Hello & a question

Hi everybody, I am based in London and about 18 months ago, my (now) 12 year old son started displaying some exercise fatigue/intolerance and variable difficulty in rising from chairs, getting up stairs, etc. Up until then, he had been quite sporty (he is football mad), doing very well at school, and generally being fine, except perhaps for being a bit heavy on his feet: e.g. he was never a natural jumper. Anyway, I was the first one to notice & worry about these emerging motor difficulties and I have to say I endured quite a lot of denial (‘it’s all in your head’, ‘he’s fine’, ‘you don’t want to subject him to tests’, ‘he is just acting in front of you’, ‘he is doing this for attention’, ‘it’s stress’) and a shoot the messenger kind of attitude from my earest and dearest. A (possibly unrelated?) black out episode of my son 12 months ago took us to doctors and lots of testing (e.g. MRI brain) to exclude a seizure disorder. The two neurologists who saw him then decided on the basis of the overnight EEG study that a seizure disorder was a possibility but went for a wait and see approach, as he has had no other ‘fainting’ episodes. In the meantime, a rather switched on GP noted some weakness on one side and somehow decided to take note of my concerns about his motor function and after a lot of health professionals (the two neurologists who shall remain nameless literally kept on dismissing my concerns and routinely casting me as an over-anxious mother). So, the GP pushed in fact for an EMG which was done last June (after 9 months of me saying something is wrong). The EMG sure enough was abnormal (the nerve conduction study was normal though) and showed myopathic processes. Another long-winded road lay ahead: we were referred to the GOSH neuromuscular unit with a possible metabolic myopathy diagnosis. On clinical examination, the specialist noted mild hip, neck & shoulder weakness and Gowers’ manoeuvre so he sent us for a new battery of tests on suspicion of a congenital myopathy and with metabolic or mitochondrial as differential diagnoses. So, lots of blood and urine tests were done, an ultrasound and an MRI and with the exception of some borderline changes in the ultrasound, all else was normal. So, next phase then was the specialist actually not giving us a diagnosis but a vague conclusion of the kind that the results of the EMG are not entirely explainable but not in line with the data of the tests. A structural or primary myopathy was highly unlikely, he said, and the common metabolic myopathies had been excluded. He claimed that there were other conditions that caused an EMG to be abnormal – without listing any- and he also suggested that a ‘contributing factor to the motor difficulties’ can be some element of dyspraxia. When we pressed him for a muscle biopsy- by then both parents had done some reading amidst the bouts of shock – he said that actually a biopsy would in this case give a non-specific finding which would have us none the wiser. So, he referred us to a neuromuscular physiotherapist and she gave my son an exercise programme and he had a follow up with her 3 months later and we were also told that he should avoid too much competitive sport and too much strenuous exercise and that we should have our son reviewed by a local hospital paediatrician every 6 months for as long as he was ‘stable’. Our son is overall doing well with better and worse days: he tires easily and his walking at times gets laboured but still plays football and keeps up with his peers at school: he is still running but not at great speed and without lifting his legs much. He is currently being seen by an OT, as one thing he is finding is that his handwriting is very slow and so he can’t complete exams on time.

As parents, we have gone through a range of emotions that would probably not be hard to relate to in this forum: my husband has been hopsitalized twice for panic attacks and I suffered a major depression around the time when I was noticing the ‘symptoms’ that other people claimed were in my head. I have been treated with anti-depresessants which have helped me become ‘functional’ again. But having spent the last 8 months or so following the medical advice of no more tests and just take each day as it comes, both parents are now asking the question of can we & should we be more active and is there a way in which we can move if not to a definitive diagnosis at least to something that will resemble a diagnosis? We feel that if we know a bit more about what it is that is going on we can fight it better, if that is the word, and at the very least gradually start talking with our son about his condition. At the moment, he has been told nothing other than general statements of the kind that he should not overdo it when exercising. And we have an older daughter (15 years old) who is also picking up on the limbo that we the parents are in. Any advice from this forum would be most appreciated. Even comparable experiences of non-diasgnosis would help normalize what we are currently experiencing as the worst uncertainty that can hit a parent. Many thanks and apologies for this long story (in actual fact this was the short version…), Alexandra.