Alexander Palace Forum

Discussions about the Imperial Family and European Royalty => The Stuarts of Scotland => Topic started by: Helen_Azar on January 07, 2005, 06:16:22 PM

Title: Did Mary Stuart & descendants have porphyria?
Post by: Helen_Azar on January 07, 2005, 06:16:22 PM
This topic began on the "Relation to Alix" thread and we decided we need a separate thread for it.  Here is what we have been discussing:

Mary Stuart is the direct ancestor of all British monarchs who came after Elizabeth I. It is common belief that she had suffered from porphyria, a metabolic disorder that can cause mental illness, and passed it on to her descendants, most notably to George III ("Mad King George"). According to the book THE PURPLE SECRET QV's daughter Vicky (of Prussia), her daughter Charlotte and grandaughter Feodora all had porphyria.  The author also speculates that Tsarina Alexandra may have had this disease too, undiagnosed, based on her symptoms...  
The book says that at some point, Erika Hagelberg, one of the scientists on Peter Gill's team (the team who did the Yekaterinberg bones identification) had offered to do porphyria analysis on Alexandra's sample. It is unknown (at least to me) if these tests were ever done.

The last posting on the other thread on this topic was:

bluetoria
------------------------------------------------------------------------
I don't think it's mentioned anywhere, but I have pondered this a great deal. Alix's symptoms fit almost exactly to many of Vicky's...and it would explain a great deal about her assumed hypochondria. I have also wondered about QB and thyroxine deficiency..,which would be equally telling in Alix's tiredness etc....  

Carry on...
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: Helen_Azar on January 07, 2005, 08:40:17 PM
I just realized that this topic actually began on "Relation to Alix" thread, so I fixed it.

Goula, thanks for this info. It certainly sounds plausible that Friedrich Wilhelm I had this disease as well...  which would actually mean that both of Kaiser Wilhelm's parents had the disease!
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: bluetoria on January 08, 2005, 06:06:18 AM
I didn't think Alix was mentioned in 'Purple Secret' - though I no longer have the book with me. I just recall when reading it that several of the symptoms seemed similar to Alix's especially her sometimes near-hysteria. Poor Charlotte of Prussia (Saxe-Meiningen) seems to have suffered terribly according to the book which accounts for most of her bizarre behaviour. Perhaps it could also account for some of Alix's difficulties...especially her inability to walk much of the time and her flushes and nervousness.
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: Martyn on January 08, 2005, 09:18:17 AM
Quote
I just realized that this topic actually began on "Relation to Alix" thread, so I fixed it.

Goula, thanks for this info. It certainly sounds plausible that Friedrich Wilhelm I had this disease as well...  which would actually mean that both of Kaiser Wilhelm's parents had the disease!


That is really incredible if true.  So both Fritz and Vicky may have had the disease?
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: Helen_Azar on January 08, 2005, 09:34:59 AM
Quote
I didn't think Alix was mentioned in 'Purple Secret' - though I no longer have the book with me.
Oh yes, she is certainly mentioned - a lot! Pp. 242-44, 270-92.  
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: Helen_Azar on January 08, 2005, 09:35:54 AM
Quote

That is really incredible if true.  So both Fritz and Vicky may have had the disease?


Yes, according to this book this is a possibility.  

Although I have to add that in the book, the author does not exactly say that Fritz mayhave had it, just Vicky. But if Fritz was Mary Stuart's direct descendant, and she is the one who passed it on to everyone else, and if Fritz had exhibited some of the symptoms, then it's possible.
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: Martyn on January 08, 2005, 09:48:42 AM
I really will have to check this book out.  It sounds really interesting.
Does the topic begin with George III or with Q.Victoria?
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: Helen_Azar on January 08, 2005, 09:56:17 AM
Quote
I really will have to check this book out.  It sounds really interesting.
Does the topic begin with George III or with Q.Victoria?


George III. Yes, it's an intersting book, although I have read it in bits and pieces up until now...
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: bluetoria on January 08, 2005, 10:07:43 AM
I liked the book a lot but I became rather depressed reading again and again and again of Charlotte & Feo's very unpleasant symptoms!!!
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: ChristineM on January 08, 2005, 10:53:35 AM
Dear Bluetoria

An entire chapter of Purple Secret (Chapter 11 - Alexandra, Russia's tragic Tsarina) is devoted to the subject of porphyria and the possibility of Alexandra Feodorovna suffering from variegate porphyria.

Indeed the same book deals, in some depth, with the likelihood that Marie Stuart suffered from porphyria.   In 1960, a  mother and son, British psychiatrists of German Jewish origin, first suggested that George III was not mad, but suffered from an hereditary disease - porphyria.   Although Macalpine and Hunter died before completing their work, they believed they had successfully traced porphyria back to Marie Stuart and her son James, and also projected it forward to a number of the children of George III.D

Antonia Fraser is of the opinion that Mary's father, James V  manifested the symptoms of porphyria and expresses the likelihood that Mary inherited the disease from him.   In her book 'Mary - Queen of Scots', Fraser comments that 'after a robust childhood, Mary Stuart's general health began to show cause for concern in adolescence.'   It is extraordinary that doctors, even in those days, explained  Mary's complaints of heartburn, indigestion and vomiting, as being due to her hearty appetite  leading to her overeating...   in a thirteen year old?

Mary Queen of Scots has been described as 'one of the great invalids of history'.   By her early 20s, her symptoms included gastric ulcers, rheumatism and hysteria.   As well as suffering bouts of abdominal pain, lameness, fits and episodes of mental disturbance since her teens.

During two serious episodes she experienced severe pain in her side, continuous vomiting, lameness as well as mental disturbance and fits.   On one occasion she lost both her sight and the power of speech.

There is no record of the characteristic urine colour in the case of Mary Stuart, but in the case of her son, James (VI and I), his dark red urine was likened to the 'colour of Alicante wine'.

The conclusion among medical historians is that Mary Stuart did suffer from porphyria and her biographer Antonia Fraser has little doubt that Mary's delicate health can be explained by this diagnosis - a delicate health which was ultumately ruined by the physical rigours during the birth of her only son, James.

tsaria
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: Helen_Azar on January 08, 2005, 11:01:15 AM
Thanks, tsaria. It certainly sounds like Mary Stuart had it. I will go back and read the parts in the book that I haven't read yet, that deal with her. I wonder how far  this disease goes in the various royals, since it seems it didn't even originate with Mary but that her father had it. I wonder whom it originated with. This is very interesting.
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: bluetoria on January 08, 2005, 12:43:45 PM
Thank you Tsaria. How strange that I have no recollection whatsoever of that chapter about Alix; all I can remember are the stories of Geo. III, Vicky, Charlotte 'the brat', Feo & her cousin, Ada & the more recent Duke of....wherever who died in the plane crash (Gloucester?). I wonder if I read an earlier version or something...or if I am just amnesic!! I must find the book again. I read another recent biography of Mary Q. of S. which like the Antonia Frazer one supports the opinion that she had porphyria.
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: ChristineM on January 09, 2005, 01:46:28 PM
Dear Bluetoria

It was Prince William of Gloucester,  killed in an aircrash in the early 1970s, who was the last member of the British Royal Family to be diagnosed as suffering from  porphyria.

His mother  (Princess Alice, Duchess of Gloucester who died recently and whose  passing was commemorated on another thread of this Forum) according to Purple Secret,  sought medical advice.  She had grown increasingly concerned by the unexplained rashes in the form of blisters on her son's forehead, backs of the hands, the chest and sometimes on the back.    The blisters were quite large and left behind dark spots which could take a long  time to disappear.   Sometimes the prince was left permanently scarred by these blisters.

A diagnosis of porphyria was made and further confirmed by another two, independent medics.

The sum of Prince William's symptoms were typical of the disease.   Alongside general malaise, he suffered bilious attacks, weakness of the muscles and a fragile, sun-sensitive skin.   He also had high levels of porphyrins in his characteristically dark coloured urine.

Prince William was thirty one when he was tragically killed.   His younger brother, Richard, inherited the title Duke of Gloucester on the death of their father, Prince Henry, third son of King George V and Queen Mary.

The presence of porphyria can be dated to James V   father of Mary Stuart, (and, who can say, maybe even earlier).   It is extraordinary - not to say fortunate - that after, at least, four hundred and fifty years, this unpleasant, potentially fatal disease would appear to have died out with the passing of William of Gloucester who died unmarried and childless.

tsaria



Title: Re: Did Mary Stuart & descendants have porphyr
Post by: ChristineM on January 09, 2005, 02:53:00 PM
Dear Martyn

I am moving your question re Princess Margaret and porphyria on to this thread.   The following is   extracted from 'Purple Secret' from Chapter 12:  The Ghosts of Windsor -

Princess Margaret:

'In his book 'Margaret - The Tragic Princess', James  Brough recounted an extraordinary story that had been told to him by two Fleet Street reporters.   One of the reporters had heard a rumour around the time of the break-up of Princess Margaret's marriage in the mid-1970s that she ha been treated for porphyria by a leading specialist*.   Could Princess Margaret have had,  or still have, porphyria?   Brough attempted to explain her character and activities in the light of the rumoured diagnosis of porphyria.   He noted that she always wore special makeup for protection against the sun, suggesting that, like certain porphyrics, she was hypersensitive to sunlight.   It is known that she avoided taking sleeping pills even though she often had trouble sleeping, perhaps because she knew that the barbiturate-based tablets would provoke an acute attack.   The princess had a spell in hospital in 1967 which was attributed, in part, to excessive weight loss through dieting.   Maintenance of constant carbohydrate intake is recognised as an important aspect of controlling porphyric attacks and reduciing diets are known to be precipitating factors in porphyria.   If this were the case, then she would have been advised to embark on a high-carbohydrate diet in order to prevent future attacks of porphyria, and this could explain the princess's subsequent weight gain.   Needless to say, this was all conjecture on the part of the biographer.

James Brough also wonders whether Prince Charles's interest in and admiration for George III might be related to his sympathy for his aunt's condition.    This is unlikely, especially if Princess Margaret were (sic) not diagnosed until the mid-1970s, several years after the Prince wrote his foreward to John Brooke's biography.   It is far more probable that the Prince of Wales's public acceptance of the porphyria theory stemmed from the revelation that another close relative of his was clinically diagnosed with variegate porphyria in 1968.'

*James Brough 'Margaret:  The Tragic Princess' (London 1978), pp. 236-49

All very tenuous.   As far as I can recall, Princess Margaret's admissions to hospital were usually explained as being due to her heavy cigarette smoking.

tsaria
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: Robert_Hall on January 09, 2005, 03:10:23 PM
As well as her most unfortunate mishap with the bath.
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: ChristineM on January 09, 2005, 03:12:02 PM
Dear Martyn

Touchee!
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: bluetoria on January 09, 2005, 05:06:41 PM
Thank you, Tsaria, for your interesting information.
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: ChristineM on January 09, 2005, 05:34:48 PM
Bluetoria - you are very welcome.

tsaria
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: AGRBear on January 09, 2005, 06:30:07 PM
Is/Are there any other possible dieases and/or  mental disorders other than porphyria which would give a person the same symtoms?

AGRBear
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: bluetoria on January 09, 2005, 06:31:59 PM
Thyroxine deficiency?
Title: Re: Did Mary Stuart & descendants have porphyria?
Post by: AGRBear on January 09, 2005, 06:47:01 PM
I went and looked up porphyria and there were about as many symtoms as we have opinions here on this forum.

What symtoms are you talking about for Mary, George III and Princes Marg. which most of you seem to agree they may have had in common?

Purple urine?  Mood swings???

I and others know nothing about porphyria or "thyroxine deficiency"   so I'm just trying to get a grasp on all of this so I and others can understand.

Thanks.

AGRBear
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: bluetoria on January 09, 2005, 06:52:47 PM
It seems to me that nowadays we have labels for everything. Everything has to fit a syndrome or something. In the past people were just 'under the weather' sometimes. This doesn't deny the possibility of an actual illness, just that it doesn't take into account individuality etc. Everything being so finely balanced in the human metabolism makes it impossible to make a clear diagnosis, don't you think?
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: Martyn on January 10, 2005, 10:50:14 AM
Isn't it rather unusual that there seems to be no link sufferer in between Victoria and William of Gloucester?  Does that mean that the gene was transmitted from father to son through three generations?  No female members affected?
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: Helen_Azar on January 10, 2005, 10:56:56 AM
Quote
It seems to me that nowadays we have labels for everything. Everything has to fit a syndrome or something. In the past people were just 'under the weather' sometimes. This doesn't deny the possibility of an actual illness, just that it doesn't take into account individuality etc. Everything being so finely balanced in the human metabolism makes it impossible to make a clear diagnosis, don't you think?
 I think that there really is a physiological reason to explain everything, except that it often affects different people in different ways because of individual physiological factors involved. Now that statement just really explained everything!  ;) ;D
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: Helen_Azar on January 10, 2005, 10:58:32 AM
P.S. I am pretty sure, based on reliable sources, that Pss Margaret didn't have it...
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: Martyn on January 10, 2005, 11:01:26 AM
Quote
 I think that there really is a physiological reason to explain everything, except that it often affects different people in different ways because of individual physiological factors involved. Now that statement just really explained everything!  ;) ;D


Good grief my head is spinning now!
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: AGRBear on January 10, 2005, 11:51:55 AM
Yes, Helen,  that was great.   ;) ;D

A Laughing Bear
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: ChristineM on January 10, 2005, 03:09:48 PM
Dear Helen

You are absolutely right - a great deal depends, not only on the severity of the illness, but on an individual's ability to cope with it.   It is known to skip generations and there is a number of precipitants, e.g. a change of diet, or through use of certain drugs.   Alchohol is a major contributor.

I brought up the topic of Princess Margaret and porphyria in response to Martyn's question after discovering it was Princess Margaret's own biographer, James Brough, who raised the possibility of her suffering from porphyria.   It would be interesting to know the identity of your own 'reliable source'.   I think it unlikely she suffered from porphyria.   This is an uninformed opinion.

Porphyria is a horrible disease manifested by many and various symptoms.   I am sure you will agree it should not  be dismissed as just 'feeling under the weather' and is in no way amusing.   Sufferers are frequently labelled as hypochondriacs which is cruel in the extreme, since, in its severest form, it is extremely distressing and dibilitating both for the victim and for their carer.  

tsaria  

Title: Re: Did Mary Stuart & descendants have porphyr
Post by: Helen_Azar on January 10, 2005, 04:36:00 PM
Quote
 It would be interesting to know the identity of your own 'reliable source'.  
 
Hi tsaria,

I sometimes correspond via email with Margaret's authorized biographer, who was also a friend of hers for many years before her death. I once asked him about Margaret having porphyria because I heard that she may have had it. According to Margaret herself, she did not have it, and it doesn't seem that she would have had any reason to cover that up...  

Title: Re: Did Mary Stuart & descendants have porphyr
Post by: ChristineM on January 10, 2005, 05:15:26 PM
Thanks for that Helen.   As I said, I doubted she had porphyria.   Goodness knows she was plagued, especially in her latter years, with major, non-porphyria associated illness.

tsaria
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: Martyn on January 11, 2005, 07:34:41 AM
Quote
Thanks for that Helen.   As I said, I doubted she had porphyria.   Goodness knows she was plagued, especially in her latter years, with major, non-porphyria associated illness.

tsaria


Now I recall, I have read somewhere (don't ask me where) that Pcss Margaret was asked outright whether she did indeed suffer from porphyria and that she replied in the negative; she did however add that she knew that William of Gloucester suffered from it.
And Tsaria you are right, illness of every kind was always close in her later years.  A great shame as she had been a woman of style (and temperament it must be added); her decline was very sad to see and a marked contrast to the robust health of her sister...
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: Helen_Azar on January 19, 2005, 10:20:34 PM
Does anyone know exactly how porphyria is inherited?
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: Belochka on January 19, 2005, 11:28:47 PM
Quote
Does anyone know exactly how porphyria is inherited?


Porphyria is not always inherited. Exposure to toxic substances can cause symptomatic porphyria, as will contracting Hepatitis C, excessive drug and alcohol use. However the majority of cases are due to inheritance.

Depending on the type of porphyria, it may be due to an autosomal dominant trait (where only one copy of the gene is required) or it may be due to an autosomal recessive trait (where both parents must contribute the defective enzymic gene).

Furthermore presence of the defective gene does not necessarily mean that the condition will become symptomatic.
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: Helen_Azar on January 20, 2005, 07:52:16 AM
Thanks, Belochka!  I don't know if I am interpreting this correctly, but if this is a dominant genetic trait, shouldn't we see a lot more manifestation of this disease in the Stuarts and descendants (if passed down by Mary Stuart or one of her own ancestors)? Or are they mostly asymptomatic?
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: Belochka on January 21, 2005, 01:42:47 AM
Quote
 I don't know if I am interpreting this correctly, but if this is a dominant genetic trait, shouldn't we see a lot more manifestation of this disease?  


Don't forget that the offspring have a 50% probability of inheriting the defective gene, where one parent posseses the porphyria gene.

Also depending on the type of enzyme which is affected in the metabolic pathway in the biosynthesis of the heme molecule, will predict which porphyria symptoms will manifest. These symptoms can mimic some other condition, without considering porphyria as being the cause. Without confirmatory diagnostic testing, then one cannot be certain that porphyria was or was not the problem.

Furthermore, in some cases specific triggers maybe required  for the condition to present, such as sunlight or ingestion of certain food. By this example, if those triggers have not been activated, then the person will remain asymptomatic for life.

As you can see there are many ifs ....  
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: Helen_Azar on January 22, 2005, 07:57:53 PM
Probably many of them did manifest it, but were not diagnosed. And maybe the connection among them wasn't made because the symptoms can be so varied...
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: Belochka on January 22, 2005, 09:48:05 PM
Exactly Helen!

A full medical history will remain incomplete.
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: ChristineM on January 31, 2005, 03:37:02 PM
Belochka may well be able to advise.   Could another answer to Mary's acute abdominal pains be answered with the simple explanation of mittelschmerz?  

Although the reports of Mary, Queen of Scots abdominal pains appear to be at the extreme end of the spectrum, this is a possiblity which I am not aware has been addressed.

tsaria
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: Janet_W. on January 31, 2005, 04:22:04 PM
Good possibility, Tsaria. I've had that one myself.  :(
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: Belochka on January 31, 2005, 10:52:23 PM
Quote
Belochka may well be able to advise.   Could another answer to Mary's acute abdominal pains be answered with the simple explanation of mittelschmerz?  
tsaria


Hi Tsaria,

Could you please advise me of all other symptoms which Mary was said to have experienced. I know nothing about this lady. How old was she during these episodes? What was the frequency of her distress?

Abdominal pain is too broad a description to make any probable clinical diagnosis.

One cannot exclude perimenstrual distress (lower abdominal pain before or during menses) or perhaps endometriosis?? There are many options to select from.
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: palatine on September 08, 2005, 07:49:44 PM
In "The Sickly Stuarts: The Medical Downfall of a Dynasty" by Dr. Frederick Holmes, the medical case histories of the six Stuart sovereigns are examined in detail.  Holmes rejects the idea that King James had porphyria, since he believes that the main symptom that manifested in James was discolored urine, "red as Alicante wine."  Holmes does not believe that the environmental factors that usually cause porphyria or trigger it in those with a propensity for it were present in James's environment.

Holmes details the severe problems King James had with his kidneys.  One of them was tiny and probably dysfunctional, a congenital birth defect.  The other was riddled with kidney stones, which Holmes believes caused blood to mix with his urine, leading to the discoloration.  

Holmes does not devote more than a brief mention to James's daughter Elizabeth, who does not seem to have suffered from kidney disease or kidney stones.  However, biographies of Elizabeth and her family reveal that two of Elizabeth's sons, Rupert and Gustav, suffered from kidney stones.

Elizabeth's daughter Sophia was the mother of George I.  There is no evidence that Sophia suffered from kidney problems.  However, if two of her brothers suffered from them, as well as her grandfather, it seems possible that she could have passed the problem on to her descendants.

I have only recently begun reading McAlpine's book "George III and the Mad-Business", and I have yet to acquire a copy of Rohl's book, but it is my understanding that they studied only Sophia's descendants.  Two of Sophia's brothers, Edward and Karl-Ludwig, left daughters whose descendants married into almost every Catholic royal family in Europe.   The House of Habsburg can trace their line to Karl-Ludwig through the marriage of his great-grandson, Francis of Lorraine, to Empress Maria Theresa of Austria.

If porphyria was truly a common and hereditary problem inherited from Mary Queen of Scots, then Catholic and Protestant descendants alike would be sufferers.  I hope a future study will be done that includes a random sampling of the descendants of Sophia's brothers.
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: bell_the_cat on September 09, 2005, 01:19:59 AM
Yes, I agree totally.

Many of George III's royal contemporaries were descended from James (as were many of the english aristocracy). Marie Antoinette and Louis XVI were both descendants, as was the Queen of Spain, Kings of Denmark and Prussia etc. I've never understood how the porphyria gene had the forsight to follow exactly the british line of succession, when this was entirely fortuitous.

It seems to me (non-doctor) that porphyria is a condition which may be commoner in its milder forms than people may think. Perhaps the symptoms as you say overlap with other kidney (alcohol induced?) problems.

The extreme case of George III's madness can for me not be explained by porphyria alone. Psychological aspects must also have contributed, and in his final years perhaps Alzheimers as well.
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: Kimberly on September 09, 2005, 02:32:34 AM
Excuse my "gormlessness" but re Palatine's post; how do we know James had a tiny probably dysfunctional kidney. Did they do  post mortem on him  ???
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: palatine on September 26, 2005, 03:52:32 PM
King James had an autopsy which revealed his kidney problems.

Elizabeth did not have an autopsy.  She had thirteen children, but only two had autopsies, Gustav and Rupert.  Neither was diagnosed with kidney stones or kidney problems in their lifetimes.
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: Prince_Lieven on September 26, 2005, 03:54:31 PM
I just bought a book called 'The Sickly Stuarts' about the Medical history of the Stuarts. Since I am already reading two other books, I won't be looking at it for a while, but when I do, I'll post any interesting info!
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: palatine on November 15, 2005, 05:57:54 PM
Does anyone know if any of the descendants of the illegitimate children of Charles II and James II suffered from porphyria?  None of James's legitimate descendants seem to have suffered from the disease, based on what I've read in their biographies.
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: Tania+ on November 15, 2005, 11:03:08 PM
Was, or is there any way of confirmation that your statement, "Psychological aspects must also have contributed, and in his final years perhaps Alzheimers as well" has been confirmed ?

Thanks for your input.

Tatiana


Quote
Yes, I agree totally.

Many of George III's royal contemporaries were descended from James (as were many of the english aristocracy). Marie Antoinette and Louis XVI were both descendants, as was the Queen of Spain, Kings of Denmark and Prussia etc. I've never understood how the porphyria gene had the forsight to follow exactly the british line of succession, when this was entirely fortuitous.

It seems to me (non-doctor) that porphyria is a condition which may be commoner in its milder forms than people may think. Perhaps the symptoms as you say overlap with other kidney (alcohol induced?) problems.

The extreme case of George III's madness can for me not be explained by porphyria alone. Psychological aspects must also have contributed, and in his final years perhaps Alzheimers as well.

Title: Re: Did Mary Stuart & descendants have porphyr
Post by: bell_the_cat on November 16, 2005, 02:42:43 AM
Quote
Was, or is there any way of confirmation that your statement, "Psychological aspects must also have contributed, and in his final years perhaps Alzheimers as well" has been confirmed ?

Thanks for your input.

Tatiana




Hi Tania

I don't think even now there is a test for Alzheimers. Here's a definition from an Alzheimers site:

"Alzheimer's is a progressive, degenerative disorder that affects the brain. It damages the brain cells responsible for intellectual functioning in the brain, including memory, intelligence, judgment, and speech. Alzheimers leads to the loss of mental and physical functions.

Alzheimer's is the most common cause of dementia in older people. It affects the parts of the brain that control thought, memory, and language. A small percentage Alzheimer's patients are under 50 years of age. However, most are over 65 years of age. A rare and aggressive form of Alzheimer's can happen in some people in their 40s and 50s.

Over the course of years, as the disease progresses, individuals loose their ability to perform the basic tasks that are part of everyday life and usually end up requiring constant care and supervision. "


I don't think there's a test for "psychological causes" either, but everyone has these!

Title: Re: Did Mary Stuart & descendants have porphyr
Post by: bell_the_cat on November 16, 2005, 02:45:08 AM
Quote
Does anyone know if any of the descendants of the illegitimate children of Charles II and James II suffered from porphyria?  None of James's legitimate descendants seem to have suffered from the disease, based on what I've read in their biographies.


This would include a large swathe of the English upper classes including Diana, POW and Camilla Parker-Bowles, whoops the Duchess of Cornwall.
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: elena_maria_vidal on November 16, 2005, 06:05:39 PM
I recently heard or read somewhere that recent examination of George III's remains reveal that he died from arsenic poisoning. Probably not a deliberate poisoning, but he may have been taking doses of arsenic over time, which people sometimes did for medicinal reasons. Has anyone heard anything about this?
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: palatine on November 18, 2005, 11:32:54 AM
Somehow I doubt that Camilla and other current Stuart descendants will be lining up anytime soon to be tested for porphyria.   :)  However, I wonder if the lives of any of the eighteenth and nineteenth century descendants have been studied for symptoms of porphyria.  For example, one of Charles's descendants, the author and statesman Charles James Fox, led a very well documented life.

Elena, I saw an article in the newspaper about the possibility that George III took arsenic for various ailments, and was poisoned by it.  From what I've read about poor George's final years in biographies, he doesn't seem to have suffered from arsenic poisoning.  
Title: Re: Did Mary Stuart & descendants have porphyr
Post by: palatine on December 20, 2005, 08:48:56 AM
According to Edward Corp, the heart of James II was tested for porphyria in recent years; the test results showed no sign of the disease.  Corp said that there are some questions about the provenance of the heart, and that more testing might be done on other organs of James II which were buried separately from his corpse.

There is no evidence that James II or his descendants in the legitimate line suffered from porphyria.  
Title: Re: Did Mary Stuart & descendants have porphyria?
Post by: DonnaSue on June 22, 2010, 01:25:18 PM
This is a very interesting site. I plan on spending time doing a lot of reading here as participants seem to have a lot of interesting information that one could learn from. :)

I'm new here and stumbled upon this site when searching for info on porphyria. I am maternally descended from old European aristocracy/royalty and when reading about an ancestor I stumbled upon the mention of porphyria. Looking into it further I discovered that it just might be the explanation for some of the mysterious problems that seem to run in our family that doctors can't quite put a finger on. Myself, my youngest daughter and one of my nieces have an 'allergy' to the sun where we develop an itchy rash and sometimes little blisters usually in the beginning of the sunny season. After we get a bit of a tan the symptoms seem to fade. A good portion of my family are photosensitive and wear dark glasses year round out of doors, even on 'bright' cloudy days. My little one becomes extremely light sensitive when she has a cold/is sick and will literally cry and run to hide in a dark room as just normal lighting is blinding and painful to her eyes. Many of us have a history of unexplained stomach pains, and all that goes with that topic. My sister and my niece have been told they have fibromyalgia, yet drugs of any type rarely do much to alleviate their discomfort. We all get the unexplained tingling and numbness in our extremities, tho no one has ever become paralyzed by these symptoms. My sister and I both get the racing heart symptoms from time to time, yet the doctors say we have no heart problems that they can find.
I'm encouraging my sister and niece to be tested as they seem to suffer from the symptoms the most and to a higher degree and are more likely better test subjects than others of us within the family.
If anyone has ever come across any further information regarding this disease please post it, any info would be appreciated.
Title: Re: Did Mary Stuart & descendants have porphyria?
Post by: DonnaSue on June 29, 2011, 11:00:32 PM
Attention DNAGenie:

Hi B......,

I would be happy to chat with you about this subject. Please message me with an email addy to use as I've not had good luck with using the internal messaging system on this board.
I tried to reply to your message and wasn't able to get it to go through. I look forward to hearing from you.

Regards,
Donna-Sue
Title: Re: Did Mary Stuart & descendants have porphyria?
Post by: DNAgenie on August 11, 2011, 09:30:08 PM
Earlier posters asked about porphyria symptoms so I thought it might be useful to outline the symptoms of Acute Intermittent Porpyhria, as described in Purple Secret.  AIP is the most common form of the disease and one of the main candidates for the malady in the Royal Stuarts.

From Purple Secret (1998) by John C.G. Rohl, Martin Warren and David Hunt. p 244-245:

Acute Intermittent Porphyria (AIP) is the most common of the inherited porphyrias and is caused by a deficiency in the enzyme porphobilinogen deaminase (PBGD). A deficiency in this enzyme leads to the accumulation of the early pathway intermediates porphilobinogen (PBG) and ALA, which are excreted in the urine of patients during an attack. The excretion of PBG can give rise to the presence of coloured urine, usually red or brown.  More often, the colour of urine develops with time after it is left to stand.  AIP is normally triggered by factors such as diet, hormones and drugs. The disorder is generally expressed after puberty and with a higher incidence in women than in men, perhaps reflecting the greater fluctuation in hormone levels.

There have been a number of clinical studies on the incidence of the symptoms of AIP.  In all cases, around 90 per cent of patients suffer from abdominal pain, with a majority also suffering from vomiting and constipation.  Patients were also found to suffer from limb, head, neck or chest pains, muscle weakness, hypertension and tachycardia and to display mental symptoms. In addition, some patients reported convulsions, sensory loss, breathing difficulties and fever.  The abdominal pains are often severe enough to warrant surgical exploration.  If this is accompanied by a barbiturate-based anaesthetic, it often makes the AIP more acute and can lead to death. In severe cases, the urine of the patient has a port-wine colour due to the concentration of excreted PBG and its chemical derivatives.

Patients can become hypersensitive, anxious, restless, insomniac, paranoic or depressed and, in some cases, have been labelled as hysterical. The high incidence of AIP patients in psychiatric institutions shows how easy it is to misdiagnose the disorder.  All of the major symptoms of AIP are thought to be caused by the effect of the early pathway intermediates on the nervous system, causing it to function incorrectly.  However the exact cause and site of the dysfunctions are still unknown.  AIP is thought to occur in about one in ten thousand of the population, although the actual frequency may be even higher than this.

One of the problems in assessing the level of occurrence of AIP is that about 90 per cent of people who carry the defective gene for AIP never display any symptoms.  The reasons why so many carriers remain asymptomatic is unclear.  One point which is certain is that AIP can be induced in carriers by a number of factors, including certain drugs, alcohol and hormones.  The main effect of these factors is to increase the level of activity of the enzyme which makes ALA, the starting point of haem biosynthesis.  The increased concentration of ALA leads to an increase of flow of intermediates through the haem pathway, an increase which most healthy individuals can cope with.  However, AIP patients have a reduced level of PBGD and thus the pathway in these individuals cannot cope with the increase in rate and a bottleneck forms at this point.  An increase in ALA and PBG occurs and these elevated levels consequently lead to the neurophysiological problems associated with an AIP attack. Progesterone and oestrogen, endocrine hormones associated with women’s menstrual cycles, are also known to influence AIP attacks.  On the whole, AIP is rarely manifested before puberty and there is a drop in the level of AIP attacks in post-menopausal women.  Overall, AIP is more common in women than men (at a ratio of three women to two men suffer with AIP) and women are more susceptible to AIP attacks at the start of their period.  A number of women AIP sufferers have reported a periodicity of attacks which reflects their menstrual cycle.  Certain contraceptive pills also cause attacks in women carriers of the disorder.

Poor diet is also a major influence on AIP attacks. In general it is thought that a low caloric diet can increase the likelihood of an attack, and, consequently, AIP sufferers are more likely to precipitate an attack if they go on a crash diet.

Title: Re: Did Mary Stuart & descendants have porphyria?
Post by: DNAgenie on August 11, 2011, 09:44:12 PM
Another form of porphyria, and the type favoured by the authors of Purple Secret as most likely to be the cause of disease in the Stuarts and the Hohenzollerns, is Variegate Porphyria. From Purple Secret, pp 245-247:

Variegate porphyria arises from a dysfunction in the enzyme protoporphyrinogen oxidase (PPOX), the penultimate enzyme of the haem biosynthesis pathway. As the name implies, variegate porphyria is a mixed porphyria in which sufferers display symptoms of acute (neurovisceral) porphyria and/or photosensitivity.  The photosensitivity is due to the accumulation of protoporphyrin.

Variegate porphyria occurs with a much higher incidence in South Africa than the rest of the world. As explained in Chapter 1, this was a result of the marriage between two Dutch settlers at the Cape of Good Hope in 1688. The relative isolation of the community where they settled allowed for a rapid propagation of the mutant gene for variegate porphyria. Biochemical studies have shown that carriers of the mutant variegate porphyria gene have a 50 per cent reduction in PPOX. More recently, with the isolation of the gene, it has been possible to determine the actual mutation which caused the South African porphyric malady.  PPOX contains 477 amino acids and the mutation within the gene changes just one of those amino acids (the amino acid at position 59 is changed from an arginine to a tryptophan). Through this seemingly innocuous change of just one amino acid, the enzyme is rendered completely inactive. However, as predicted nearly thirty years ago, variegate porphyria sufferers in Europe do not have the same mutation, thus explaining why sufferers in Europe do not exhibit exactly the same symptoms as those in South Africa.  Overall variegate porphyria should be considered a world-wide problem occurring with only a slightly lower incidence than AIP.

In terms of symptoms, variegate porphyria is very similar to AIP except that photosensitivity is much more common.  Thus patients describe a very similar range of neurovisceral symptoms to those observed in acute porphyria, including acute abdominal pain, peripheral muscular weakness and psychiatric symptoms.  The photosensitivity results in the appearance of vesicles and bullae, increased skin pigmentation, hair growth and skin fragility.  The skin fragility means that if the skin is pushed under pressure it appears to slide.  As one might expect, photosensitivity is more marked in countries where there is a good deal of sunshine. 

The major biochemical finding associated with variegate porphyria is the excretion of large amounts of protoporphyrin in the faeces.  Faeces of variegate porphyria sufferers appear fluorescent when viewed under ultraviolet light, and this was a basic diagnostic test for variegate porphyria in the early days.  The same factors which influence AIP attacks also influence variegate porphyria.  Thus barbiturates, contraceptive steroids and dietary changes all have an effect on either starting or exacerbating variegate porphyria attacks.

Title: Re: Did Mary Stuart & descendants have porphyria?
Post by: Mariel on November 19, 2011, 05:14:04 PM
I am a newbie here, so there is a lot I do not know, but on the subject of porphyira, I know some things, as I have it.  I
believe mine may have come down the centuries from the middle ages, when my family of that time which settled in Scotland
were close followers of the Stuarts.  By followers I mean literally followers who came with the Stuarts from France to England
and finally to Scotland, where they settled in the region now called Pollock Park in Glasgow (along with Walter FitzAllen, the
first "Stuart" to live full time in Scotland.

The question has arisen here as to whether anyone prior to James V of Scotland had porphyria, on this line.  Yes, probably
the Tudors had it, the forebears of Mary Queen of Scots and Lord Darnley.  Sometimes people "pass on" Porphyria with
minimal symptoms, although the disease is not "recessive."  (it is "dominant", so that an average of 50% of children get it).
I believe the outstanding candidate for Porphyria on the Tudor line was Charles VI of France, who was considerably madder
than George III, and was parent of Katherine of Valois, who married Owen Tudor as her second husband.  Porphyria madness,
as has been stated here, usually is not constant.  It happens when the metabolic pathways which are damaged are triggered,
by foods, chemicals, medicines, infections, and stress.  So most "porphs" are not crazy all of the time, and some of us are
never crazy at all, although almost all of us have depressions and difficulty focusing when in "attack". 

I believe the family which became the Stuarts (elected by the elites of Scotland from the landowning class) had porphyria
much earlier than is usually discussed, but of course that is speculation.  They were influenced by other porphyria lines
entering their genetic structure, most notably the Hungarians who came to Scotland with Queen Margaret, even before the
Stuarts settled in Scotland.  There are MANY porphyria lines and Scotland was a melting pot of peoples, both in the landowning
classes and later the nobility,and in the common people. So porphyria lines probably came from many places, and then were
exacerbated by inbreeding, especially among the landowners and nobility.  Some of the related families would never let a good
cousin marriage go to waste, to preserve fortunes and lands. 

Porphyria is a neuro-visceral disease and metabolic disease which causes poisoning of nerves.