FOR PARENTS AND CHILDREN
You might have not been diagnosed yet, since not everybody is diagnosed at an early age. Sometimes, the CMS manifests in a way and sometimes it does it differently, sometimes it appears during the growing stage and sometimes at a very young age.
If you have tried to find out answers among doctors, paediatricians, specialist or traumatologists you might have gathered some advise or opinions about what disease or disability you have. But naming it is not everything, since this can sometimes make it more complicated or lead to a wrong conclusion.
Giving a name does not suffice. It is necessary to look for resources in order to make everyday life easier. Tools to make your life simpler such as guidelines to stand up from the floor or keep a better balance. The bicycle is a good example of how you can make an effort with no major difficulties. On the other hand, walking might imply great overstrain. On the bike you don’t have to carry your own weight and thus, you optimise the use of all your muscles when moving around. However, our condition doesn’t affect all muscles equally.
These motor resources may be misleading since they give an appearance of normality, which make it difficult for doctors to diagnose you. Sooner or later, with a little of luck you will find other well-versed specialists who can recognise this syndrome. In Spain, as in other European countries, specialists have been working on the condition and given, not only a name, but a surname, to the gene that has mutated and is causing your disability.
Despite the relevance all of the above mentioned, the most important thing is having the right environment around you, with people who understands you and are fully supportive.
The genetic alteration and the difficulties of its diagnosis make us perceive the world as very challenging. But we are thinking about the future and the possibilities lying ahead. This is why I encourage you to stay together, close to the people who are facing similar experiences, share the same type of feelings and have lived moments you thought no one else could understand.
We can help each other. We can help those who are coming and learn from those who are already here.