortisone) and aldosterone. Don’t be
put-off by the fact that your girlfriend is suffering from steroid
deficiencies and certainly don’t advise her to take anabolic steroids (the
kind used by unscrupulous bodybuilders and child athletes; anabolics are very
similar to androgens, another form of steroid hormone (that’s right, still
derived from cholesterol) that includes testosterone and dihydrotestosterone
and which actually form the biochemical basis for later formation of
estrogens)!
So what’s so great about cortisol (or hydrocortisone) and aldosterone, anyway?
Aldosterone is pretty important because it helps to regulate blood pressure,
sodium concentration, and potassium concentration in the body, and
specifically through the kidneys (the adrenals are located just above the
kidneys anatomically). Aldosterone generally acts to stop the loss of sodium
via the urine; so lack of aldosterone will cause excessive sodium loss ==>
your girlfriend may have cravings for salt as a result. Also, because of
aldosterone’s involvement with positive blood pressure (keeping it up) and its
production being stimulated by angiotensin II, its absence will also result in
a low blood pressure (hypotension) and also perhaps low body temperature.
Cortisol generally opposes the effects of insulin, so if you’re aware of what
happens during diabetes, then you just have to "reverse" it to sort of see
what happens with a loss of cortisol.
Other effects of Addison’s disease, again related to these deficiencies, are a
general weakness and fatigue, and skin pigmentation of unusual
characteristics. The two hormones help people to handle stresses, both
physical and mental, that they encounter in everyday processes, so if your
girlfriend is subjected to lots of adverse stresses (overwork, frustration,
infections, a cold going around in the office, etc.– anything), it’d be a
good idea to help her cope somehow without further agitating her.
Treatment for Addison’s disease generally consists of giving the patient the
missing hormones and checking to see if there has been any adrenal damage from
an autoimmune reaction (ie. the immune system of the patient actually
mobilizing to attack the adrenal glands!) or adrenal TB (I think this is
pretty rare these days…). Often, hormones from the pituitary gland (like
ACTH) will be overproduced, causing other problems (like the skin pigmentation
mentioned earlier).
I don’t want to frustrate or scare you, but Addison’s disease sets itself up
to be a chronic condition, with episodes called Addisonian crises that pop up
every so often. Things like dehydration (remember biochemistry? no? well,
anyway, sodium will draw water out with it, esp. when crossing biological
membranes, like in the kidneys, thus producing LOTS of urine and dehydrating
the patient) and confusion may occur, along with the other symptoms (the
headaches, the muscular weakness, the low blood pressure, the low body temp,
etc.). Chronically, you’d see weight loss, listlessness and/or tiredness,
general weakness, and sometimes a sort of generalized, vague abdominal pain.
Frankly, it’s been a long time since I’ve thought about Addison’s disease, and
I hope that this quick msg helps you to piece a few things together. I guess
the main things to do is watch your girlfriend carefully to make sure she’s
okay; keeping her well-hydrated and unstressed and generally happy are pretty
nifty ideas. And, of course, nothing beats having her check with her physician
periodically and making sure she gets her compensatory medicine.
If you’re confused about anything in this msg, feel free to ask! I’m pretty
much available now, because I don’t do much in the summer (no patients to mess
with =(:->) ) except hack out more online games and muck about in DoD…
–
Uucp: …{gatech,ames,rutgers}!ncar!asuvax!stjhmc!135!105!Steve.Lin
Internet: Steve….@f105.n135.z1.fidonet.org
Tay Sachs is a genetic disorder that is fatal. There are no known treatments,
and the diagnosis is often made at about 6-12 months of age. The child is
fine up until then. A cherry red spot on the retina develops (classic sign),
and neurological symptoms intensify. In time, the disease affects the
heart rate and breathing, and the child dies. You can learn more by calling
your local March of Dimes, or Easter Seals office.
Renee Roberts
In article <42…@cup.portal.com> Re…@cup.portal.com (Renee Linda Roberts) writes:
Tay Sachs is a genetic disorder that is fatal. There are no known treatments,
and the diagnosis is often made at about 6-12 months of age. The child is
fine up until then. A cherry red spot on the retina develops (classic sign),
and neurological symptoms intensify. In time, the disease affects the
heart rate and breathing, and the child dies. You can learn more by calling
your local March of Dimes, or Easter Seals office.
It’s also worth noting a few other things about Tay Sachs. It mostly occurs
in children of parents of Jewish ancestry (primarily eastern European I seem
to recall). It is IMHO a moral obligation if one is Jewish and thinking of
children to be tested for the Tay Sachs trait. Tay Sachs is recessive
and only if both parents have the trait will the child have the possibility
of having the disorder.
If both parents have the trait then the child has (some correct me if
I got this wrong) a one in four chance of inheriting both recessive
genes and having Tay Sachs.
At the risk of resparking an unpleasant debate, IMHO Tay Sachs is one
good reason for an abortion. There is no good excuse for forcing a
child to live through such a thing or ruining the parents lives.
Tay Sachs children live to a few years of age.
–
Douglas S. Rand
Internet: <dsr…@mitre.org>
Snail: MITRE, Burlington Road, Bedford, MA
Disclaimer: MITRE might agree with me – then again…
Amateur Radio: KC1KJ
In article <DSR.91May9120…@mir.mitre.org> d…@mitre.org (Douglas S. Rand) writes:
>It’s also worth noting a few other things about Tay Sachs. It mostly occurs
>in children of parents of Jewish ancestry (primarily eastern European I seem
>to recall). It is IMHO a moral obligation if one is Jewish and thinking of
>children to be tested for the Tay Sachs trait.
There was a recent news item describing a high incidence of Tay Sachs
disease in the Louisiana Cajun population, where it’s been locally known
as "lazy baby disease." A team from Rutgers(?) identified the disease,
which has been tentatively traced to a single German ancestor back in the
19th Century. The situation is made much worse by the highly inbred
population.
–Pat Wilcox (wil…@cis.ohio-state.edu)
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Four stages of acceptance: (J.B.S. Haldane, Journal of Genetics #58, 1963)
i)this is worthless nonsense; ii)this is an interesting, but perverse, point
of view; iii) this is true, but quite unimportant; iv) I always said so.