Wednesday, July 15, 2009

Inspirational message

My sister Syl attended an event which inspired her… this is what she said:

When I attended the screening of the DVD by Wayne Dyer called “There is a spiritual solution for every problem” he quoted the following which is partly attributed to Mother Theresa. I loved it so much I decided to search for it on the internet and thought I would share it with you...

Found written on the wall in Mother Teresa's home for children in Calcutta:

- People are often unreasonable, irrational, and self-centered.
Forgive them anyway.

- If you are kind, people may accuse you of selfish, ulterior motives.
Be kind anyway.

- If you are successful, you will win some unfaithful friends and some genuine enemies.
Succeed anyway.

- If you are honest and sincere people may deceive you.
Be honest and sincere anyway.

- What you spend years creating, others could destroy overnight.
Create anyway.

- If you find serenity and happiness, some may be jealous.
Be happy anyway.

- The good you do today, will often be forgotten.
Do good anyway.

- Give the best you have, and it will never be enough.
Give your best anyway.

- In the final analysis, it is between you and God.
It was never between you and them anyway.

………… this version is credited to Mother Teresa

Monday, June 8, 2009

Diagnosis / Testing - issues (by "Anonymous")

Hello Sylvia,

I would also like to add to your wonderful summary that mercury toxicity can also be responsible for causing an excess amount of porphyrins.

Altered Porphyrin Metabolism as a Biomarker for Mercury Exposure and Toxicity

Also on the subject of testing, yes biochemical testing is confusing and in many cases handled improperly. However, in the last few years, Mt. Sinai has been DNA testing for certain forms of porphyria. According to the laboratory, they will test for AIP, HCP, VP, (they also have a combined test for the acute forms) as well as DNA tests for CEP, PCT and EPP.
Many patients assume that they need biochemical evidence before pursuing DNA testing, but from what I have read, this is not the case. So, even though the testing may be expensive, it may be worth doing DNA testing instead of regular biochemical tests.

In my own case, I was dxed long ago with porphyria and told it was AIP. However, through my own research I have realized how misunderstood porphyrins and porphyrias really are and that even though the symptoms that alerted my doctors to a possible porphyria are classic porphyria symptoms (kool-aid urine, severe abdominal pain, skin issues etc. AND I have excess porphyrins in my urine and feces), it now appears that mercury can do the same. I have even read of a dental assistant who's mercury toxicity was fatal. Her case documented VERY similar symptoms to my own illness such as the red urine, proteinuria and abdominal pain. However, there is no mention of her having any porphyrin tests so that also makes me wonder since porphyria was not ruled out first. Because I was definitely exposed to mercury while working (also as an assistant), it is not a far putt to the idea that this is the cause of my illnesses with porphyria specific symptoms. Here is the name of the article about the assistant: "Fatal Mercury Intoxication in a Dental Surgery Assistant" by T.A. Cook and Peter O. Yates. Believe it or not the date on it is December 16, 1969!

I have also noticed that there are different groups of people, all not aware of each other apparently, who excrete porphyrins but are classified in various ways. For example:
* One group is obviously the patients who truly suffer from a form of porphyria. (yet, they too are misdiagnosed repeatedly)
* The next group appears to be those who have been poisoned by something (whether it be lead, mercury, other toxic metals, agent orage, pesticides or whatever).
* The next group are the autism patients and their parents who's blogs I sometimes read and wonder what in the world is going on because these children are also excreting porphyrins. The theory is that the cause is from mercury in vaccines, but I truly wonder why a form of porphyria is not also being ruled out just to be sure?
* The next group is similiar to the second group of those who have been exposed to something. I seperate them into their own group because of the event itself that appears to have caused it. These individuals I just recently read about who live near the area in TN where the ash spill occured not long ago. A few individuals have tested postitive for porphyrins in their urine. Now, it may be obvious that an exposure occurred, but what is the signficance of all of this? It reminds me of the event in Turkey where thousands of people developed porphyria due to ingesting wheat or something that was tainted somehow with chemicals (this is very well documented, but I flatline on remembering the name of the chemical).

I could ask a thousand questions and still probably ask some more. I guess my point is that something is being overlooked about porphyrins. Mainly that there is no consensus about what the cause of thier elevations really are.

I have been babbling for awhile now so will say thanks for posting and hop off :)

Sunday, May 31, 2009

Porphyria – my basic understanding … by Sylvia

I wanted to understand the basics of Porphyria to ensure the good health of my children, and my grandchildren, so I undertook to read as much as I could about the subject and make notes that pertained to myself and my family as I went along.  I have included my personal notes hereunder.  Please be aware that these are my own personal conclusions only.

In a nutshell

In a nutshell I have come to the following conclusions.

1.             I believe now, after doing my own personal research, that I should act more responsibly with this information by ensuring that I stress the Porphyria connection when undergoing medicals and also educate my two adult children regarding the implications to their health and the health of my grandchildren – non of us have been tested.

2.             I will spend a lot more time speaking about Porphyria with my doctors.

3.             I have been prescribed bio-identical hormones for 3 years now and I believe I should ask my doctor to re-evaluate my health and progress specifically with Porphyria in mind. 

4.             Both my children are allergic to sulpha drug antibiotics and suffer from random stomach pains, and my daughter, specifically suffers from IBS which may, or may not be symptoms.

5.             I did not gain much faith from my research regarding Porphyria testing.  It seems to be a lengthy, expensive, in many cases inconclusive business and as such I have decided to abstain from testing until such time as conclusive evidence is absolutely required. 

6.             I was very interested to note how important a balanced healthy lifestyle is in terms of avoiding mid-life onset of Porphyria.  Because of my possible genetic link to Porphyria I will avoid or be extra vigilant about the precursors such as stress, alcohol, crash dieting, low carbohydrate diets, avoiding unnecessary medications, toxic household cleaners and beauty products and being aware of and avoiding copper and brass jewellery. 

7.             From now on I will take a moment to look into the toilet to note the color of my urine and stools and remind my children to do the same J.

8.             I will find out what I need to know regarding what is needed to maintain a healthy liver.  I have never been able to tolerate alcohol and I find this fact interesting considering the fact that having a mother with Porphyria means I have a 50% chance of carrying the Porphyria gene.

9.             The Porphyria and mental health connection.  This is an interesting one, especially in view of the fact that I believe my mother may have suffered from anxiety for many years, yet, to my knowledge was never treated for it.  I find it interesting that I also have chronic anxiety which my doctor believes is due to reduced hormone levels.  I will mention this to my doctor when I next see him regarding my bio-identical hormone prescriptions.

10.            Lastly, to remain balanced about all of this.  Keep it in mind when visiting a doctor or when one of us gets ill, but otherwise to simply get on with a balanced life.

What is Porphyria?

It seems to me that Porphyria is basically a chemical imbalance that occurs in the blood. Not all porphyrias are genetic, and patients with liver disease can develop porphyria as a result of liver dysfunction.

What can cause a Porphyria attack?

An attack can be brought on by a number of things i.e.

·      The use of certain drugs especially barbiturates, sulfonamides (sulfa-drug antibiotics), anti-epileptic drugs, analgesics, sedatives, hypnotics, anesthetics, sex hormones especially estrogen and progesterone,

·      Alcohol – and I’m assuming this means the abuse of alcohol such as binge drinking or long term over-consumption

·      Stress

·      Illness

·      Dieting or sudden extreme changes in diet (especially the restriction of carbohydrates) or fasting for 10 hours or more.

·      An iron overload.

·      Hepatitis B or C.


It is not possible at this stage to say which drugs are definitely safe. We live in a society which tends to accept the idea of "a pill for every ill" but if you have a blood relative who has been diagnosed with Porphyria and have not been tested for Porphyria, you should avoid taking any drugs whether purchased in the pharmacy, over the counter, or given to you by your doctor, unless you have a serious condition which requires to be treated. Do not take drugs for trivial complaints. 

What aggravates Porphyria?

Low carbohydrate diets (skipped meals); intake of alcoholic beverages; medications, including sulfa drug antibiotics, barbiturates, estrogen, birth control pills; exposure to toxic chemicals.

Above factors, and skin symptoms made worse by exposure to sunlight. Copper or brass jewelry exacerbates the reaction.

What are the symptoms of a Porphyria?

Porphyria is very under-diagnosed as it can imitate a lot of other complaints.

The symptoms of Porphyria are nonspecific. This is why the diagnosis of Porphyria is often delayed or even missed altogether.  Symptoms may include one or more of the following:

·      Severe stomach pain or back pain.

·      Pain in limbs.

·      Chest pains.

·      Seizures, depression, or anxiety, or an increased heart rate. 

·      Constipation is frequently present, but diarrhea can also occur.

·      High blood pressure.

·      High fever.

·      Nausea.

·      Confused thoughts

·      Sensitivity to sunlight.

·      Blistered painful skin or gums that take a long time to heal.

·      Purple or discolored stools.

·      Discolored urine.

·      Discolored reddish color of teeth or nails.

·      Increased hair growth especially on forehead.

How is Porphyria diagnosed?

My understanding of Porphyria testing is that the number of tests available is very large, and the results among laboratories are not always reliable. Blood, urine, and stools can be tested.  Probably all 3 will be tested to make a final conclusion.  Urine and stool tests are considered secondary and are not considered conclusive on their own.  The best time to test for Porphyria is at the early stages of an acute attack.  At other times Porphyrins fluctuate and need to be tested for 24 hours.  If these tests are normal it does not exclude the possibility that you carry the gene. The stool test is mostly ordered to help distinguish which Porphyria is present.

Will my children have Porphyria?

Whether you are male or female, any child of a Porphyric has a 50% chance of inheriting the gene.

Women with Porphyria

Women are at least three times more likely than men to experience an acute attack, due mostly to female hormones, particularly progesterone. This hormone is found in the combined oral contraceptive (the pill), as well as in hormone replacement therapy (HRT) which is frequently prescribed for post- menopausal women. Oral contraceptive and HRT preparations containing progesterone or related compounds (progesterones) should be avoided, if at all possible, by women with acute porphyria. 

Which drugs to avoid before testing for Porphyria?

            Aminosalicylic acid           

            Birth control pills


            Chloral hydrate


            Ethyl alcohol






What do Abnormal Results Mean?

Abnormal results may be due to:

            Liver cancer


            Lead poisoning

            Porphyria (several types)

What else do I need to know?

·      Patients with Porphyria should be monitored over their life for liver cancer. 

·      Most patients are healthy throughout adulthood until their Porphyria is triggered mid-life by toxic chemicals or drugs, an acute illness or worsening chronic condition, or a major dietary change.

·      The many noted links to mental illness suggests that maintaining a healthy balanced lifestyle is important.

More facts

·      The genetic predisposition for Porphyria could be as high as 1 in 500 in the population although active Porphyria may be as low as 1 in 10,000.

·      Based on the above estimated statistics, a GP could perhaps expect to meet a patient with Porphyria every five years and suspect or test a patient once per year.

·      Porphyria has been mistaken for: Guillain Barre, growing pains, Lupus, eczema, somatisation disorders, epilepsy, MS, dermatology, depression, appendicitis,Parkinson's and many, many more.






Tuesday, April 14, 2009

Sensitivity to sunlight

My Aunt (JC) wrote to me telling me of her experience with sunlight sensitivity.

JC said that as a child of 9-10 she was the first in their family to suffer with terrible stomach aches and a severe sensitivity to sunlight. Furthermore since her change of life she is no longer sensitive to sunlight. Aunty J infomed me of the South African world leader in Porphyria: Dr Hift a well known researcher in South Africa had said that losing sun sensitivity after change of life can happen as a normal course of this disease.

My Aunt said that her mother (my maternal grandmother) only became sensitive to sunlight in her early 40's. I remember my grandmother suffering from terrible "nerve pains" which she complained of consistently most of the time I knew her.

Next generation and other questions

Of the three sisters diagnosed with Porphyria:
- the oldest sister has 6 children all may have the disease
- the middle sister (Rose) has 4 children, none of whom have yet been diagnosed
- the younger of the three diagnosed sisters also has 6 offspring. Only two of these children appear to have the disease.

Other Questions I asked mom:
I asked if symptoms were different for some of her family members and she said that the symptoms were generally the same. However the severity of the itching varied from person to person and appeared on different parts of the body. She said that there is also a general family sensitivity to sunlight and of course the major issue is the allergies to certain medications.

I asked if she could remember to being a young woman before she was diagnosed and if she was sensitive to the sun at the time. The following anecdote reinforces the fact that as a young woman mom was not sensitive to the sun even though her younger sister had a different experience. Mom said that her younger sister had from a very young age hated being in the sun saying it always made her feel sick. Rose could not remember as a child or a young girl feeling sick from the sun, however, she loved to suntan and show off lovely tanned legs. Mom explained that she was unable to compete with other girls who could afford to buy 'the breakthrough of the century" new nylon stockings and so suntanned legs were the next best thing.

I asked if she had tried any medications on her skin. She replied that she had tried everything on the market that she could afford. That she had spent large sums of money (money she could ill afford) on different creams however none of these ever helped.

I asked if she now took anything for the pain and she said that the only thing she could take is Paracetamol which has no side effects for her. However she stated that this was not strong enough for the very severe pain she sometimes experienced. At the moment she finds some relief in a generic form of Paracetamol which is slightly cheaper.

Sunday, April 12, 2009

Non existent support in SA and other issues

I asked mom (Rose) about what support there was for Porphyria sufferers at the time and of course there was not much available. However when the sisters were diagnosed they were provided with a fact sheet. Later they were provided with information about the Canadian Porphyria Foundation and once registered received their newsletters on a regular basis. It was a great comfort to learn about this organisation and the information received from them was really very valuable. There were also many myths associated Porphyria which were dispelled through case studies and other information sent out. Mom said that in the 1970s it was up to her to make contact with the association and no further assistance was provided by South African Medical personnel at that time, in fact most doctors did not know or understand what was required to support Porphyrics.

Mom lost all faith in doctors over the next 30 years. Many times she was prescribed medication by a doctor which could have caused a major life threatening reaction. Often she would be saved by a pharmacist who would double check the medication only to find it unsafe for Porphyrics. Many medications would make her feel ill and she would end up throwing it away. Having lost faith in that doctor she would never return (this also meant doctors she attended would not receive feedback from mom and probably never learnt of the danger or "near miss" situation they caused their patient!) There was a seemingly endless search for a doctor she could trust. Each negative experience caused her to have less and less respect for the medical profession as a whole.

I am pleased to report that mom has now finally found a doctor with knowledge of Porphyria and who is willing to listen.

Thursday, April 9, 2009

Our mother Rose

Our mother Rose was diagnosed with Porphyria when she was in her early forties. Mom was born in 1929 in South Africa and married when she was 17. Photographs of her as a young woman revealed a lovely blemish free skin. However, over the years Porphyria particularly affected her hands and arms changing her lovely skin leaving red and black blemishes that progressively got worse.

As I am now a grandmother I am concerned that my grandchildren may have undiagnosed Porphyria or that they may pass it onto their children. Last year I asked mom a number of questions about the disease from her perspective as a sufferer of Porphyria. I am hoping that this blog will tell her story to benefit both our family and others who may either have this disease now or be diagnosed in the future. I have no medical training all I can do is relate what mom has told me.