National Information Centre

for Metabolic Diseases

a resource for young people, adults, families and professionals

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Freephone 0800 652 3181

Supporting families,  

       Changing lives

 

 

 

 

 

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Welcome to Climb National Information Centre for Metabolic Diseases

Climb MCADD Conference 2013 in Northampton funded by the Charlie Mortimer Trust

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Our Vision                          

We are a national organisation working on behalf of children, young people, adults and families affected by metabolic disease. The National Information Centre for Metabolic Diseases is part of the Climb Group.  Climb (Children Living with Inherited Metabolic Diseases) is the United Kingdom's foremost provider of free metabolic disease information to young people, adults, families, professionals and other interested groups.

Our vision is to provide Metabolic Disease specific information, advice and support to children, young people, adults, families and professionals in the United Kingdom and to provide information and support to families worldwide, to fund educational and primary research programmes and to investigate treatments and medical services.

 

Contact us today to find out how you can help.

      

ENews and Climb Update

bulletNext Climb Update -- June 2013  -- Expect to be dispatched by the 14th June

Internet Forums
bulletRegister or Login here to use the forum
bulletTopics currently under discussion.. more ..

Family Contacts Network

bulletDo you want to be put in contact with another family with circumstances similar to yours..more..

What's  New

bulletClimb MCADD Conference 2013 (here)
bulletResearch Grant Criteria Updated here
bulletRevised list of available DVDs updated 06 2012
bulletFull List of translated IMD information more..
bulletClimb funded research projects 1982 - 2013 more..

 

 

SCREENING PILOT FOR AN ADDITIONAL FIVE DISORDERS LAUNCHED IN ENGLAND

 

Stats to date:

There is  5 month's data.

Screened Positives = 5 (3 IVA + 1 MSUD + 1 GA1)

False Positives = 7 (1 MSUD + 6 IVA)

Sibling Identified Cases = 3 (2 IVA + 1 LCHADD)

Estimated number of expanded screening births

     for the first 5 months = 179,169

Number of Declines for Expanded Screening = 159 (0.09%)

 

Climb welcomed the DoH announcement to introduce this a Pilot for screening newborns for a further five disorders from July 2012. 

The official DoH estimate is that 35 children will be detected during the 12 month project by early detection of their IMD. and stats to the end of November (above) reflect these figures. .

 

This project has been extended and will continue until the 31st March 2014.

 

Full details are on the project website here...

 

What is a Metabolic Disease

bulletNow available in English, Russian, French, Hebrew, Italian, Persian, Japanese and Danish

 

Why do we screen babies

bulletWhy and What do we screen for ... more ..
bulletPregnant with a family history of MCADD more...
bulletImportance of family history more...

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Last updated:
14 May 2013

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