Posted on the Department of Health website, National Metabolic Disease Awareness Week highlights the urgent need to recognize this significant group of medical conditions , which often first appear in childhood and cause more disability and deaths in that age group than cancer.
Although individually rare, genetically inherited metabolic diseases (or Inborn Errors of Metabolism) account for over 1000 complex, life-limiting and chronic diseases, most of which present with symptoms in infancy or early childhood. Awareness of metabolic diseases as a possible cause when presented with a specific cluster of symptoms is vital to increase the chance of early diagnosis and potential treatment in order to alleviate suffering and premature death.
For each individual metabolic disease there exists a different enzyme or group of enzymes. We are all familiar with “enzymes” present in biological soap powders which “eat” the dirt in our laundry. Similarly, some enzymes in our bodies “eat” or breakdown chemicals that would otherwise become toxic while others build them up to develop or repair cells ensuring our metabolism is functioning efficiently. The role of each enzyme is programmed by the genes we inherit, so if the gene is faulty, we inherit a faulty enzyme - and a metabolic disease.
Medical research has led to a number of effective treatments in recent years, including enzyme replacement and development of specifically targeted “orphan” drugs. However both approaches are expensive and require special measures to secure funding. A number of metabolic diseases can be controlled by adopting a severely restricted diet with a reduced amount of the substances that the missing or faulty enzyme cannot process but, surprisingly, this approach is not effective for all metabolic diseases.
New hope is presented with the development of gene and stem cell therapies, but clinical application of these approaches remains several years away. There is still no cure for any metabolic disease. For Forty years one metabolic disease, called PKU (Phenylketonuria), has been detected within the newborn period through the national heel-prick screening test. After intensive lobbying by Climb and because of its potential threat to life if undetected, another metabolic disease called MCADD is being added to the newborn screening programme nationwide over the next two years. Metabolic diseases affect up to 18,000 individuals nationwide while one in ten newborn babies may develop symptoms that indicate they have a metabolic disease, so awareness is vital.
The Climb National Information Centre for Metabolic Diseases is the only organisation dedicated to providing appropriate information and support on all inborn errors of metabolism and that occur in every age group to adults, families, patients, children, carers and professionals. In the last 12 months Climb has been in contact with nearly 9,000 service users and over 4,300 professionals while its website averages 55,000 hits per year with access by 52 countries.
When you think nobody is listening, Climb will take your call or email. We provide information on over 700 metabolic diseases, offering a unique service that includes support, befriending, contact networks and forums delivered by our family services team and supported by specialist advisers. We help with every aspect of life with a metabolic disease including diagnosis, referral to specialist care, available treatment and research, and support at critical times such as bereavement.
During National Metabolic Disease Awareness Week, Climb supporters will hold events across the UK to raise the profile of metabolic diseases and the charity’s work. These include Worm Charming, Duck Racing, stalls at various fairs and carnivals, street collections and a Horse Race entitled the climb.org.uk handicap stakes at Haydock Park on 7th July at 5.10 pm.
“I just hope Climb is always around for families like us as you can provide help and support at the initial diagnosis that others cannot provide.”
“You are the only people I have been able to find in the UK.. I would like to know how other people like myself cope with this disorder … Now I have found your website … you don’t know how it makes me feel that I have not imagined it all my life and felt like a freak””