M – Interview 19  

M – Interview 19

Age at Interview: 39
Sex: Male
Age at Diagnosis: 16
Background: M is married with one child and is self-employed. Ethnic background/nationality: Jewish

Brief outline:M was diagnosed with torsion dystonia at 16, five years after developing an unusual gait. As treatment M underwent Deep Brain Simulation, which initially was not successful. With a second opinion, the electrodes were repositioned resulting in more success.

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M is amazed that specialists took five years to diagnose torsion dystonia.

 



And I just yesterday, by complete coincidence come across a letter that is sent to my professor in Israel which was quite amazing how accurate his prediction was, how accurate his diagnosis was and it’s particularly amazing, now we have got to know now that it is a condition that is privileged in the, amongst the Jewish, Ashkenazi Jewish population that it took such a long time to diagnose, it took them a five year period from the first manifestation until they had a diagnosis - in Israel. And we did see the best neurologist in Israel. 
 
So the lack of knowledge is quite, in this respect, is quite mind blowing. At first we had to go to the UK to get the diagnosis of what would appear today, rather obvious. Because it is the absolute typical cause of the condition, early onset at the age of eleven, beginning at puberty and starting slightly in one limb, it’s quite normal for it to start in the leg, and slowly develop into other limbs and parts of the body. 
 
So it ticks all the boxes in the diagnostic book of torsion dystonia and yet in spite of seeing three or four of the top neurologists in Israel the diagnosis wasn’t made at that point. It wasn’t until I came back from visiting Professor A that it was they could confidently say what it is. And from then send me to millions of tests and MRI’s and lots of different tests, I’m sure they electrified every bit of my body to see what it was, and yes, they were able to identify it.
 

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