Saturday, July 25, 2015

A synapse of neurologists

Last March I came on board with another neurologist, one new to me, my fifth since 2000: Ray Garrick, from St Vincent's Clinic in Paddington; Stephen Reddel, from the Brain & Mind Research Institute in Camperdown; Michael Halmagyi, from the Balance Clinc in Royal Prince Alfred Hispital in Camperdown; Simom Lewis, also from the BMRI in Camperdown; and, John Parratt, from the Neurology Department at Royal North Shore Public Hospital. They each made progress of a sort, along a pathway that interested them. Clinical medicine is not clear-cut in many cases.

It is complex; my symptoms are complex. They fit nothing in particular, yet everything in general, viz Multiple Sclerosis, Parkinson;s Disease, CANVAS, SCA3. Halmagyi was working on the premise that the syndrome he labelled C A N V A S (cerebral ataxia, neuropathy, vestibular arreflexia syndrome), fitted me to a glove. His most recent paper gathers together about 80 sujects with the full range of symptoms. I have not read this paper yet, nor am I one of the participants. So, what are my symptoms? In no particular order:
  • peripheral neuropathy
  • missing VVOR
  • loss of balance
  • dystonia of neck and eyelids
  • diplopia
  • cramping of arms, and legs
  • weariness
  • MGUS
  • persistent dry cough, and
  • oscillopsia.
That should do for starters.

The very first time I can remember a symptom was leaning on a fence at the old West Pymble Swimming pool watching my daughter jump in the deep end of the 50m pool, while my son was standing chest-deep in the learners' pool. They would have been about 6 and 4, which would make the year 1985, and make me 37 years of age. This was 30 years ago. I felt a tight band of elastic around both my ankles, which I now know was the start of the peripheral neuropathy. The next symptom to come along was the cough. It would invariably engulf me at the dinner table, and I was told not to try to talk while I ate. A very effective way of muzzling me. My children maintain that it was definitional: they knew where I was at any given time, because they could hear me.

The worst symptom or many years was the peripheral neuropathy, which is a bit of a misnomer, as there is nothing peripheral about it at all. It is everywhere. Through my trunk. Up and down both arms and legs. In my scalp. Across my eyelids. Aound my lips. Everywhere. However, it does not bother me as much. Fifteen years ago, when I took my shoes off after a day at work, the pins and needles would explode out of my feet, in masses of painb. Probably the same thing happens now, just that I no longer able to feel it. My worst symptom now, would have to be my eyes. They get very tired, very dry. I have to blink excessively, and rib my eyelids.

So, what did I learn today, and where do I go next.

Parratt's team had collected together all my files from previous neurologists. So, now we have base data. There are a lot of nerve studies in this documentation. There is an MRI which is now just over two years old. In March, Parratt opined that my symptoms indicated an SCA (spinocerebellar ataxia), without specifying which of the 31 (and counting) was the most likely. He indicated that he could offer me a genetic test to narrow it down. Today, he was not so sure it is an SCA. He has been convinced that the CANVAS testing/results are the way to go. So, he is going to come at the issue from a number of different angles.

The SCA pathway, for mine, is a good one to downplay, or eliminate. SCAs, nearly all of them, are dominantly inherited, meaning there is a 50% chance that offspring will inherit the problem. A good one to give the flick, but not unrealistically. However, the SCAs have been sujected to genetic testing being developed for them. So, Parratt needs to know if it is contemplated that a genetic test could be developed for CANVAS. All these neurologists know each other, and most of them work in and around labs at The University Of Sydney.

Some bloods were taken today to send to Parratt's lab over at USYD, to test for antibodies for autoimmune diseases. This will then be studied in conjunct with the data collected over 30 years.

Every other Wednesday the neurology department at the hospital has a presentation. Parratt is hoping his team can work my history into a presentation as Professor Carolyn Sue will be present 2at the next one and she is an authority on mitochondrial disease, which my symtoms may also describe.

Then another doctor was brought in who specialises in dystonia of the neck. Consensus all round that I exhibit locked/cramped neck muscles (hence the coughing) and affected eyelids, hence the blinking and the inability to keep my eyelids open. However, this chap reckons he can assist me by way of two Botulinum toxin injections, one in the neck and one in the forehead. Each injection has a cycle which takes 12 months. My hackles went up immediatelty, but I am keeping an open mind ... until I understand the details.

There is also another conference, this time at the Park Hyatt, down at The Rocks, in the second half of August, when a visiting specialist from the UK will give the Keynote on movement disorders". Parratt intends to work up a video of my symptoms, and a PP of my tests, to present.

So, let's see if any of this eventuates.

Note: The images were all taken around the grounds of Royal North Shore Public Hospital, in St Leonards. I went into the chapel after my four hour session, for some peace and quiet. Only for a Mass to start within minutes. Both my children were born at this hospital, but I think that little maternity cottage, alack, is no more.



Joan Elizabeth said...

This is as always a fascinating journey to follow. You certainly have a bevy of people interested. The cough thing amused me. Hubby also has a cough, a side effect of medication. He changed his pills a while ago and it reduced but is still there. I too know where he is from his cough. If I am waiting for him somewhere his cough announces his presence way before he is seen.

AsAeenBySusan said...

I enjoy your writing as much as your photos, but I had to go back and look at them again because your narrative had me so engrossed. Thank you for sharing both.

diane b said...

I think we can safely sat that you are one complicated woman. but on a serious side it must be frustrating and worrying not knowing what is wrong and where it will all lead. It is good that the specialists are interested and are working on it. I hope you can struggle on for a while yet. The eye thingy must be awful.

Rosemary said...

Re the Botox injections: I've had these for muscle tension migraines and have had very good results. It's an odd treatment but it seems to be quite effective.

MargaretP said...

Good to see you back again, I check every week to see if you are posting.
Fingers crossed that all the testing will come up with some sensible answers and worthwhile treatment.

Julie said...

I did not want to post here after my irst session wih this new neurologist, because of the possibility of 50% transmission to my descendents. I wanted that issue confirmed/denied first.