Children Living with Inherited Metabolic Diseases is a charity registered in England and Wales (1089588), in Scotland (SC044634) and Company Limited by Guarantee (04267454)
© 2014, Climb. All rights reserved.
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. About 1 in 10,000 babies born in the UK has MCADD. Babies with this inherited condition have problems breaking down fats to make energy for the body. This can lead to serious illness, or even death. Screening means that most babies who have MCADD can be recognised early, allowing special attention to be given to their diet, including making sure they eat regularly. This care can prevent serious illness and allow babies with MCADD to develop normally. Screening babies for MCADD is important, so those with the condition can be identified before they become suddenly and seriously ill.
After over 5 years of the expanded newborn screening project and a National Screening Committee (UKNSC) public consultation, it has finally been announced that another 4 metabolic disorders will be added to the list of disorders that newborn babies are screened for. Climb was a member of the management group for this project from the begining and we are justifiably proud to have been involved in such an important project.
The disorders to be added are Maple Syrup Urine Disease (MSUD), Glutaric Aciduria Type1 (GA1), Homocystinuria (Pyridoxine unresponsive) and Isovaleric Acidemia (IVA). It is expected that screening will be offered from early 2015. Wales, Northern ireland and Scotland have expressed their interest in the UKNSC recommendation but will need to make independent policy decisions.
Regretfully the recommendation by Climb and many other organisations to include Long Chain 3 Hydroxyacyl CoA Dehydrogenase Deficiency (LCHADD) was not supported.
Events and Updates
Climb is pleased to be providing training materials to Midwives, Health Visitors and Screening Co-ordinators on MCADD and the new disorders recently added to the Newborn Screening Programme.
- New MCADD Booklet for Members here
- Holidays Abroad - MCADD Information card now available in Welsh, Spanish, French and Greek - please contact Climb
- MCADD Presentations available on DVD contact us on 0845 2412173 for your copy
- MCADD Information Leaflet in Welsh, Urdu and Punjabi
- Newborn Screening in Wales here
MCADD Conference 2014 (Bristol)This was another superb Climb Conference which covered all aspects of MCADD from Psychology to living with MCADD - a 14 year olds view. Full details of the day and copies of the presentation on the confence section of the menu bar.
Why do we screen babies?
- Why we screen and what we screen for more...
- Pregnant with a family history of MCADD more ...
- The importance of family history more ...
- Currently in abeyance - new blog coming soon.
Family Contacts Network
- Do you want to be put in contact with another family with circumstances similar to yours more ...