The most important thing we can do is raise awareness of the condition. In collaboration with MDUK, we are aiming to produce publications which can be sent to professionals around the country. This is important, because being given a diagnosis and being told to 'google it' is not the best way for anyone to come to terms with this life changing event - and for many of us, it is a life changer - a bolt out of the blue.
MDUK are in the process of developing condition specific diagnosis booklets, of which we are aiming to have one for Congenital Myotonic Dystrophy. We are working together in developing a booklet with our shared knowledge and experiences that we feel would have benefited us when our children were first diagnosed. We will then share this information on this website and with people we meet that are newly diagnosed.
Your input could be very helpful here, if you have any comments on what did or didn't help you upon diagnosis, we would love to hear your experiences. This would be a great help in spreading awareness to the Medical professionals involved, who might not be aware what we need to help us at this time. You can send any comments to: firstname.lastname@example.org
Professor David Brooks, Imperial College London, and Dr Chris Turner, University College London Hospitals.
Muscular Dystrophy UK Conference.