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Alpha One Foundation -
An Easy Guide to Rare Diseases in Ireland
An Easy Guide to Rare Diseases has been produced to increase awareness about the challenges of living with a rare disease and to highlight the priorities that need to be included in the forthcoming National Plan for Rare Diseases in Ireland. This guide was launched by Minister Alex White on Rare Disease Day 2013 in February of this year with the help of IPPOSI and includes a profile of Josephine McGuirk, an Alpha-1 patient.
This guide has several aims including to explain what a rare disease is, to highlight the challenge of living with a rare disease in Ireland through patient profiles, to identify priorities that should be included in the National Plan for Rare Diseases in Ireland and to contribute to the development of a National Clinical Programme on rare diseases in Ireland. The guide also profiles 15 people living with a rare disease in Ireland, one of whom is Josephine McGuirk, an Alpha-1 patient.An Easy Guide to Rare Diseases can be downloaded here.
Source: Alpha One Foundation
Book Release - Rare Diseases and Orphan Drugs: Keys to Understanding and Treating the Common Diseases, Jules J. Berman
The premise of the book is that the common diseases can be approached as aggregates of rare diseases. Drugs that are effective against rare diseases will always find some use in the treatment of the common diseases; and the best way to find new treatments for the common diseases is to fund research into the rare diseases.
"This book about rare diseases is a rare book. Few authors have the breadth of knowledge to cover the field of rare diseases. Jules J. Berman, well known in medical informatics, tutors the reader with a mix of history,genetics, medicine and social commentary on common versus rare disorders. The book is readable, interesting and unexpectedly entertaining. It is not a textbook or a compendium, but for anyone interested in rare diseases generally it is a unique and informative read." -M. Ian Phillips, Editor, Expert Opinion on Orphan Drugs, Director, Center for Rare Disease Therapies, Keck Graduate Institute, Claremont, CA, USA*
"At last, a book that makes these complex matters comprehensible. Dr. Berman has produced a very significant work here. He manages to bring together the complexities of genetics and inheritance and the complex relationship of rare diseases to common diseases, and weave them together to explain many things about human biology and disease. His use of over 100 rules, with a rationale for each, is a novel and very useful way of summarising key points of his work. These rules will be a valuable aid for students as well as lay readers wanting to better understand this complex area." -John Forman, Executive Director, NZ Organisation for Rare Disorders, Wellington, New Zealand*
"Rare Diseases and Orphan Drugs: Keys to Understanding and Treating the Common Diseases bridges our understanding of the common diseases and the rare diseases. This unique and much-needed book provides an insightful glimpse of how biomedical research will play out as the rare diseases take an increasing role in the way we understand and treat the common diseases. Healthcare professionals, students, biomedical researchers, and advocates for rare disease research will find that this book applies common sense to a rare subject." -Stephen G. Groft, Pharm.D., Director of the Office of Rare Diseases Research, U.S. National Institutes of Health, 1993-2014 (retired)*
* For full endorsements and availability please see the Elsevier site
For more information please visit the author's website
The I Have IIH Foundation Release New Infomation Booklets
Why raising awareness for IIH and providing essential support and information is a priority
Everyday people affected by Idiopathic Intracranial Hypertension, suffer with debilitating symptoms and chronic headaches. It can affect ANYONE of ANY age, gender, body type, and ANY ethnic group. It primarily starts with an unbearable headache that never goes away, neck stiffness, balance and memory problems as well as other worrying symptoms.
IIH is often misdiagnosed as Migraine, Brain Tumour, Depression, ME/CFS and many other conditions. On average it can take up to 3 years for it to be diagnosed, and is usually found after visual problems occur. Visual problems can lead to either partial or full vision loss, when surgery is then necessary to halt the process.
Lack of accessible information
When patients are diagnosed with IIH, they come away often more confused by the condition, rather than with a complete understanding of it. Although some doctors will explain the basics as much as they can, the medical terminology tends to add more to a patients confusion and worry. A patient will go home only retaining the frightening aspects of the condition, rather than anything that is going to help them in the long run.
If the person diagnosed doesn't understand the condition, how can they make anyone around them understand, and get the support and understanding from them that they need? The answer is they can't! This lack of accessible information will mean they then have to look to the internet, which will throw up many support groups and forums, where people with the condition have posted. Some of the posts can read like a horror story to someone newly diagnosed, and will only add to the fear of the condition and any possible procedure or surgery. What then will this mean for a newly diagnosed person?
While some information on the internet can help inform someone newly diagnosed, it can also send them spiralling into the depths of despair, as they can only vision the very worst in front of them, rather than to acknowledge that everyone is different, and the outcome is not always the same for everyone. People with successful outcomes with this condition do not find it necessary to go back to support groups, or forums on-line to relay this to others, but choose to concentrate on going back to a life they had, before the IIH symptoms interrupted it. So to the many searching the internet, they will struggle to find any optimism or hope with this condition.
Misunderstanding of the condition
To the naked eye a sufferer looks well, but is actually too sick to do everyday tasks. The headache is often so severe that they experience depression and anxiety. In ALL cases they feel isolated and misunderstood. The impact this condition has, is not only a physical one, but an emotional and financial one too, and can affect a whole family. In many cases sufferers of IIH, end up losing their employment, because they have taken too much time off work, or have struggled with the daily requirements of their jobs, Not all employers choose to help by adjusting their hours or duties to allow them to continue to be productive.
Family and friends find it hard to understand the symptoms of IIH, and what it means to someone with it. We see many cases of members in our support forums, stating how their families and friends don't understand that they can't do the things they did before, and how stressful they find this lack of understanding. Many struggle with the strain it has put on their relationships with those closest to them, and how no one understands them to the point they don't see those people any more. There have even been some who have been called lazy. If this was any other disease or condition, would it be questioned?
How can a difference be made with awareness for IIH?
The more information and awareness there is for IIH, the more accepted it would be, just like any other known neurological condition. There would be less cynical and ignorant views about it, no need for proof or in depth questioning. For IIH to be as well known as MS or Epilepsy for instance, would indeed make a great difference to a sufferer, because they would have confidence in the fact that it was known to the general public, and accepted for what it was, a neurological condition that could affect anyone at any time, and was not something that was caused by something the sufferer had done to themselves for example; weight gain, which is one of many causes, but not in all cases, but anyone who's weight has triggered it, should still not be treated with contempt.
If someone was to say they had Epilepsy or MS, I am sure that sympathy and compassion would be unconditionally given. This is not so when a person says they have IIH. Why? The recipient being told won’t have heard of it before. Does this mean then that it’s not really an illness? When it comes to the general public understanding, it is completely alien to a great majority of them.
For a sufferer to have total social inclusion, awareness and acceptance of the condition is needed, which again, means that awareness is key to this. At the moment we have found that many sufferers do feel socially excluded, and can only therefore; feel accepted by others with the condition. As this is a rare disease, this still means there are many not able to connect with others, especially if they are in other countries, where even less is known about the disease. In our support forums we have sufferers from as far away as Australia, Hong Kong and even Africa.
Wherever they are from, their posts often have in common the same points about the lack of information, understanding and support.
Working to change perception
It is us, and organisations like us, that are working to change the perceptions of the general public, in regards to Idiopathic Intracranial Hypertension, by listening to the people who are affected, and what their needs are. We have already made progress by producing a series of booklets to support patients, through their diagnosis and treatment. These booklets, a total of nearly 8000 have been sent to 230 hospitals in England, with the rest of the UK to follow.
Our booklets will be accessible to patients with IIH, especially the newly diagnosed, as hospital consultants start to offer them to them. The booklets will provide all the information needed, as well as reassurance in relation to what they are going through. It also means that this information can be accurately filtered down to their friends, families, employers etc. Plus, they will have the information they need to connect to us. They, and the general public, will have information available to them, in an accessible format and from a reputable source.
There will no longer be the frustration caused by not having this information at their fingertips, nor trying to access it amongst the many horror stories they can find on the internet. By having information at hand, thousands could benefit, especially in the long run.
Change however, as often is the case can take quite a while, but we have made a start. Hopefully in time, we will see the perceptions of IIH change, and sufferers feel less and less isolated and detached, from the very society, they were a part of before they developed IIH.
For more informaiton please visit the I Have IIH website
Source: Heidi Wilson, I Have IIH Foundation firstname.lastname@example.org
Findacure Crowd Funding Campaign
What are fundamental diseases?
Fundamental diseases are extreme and rare genetic disorders, which offer a unique opportunity to better understand other diseases, including many common conditions.
Take the drug statins for example. Statins were originally developed as a result of research into the mechanisms of an ultra-rare disease called familial hypercholesterolemia. Statins are now the most common treatment for high cholesterol, prescribed to millions of people.
Another great example is the ultra-rare disease alkaptonuria. Latest research into alkaptonuria is revealing new insights into the causes of osteoarthritis, which could lead to the development of new treatments.
Additionally, research into a group of rare neurological diseases called neuroacanthocytosis is helping to understand Parkinson's and Huntington's diseases.
Why do fundamental disease patients need support?
There are hundreds of millions of people worldwide with these diseases, but they are mainly ignored due to their rarity.
As a result, patients are often overlooked, isolated, and neglected due to the rarity of their conditions. Many go through life without ever meeting another person with the same condition. If patient groups are set up, they usually only offer basic support and do not have the time to expand the organisation.
However, for fundamental diseases, the patient groups are a vital partner. Research from Rare Disease UK shows that patient groups act as a vital source of information and support for patients. They are also the first port of call for pharmaceutical companies and academics preparing clinical trials for possible treatments.
Yet there is no support structure to help fundamental disease patients to set up their own formalised patient groups. Many do not have the knowledge to run these organisations and do not know how to get involved in research.
How we want to help:
We aim to fill this unmet need by developing a support system to help fundamental disease patient groups to grow and professionalise their work.
We propose setting up an easily accessible online toolkit and series of free workshops covering pertinent issues for these patient groups, ranging from how to manage a patient organisation to working with academia to help advance research into their disease.
We have already had one patient workshop in January, on the topic of accessing funding as a small patient group. It was a big success. We had over 40 patient advocates attending and four speakers; two from successfully-funded patient groups and two from fundraising consultancies.
The toolkit will comprise of a website which will display vital and useful information about important issues for fundamental disease patients and patient groups. This information will be complemented by a series of short videos that summarise technical topics into coherent, concise explanations.
We are asking for $25,000 to run a series workshops throughout 2014 and to set up our online toolkit.
So please donate now. EVERY dollar you donate will be MATCHED by our generous funding partner, Myrovlytis Trust.
The 2014 annual report on rare disease activities in Europe is now available
The annual report on the State of the Art of Rare Disease Activities in Europe is now available online. This extensive report, elaborated by the Scientific Secretariat of the EUCERD Joint Action, with the cooperation and input of the rare disease community including Member States representatives of the EC Expert Group on Rare Diseases, provides a comprehensive overview of rare disease and orphan drug activities at both the European Union (EU) and Member State levels throughout 2013. The report includes EU Member States’ progress in developing and implementing a national plan/strategy for rare diseases, as recommended by the Council Recommendation on an Action in the Field of Rare Diseases.
By end 2013, the deadline to elaborate national plans/strategies for rare diseases, most EU Member States had submitted a plan/strategy to their national authorities and sixteen countries have adopted a plan/strategy. France and Spain have implemented and assessed their first plan. As a number one priority, most countries plan to identify and design centres of expertise for rare diseases. Many of these plans/strategies, however, have no dedicated budget for their actions, a result of the unfavourable economic context which may hinder the implementation of defined measures. The next challenge for EU Member States will be to effectively implement and assess these plans, which the new Commission Expert Group on Rare Diseases will follow closely.
The year 2013 was not without its highlights. The EUCERD ended its mandate with two new recommendations and one opinion adopted in 2013 (five recommendations and one opinion adopted throughout its mandate). It is hoped that the Committee’s success to meet its goals will be mirrored by the new EC Expert Group on Rare Diseases which replaced the EUCERD in January 2014. Once again, Rare Disease Day was an immense success in 2013, with 73 participating countries. 2013 also saw important developments concerning the 2011Cross-Border Healthcare Directive, which led to the publication in 2014 of the Commission Delegated andImplementing Decisions concerning European Reference Networks.
The International Rare Disease Research Consortium (IRDiRC) also underwent a year of intense activity with the constitution of its Scientific Committees, the first IRDiRC conference in Dublin in April 2013 and publication of its policies and guidelines, all aimed to reach diagnosis of most rare diseases and 200 new therapies for rare diseases by 2020. Regarding orphan medicinal products, the EMA received 201 applications for Orphan Designation in 2013, the Committee on Orphan Medicinal Products adopted 136 positive opinions and the European Commission granted 136 orphan designations. Seven new orphan medicinal products received EU marketing authorisation in 2013.
For first time readers, the five-part report’s first volume provides an overview of rare disease activities in Europe. Additional individual country reports are available via the National resources link. These country reports provide up-to-date information concerning national activities on rare diseases. For readers familiar with past reports, a synthesis of all 2013 activities is proposed in Part II, Key developments in the field of rare diseases in Europe in 2013. The report covers the following topics: development of centres of expertise; registries; genetic testing resources and activities; patient organisation activities; information resources; guidelines and recommendations; educational initiatives; research and funding mechanisms and participation in EU-level projects; rare disease conferences and events; orphan medicinal product incentives, availability, reimbursement and pricing policies; and specialised social services. Readers will find bibliographies, web addresses organised by country and rare disease national plan/strategy document links. Once again, over one hundred contributors supported this report update.
The six volumes of the report are freely accessible via the EUCERD Joint Action website. *
UK and Ireland are recruiting Post-validators for Research Activities within the Patient Organisation community
UK/Ireland patient organisations and funding bodies registered on Orphanet can now contribute to review Orphanet’s content for research activities (in the UK and Ireland) by becoming Post-validators.
Post-validators check regularly the activities/services linked to the disease(s)/group(s) of diseases of their field of expertise and report to the national team any missing activity/service or incorrect information. This can be done by email or by using an online form available at www.orphanet.org.uk or www.orphanet.ie-> Register online & more -> “Report missing / incorrect information regarding research activities”.
To become a Post-validator, organisations need to be registered on Orphanet and be active and easily contacted. An application form is available at www.orphanet.org.uk or www.orphanet.ie -> Patient organisations -> “Become a Post-validator”. This is a voluntary collaboration and any organisation can opt-out at any time.
The initiative has been welcomed by the patient organisation community and the new recruited post-validators are already reporting missing and incorrect information. Further, many are endorsing clinics that are missing from Orphanet but have offered their group members a fast and accurate diagnosis and/or an excellent care and treatment of their condition. The list of recruited Post-validators to-date is available at www.orphanet.org.uk or www.orphanet.ie->Registries, Biobanks and Research Projects -> “Post-validators”.
The Orphanet Mobile app: six months after its release
*Source: OrphaNews Europe
Last update: 17/07/2014