M - Interview 19

Age at interview: 39

Age at diagnosis: 16

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.

Background:

M is married with one child and is self-employed. Ethnic background/nationality: Jewish

More about me...

M began to walk with an unusual gait at the age of 11. He underwent orthopaedic surgery before being sent to see a neurologist a few years later. His condition gradually worsened, spreading from his right foot to his right arm. M travelled to the UK from Israel to see a well known neurologist who diagnosed him with torsion dystonia at the age of 16. M was surprised about the delay in diagnosis because of the presentation of his symptoms and because the condition is more prevalent among the Ashkenazi Jewish population. At the time of diagnosis M was told that the condition would steadily deteriorate and there was no cure.

 

For twenty years, M tried various medications which were largely ineffective. He served in the Israeli army, went to university, got married and had a son. He found the condition more challenging outside of the Kibbutz in which he had grown up because his walk was so different and became progressively worse. By his thirties, he describes it as a jellyfish trying to walk and he attracted a lot of stares when out in public.

 

He heard about a new treatment – Deep Brain Stimulation – and was considered a good candidate by the neurosurgeon because his gait was having a significant effect on his everyday life and his particular type of Dystonia (DYT1) was known to respond well to surgery. The operation involved attaching electrodes to a particular part of the brain, connected to a pacemaker which constantly stimulates the brain, masking the effect of the condition. The operation was not successful and after a year and a half, and having returned to the surgeon to check the positioning of the electrodes, M sought a second opinion. The second neurologist found that the electrodes were wrongly positioned and M underwent a second operation to remove them and reposition new electrodes. This operation was successful.

 

Within two days M could walk more easily and it was “like someone put a wet blanket over the source of noise; an amazing peaceful experience”. Since then, the electrodes have been finely tuned to balance reducing the effects of the condition while not affecting his speech too much. M describes the transformation he has experienced as “mind blowingly positive” although he would have liked some accountability on the part of the first surgeon.

M is the youngest of four siblings and, at the time of the condition onset, was the only known case of Dystonia in his extended family. Many years later, M’s oldest brother (in his 40s) developed a mild form of generalised Dystonia. 

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.

 

For years, M found it difficult to look at pictures of himself. But his successful 2nd operation has made him feel more able-bodied.

Whenever you get the sense of someone looking at you, it immediately triggers a vicious cycle because the condition is stress related. The level of its manifestation is stress related. So at the end of the day, or if you’ve going through a stressful period, it’s much worse. And the fact that it’s much worse, makes it much more stressful. So going out was always a challenge. I wouldn’t say it’s been reduced to the minimum, but it was always a mental decision, of “all right, I need to do it”. Be as confident as you can. But there’s always this niggling voice at the back of your head, saying, you look funny. 

 

It’s just, people are looking at you, and they’re saying, “is he, is he alright?” or “is he, is there something odd about him?” There was something odd, there was no two ways about it. There still is. But today, it’s such a relief compared to what it was. I was like... it’s incomparable so… back then it was like affliction in my mind. 

 

There was a horrible self image. I remember after the second successful operation, going to, at R’s first birthday we went to the, to the London Zoo. And I looked at the pictures and there was a picture of me carrying R on my shoulders, and instead, it was a still picture, it wasn’t a video. I looked at it, and thought for the first time in my life, this picture looks like the picture of a perfectly abled person. There was such amazing, it was like, I’d never seen a thing of myself, in previous pictures there was always something abnormal about my posture. 

 

At our wedding for instance, I didn’t want a video camera, because capturing me on video was always unbelievably difficult to see. So I don’t get, very few homemade videos. There wasn’t an official video, photographer. And even in the stills camera, even in the stills picture you can still see that there was something abnormal about my posture. And I had tremendous pain and tremendous stress. Also stress.

 

M feels out of his comfort zone when meeting strangers as he worries that they might not see the person behind the disability.

Did you say anything to people when you were out if they were staring at you?

 

Did I say anything? Not to... obviously my friends, and like my friends from the Kibbutz or from the Army, anywhere I travelled, they knew, I told them there was a neurological condition. It’s quite obvious there is something wrong so it’s not something that you can hide. But I didn’t wear a shirt saying, you know, because I’ve got dystonia; so forgive me because of the dystonia.

 

And you said it was when you left the Kibbutz you felt more disabled because within that environment people knew who you were and had grown up with you, finding out about this diagnosis.

 

I’m not sure I felt more disabled. But I felt more, well outside of my comfort zone because there was no question, that people... if you see the condition as it progresses slowly, gradually, beginning from perfectly able young boy to a relatively weak young, well 18 year old with some odd gait. It’s a long progress, it doesn’t happen overnight, so, there’s no questions asked. So it’s just grows, just like watching a tree grow. You don’t one day notice you’ve got a tree in the garden but when you go outside, you do, there’s gap that you have to compensate for which is under this superficial appearance there is me. And this gap has to be overcome every time you meet a new person.

 

So, it wasn’t like I felt more disabled, physically disabled as before, it was the interaction that was slightly more difficult with strangers. 

M had no hesitation in deciding to have brain surgery.

Before you had the operation the first time, I mean it’s obviously a significant operation, can you remember how you felt, and how your wife felt? It was quite a big decision to have that operation?

 

It wasn’t really a big decision. It’s a big decision to go under eye operation if you want to get rid of wearing glasses. In my mind that’s a big decision, because the pros are going without the glasses, but the … I don’t know what the risk is at the moment, just, that when your condition is so bad and the prospect of success, there’s a real possibility of success, it’s a very simple decision. It was very little … There was some concerns because it is a rare operation. And there were, I did, I didn’t say don’t investigate the risks, there was all sort of risks involved, but the decision to go with the operation was a very simple one. There was not a second of hesitation. So… 

Meeting others with the same condition used to be M's worst nightmare. Now he feels more ready to share his experiences.

And what about support? Have you joined any support groups? Or ..

 

Support or Sport?

 

Support.

 

Before the operation I was, while in Israel, Dr [name] was the head of the Movement Disorder Unit in Tel Aviv. He said, “Well we’re establishing a, a support group. Why don’t you join?” There was nothing… I couldn’t think of anything worse, than going into to a room full of people with my condition. It was my absolute nightmare. I was in denial, I wouldn’t say in denial. It was just I didn’t want to walk, I hate, I didn’t want to look in the mirror and an analogy if I looked at people with the same condition, physically. There was a little pavement in the Kibbutz, which at the end of it was it all sort of reflecting mirror, I wouldn’t walk on that, on that bit of pavement. I just couldn’t stand to see myself walking, let alone seeing someone… or seeing someone else with the same condition.

 

So now that I’m over the worst, I can easily see myself engaging in such.. happy to speak to, or share my experience, but when I was in the midst of it, I didn’t want to associate myself with anyone with that condition. So, I didn’t join any support group prior to the operation. We are now members of the Dystonia Society in the UK. In the UK, it’s the only society that deals primarily with other types of dystonia, so they’re not quite… it’s not that niche, which is the Jewish niche if you want. They focus on a wider group of torsion dystonia. 

Since he was a child, Ivor had had several episodes of excessive bleeding during which he needed a blood transfusion.

My, sort of my condition started at the age of 11, which was quite a few years ago, I noticed some deformation in my right foot and started walking with a funny gait, sort of throwing my right foot out as I was walking. Just to give some context, I was a kid, aged 11, living on a Kibbutz in Israel and normally walking barefoot, pretty much all year round and running on the grass and having lots of outdoor activity and suddenly I came to develop this odd gait. 

The first deep brain stimulation operation M had didn't work because the electrodes were in the wrong place. After a second successful operation, his gait is much better.

I tried many different drugs and I have been on drugs for twenty years, and with very little effect if any, well positive effect, but some quite disturbing side effects, which were primarily drowsiness, being rather weak, but feeling uncomfortable like that for many years, is quite disturbing. 

 

And at that point, at the age of 30 or so, we started to hear rumours about this new operation for treating torsion dystonia in a patient which was a brain operation. It’s called DBS – deep brain stimulation and it’s a rather dramatic operation but the results appeared to be quite good. So I started making further enquiries and once again found ourselves flying to England to see [Dr A] at [hospital B], who gave me the first assessment, and said it would appear to be a good classic case for the operation and I would be a good candidate for the operation. The same was said by, by [Professor B] who was my specialist in Israel. He said, “Your gait is sufficiently bad. And it has a sufficiently bad effect on your everyday life, for it to justify such a drastic action.” And so we met this Professor here in, in the UK and he said it sounds like a good idea, and something that could potentially give me good results. It could also significantly improve my quality of life.

 

So a year later [L] and I packed our stuff and moved to the UK, and in December 2004 I was in the operation room in [Hospital C] under the hands of [Professor C], who is a renowned neurosurgeon.

 

I expected to be, I wouldn’t say cured, but I expected to see a great relief in the condition. I woke up the following day. It’s a rather, from the patient point of view, it’s a rather simple procedure. It was done under full anaesthetic. It wasn’t very painful. There’s no bone cutting, there’s drilling through the skull, into a certain part of the brain, inserting an electrode into an area called the GPI – Globus Pallidus Interna and inserting a pacemaker under the skin here in the chest and then a cable connecting the two and the theory is, by sending this constant stimulation to this part of the brain, it somehow, I’m not sure exactly how but it does, somehow, relaxes the storm, the electric storm in that part of the brain, and the condition is significantly or the volume of the condition, the volume of the noise, is significantly reduced. 

 

So that operation was done in December 2004, and the anticipation was that in a few mon… a few weeks, six weeks later I would see the benefit. Weeks have gone by and there was no benefit whatsoever. On the contrary, there was quite significant deterioration. If I could hardly walk prior to the operation, making the, the smallest crossing the room was practically impossible. I was on the verge of, actually in some ways, I wished I was in a wheelchair, because then, if you’re in a wheelchair you can actually move. You can start putting the - those who can walk, and those who are in the wheelchair - it was being neither here nor there, because I couldn’t really walk, but I couldn’t, I couldn’t bring myself to sit in a wheelchair. So it was a horrible place to be. I’m not suggesting sitting in a wheelchair is good in any shape or form, but at least you are not all over the place and trying to get from A to B. 

 

You get this peace of mind. That’s the way I imagined it. It’s completely, obviously, I always remember that being actually able to get up and walk is a great benefit compared with others. But in my mind, I was in a terrible place not being able to walk and not being able to get from A to B otherwise. And my condition continued to deteriorate as time went by, and I went to see the neurologist, Dr B, and kept on being told that it takes a while befor

The electrodes attached to M's brain may affect his speech.

It does have… one of the main side effects, I’m not sure if it’s a side effect or just an effect of the condition on my speech. There’s a fine balance between, the dystonia taking its toll on the speech and the effect of certain electrodes. Each electrode has four contacts in it, and you take actually take each one of those four contacts, and there are many tricks you can play with. And it depends on which contact you activate, it could potentially have an effect on the speech area of the brain. As we all know the brain’s not divided, it’s not clear cut which part does what. It’s all sort of interrelated, and so we know that by sending a very strong signal it would have a better effect on my speech. If you turn the screw too low it would allow the dystonia to come back so it’s a fine balance, it’s a really delicate job finding the right compromise between not having too much of an effect. This side effect of the operation and the dystonia, both take effect on, on my speech. 

M explains how torsion dystonia affected him physically and how he started to walk backwards.

The gait was... when I looked at the letter from, from Professor A yesterday, he said, “Your gait will deteriorate, and you will be able to walk albeit it in a very bizarre way.” And I think that’s the best description. It’s a very bizarre way. It’s just walking with involuntary movement of the legs and the arms, and the trunk. It’s just all over the place, it’s shambolic. You can hardly describe it as a walk, it is like a jellyfish kind of trying to walk. It’s quite, I wouldn’t say, I’m not quite sure. I actually provided a short video of my gait, pre and post-op. If you’re interested in that obviously it’s really hard to describe in words but it’s quite dramatically odd. 

 

One of the odd things about this condition is that, I could easily walk backward. But the second I walked backward, it was as if this condition only kicked in when I was in forward gear. As soon as I put in reverse, it’s almost like vanished. Well I wouldn’t say vanished, but I could walk backward, much better than I could walk forward. I remember going for a walk once in [town] area, with L and her family down there. And I remember walking for miles backward, it’s extraordinary but it’s true, walking backward was much easier. 

 

And I’m not the first person, when I mentioned it to the neurologist, he said, “You’re not the first person to mention it.” Absolutely no explanation or suggestion why. Why this condition kicks in a certain pattern of movement and not in others. But that’s the way it is. Even in the house I used to walk here to there, I used to walk backwards, before the second op. 

 

Information has been easily available for M because his genetic mutation, DYT1, is common among Ashkenazi Jews.

I was very lucky always getting the best medical treatment, and virtually easy access to the highest authority in the neurological world, both in Israel and the UK. Information, since I think since the gene was identified as DYT1 which is the mutation common amongst the Ashkenazi Jews. Information was rather easily available. 

 

Obviously before you go into brain surgery you always have one more questions. I did speak to a few patients who underwent the operation before me, before I had the first one. And, it was always helpful and reassuring and, and, good results. But it wasn’t, if you know what information to look for, it’s very easy to find it, relatively easy. But it takes some investigation and, and trying to activate all the different information agents that you’ve got. But we were able to gather a relatively good information. Albeit we gambled on the wrong horse in terms of the first operation. 

 

In retrospect there’s no comparison between the first operation, which was done privately and which cost us a lot of money, which was covered by the insurance, but we paid an absolute fortune and received a five star service with terrible results. Whereas the second operation which was done in this amazing place, in [hospital B], which is a remarkable centre. I still go every now and again to get the system tested and to get the pacemaker. That’s where they do the fine tuning, so they’re still doing the fine tuning. It’s minor twists of it, but just to get absolutely the most of it, it’s such a great sense of team work, and, dedication and they will go all the way just to make sure that you get the best service.