So why do most doctors know so little about it?
Saturday, January 14, 2012
Surely hidradenitis suppurativa 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.
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.
I Was Certainly Not Looking for Another Undertaking
Over the years, awareness of hemochromatosis (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!
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.
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.
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. * Judging by her blonde colouring, I have even written to a good friend who is a doctor in Sweden, but he also could not find proof of any such details concerning this ghastly disease, which must be worse than leprosy.
I have read that Electron beam radiotherapy has been a successful treatment of hidradenitis, especially in Europe but it is not a common treatment option in most of the United States, 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.
That does not mean that Hemochromatosis 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 revolting 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.”
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 Hydradenitis supprativa, being genetic, is! Other members of her family 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.
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! Canada?
 * When Velpeau identified and described hidradenitis suppurativa. 1839, it was primarily found among families of Sephardic Jewish, Italian, Greek, Middle Eastern and Northern African ancestry.
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>