Terrified Mum

Hello and welcome Ems, sadly under such circumstances. You are in a very difficult position right now, just as I was when my son, and subsequently myself, was diagnosed. It does feel like you whole world has come to an end, but it hasn’t. You know better than anyone that Nora is, and always will be your little girl, having an MD variant will never ever change that. Have no doubt whatever MD variant she has, it will lead to added complications in both of your lives as well as all the other members of your family. Inside she is still the same Nora. You will learn to cope. More than that, you will learn to adapt, you will learn to know that whilst she has MD she can still do many things (look at the BBC reporter Nicky Fox who has MD). My own son has gone on to teach himself all about computers, he has taught himself computer programming and taught himself how to create websites. On the basis of that he has managed to buy his own house within five years and he is not yet forty. He has used his MD, (FHSD like me) to create his interweb ‘handle’ and he is a man of whom I am exceedingly proud. He , and indeed I, has taken the view that he different yes, but not incapable. My FHSD lost me two careers, so I trained for a third. He is planning to go to the US to maybe work in Silicon Valley. Not every important contribution to the world needs to be made from someone who is completely fit and without ailment.
Much will depend on you and your family. You have the chance to help her write the story of her life through your encouragement, determination, and most important of all, your love for her, that will give her the will to succeed, regardless of the odds that you may think may be stacked against her now. Increasingly they are being stacked in favour of the person with MD, not just with the research that is going on into cures, but with the help and support that is available locally and nationally.
As a parent, you do not have the luxury to ‘not cope’. Many times before I am sure you have simply had to get on and do what is necessary, from changing that once in a lifetime nappy to taking her to hospital when she was ill. In my time as a clinician, and my time as an MD patient I have seen so many wonderful and uplifting children. How well they deal with these adversities often makes me embarrassed to complain about my problems. Nora will be no different. This little lady will need you more now than ever, not just to help her but to guide her and most importantly encourage her. Without the encouragement to do more, to do better, to overcome the obstacles she will not develop as well as she could, just like any other child. Your role in that sense has not changed, its direction has. Your goal has not changed either. You and your family have always wanted her to be the best she can be. That is no different now.a simple Google search about children with MD will show many happy and determined young people. Why should Nora be any different?
Until a proper, differential diagnosis, is made you will be a bit in the dark as to what will happen next. May I urge you not to try a DIY diagnosis by looking up the Sam Mr Google for the answers. They can be very frightening when taken out of context and without the right medical knowledge to understand what they all mean. If you can let us know roughly what area you live in then others may be able to put you in touch with local support groups. I would also urge you to keep coming back here and asking any questions you may have or even just to blow off steam. I will make no pretence that the road you will travel down is going to be smooth, it is not. But you should also remember that there are many of us here, and also connected to the specialists that you will see, that are there to help and support you and your family. you are not alone!
Mike

I am happy to have helped you a little. Follow Cat’s wise advice, and keep us up to date. You will find many a helping hand here.

Mike