What does CMDN do and how we support families
The Children’s Mitochondrial Disease Network, our work to date, has always been based around, the isolation parents feel when confronted for the first time with a rare Metabolic / Mitochondrial disorder, Alpers being one of those devastating conditions. The same isolation we as parents felt when we lost our daughters Kristen at 8 wks and Stacey at 20 to Mitochondrial cytopathy. Kieran our son (18) is tube-fed, mentally and physically disabled, epileptic, despite all of there problems and 24 hr care, life is both good and hard, sad and tiring at times.
Knowing all this, we felt as a group our objectives had to be parental and professional based focused and led, working alongside, groups of similar interest and objectives, in this instance, we formed varying alliances, with SSIEM Society for the Study of Inborn Errors of Metabolism and British Inherited Metabolic Disease Groups, these two professional groups, which require peer approval to join, are made up of paediatricians, paediatric neurologists, researchers, geneticists, dieticians, biochemists, pathologists, nurses, consultants, all with an active and working interest in metabolic / mitochondrial disorders. They also produce quarterly peer reviewed journals and hold annual scientific symposium and advanced educational meetings. Over the years, we have sought their advice and assistance as medical adviser’s, which we still do, who to direct monies to and when to support and perhaps help additionally with educational resources, educational materials text books etc and further training.
An example may be to sponsor a consultant in training to attend a meeting which would significantly contribute to the further understanding of patients care in the field, support a UK scientific meeting, at these events we are actively encouraged to network and have a educational stand and display, with leaflets and documents, so other professionals can be informed of our ongoing work.
In addition, over the years, we have supported many families, in understanding, assisting with GP education and referrals and sometimes just to be there when times are dark and when we all face despair, explaining the varying processes of investigations and complexities of the mitochondrial world.
We attend any event which we are asked and provide talks to those whom request; most recent was the W.I. ladies meeting in Nantwich. We also have a number of dedicated volunteers who tirelessly arrange supermarket collections, where we also have a display and information available. We additional work closely with Genetic Alliance, in raising awareness, through Europe with EURODIS, European Rare Disorders Group.
The website is very important part of our work, which is now in its 3rd face lift, incorporating, educational resources, literature, links to other organisation that may prove useful and a platform where parents, family members can leave messages or ask questions.
Research, is always a tricky question, one due to the amount of monies that are involved, which we’ve never really had, two perhaps a realisation, that at present a cure is not in the foreseeable future, and as one respected biochemical researcher explained, Dr. Garry Brown, Oxford, “researchers will always find money, what they cannot do is have time to support and educate parents and families”, he said, “that’s why a group such as this is so vitally important, in raising awareness and educating the medical community in anyway you can.”