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.