It is 10 years since orphan drug regulation was implemented in Europe and the European Medicines Agency (EMA) is marking the anniversary with various conferences and workshops during April and May. Continue reading
Dear All,
Birdshot Chorioretinopathy Patient Day
You are cordially invited to a Birdshot Patient Day organised by The Birdshot Uveitis Society on Saturday 11th September 2010 from 10.00 to 16.45. It will be held at the UCL Roberts Buildings, Torrington Place, London WC1E 7JE. Download our leaflet and registration form here.
The Day is a unique opportunity for people with a Birdshot diagnosis and leading specialists, nursing staff and trainees, to meet, share experiences and learn from one another. We would like as many people with Birdshot to be able to come and share their experiences. We hope it will be an enjoyable and rewarding day.
You will be able to:
We also want to hear about your ideas for the day, so that they can be included. We would welcome a list of questions you want answered. If you would like to share your Birdshot story, please tell us so that we can try to include it. We look forward to hearing from you and hope to meet lots of you soon.
Annie and Rea
We thought you might like to know some statistics about the numbers of people registered on the BUS site, as we now have 62 people registered as members.
Although the breakdown might not be a 100 percent accurate, we believe we have 33 people who are based in the UK, including, Northern Ireland and Scotland, 17 people in the USA, 3 people in Canada, 2 people in Denmark, 1 person from France, Norway and Portugal and Australia.
Interestingly we have no-one in Wales, but I think 4 or 5 from Scotland and 1 from Northern Ireland! Continue reading
Professor Stephen Foster and Professor William Ayliffe – Lecture on Inflammatory Eye Diseases – 24 March at 6.00 p.m.
This is a reminder that Professor William Ayliffe (a uveitis specialist and a Gresham College Professor) is giving a talk on ‘Inflammatory Eye Diseases’ at 6.30 p.m. on Wednesday 24 March 2010 at the Museum of London, London Wall, London EC2Y 5HN. Continue reading
WHAT IS RARE DISEASE DAY?
Rare Disease Day is an annual, awareness-raising event co-ordinated by EURODIS (the European Rare Disease Association which is the voice of rare disease patients across Europe) at a national and international level.
WHEN IS RARE DISEASE DAY?
Rare Disease Day is observed on the last day of February. Therefore the 2010 Rare Disease Day is Sunday 28th February. However, many events occur well before this date, and many continue well after this date. Awareness raising events take place in each participating country.
WHO CAN TAKE PART?
Individuals, patients, patient organisations, health professionals, researchers, drug developers, public health authorities – the more, the better!
WHY IS RARE DISEASE DAY IMPORTANT?
Rare Disease Day is the perfect occasion to inform or remind people that rare diseases need to be paid special attention to, because:
Rare diseases are life-threatening or chronically debilitating diseases with a low prevalence and a high level of complexity. Patients with very rare diseases and their families are particularly isolated and vulnerable. The life expectancy of rare disease patients is often significantly reduced and many have disabilities that become a source of discrimination and reduce or destroy educational, professional or social opportunities.
The rare disease patient is the orphan of health systems, often without diagnosis, without treatment, without research, therefore often without quality of life.
The lack of specific health policies and the scarcity of expertise translate into delayed appropriate diagnosis and difficulty of access to care. The national health care services for diagnosis, treatment and care of rare disease patients differ significantly in terms of their availability and quality. European citizens have unequal access to health care services and to orphan drugs. UK citizens also have unequal access to health care systems as each health region may have different expertise, understanding, funding situations and approaches.
Research on rare diseases is scarce.
WHAT IS THE DEFINITION OF A RARE DISEASE?
The definition varies from country to country. For example:
WHAT IS THE DIFFERENCE BETWEEN INCIDENCE AND PREVALENCE?
Prevalence is the number of people living with a disease, at a given moment. Incidence is the number of new diagnoses in a given year. There are between 6,000 and 8,000 rare diseases.
HOW MANY RARE DISEASES ARE THERE?
The Rare Disease Coalition UK quotes over 3.5 million people with rare diseases in UK and 30 million in Europe. They also state that 1 in 17 people in the UK will develop a rare condition at some point in their life.
In 2008 the population of the UK was recorded as 61.3 million. We estimate that there are between 400 and 600 people with Birdshot in the UK. Therefore there is approximately 1 in 150,000 people in the UK with Birdshot.
What is an orphan disease? It is a disease that is so rare that it has not attracted funding for the development of treatments. Birdshot fits in to this definition.
What is the UK view on rare diseases and orphan diseases? In 1998 the European Union recognized rare disorders as a public health issue faced by 5-8% of the population across Europe. It was agreed that a pan European approach would improve the situation of all those affected by rare disorders. Hence a Programme of Community Action on Rare Disorders (1999-2003) was produced and funded for this purpose, designed to:
BIRDSHOT STATISTICS
Birdshot is considered to be a rare disease under the UK/European definition, and we, with Birdshot, know all too well of the struggles and battles to get appropriate diagnosis, treatment, understanding of the disease and research into more appropriate medication or prevention of the disease.
With Birdshot, we do not know either the incidence or the prevalence.
Initial research we (Rea and Annie) undertook shows that there are at least 300 people in the UK with Birdshot (the prevalence), but we suspect that this is under-reported, and it is important for us to undertake epidemiological research to establish the incidence and prevalence, before we can move on to research to determine what causes the disease and how we can treat or prevent it into the future. We also believe the incidence of Birdshot is increasing, either because it is being more readily diagnosed, or because more people are getting it. We also note that the disease seems to affect both males and females (it used to be believed that it was biased towards females) and that it seems to be affecting younger people in their 20s and 30s as well as people in their 40s and 50s and later. It used to be believed that the mean age of onset was early 50s.
ORGANISATIONS WORKING WITH RARE DISEASES
WHAT DO PEOPLE WITH A RARE DISEASE FACE?
Nearly all patients with rare diseases face common problems including:
o Lack of access to correct diagnosis
o Delays in diagnosis
o Lack of information about the disease
o Lack of scientific knowledge of the disease
o No appropriate treatment for the condition
o Significant social consequences
o Lack of appropriate quality healthcare
o Inequities and difficulties in access to treatment and care
We, with Birdshot have experienced many of these problems and BUS strongly believes that people with Birdshot (and other rare diseases) should be receiving at least as good treatment as people with diseases that are not classed as rare or orphan.
WHAT IS BUS AND UIG DOING TO SUPPORT RARE DISEASE DAY?
UIG, through Rea Mattocks (chair of UIG and co-founder of BUS) sits on one of the working groups set up by the Rare Disease UK coalition. The working groups are developing a proposed strategy for the treatment of rare diseases in the UK.
Rea and Annie have been interviewed about their stories – these stories should be appearing in the national and local media over the next few weeks – we will keep you posted about when and where they are likely to appear.
UIG and BUS have been attending the All Party Parliamentary Groups of Eye Health and Rare Diseases to make sure that our views are taken into account in relation to governmental policy.
BUS has been busy setting up an annual Birdshot conference which will further raise the profile.
BUS has offered support to clinicians dealing with Birdshot to help them find their way round the complex health care systems, in the event that patients are turned down for various medication regimes.
If you can think of any other ways of getting our message across, please e mail us at Birdshot@live.co.uk
We will be trying to place our new A4 hospital poster in eye clinics where uveitis is treated, so people who have a diagnosis of Birdshot can contact us for information and support.
If you want to make sure that the eye clinic you attend displays the poster, we would be grateful if you could write to us at Birdshot@live.co.uk with the name and address of your clinic/eye hospital and the name of your consultant. We want to make sure we get the posters to the right person. Alternatively, if you would like to take the poster in yourself, write to us at Birdshot@live.co.uk and we will send you copies. There is also a version in yellow and black.
Please help us to spread the word.
Once again our thanks must go to David Bethell, (our logo designer) , who has designed this striking poster for us. We are very grateful for his valuable contribution in helping to get BUS and Birdshot better known.
We recently came across this article about the long term effects of Alendronic acid and thought we should bring it to your attention. The long and the short of it is that it is not a good idea to use the drug for periods of longer than 5 years, as it has the effect of making your bones go brittle and actually causing breaks.
Naturopath, Jacob Schor, ND, FABNO, writes:
“The drugs that have been used with apparent success to treat osteoporosis may now have a problem. Alendronate may weaken bone and lead to increased fracture risk. Continue reading
There’s an interesting article written in this month’s “Pharmaceutical Marketing Europe” magazine entitled “Make Contact” by Brenda Snow who suffers from MS.
It states that “taking the time to listen to sufferers’ stories helps patients, doctors and industry relate and benefit.”
There’s a lot that will ring true for people with birdshot – below I post a part of her introduction:-
“Life isn’t always fair, it’s a lesson we all have to learn eventually. It’s how we deal with those bouts of unfairness that help define us as individuals. Sometimes, dealing with adversity can actually have positive outcomes.
The pharmaceutical company/patient relationship is changing and should continue to change and develop, moving forward.
The pharmaceutical company/patient relationship has traditionally been: patient gets ill; patient visits doctor; doctor talks to patient; doctor prescribes medication for patient; patient receives medication from pharmacist, and hopefully patient reads patient information leaflet. In essence there has not been any kind of real relationship or genuine connection.
My first suggestion is that pharmaceutical companies need to listen to patients in order to focus more on what matters to the patient population. Many pharmaceutical companies are doing this already. Those that are not should at least be cognizant of what is being said about them, specifically online. This is a plea for pharmaceutical companies to connect with the patient communities they serve.” Follow this link to read the whole article.
I called Brenda Snow because I was interested to see if she had any ideas about what could be done to ease the supply of cellcept, or change Roche’s decision in relation to Zenapax. She was very friendly and helpful.
She suggested that if the supply of Cellcept was so difficult, we could perhaps ask our doctors to consider prescribing a very similar drug called Myfortic, which apparently has an enteric coating on it which makes it less harsh on the stomach, but it uses similar ingredients to cellcept as is often used successfully for transplant patients.
As far as Zenapax was concerned she said she said she would try to see what could be done, including find out if there are any generic versions of the drug.
We’ll let you know what we find out. Annie
Rea has just had another battle to get hold of cellcept. Usual story – all supplies used up. She finally got it from her very local, small pharmacist who is now trying to find further stocks for her and one other patient they have on cellcept. Rea is not alone. Annie’s pharmacist has experienced a recurrent problem getting hold of the pills, but he has, up to now, never let her down.
The difficulty seems to be that wholesalers use up their quota of cellcept quite quickly. Smaller pharmacists seem, in our experience, much more willing to order direct from Roche (the manufacturer of Cellcept), if the wholesalers have used up their supplies. Smaller pharmacists are, in our opinion, also able to build up a relationship with their customers and understand their illness, and the complications inherent in each type of medication their customers are using. As Rea said: ‘My local pharmacist spends a lot of time with me, working out when I am next likely to need medication, and trying to ensure that the medication will be readily available’.
One person we know was told by the “large chemist”, to just ask your GP to prescribe a different immuno-suppressant!
Annie always tries to make sure she has at least two weeks of pills left when she requests her repeat prescription to allow her pharmacist enough time to hunt down a supply.
Do others encounter this difficulty? Perhaps we need to draw the problem to the attention of Roche. What do you think?
Its obvious I know, but it is crucial to take your meds when you are supposed to, and as you are instructed to. Continue reading