The Clinical Neuroscience Centre

On Tuesday, I had my annual appointment at the Clinical Neuroscience Centre at 33 Queens Square, London.  This is a specialist centre, about a 100 yards down the road from the National Hospital for Neurology and Neurosurgery.

 

Clinical Neuroscience Centre

 

Back in 2009, when I first heard about the Arimoclomol drug trial, I asked my consultant to refer me, to see if I could be included.  I went along to the Muscle Clinic, which is held here, under Prof. Mike Hanna.  Some of you may have been lucky enough to have meet him, or know of him through his half and full marathon running fund raising exploits.

 

I actually saw a Dr. Matt Parton, one of the senior consultants in Prof. Hanna's team.  During our first meeting, he went over my full medical history, and then conducted the routine muscle tests, which I'm sure most of you will be familiar with, where they ask you to push or pull against them so they can gauge what strength you have in your muscles.

 

Dr. Matt Parton

 

I then discussed with him the possibility of me being included in the drugs trial.  I already knew that my medical history wasn't straight forward, and that the likelihood was that they were only going to be looking for patients with straight forward IBM to be included.  Therefore I wasn't surprised that he said he would not be putting me forward for the trial.

 

However, he than went on to question my diagnosis of IBM.  There are a few things about my condition which do not follow the 'normal ' pattern of IBM.  Firstly I was diagnosed at age 34.  The weakness in my muscles involves more of the proximal muscles, those near the trunk of the body, whereas normally you would expect more weakness in the distal muscles, those in the hands and feet.  I have had periods of progressive weakness but generally I remain reasonably stable.

 

I realise that we all present differently and that different people will have weakness in different areas of their bodies, at different ages, that impact on them in different ways.  I had always assumed that this would explain why some of what I had was different from other people.

 

We discussed my original muscle biopsies, which were used to confirm the diagnosis of IBM.  My first biopsy, for this diagnosis, was taken from my left triceps muscle, but the results were inconclusive.  Another biopsy was then taken from my right thigh, and this was studied by my consultant, Prof. C Denton, a neurologist, Prof. A Schapira, and Dame Prof. Carol Black, Medical Director at the Royal Free Hospital and later President of the Royal College of Physicians - 3 more high powered doctors I think you would struggle to find.  Based on their review of the muscle tissue, the diagnosis of IBM was confirmed.

 

Dr. Parton, asked if I would give consent for these tissue samples to be re-examined by a specialist diagnostic centre based in Newcastle.  Also he wanted to take some blood, so that this could be DNA tested, and some stored for any future testing, as he wanted to test the diagnosis.  He went on to say, that in his opinion, my condition was more likely to be a Myofibrillar Myopathy, part of a group of disorders called muscular dystrophy's that affect muscle function and cause weakness.

 

He said that this process would take a long time and might at the end of the day result in nothing new being confirmed.  He advised that if it was as he suspected, a Myofibrillar Myopathy, it would be one of the rarer and more difficult ones to confirm the diagnosis on, and that there are a number of these conditions where there is currently no clinical test to be able to confirm the diagnosis.

 

However in terms of my treatment and prognosis, nothing would really change.  As with IBM, there is no confirmed treatment for these conditions, and the long-term prognosis is that the patient will get progressively weaker.  He did not intend to change my current treatment, although depending on what was found, he might recommend some small changes, as my current drug regime seems to be working for me.

 

I gave my consent for him to pursue the tests and we agreed to see each other in 12 months.

 

I went away from this appointment, not surprised about the drugs trial, but a little disconcerted about the possibility that the original diagnosis might have been wrong.  I realised that in real terms nothing would change either in terms of treatment or the longer term outlook how the condition would progress, but for 9 years I had been told I had IBM.  I knew what that meant, and although it might not be what I wanted, I was comfortable with this diagnosis and condition.

 

In 2010, we meet again, but the muscle tissue sample had not been located.  Some DNA testing had been done on the blood samples but nothing had been confirmed.

 

In 2011, we meet again.  The muscle tissue sample had now gone to Newcastle, and was still being looked at.  The DNA testing on the blood was continuing, and a number of conditions had been eliminated.

 

In 2012, the results of the review of the muscle tissue were in.  Although the tissue samples showed markers consistent with IBM, they were not considered to be conclusive.  No other conditions could be diagnosed from these samples.  The only way forward from that side, would be if I consented to another muscle biopsy.  The problem with that, would be finding a muscle that was in good enough condition to get a reasonable sample from.  After discussion, we agreed that I did not have enough muscle to get a decent sample.

 

All the DNA testing had been completed on my blood samples, and had been unable to confirm any known condition, for which there is currently a test.  This therefore leaves us with conditions for which there is currently no test.  They have some of my blood in storage and as new DNA tests are developed they will continue to test.

 

So where does that leave me.  I have a confirmed diagnosis of IBM from 2000, through my team at the Royal Free Hospital, and another doctor who thinks this is wrong and suspects a diagnosis of Myofibrillar Myopathy, which he can't confirm due to the limitations of current diagnostic testing.

 

Dr. Parton is without doubt an expert in his field, Neurology, and I have no reason to think that he might not be right in what he is saying.  However, my original diagnosis was confirmed by 3 of the best and most knowledgeable doctors you could hope to find.

 

And actually, now I'm not to bothered.  Although initially I found it unsettling to have been told I have one thing, and then told it might be something else, it's not actually going to make any difference.  I haven't missed out on treatments that might have improved my physical condition, and the long term outlook hasn't changed.  What does it matter what I call it?  If you think doctors don't know about IBM, you try mentioning Myofibrillar Myopathy, and just watch the blank expressions.

 

So on Tuesday, I made my trip to London to meet Dr. Parton again.  This time he had a student doctor sat in with him, and Dr. Parton made good use of me as a teaching tool, to show the student about muscle weakness and how muscles waste with these conditions.  I often allow student doctors to talk TO or examine me, when I'm at various hospitals, as being able to see, examine and talk to a real patient must be the best way to learn, especially about something that's unusual.

 

I talked a bit about my recent trips to NHNN and the help that the physio's were giving me with standing.  The student seemed surprised that after 4 years in a wheelchair, I might still be able to stand, albeit with the assistance of a standing frame.  I said that I had always thought that I could stand but just needed someone to give me the opportunity, and that if I can do things now that might improve my muscles, this has to be of benefit to me longer term, in retaining my independence. 

 

Dr. Parton, said that it was one of the biggest mistakes made that if you have a progressive condition to think that the only thing that will happen is that your condition will decline.  That actually you can often make improvements, even if only in the short-term, which then mean, when the patient's muscles start to decline they are starting from a better position than if they had done nothing.

 

We went through the usual muscle tests, and then he went back through the results from the previous appointments to see how these compared.  Based on the results from the tests when I originally went in 2009, and those done on Tuesday, my muscle strength is pretty much unchanged.  This will be due to the regular physiotherapy I have at home, the physio input at NHNN, and to a small exercise regime I follow, where I do small exercises from my chair everyday.

 

I'll see Dr. Parton again in a years time.

 

The journey home was interesting as the engine on the hospital transport ambulance kept cutting out as we were approaching home.  At one point, about a mile from home, I thought that we had broken down completely, but the driver got us going again and dropped me off at about 7.30 pm.  However there was another patient still in the ambulance, who had to go about another 15 miles further on to get home, so I really hope he got home, in a reasonable time.