Update: 15th July 2010
The guys have made it to John O'Groats! They arrived 2 days ahead of schedule, having cycled a whopping total of 977 miles in 13 days! Well done, team! Check out Marwan's blog for the daily updates, photos, vids and tales of misadventure...
Max, our middle son, was diagnosed with CGD last year. The CGD Research Trust have been fantastic in providing information and support; they are at the forefront of research in the field, improving treatments and extending life expectancy. Max is likely to have a Bone Marrow Transplant next year which will, hopefully, be curative. (Louis is a perfect match and has kindly agreed to donate some!) We want to help support this wonderful charity and give something back.
CGD (Chronic Granulomatous Disorder) is a rare inherited disorder where the white blood cells of the immune system cannot produce the natural disinfectant to fight some bacterial and fungal infections. Sufferers are vulnerable to serious illnesses and life threatening complications from exposure to things that would not normally harm the rest of us. For example, the dust from building works or grass can harbour harmful Aspergillus spores, which could result in a potentially fatal pneumonia. Abscesses may form on internal organs and abnormal inflammatory responses can seriously impact on the quality of life of those affected. People with CGD must take daily medication to help prevent infection. Bone marrow transplantation and gene therapy may offer a cure to some but are not themselves without risk nor long term side effects.
The CGD Research Trust
The CGD Research Trust was founded in 1991 and is the only national charity specialising in CGD in the UK and Europe. The Trust provide a range of services directly to people with CGD and their families and work with medical professionals to improve diagnosis and encourage better standards of treatment. Practical support and information is offered in a number of ways, via a telephone helpline, a newsletter, factsheets, a website and organised events. The CGD Specialist Nursing Service is the only service of its kind in the UK, the Nurses meet face to face with patients, offering direct medical advice and support; acting as a liaison between the various health professionals and patients to co-ordinate their care.
The CGD RT has carried out groundbreaking research at leading centres in the UK, Europe and the USA. Over the last 15 years, £3.6 million has been put into 42 projects. Lifesaving treatments have been developed and life expectancy of sufferers has increased as a result. The Trust has funded research into gene therapy, a potential cure for CGD. From early work in the laboratory, clinical trials of gene therapy for CGD patients are now underway.
Areas For Development
Continuing research
· Recent promising results from clinical trials in gene therapy may offer a cure for CGD
· Developing treatments for the inflammatory complications in CGD- this work is also central to other diseases such as autoimmune disorders and cancer
· Prevention of infection-the development of a vaccine against fungal infections has shown early promise and needs further study
Develop a universal standard of care for CGD
Delayed diagnosis is common. The CGD RT has funded a project, collaborating with experts in the fields of immunology, gastroenterology, dermatology and infectious diseases, to develop a standard framework for diagnosis and treatment of CGD. This is likely to be accredited by The Royal Society of Physicians and will have a significant impact on the standards of care received by CGD patients across the country.
Develop the CGD specialist nursing services to meet growing and further demand
As more people with CGD survive into adulthood, demand on the frontline nursing service grows. The nurses are a critical link between patients and professionals; with a unique knowledge of CGD, they continue to inform best practice, integrating services for patients across the UK.
Develop the advice, information and guidance for patients and professionals
· DVD for parents to help cope with diagnosis and impact of CGD
· New booklets and factsheets for parents about Bone Marrow Transplantation
· New workshops for families and parents
· Further develop the website to include more up to date information and links to services
