Navigation Links
VIDEO from Medialink and Shire plc: Rare Diseases Must Be Top of the Health Agenda
Date:2/28/2008

First European Rare Disease Day highlights impact on people affected by

rare diseases

NEW YORK, Feb. 28 /PRNewswire/ -- European Rare Disease Day -- The first ever European Rare Disease Day will be launched on Friday 29 February...because it's a rare day that only comes around once every four years, of course.

(See video from Shire plc at:

http://media.medialink.com/WebNR.aspx?story=34701)

Collectively, rare diseases aren't rare. Rare diseases are defined as those that affect less than 5 in 10,000 people, yet there are approximately 7000 rare diseases, affecting up to 30 million people in the European Union. Current information about these diseases is not always sufficient, making diagnosis difficult. As a result, some patients may have to wait many years to get a confirmed diagnosis - making this a public health priority.

But what can we do about it? The European Organisation for Rare Diseases (EURORDIS) thinks a lot. It's an umbrella group that is building a pan- European network of more than 300 rare disease organisations across 34 different countries, to give a single voice to the large number of people affected by rare diseases.

Up to 30 million people are affected by rare diseases in the European Union. Put another way this could mean:

-- Every time the San Siro stadium in Milan hosts a football match there

could be over 5000 people there with rare diseases

-- There could be over 2500 people with these illnesses at EuroDisney on

an average day

-- In any one day, over 1400 people visiting the Louvre museum in Paris

could have these diseases

-- Over 4 million members of Facebook could have a rare disease

So what is a rare disease?

-- They have a low prevalence (affect less than 5 in 10,000 people), and

are often chronic, progressive and life-threatening

-- 80% of rare diseases have genetic origins

-- They are associated with a diverse range of symptoms that vary not only

between rare diseases, but also often within a rare disease

-- Relatively common symptoms can hide underlying rare diseases - leading

to misdiagnosis

-- They often cause a high degree of psychosocial burden.

Rare diseases are often poorly understood, and patients sometimes have to wait a very long time to get a correct diagnosis. This delay can lead to the clinical worsening of the patient's physical and psychological health and can cause anxiety, depression, and feelings of isolation for the patient's family.

Case study:

Fabry Disease (also known as Anderson-Fabry Disease) is a lysosomal storage disease with an estimated birth incidence of 1 in 117,000. It can cause a wide range of symptoms, including pain, skin rashes (known as angiokeratomas), gastrointestinal complaints, and affects many internal organs including the kidneys, heart, and brain.

The disease is caused by a genetic mutation that results in a lack of, or low level or activity of, an enzyme called alpha galactosidase A (a-Gal A). This enzyme is needed by the body to break down a fatty substance called globotriaosylceramide (Gb3). Without the enzyme this fatty substance builds up in the cells throughout the body and affects their normal function.

Due to the varied nature of the symptoms and the slow progressive course of Fabry disease, there is an average delay between the onset of symptoms and diagnosis of 12 years. Life expectancy is generally reduced by 20 years in men and 15 years in women with Fabry disease, compared with the general population.

Fabry disease is one of a group of 45 similar genetic disorders, known collectively as lysosomal storage disorders.

European Rare Disease Day is designed to improve the understanding, care and treatment of these kinds of diseases to improve the lives of those affected by them.

The next milestone for the organisation is a public hearing at the European Parliament in Brussels on 4th March. EURORDIS and MEPs Frederique Ries and Jules Maaten will present the issue of rare diseases as a public health priority, and examine the outcome of a consultation report and national plans for rare diseases.

Please call Medialink's Media Relations team on 0207 845 7300 to secure interviews with case studies, health experts, and other spokespeople; as well as b-roll footage and filming opportunities.

Registered journalists can access video, audio, text, graphics and photos for free and unrestricted use at http://www.mediaseed.tv.

02NY08-0156


'/>"/>
SOURCE Medialink
Copyright©2008 PR Newswire.
All rights reserved

Related medicine news :

1. Video: Nutrition Comes to NASCAR
2. Research Links TV/Video Game Playing With Child Obesity; Health Experts Back a New Approach
3. HealthInsuranceFinders.com Launches Video Contest for Young Directors
4. Video: Circulatory Care of New Jersey
5. MultiVu Video Feed: PUBLIC HEALTH EXPERTS CONVENE TO DISCUSS THE TREATMENT AND PREVENTION OF RABIES
6. VIDEO from Medialink and General Motors: On and Off the Track
7. TriWest and Montana VA Launch PTSD Video Conference to Reach Rural Health Care Providers
8. Verizon Introduces Broadband Video Call Center Link for Deaf or Hard-of-Hearing Customers in Mid-Atlantic Region
9. VIDEO from Medialink and Siemens: The Next Generation Allergy Test - Nothing to Sneeze At
10. Video and Photo: Leading CEOs Launch Alliance With American Red Cross to Strengthen Nations Preparedness for Disasters
11. VIDEO from Medialink and General Mills: Digestive Health
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:5/2/2016)... ... 02, 2016 , ... MedPro Waste Disposal, LLC (MedPro) is proud to announce ... its mail back service for an all-inclusive rate. MedPro Disposal President, Dan Hansen, says, ... to all of the clients in the country who are looking for an alternative ...
(Date:5/2/2016)... ... 02, 2016 , ... Zitter Health Insights , in ... Award that will recognize specialty pharmacies for their achievements in customer satisfaction. Winners ... Pharmacy Patient Satisfaction Survey compiled throughout 2016. Results will be published in Specialty ...
(Date:5/2/2016)... , ... May 02, 2016 , ... The 2016 World Ultimate & Guts Championship (WUGC) ... at Manhattan College, made the cut. The WUGC is being held in London, England this ... the gold in the men’s division, another gold in the women’s masters division, and a ...
(Date:5/2/2016)... MA (PRWEB) , ... May 02, 2016 , ... Pregnancy ... tips when trying to conceive. , “If you are ready to have ... Mache Seibel. “My book, HealthChequesTM: Journal Babies is your Personal Conception & Pregnancy ...
(Date:5/2/2016)... ... May 02, 2016 , ... ... Permobil, recently completed two groundbreaking studies that determined that the adjustability and adaptability ... critical in the prevention of pressure injuries, which are now referred to as ...
Breaking Medicine News(10 mins):
(Date:4/28/2016)... Dr. Vivek Ahuja , ... Ste phen Schmidt ... of cloud-based software solutions for life sciences, today announced key new ... wealth of insight to a growing business.  This will bolster the ... George Phillips joined ArisGlobal in the position of Vice President ...
(Date:4/28/2016)... April 28, 2016 TapImmune,Inc. ... innovative peptide and gene-based immunotherapeutics and vaccines for the treatment ... presenting at the 3rd Annual Growth Capital Expo ... , 2016 at Caesars Palace in Las Vegas, Nevada.  ... Wednesday, May 4 th by Dr. John N. ...
(Date:4/27/2016)... le 27 Avril 2016 ... progressé de +5% sur le trimestre, soutenu par ... consommables  Croissance de +16% des ventes ... Mauna Kea Technologies (Euronext : MKEA, FR0010609263 ; OTCQX : ... laser, annonce aujourd,hui son chiffre d,affaires pour le ...
Breaking Medicine Technology: