tag:blogger.com,1999:blog-88009425223141136152023-11-15T07:36:11.438-08:00This could well be the most awful “inheritable" disorder of all...Marie Warder.http://www.blogger.com/profile/01344053988898745021noreply@blogger.comBlogger2125tag:blogger.com,1999:blog-8800942522314113615.post-57604222254551777002012-01-14T13:21:00.000-08:002012-01-14T16:54:48.271-08:00This could well be the most awful “inheritable" disease of all.<br />
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<span style="font-size: 16pt;">So why do most doctors know so little about it?</span></div>Marie Warder.http://www.blogger.com/profile/01344053988898745021noreply@blogger.com0tag:blogger.com,1999:blog-8800942522314113615.post-69505422792063194412012-01-14T13:20:00.001-08:002012-01-14T13:20:23.650-08:00<!--[if !mso]>
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<span style="font-size: 14.0pt;">Surely <a href="http://en.wikipedia.org/wiki/Hidradenitis_suppurativa" target="_blank">hidradenitis
suppurativa</a> must be the worst genetic disease there is, and, ever since a
pretty blonde lady came to see me and told me that she had been unable to find
a doctor who knew anything about it (except the name), I have agonized about
the situation to the extent that I have been able to think of little else. To
add to her despair, none of those whom she has consulted even knew of a
specialist to whom she might be referred! The more she described what she was
going through the more agitated I became, and by the time she left I was so
deeply concerned that I felt driven to find out as much as I possibly could
about it.</span><br />
<span style="font-size: 14.0pt;">What I have learned is that hidradenitis
suppurativa is a chronic skin disease, one which does not become symptomatic
until puberty. But this is no ordinary skin disease. The nodules, which it
produces in many parts of the body, cause excruciating, chronic pain, severe
infections, and unsightly scarring, and, when surgically removed, grow back,
even reaching the size of baseballs. The afflicted victims will by then often
have become hermits because of the agony exacerbated by the unsightly scar
tissue, which may already have become skin cancer.</span><br />
<strong><span style="font-size: 14.0pt;">I Was Certainly Not Looking for
Another Undertaking</span></strong><span style="font-size: 14.0pt;"></span><br />
<span style="font-size: 14.0pt;">Over the years, awareness of <a href="http://blogcritics.org/scitech/article/hemochromatosis-experts-gathering-in-canada/" target="_blank">hemochromatosis</a> (HH) has greatly increased. While, sadly,
the gene for hidradenitis suppurativa has not been mapped, we now know which
nationalities are most at risk of developing hemochromatosis (the disorder that
caused the death of my beloved husband) and I never cease to give thanks for
these developments. But having devoted the greater part of my adult life to
creating awareness of the latter illness, I was certainly not looking for
another undertaking that would inevitably involve a great deal of my time and
perhaps become another obsession. However, I was now confronted with a very
tragic situation—and now I am hooked!</span><br />
<span style="font-size: 14.0pt;">After my visitor had poured out her heart,
described some of the effects of her disease, and confided that her mother had
not told her until the night before she died that she, her mother, was
afflicted with it, I have not been able to sleep for agonizing about my
desperate visitor for, by this time, she herself has a child with the prospect
of the same suffering in store for her. Ever since our conversation I have been
pondering what I can do, although that does not mean for one minute that
hemochromatosis will be neglected. At least, as bad as it is, there is nothing
revolting about HH, while that is certainly not the case with this other
affliction—so much so that the mother never discussed it with her daughter,
only admitting shortly before her death that she suffered from it.</span><br />
<span style="color: black; font-size: 14.0pt;"><br />
<span style="mso-spacerun: yes;"> </span></span><span style="font-size: 14.0pt;">Starting
my research by referring to Wikipedia, I found out that this is usually the
case with those afflicted with HS – they do not even tell the rest of their
family, "because they are too ashamed!" The disease is now known to
be an autosomal dominant disorder, in other words one which can be inherited
from a parent who carries only a single copy of the gene. It is not
infectious—a godsend because the suffering must be horrendous! Once thought to
be a rare condition, probably because it was so rarely reported, it is now
known that that is not the case and, for an unknown reason, women are several
times more likely than men to develop it. The cause is unknown but, as far as
I'm concerned, the fact that people can inherit it is bad enough.<img border="0" height="279" src="file:///C:/DOCUME%7E1/MARIEW%7E1.DRO/LOCALS%7E1/Temp/msohtml1/01/clip_image001.jpg" width="215" /></span><br />
<span style="font-size: 14.0pt;">Although the literature on the Internet seems
to support the fact that the autosomal gene has not yet been mapped, I did find
one reference in which the writer maintains that it has, but unfortunately
provides no details. It would help if one could establish the gene pool that is
at risk, but I've not been able to find such info for my distraught new
acquaintance. </span><span style="font-size: 18.0pt;">*</span><span style="font-size: 14.0pt;"> Judging by her blonde colouring, I have even written
to a good friend who is a doctor in </span><span style="font-size: 14.0pt;">Sweden</span><span style="font-size: 14.0pt;">, but he also could not find proof of any such details
concerning this ghastly disease, which must be worse than leprosy.</span><br />
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<span lang="EN-CA" style="font-size: 14.0pt;">I have read that Electron
beam radiotherapy has been a successful treatment of hidradenitis, especially
in </span><span lang="EN-CA" style="font-size: 14.0pt;">Europe</span><span lang="EN-CA" style="font-size: 14.0pt;"> but it is not a common treatment option in
most of the </span><span lang="EN-CA" style="font-size: 14.0pt;">United States</span><span lang="EN-CA" style="font-size: 14.0pt;">, as radiation oncologists generally refuse
to treat patients with non-malignant diseases because of the potential for
secondary radiation-induced tumors in the long term.</span></div>
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<b style="mso-bidi-font-weight: normal;"><span lang="EN-CA" style="color: blue; font-family: Garamond; font-size: 14.0pt;">NB</span></b><span lang="EN-CA" style="font-family: Garamond; font-size: 14.0pt;">. </span></div>
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<span lang="EN-CA" style="font-family: Garamond; font-size: 14.0pt;">That does not mean that <span class="yiv12433864">Hemochromatosis</span> will be neglected for one minute, but
ever since the distraught lady left I have been pondering what I now consider
to be the truth - that, at least bad as it is -- there is nothing <b style="mso-bidi-font-weight: normal;">revolting</b> about HH; which is certainly
the case with her affliction..... So much so that her mother never discussed it
with her or admitted that she suffered from it until shortly before her death. This
is probably explained by info on Wikipedia to the effect that “HS often goes
undiagnosed for years because patients are too ashamed to speak with anyone.”</span></div>
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<span lang="EN-CA" style="font-family: Garamond; font-size: 14.0pt;">I used to think that Leprosy was
the worst disease anyone could contract but these days, while contagious and
awful, it is treatable and is not to be feared by everyone in a family,
but <span class="yiv12433864"><b>Hydradenitis</b></span><b> <span class="yiv12433864">supprativa</span>, <u>being genetic</u>, is! </b><span style="mso-bidi-font-weight: bold;">Other members of her family<b> </b></span>are
not aware of what hangs over them, and most of the specialists this lady
has been to see, either had no knowledge of it, or brushed her off when
she went to consult them.</span></div>
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<strong><span style="font-size: 14.0pt;">Exploitation on YouTube</span></strong><span style="font-size: 14.0pt;"></span><br />
<span style="font-size: 14.0pt;">It was a huge mistake to consult YouTube at a
friend’s suggestion—not because the articles and images posted there for the
right reasons were so tragic that I wept, but mainly because, as is so often
the case, it made me livid to see, among those postings, the usual exploitation
of an illness for the purpose of marketing useless cures. Meanwhile there is
little I can do but try to promote awareness!<span style="mso-spacerun: yes;"> </span></span><span style="color: blue;"><span style="font-size: 14.0pt;">Canada</span></span><span style="color: blue; font-size: 14.0pt;">?</span><br />
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<span class="MsoFootnoteReference"><span lang="EN-CA"><span style="mso-special-character: footnote;"><span class="MsoFootnoteReference"><span lang="EN-CA" style="font-family: "Times New Roman"; font-size: 12.0pt; mso-ansi-language: EN-CA; mso-bidi-language: AR-SA; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-US;">[1]</span></span></span></span></span><span lang="EN-CA"> </span><span lang="EN-CA" style="font-size: 18.0pt;">*</span><span lang="EN-CA" style="font-family: Garamond; font-size: 14.0pt;"> When Velpeau
identified and described hidradenitis suppurativa. 1839,<span style="mso-spacerun: yes;"> </span>it was primarily found among families of <a href="http://en.wikipedia.org/wiki/Sephardic_Jewish" title="Sephardic Jewish">Sephardic
Jewish</a>, Italian, Greek, Middle Eastern and Northern African ancestry.</span></div>
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<span lang="EN-CA">HTML Article first published as <a
href='http://blogcritics.org/scitech/article/this-could-well-be-the-worst/'>This
Could Well Be the Worst Inheritable Disease of All</a></span></div>
<div class="MsoNormal">
<span lang="EN-CA"><span style="mso-spacerun: yes;"> </span>on
Blogcritics.</span></div>Marie Warder.http://www.blogger.com/profile/01344053988898745021noreply@blogger.com0