Invitation to participate
Hello, my name is Adam Lawrence, I am 39, and live in Bristol, England. I have HSP (SPG4) and I am yet to show any significant symptoms. I’m writing to let people know about my HSP blog and to invite everyone to take the survey there.
Blog & Survey
I regularly blog about my experiences with HSP: http://hspjourney.blogspot.co.uk/ and I’m now starting a new phase in my blog where I am undertaking a survey for people with HSP. I’ll report those results in the new year. If this is successful (which it appears to be so far) then my plan is to undertake a different survey each autumn (Spring in Australia).
I would be very pleased if people wanted to spend a few minutes answering my questions. The survey is here: http://www.surveygizmo.com/s3/1360676/HSP-Symptoms-and-Mis-diagnoses.
Since my mum’s similar diagnosis when I was at school, I have known that there has always been a chance that I had inherited HSP. Up until 2008 I didn’t feel the need to find out, knowing that the longer I went without showing any symptoms, the more likely it was that I had not inherited the condition.
As a boy I went to Scouts and enjoyed walking in the hills, particularly the Lake District, and cycling has always been one of my regular forms of exercise, enjoyable as well. I took the opportunity to enjoy walking pretty much every year, most frequently to the Lake District, between about 1989 and 2003. I used to cycle to school and still cycle to work, and I’ve done the London to Brighton ride a few times. I got married in 2007, and we found out in the summer of 2008 that we were expecting a baby.
Although I had been content with my own position, my wife and I decided to find out if I had inherited HSP to know if there was a chance that our child could have it. The confirmed diagnosis marked the real start of my journey to HSP, as that time my knowledge was principally: HSP is not a common condition, that the physical changes are slow and that there are no known cures. I needed to know more, and I started doing some more reading around, primarily on the internet.
After a while I realised that I had forgotten where I had read some things, and I also knew that I would forget some detail of the physical changes that I would be going through, so I thought that I should keep a diary as an aide memoir for myself. With most of the information being online, I decided to keep my diary on the computer. At that time there was lots of hype about blogs, so I decided to make my diary a blog, starting in June 2010. You can read this at hspjourney.blogspot.co.uk/.
I set out with the objective of making two entries each month, which I’ve managed in all but one month so far. I’m noting down my symptoms and my thoughts about them as they progress, various information that I find, with links, and various observations that I make. I realise that I am probably not the only person trying to find out this information, and perhaps my diary would be of interest or of use to others as well. I would welcome any feedback that anyone has to make about my blog. You can post comments on the blog, drop me an e-mail ([email protected]) or find a link to my blog on the HSP community on http://www.rareconnect.org/en/community/hereditary-spastic-paraplegia.
Information & Research
As a taster of the information side of things, at the moment, I’m trying to get my head round the various HSP research that’s been published. After I posted a similar blog link on rareconnect I had a link to the PubMed website which indexes medical journals. I initially downloaded data in April 2012, and have improved my search a couple of times since then. I currently find 1293 different HSP related research papers from 1946 to 2013, and over 4400 different researchers have contributed to these papers. I’m exploring this data at the moment, but the data highlights towards the end of 2012 were:
The number of papers per year has grown over time, and has there been about 70 papers per year since 2006. The journals with the most papers published are; Neurology (66 papers), Journal of Neurology, Neurosurgery, and Psychiatry (47 papers), Journal of the Neurological Sciences (36 papers), neurogenetics (34 papers), American Journal of Human Genetics (33 papers) and Archives of Neurology (30 papers).
The most published researchers are: Alexis Brice MD, Pitié-Salpêtrière University Hospital, Paris (47 papers), Dr. Alexandra Dürr, Hopital de la Salpetriere, Paris (47 papers), Prof. Giovanni Stevanin, Ecole Pratique des Hautes Etudes, Paris (38 papers), John Fink MD, University of Michigan, Ann Arbor (29 papers), Dr Evan Reid, Cambridge Institute for Medical Research (27 papers). This is my most recent line of investigation, and apologies if I’ve not lifted the correct (or most up to date) details of these researchers from the internet. Interestingly the database makes a point of separately distinguishing the first name for papers. John Fink scores highest, being the ‘first name’ on 13 of those 29 papers.
To supplement this, there’s a handy summary of HSP research over the years on the SP Foundation website, written April 2012 – http://www.sp-foundation.org/content/articles/State-of-HSP-Research.pdf, which I’ve also detailed in a post on my blog.