The 2010 Involve conference

NIHR (the National Institute for Health Research) funds INVOLVE which promotes active public participation in NHS, public health and social care research to improve the way that research is prioritised, commissioned, undertaken, communicated and used.  The BUS/Moorfields partnership was invited to attend the 2010 INVOLVE Conference in Nottingham to display a poster and talk about the Birdshot Day. Here is a picture of the poster! And a photograph of Narciss Okhravi, Rea and Nik Koutramanos in front of it.

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The conference was attended by many small charities, similar to ours, and some health staff. What was particularly striking was that the BUS partnership with Moorfields attracted real interest as it seems to be pretty unique.  We have a partnership that has already led to some effective outcomes (the Birdshot Day where people with Birdshot and professionals exchanged information and learnt from each other) but we also have the foundations for some real research to get underway.

People were impressed by the power of a small charity like ours, particularly as it deals with a rare disease, where patients often struggle to gain effective access to diagnosis and treatment, because the disease is not well understood.

BUS has a growing database of people with Birdshot, and without this database, good research would be much harder to carry out as researchers would not be able to access enough people!   Well, Annie and I (Rea) already knew how powerful BUS has been in raising the profile and lobbying for resources and treatment, but we are really happy to have that confirmed by INVOLVE. So, for all of you who have become members of BUS, please note how effective your membership has been and how powerful we, as a group of Birdshot sufferers, are becoming.

It was really helpful attending the conference, and we made some great connections. INVOLVE has asked us to write an article for them, as they were so impressed by the partnership. Narciss and Rea are meeting the Chief Executive of AMRC, Simon Denegri to see if he can help us begin to raise money for further Birdshot Days and further research. AMRC is the Association of Medical Research Charities, and we are hoping to gain some real help and information from this meeting.

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Update on Birdshot Day

Narciss, Rea and I have been busy reviewing all the video footage that was taken at the Birdshot day with Alan Lacey , our wonderful audio visual specialist. Alan has managed to capture most of the lectures and talks and we also have some great interviews of people talking about their experience with Birdshot. We would like to thank all these people for giving so freely of their experiences to make these ‘vignettes’ such an amazing learning opportunity for our health professionals. We would also like to thank our team of volunteer interviewers who did such a brilliant job – Mikael Porath-Petersen, Lizzie May and Kevin Wooding – they were truly professional and we cannot believe that they have never done this before! Continue reading

Vitamin D controls gene action?

At the Birdshot Day in September there was, not unsurprisingly, some discussion about what it is that triggers Birdshot.  The answer the experts gave was that they did not know but that it was thought to possibly be some environmental factor.  What was stated clearly,  is that there needs to be research into this.  The article below by  Steve Connor, Science Editor of the Independent on Sunday makes interesting reading for people who suffer from Birdshot Chorioretinopathy. It was published in August 2010. Vitamin D is produced naturally by the skin but only in the presence of sunlight.  Perhaps it may offer a possible clue which could be followed up?  Vitamin D is after all a cheap commodity.

What does Viatmin D do?

Vitamin D protects the body against a range of serious illnesses by binding to the DNA of the body’s cells and directly controlling the genes implicated in diseases such as multiple sclerosis, diabetes and cancer, a study suggests.

It is the first time that scientists have found direct evidence to suggest that the “sunshine vitamin”, which is made by the skin in the presence of sunlight, directly controls a network of genes linked with a wide variety of serious disorders.

Although previous studies have linked vitamin D deficiency with a growing list of illnesses, especially the autoimmune diseases such as multiple sclerosis, rheumatoid arthritis and type-1 diabetes, until now scientists have not been able to show how it could trigger so many different disorders.

The latest study suggests a possible mechanism by showing that vitamin D binds directly to parts of the human genome that house the genes known to be linked with these serious autoimmune disorders, which result from a person’s immune system attacking the body’s own tissues.

“A surprisingly large number of genes that have been highlighted by gene-associated studies in autoimmunity and cancer seem to be regulated by vitamin D,” said Professor George Ebers, a clinical neurologist at the Radcliffe hospital in Oxford.

“This is indirect, but intriguing evidence that vitamin D will prove to be a major player in the key gene-environment interactions that expose us to diseases,” Professor Ebers said.

It is estimated that a billion people in the world could be suffering from deficiencies in vitamin D, which can be ingested in the diet in small amounts but is primarily produced by the skin when exposed to direct sunlight, so the findings could have major health implications for people living in northern latitudes with low levels of sunlight.

The researchers, funded by the Wellcome Trust, analysed human cells that had been stimulated by the active form of vitamin D. They found that the vitamin D receptor protein bonded to a total of 2,776 sites along the DNA of the genome. They also found that the vitamin had a significant effect on altering the activity of 229 genes located near to these sites.

“We screened the whole genome and found all the sites where vitamin D binds. The evidence is now quite solid that not only is there binding but we’ve been able to show that it actually affects the functioning of the gene. It’s not just sticking to that region, it’s actually altering gene expression,” Professor Ebers said.

“We show there’s an excess of genes that are associated with a bunch of autoimmune conditions that seem to have the vitamin D regulation feature. I don’t think we can say [this is] cause and effect, but it’s not a coincidence. It is clearly not there by chance. There’s a very substantial bias among these genes that have been highlighted as playing a role in these autoimmune conditions, and that have turned out to be regulated by vitamin D,” he explained.

If the study, published in the journal Genome Research, is supported by further research it could explain why vitamin D plays such an important role in a wide spectrum of diseases and why people who are native to northern latitudes have over many generations evolved a white skin, which absorbs sunlight more efficiently than darker skin.

“Vitamin D status is potentially one of the most powerful selective pressures on the genome in relatively recent times. Our study appears to support this interpretation and it may be we have not had enough time to make all the adaptations we have needed to cope with our northern circumstances,” Professor Ebers said.

Sreeram Ramagopalan, of the Wellcome Trust Centre for Human Genetics at Oxford University, said the findings suggest vitamin D supplements may be important. “Vitamin D supplements during pregnancy and the early years could have a beneficial effect on a child’s health in later life,” he said.

Three ways to get your fix

*Vitamin D is produced naturally by the skin but only in the presence of sunlight. Sunshine contains ultraviolet light B (UVB) which converts a ubiquitious precursor substance in the skin, called 7-dehydrocholesterol, into vitamin D3. This can then be converted by the liver and kidneys into the biologically active form of vitamin D.

The vitamin is also present in relatively high amounts in fish and shellfish, and in lower amounts in eggs and dairy produce. By far the easiest and best way of delivering enough vitamin D to the body is to expose unprotected skin to direct sunlight for a few minutes each day. But light-skinned people are advised not to burn their skin.

An insight from patients and families

Over the summer Rare Diseases UK sent out a survey on patients’ and families’ experiences of rare diseases. They received a fantastic 600 responses and are in the process of completing a publication to outline the results of the survey. The publication: “Experiences of Rare Diseases: An insight from patients and families” is due to be launched in November.

To accompany the launch Rare Diseases UK are hoping to get media coverage to raise awareness of rare diseases and some of the issues patients and families face in areas such as:

– accessing a correct and timely diagnosis

– the availability of information about the condition

– accessing the range of support needed

– accessing treatment

– coordination of care

– the availability of information and the ability to participate in research

If you are interested in raising awareness of the need for a strategy for rare diseases and are willing for your story to appear or to be interviewed by the media, please could you download and complete the form linked here and return it to Rare Disease UK. This is really helpful as it means Rare Disease UK can move quickly if there is any interest from the media.

Rea and I participated in a similar initiative last year and Rea’s birdshot experience was published in a women’s magazine. We would encourage you to submit your story if you are able to and you never know you may be able to help us raise awareness about Birdshot Chorioretinopathy and contribute towards getting a quicker diagnosis and better treatment in the future for others.

Immunsuppressants and bad cold – advice please!

Real Ale has quite a nasty cold at the moment and wants to know if he will recover more quickly if he stops taking his immunosuppresant for a few days. This question could also apply to people who have caught the flu and/or have other infections. He suspects it won’t make any difference because of the amount of time it takes to suppress the immune system in the first place. None the less he is tempted by the idea of a faster recovery. Does anybody have any thoughts on the idea  and has anybody actually tried doing this?

Hospitals failure to communicate with GP

Has anyone had the same problems as Real Ale?

Recently his consultant changed his immunosuppressant from Azathioprine to Cellcept (mycophenolate moefetil). He collected his prescription from the hospital pharmacy. This was fine until he nearly ran out and asked his GP for a renewal.

His GP refused to prescribe it (Cellcept) as he hadn’t received a letter from his consultant. His GP, through his surgery, asked him to ask the consultant for a letter explaining why he was now on Cellcept and the dosage. The consultant duly responded and confirmed that he was on 500mg of Cellcept twice a day. Except Real Ale wasn’t. He had been upped to 750mg twice a day… and so his doctor refused to renew the prescription until he had a letter confirming this… Real Ale suggested to his surgery that he could explain to the doctor why he was on this medication and how he should be monitored and what tests were needed. This offer was declined and Real Ale had to write once again to his consultant asking for all this to be made explicit.

In fact it was nearly four weeks before Real Ale was able to get his prescription for Cellcept sorted out. It seems he was a victim of the ‘Shared Care’ protocols which specify (or should) the respective roles of one’s own GP and the consultant in the management of a patient’s condition.

It seems to me that this might be a common problem. I had a battle with my own GP in the beginning, until my consultant very kindly rang him up and explained – the GP had said it was down to the consultant to get in touch with him when I suggested he phone the consultant up, not the other way around! This required phone calls and faxes from me to my consultant’s secretary before the necessary conversation took place.

Our  message to patients is be persistent, you are the only one who can sort the problem out even if you have to act as go between… And if your consultant has promised to write to your GP check that your GP has actually received it!

Adaptive optics

Sue who attended the Birdshot Day has volunteered to help us with  BUS.  We’ve had a number of offers of help and  really appreciate this and are sure that it is going to help us grow and become more prominent in the future.

Last week she drew our attention to an article about “Adaptive Optics”. This was something that was new to us and looks as if it could be of  interest to people with birdshot.

The article describes a development which is being researched to help look deep into the eyes.  The idea is that it will help with the earlier diagnosis of conditions like  diabetic retinopathy, macular degeneration and glaucoma.  Like Birdshot, the earlier these are diagnosed,  the more successfully they can be treated. Continue reading

Membership of Eurodis

We are pleased to tell you that we have recently  been accepted as a member of EURODIS.

EURORDIS is a non-governmental patient-driven alliance of patient organisations and individuals active in the field of rare diseases, dedicated to improving the quality of life of all people living with rare diseases in Europe.  The link above takes you to the EURODIS website.

Birdshot Day pictures

Here are some thumbnails from the Birdshot Day.  Click on any of them if you want to see an enlargement of the whole image.  We hope it will give you an idea of what the day was like.   These are just a few of the 130 people who came.  There are more pictures  to come. Annie

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