US Film Explores struggle of rare diseases

Posted on October 8, 2012 by Reanna7

Two US filmmakers have produced a documentary on Hermansky-Pudlak syndrome (HPS), a rare disease. This film highlights the issues faced by all of us with rare diseases.

Like Birdshot, very few doctors have heard of HPS, and no-one knows how many people have it. Getting diagnosed is difficult, and finding some-one else with the syndrome is difficult, so it is a lonely path people tread. They also point out that there are no disease specific medications (just like for Birdshot). We Birdshotters at least have an organisation (BUS) that lets us connect with other Birdshotters!

The film points out that whilst each rare disease is uncommon, if you take all rare diseases together, they are very common. It also explores the way that patients, once diagnosed, connect with others. They highlight a similar development to BUS for each of the rare diseases, and how the internet has helped in this.

The most interesting part of this film follows a parent of a patient with HPS as she tries to find other patients to participate in a clinical trial to test a new drug.

It is a really moving film. To see the full article go to:

http://www.sfgate.com/health/article/Film-explores-struggles-with-rare-diseases-3924112.php

Dexamethasone Intravitreal Implant

Posted on October 8, 2012 by Reanna7

The Department of Ophthalmology at University Vita-Salute in Milan, Italy has published a paper on their experience of treating difficult, uncontrolled and severe cases of noninfectious posterior uveitis (Birdshot is a noninfectious posterior uveitis) with dexamethasone intravitreal implants on top of systemic steroids. They found that, of the 12 patients they studied, all had decreased uveitis activity, increased visual acuity and reduction in the macular thickness after 9 months. Three patients were able to reduce their steroids. Only 3 of the eyes had an increase in intraocular pressure. Their conclusion is that dexamethasone may be a promising additional treatment for patients with sever posterior noninfectious uveitis which does not respond to immunosuppressants.

See the full text at

http://www.ncbi.nlm.nih.gov/pubmed/23038070?dopt=Citation

Quality of Life follow-up questionnaire

Posted on October 7, 2012 by Annie

Last week we sent out a very short follow-up quality of life questionnaire to participants of our 1st questionnaire who kindly gave us their email address to allow us to follow-up.

We’d really like to see how things may have changed for you since undertaking the 1st survey. We do hope that you will all complete this as soon as possible as it will provide helpful data to supplement the original data .

If you have not received the email with the link to the survey and you think you should have, please get in touch with me at annie@birdshot.org.uk so that I can resend the link to you.

Many thanks to all who have already completed it. We do appreciate your continued help with this useful research.

Annie

Carrots Night Walk Success

Posted on September 23, 2012 by Annie

A group of Birdshotters and their friends took part in Friday night’s Carrots Night walk raising money towards future Birdshot research. The walk was organised by the charity Fight for Sight.

BUS are pleased to announce that we will have raised at least £7,000, and probably more, thanks to all the generous support we have received from friends, family and supporters. This is fantastic news for Birdshotters. It means that we have made a good start towards helping to get some funding for future research into Birdshot in partnership with the much larger charity Fight for Sight. Thanks so much to all our supporters and of course to all our walkers!!

It’s not too late to donate! http://www.justgiving.com/teams/Birdshot-Biobank

Lorraine leading the way for the Birdshot team of walkers

More photos of the some of the team and some of the sights from the walk are displayed in the Photo albums on the Birdshot facebook page.

Below a picture of Professor Peng Khaw, Director of Research and Development, Moorfields Eye Hospital and Director of the NIHR Specialist NIHR Moorfields Biomedical Research Centre, with Birdshot Uveitis Society founder members Rea, Adrian and Annie before the walk began.

Left to right – Adrian, Annie, Rea and Professor Peng Khaw

Adrian checking on the map that we are on the right route! left to right, Mikael, Adrian, Lorraine and Monica

Some of the Birdshot walkers left to right: Rea, Adrian Lorraine, Monica, Sue, Sue, Avril, Chrissy, Lesley, Annie and Claudia

Access To Medicines

Posted on September 21, 2012 by Reanna7

BUS was recently invited to participate in a debate on ‘How Can We Improve Earlier Access to Medicines for Patients in the UK?’ The debate was set up by Les Halpin, a very inspirational man who founded EMPOWER: Access To Medicine following his diagnosis of Motor Neurone Disease and realising that there were few medications licensed for this disease and that if research was undertaken on new medications, it would take many months or even years before the medicine was available for use.

This debate was held at the King’s Fund in London and brought together a range of leading and influential individuals including:

▪ Lois Rogers, leading health journalist and contributor to publications including The Sunday Times, The Economist and New Statesman and consultant to the Department of Health and other government agencies

▪ Dr Richard Barker, Director of the Centre for Accelerating Medical Innovations, Oxford University and former head of the ABPI

▪ Yogi Amin, human rights and medical ethics lawyer, Irwin Mitchell

▪ Alastair Kent, Director of Genetic Alliance UK

▪ Professor Sir Peter Lachmann, Emeritus Sheila Joan Smith Professor of Immunology in the University of Cambridge and a fellow of Christ’s College

BUS has received a thank you letter for its input into the debate, which is copied below and gives information on how you can become involved in this campaign and how you can access the film of Les Halpin talking about the campaign:

Empower: Access to Medicine

I would like to personally thank you for attending the Empower: Access to Medicine debate at the King’s Fund last week. We appreciate your interest in and support for such an important subject.

I am very heartened by the response to this campaign. Whilst there are many separate discussions that are taking place on this issue, my main interest is in the voice of the patient which I believe has been least heard to date.

I am therefore delighted that patient advocacy groups from around the country have responded so positively. My key aim moving forward will be to support a unified patient voice so we can together deliver much needed change.

A longer and more comprehensive version of the film that was shown at the debate is now available online at www.accesstomedicine.co.uk and I would urge you to share this with colleagues and networks that may also be interested.

You can also join the conversation online through Twitter – find us on @empoweratm

The Empower team is now defining its campaign objectives as we continue to reach out to interested individuals and groups and we will keep you informed of our next steps.

In the meantime, if you have any questions or suggestions about the campaign, please contact Karen, James or Sarah at JBP on 0203 267 0074.

Yours sincerely,

Les Halpin

Founder, Empower: Access to Medicine

Updated Interaction Advice for Simvastatin

Posted on September 21, 2012 by Reanna7

The Medicines and Healthcare products Regulatory Agency (MHRA) has written to healthcare professionals with updated advice about drug interactions between medications containing simvastatin (Zocor, Inegy) and other drugs that may be prescribed at the same time.

Simvastatin is a drug taken to reduce cholesterol and is something that Birdshotters may be taking to counteract a side effect of their medication for Birdshot.

It states that:- “Simvastatin can cause muscle weakness (myopathy) or muscle breakdown leading to kidney damage (rhabdomyolysis) and it was already known that at high doses and if certain other medicines are taken at the same time this risk is increased.”

Of particular note are two drugs which a few our of our members also take are in the list of medicines not be taken at the same time as simvastatin.

They are the immunosuppressant known as Cyclosporine/ciclosporin (Neoral, Sandimmune)

and Amlodine which is common blood pressure medication. In this instance it recommends that simvastatin should not be used at a dose of more than 20mg daily

As with cyclosporine it is also important to note that grapefruit juice should be avoided by anyone taking simvastatin.

What does this mean to Birdshotters?

If any of our members are worried about this you should talk to your doctor or health care professional about it, rather than just stop taking the medication, because the benefits of treatment with simvastatin continue to outweigh the risks for most people who are on them.

To read the whole alert follow the link below.

http://uk.mediguard.org/alerts/alert/2164.html

Orphan drug status for GEVOKIZUMAB

Posted on September 21, 2012 by Reanna7

Gevokizumab is a monoclonal antibody that shuts down inflammation brought on by a protein in our bodies called interleukin-1 beta.

The pharma that produces Gevokizumab has been focusing on diabetes but now, with the orphan drug status , it means that it will get financial help to trial the drug on non-infectious and pan uveitis.

We don’t know, at this stage, whether is will work on Birdshot, but it is exciting to see new drugs coming on to the market. It is even more exciting to see pharmas getting orphan drug status for new medications.

Read the full article at:

http://www.bizjournals.com/sanfrancisco/blog/biotech/2012/08/xoma-gevokizumab-uveitis-orphan-drug.html

OCT on Retinas of Birdshotters

Posted on September 21, 2012 by Reanna7

Three people from Lausanne, Switzerland, including Carl Herbort who has been very supportive of BUS, have looked at the retinas of 28 Birdshot eyes and retrospectively evaluated the OCT findings of these eyes, to see what changes there are in the retina over a long period of time.

They looked at the OCT results in early Birdshot (less than 1 year), intermediate (1 to 6 years) and late (more than 6 years).

What they found was that in early Birdshot, the retinal thickness was significantly elevated (i.e. it was thicker than usual) because of the inflammation and vasculitis. The thickness begins to diminish in intermediate Birdshot and by late Birdshot, the retina is significantly thinned. They also observed that 92% of these eyes had developed an epiretinal membrane by late Birdshot. An epiretinal membrane is a thin sheet of fibrous tissue that grows over the retina. For those of us with Birdshot, an epiretinal membrane may develop because the vitreous (the jelly inside our eyes) pulls away from the retina due to the inflammation. Epiretinal membranes can cause visual problems, although most of us with an epiretinal membrane do not even notice any issues.

The interesting thing about this research is that if some-one has had a delayed diagnosis, their OCT results may help determine approximately how long they have had Birdshot for.

For more information on this piece of research, follow the link:

http://www.ncbi.nlm.nih.gov/pubmed/22909176

New Study Links Bisphosphonates to Vision Problems Risk

Posted on September 21, 2012 by Reanna7

We have posted before about oral bisphosphonates (including Fosamax) and emerging evidence that first-time use of these is associated with a greater risk of developing two inflammatory diseases: uveitis and scleritis.

We have also posted on the risks of bisphosphonates in relation to atypical femur fractures.

The article highlights both these risks and can be found at:

http://www.prweb.com/releases/2012/9/prweb9883870.htm

The important thing to remember is that you need advice about your drug regime and the interactions of each of your medications, as well as the potential benefits and risks, so you can make an informed decision. The risks highlighted in this article may be outweighed by the benefits in individual case – only you and your consultant can decide between you.

We, with Birdshot, who take high doses of steroids need to protect our bones. So, becoming informed about our condition, our medication regimes, interactions and risks and benefits is really important.

Worms Again!

Posted on September 21, 2012 by Reanna7

We have posted before about helminthic therapy – worms that can modulate the immune system and prevent it from attacking the body’s own tissues and organs.

Well, the time has come for mid stage trials on this therapy. Currently, 220 people with Crohn’s Disease in the US are being enrolled on a mid stage trial and in Europe a further mid stage trial is being started.

The drug is called Trichuris Suis Ova (TSO) and consists of thousands of microscopic parasite eggs, suspended in saline solution – the drug is swallowed just like a tablet. The parasites are killed off in our stomachs, but the hypothesis is that, before they die off, they are able to modulate our immune systems.

If these trials go well, we are not too far off from having this new drug available on the market.

Read the full story at:

http://www.reuters.com/article/2012/08/30/us-usa-health-parasites-idUSBRE87T14720120830