Loss of ability to eat/swallow and control jaw; loss of speech; inability to use right hand

[KCLC]

Approximately 2 years ago my now 9 year old nephew was referred to a neurologist following onset of a multitude of inexplicable symptoms.

At the time, the main concern was that he had lost the ability to speak, stammering and stuttering profoundly before uttering even the simplest of words, violently blinking his eyes in frustration, flapping his arms, stamping his feet etc
At the same time, he was losing the ability to use his right hand – he was right-handed, but suddenly holding a pen or a spoon /fork, a cup became impossible.  Although the stammer was a gradual deterioration of his ability to speak, the lack of function of his hand appeared to come on out of the blue.    

His symptoms have now progressed so much that now he has completely lost the ability to eat/drink, almost as though he has forgotten how to swallow.  He has no control over his tongue, teeth or jaw – he has to hold it up and physically move it to help him eat.  He is now having to be fed via his stomach to keep his weight stable.

Now thinking back, he has had problems throughout his life with his co-ordination (tripping/falling a lot) drooling when speaking, eating, twisting his fingers etc.  But these were put down to him being a boisterous young boy, very active and always in a hurry.  

Despite numerous CT scans, lumbar puncture tests, neural examinations, referrals for speech therapy and consultations with specialists and not to mention a cocktail of pills and potions (including dopamine and treatments for Parkinsons-type diseases) there remains no positive diagnosis of the “condition”.

The family have lots of theories, ranging from links to him being given the MMR, genetic disorders and even a possible link to him having had ALL of his milk teeth taken out at once as a young child, under general anaesthetic.
Do any of the symptoms described sound familiar?  Any comments relating to thoughts as to what this condition might be, its’ cause, its’ treatment would be gratefully received.

Thank you.

KC

[Nicknameless46]

I think there's quite a bit of research going on now into neurodegenerative disorders of children - they seem to be identifying more of them all the time. Many are genetic and many are based in the endocrine system; for instance, there is a whole list of what are called lysosomal storage diseases, many of which affect children and cause problems similar to those you describe. If your grandson hasn't been seen by an endocrinologist, I'd certainly demand a consultation - and then later, if they can manage to identify his disorder, you may want to talk to a genetics counselor who can fill you in on the rest of the story.  At least that's what I'd try next - endocrinology - if you've already run the gamut in the neurology department.  I wish you the best and hope things turn around for him very soon.