AGM2013: Looking After Yourself (Liz Redmond)

Here is the first of four posts covering the presentations given at the UK HSP Support Group AGM on 15th June.

Liz Redmond is a neurogenetics nurse at the National Hospital and gave the first presentation of the day titled  Looking After Yourself. Her presentation discussed trying to maintain a positive mental wellbeing.

Changes in mood can end up in a vicious circle. A low mood can give rise to poor motivation. Poor motivation can give rise to low self esteem. Low self esteem can give rise to low mood. 80% of people with chronic disease suffer from low mood at some point. Symptoms of low mood can include fatigue (being tired, lack of energy etc.) and anhedonia (a lack of interest in something you would normally be interested in). Feeling low for a few days may be OK but Liz advised that if you're finding yourself low for a period of weeks then its time to seek help, your GP or a specialist.

To look after your mental health you need to be mentally active. Things which you can do include:

• Make an effort to plan your time
• Plan a treat into your day
• Make time to spend with friends/family
• Recognise situations that upset you (and have strategies to deal with these).

One technique which you can use is CBT (cognitive behavioural therapy) which helps with identifying actions/strategies for dealing with these situations which upset you. Essentially it seeks to identify what it is that upsets you, to then look at that issue from other alternatives, and then to prepare appropriate responses to help you regain control of the situation.

Liz mentioned some web-based CBT software

Beating the Blues: http://www.beatingtheblues.co.uk/

Mood Gym: https://moodgym.anu.edu.au/welcome

There are also other ways which you can raise your mood: 

Exercise - Exercise increases the levels of serotonin in the body. Undertaking exercise gives you time to monitor your thoughts, can help you relax and be part of a daily structure. For those with HSP stretching is a good exercise to try, and Liz suggested focussing on the muscles that you are using in stretches.

Positive Role Models - Thinking about someone who inspires you (whether famous or not) can give you an alternative viewpoint. You could consider what you can learn from them, how do you think they would behave in the situation, how could you do things differently to be more like them (etc.)

Social Life - Having a social life is very important. You should make time to spend with friends. People with low mood tend to reduce their social circle. If you end up like this for a while then your friends get used to you not being around and it is harder to get back to where you were. Liz advised to fight hard against this and make time. It is important to have friends around you. One step further would be to make new friends or try a new hobby.

Setting Goals - setting yourself a goal can be good, but they must be "Smart". I'll use weight loss as an example:

• Specific - i.e. "I will lose weight" rather than "I will be more healthy"
• Measurable - i.e. "I will lose 1 stone" rather than "I will lose some weight"
• Attainable - this is about setting a realistic target (which in this example would depend how overweight you were to start with)
• Relevant - make sure the goal you set is worthwhile
• Time-bound - You to set a realistic timeframe over which you plan to do this.

You can read up on smart objectives elsewhere (e.g. http://en.wikipedia.org/wiki/SMART_criteria) If your target is to, for example, lose 5 stone in weight then it would probably be better to set yourself a separate goal for each stone of weight, and there is nothing wrong at all with reviewing and adjusting your goal as you progress. (non UK readers - 1 stone = 14lb = 6.35kg)

Complimentary medicine - massage, aromatherapy, acupuncture, pressure point therapy (etc.) can all make you feel better about yourself, and for those of us with HSP there may also be some muscle relief as well.

Liz's presentation concluded with an overview of fatigue - factors which can affect fatigue include: changes in sleep patterns, medication, mood, excercise. If you find that you suffer from fatigue then it becomes important to plan and to conserve energy - so plan to have a rest if you need to, prioritise your activities accordingly, organise your work/home so that it is easier to do things and check your posture.

Those with HSP could try looking at the expert patient programme: http://www.expertpatients.co.uk/ which provides tools and techniques to help people manage long term health conditions.

The one line which I took away as being most useful was Liz's comment when talking about social life that the first four minutes of any interaction are the most important. These first four minutes set the mood, so people should make an effort to be really positive and lift the mood. After four minutes the agendas of the other people will kick in and the mood has been set. If people find this hard then they should take a few moments before entering a situation to prepare themselves. This applies to home, work, social activities, meetings (etc.)

I also observed doing exercise and stretches whilst concentrating on the muscles which are being used is exactly what we do at Pilates. I've not had a chance to look at any of the CBT software or the expert patient programme yet. (and therein lies potential for some future posts!)

Low mood is effectively another word for depression, and I've previously blogged that many people with HSP have mild depression. http://hspjourney.blogspot.co.uk/2011/09/depression.html  

UK HSP Support group 2013 AGM

Yesterday I went to the AGM of the UK HSP support group in Warwickshire. After the AGM there were 4 presentations by different specialists, and I'll write separate posts about those another day. This post is about the day and my observations.

I found the day very interesting and enjoyable. It was good to meet group members and chat about the various issues coming up from the presentations during lunch and coffee breaks. From an observational point of view whilst there was a great spread in the amount that the condition affects the people there (and a corresponding array of walking aids and wheelchairs) everyone seemed friendly, open and happy to talk.

The AGM itself was brief. One observation was that different members had been asking for meetings in their local area, and the comment was made that two people meeting in the pub would be a meeting, and that people shouldn't be afraid of attempting to organise a meeting themselves. The group would be able to provide support. This made me think that there is no reason why this couldn't happen anywhere in the world. Whilst part of the meeting is about the presentations another part is about networking (talking to people) and I think that the balance between these was about right.

In addition to the presentations Physio Function (http://www.physiofunction.co.uk/default.asp) were there with a number of different FES systems which people could have a go with.

Conclusions: its meetings like this which demonstrate the real benefit of the support group. Attendees get first hand direct relevant information from professionals who work with HSP and the chance to meet and socialise with others who are in the same boat.

Facebook groups

Just a quick post today. I've dropped links to this blog on the three Facebook HSP groups that I joined on rare disease day and the HSP community which found this blog about a year ago. Spreading the word.

Symptoms Update - Stress & Tiredness

This last week has been quite hard. I've been busy at work and our youngest son has been ill. There have been a few interrupted nights and its been a challenge to "switch off" from work in the evening. My observation is that I think I've noticed my legs being stiffer this week, and I wonder if this is a result of either effect. A quick trawl of the papers abstracts shows that sleep and tress are not a reported phenomena (although there may be some better medical terms for either which I havent looked for)

Regular readers may recall that I've associated showing symptoms when being tired previously over the last couple of years, so maybe this is just another in a long chain of association, and another reminder of whats coming. I've not made the association with my stress levels before (and hopefully I wont have the opportunity  to do so again). I must remember to try to find time to rest and relax.

I had a long train journey for work in the week and found the time to read the latest Newslink from the HSP Support Group. I like the mix of articles presented and reading both people stories and the advice and comments on different techniques and technologies which can help. I spotted that many of the exercises at the end are similar to some which we do in Pilates, which is good to find out. Perhaps I should try doing some of these other evenings in the week.
 

HSP Research - Further Papers

This evening I have re-searched the link to see what else has been published since my previous update on papers in August 2012. Another 63 papers have been added since then, all published in 2012 or 2013.

Actually, the statistics look quite similar to those from last year. The search shows that there's been about 70 papers per year published each year since 2006, and the authors who were top of the table in terms of published papers have all had at least one paper published so far in 2013. The journals with the most papers published also have, on the whole, had an HSP paper published in 2013.

There are some 250 new researchers working in some aspect of or relevant to HSP since my last data update - by which I mean author names which had not previously appeared in any of the original data sets.

I'll look at the details of these papers and read their abstracts another day.

The link to get the search is here: http://www.ncbi.nlm.nih.gov/pubmed?term=((hereditary%20OR%20familial)%20AND%20%22spastic%20paraplegia%22)%20or%20%22strumpell%20lorrain%22.

Babinski’s sign - The 'tickle' test.

As part of my trawl of the symptoms of HSP, today I'm exploring Babinski's Sign, which seems also to be called Babinski's Reflex.

1) Babinski reflex is one of the reflexes that occurs in infants. It occurs after the sole of the foot has been firmly stroked. The big toe then moves upward or toward the top surface of the foot. The other toes fan out. This reflex is normal in children up to 2 years old. It disappears as the child gets older. It may disappear as early as 12 months. From: http://www.nlm.nih.gov/medlineplus/ency/article/003294.htm

2) The Babinski sign is an important neurologic examination based upon what the big toe does when the sole of the foot is stimulated. The Babinski sign is obtained by stimulating the external portion (the outside) of the sole. The examiner begins the stimulation back at the heel and goes forward to the base of the toes. A useful way to elicit the response that requires no special equipment is with firm pressure from the examiner's thumb. Just stroke the sole firmly with the thumb from back to front along the outside edge.

Too vigorous stimulation may cause withdrawal of the foot or toe, which can be mistaken as a Babinski sign. Most newborn babies are not neurologically mature so they normally show a Babinski sign. Upon stimulation of the sole, they extend the great toe . Many young infants do this, too, and it is perfectly normal. However, in time during infancy the Babinski response vanishes and, under normal circumstances, should never return.

A Babinski sign in an older child or adult is abnormal. It is a sign of a problem in the central nervous system (CNS), most likely in a part of the CNS called the pyramidal tract. From http://answers.yahoo.com/question/index?qid=20090509083919AAiuHmw

The next part of my trawl is to see what pops up from the HSP research papers. There are various papers from 1989 and more recently which note that Babinski's Sign is present in a number of cases of HSP (and similar conditions). Of note, there's a paper from 2000 which described a new locus for HSP in a french family, and compared these patients with familys with SPG4 noted that there were significantly more patients without Babinskis signs, 

This suggests to me that Babinskis sign may not be present in everyone with HSP.  And, therefore, I shouldn't start making bold assertions after tickling the feet of my family....

Of note, when I was having my blood test to determine if I had HSP back in early 2009, one of the things the people at Genetics said was that they might be able to tell if I had HSP by tickling my feet. So, I'm quite pleased to have found out what that means.

The 2000 paper is: A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34. Fontaine B, Davoine CS, Dürr A, Paternotte C, Feki I, Weissenbach J, Hazan J, Brice A. Am J Hum Genet. 2000 Feb;66(2):702-7. http://www.ncbi.nlm.nih.gov/pubmed/10677329

Symptoms Update - Stiffness

A few more months have passed since I last did a symptoms update. The 'problem' with a condition that acts slowly is trying to identify when something has changed. This time its more of a gut feel than a specific observation. I think it's more difficult to stand up, and I think its more difficult to stand with my legs straight for a long time.

This is a feeling over several weeks, so I dont think there are any particular circumstances which would give rise to this. My standing-with-legs-straight comment comes from one of my few multi-tasks - when I give our nearly-one-year-old his bedtime milk I stand with my legs straight, body bent over, and then move my hips to get a hamstring stretch (multi-task is stretching and feeding at same time). This has become more uncomfortable in the last week or two, and I've needed to stop the stretch for a moment and then come back to it, whereas a month or two ago I was able to hold the stretch for a whole bottle of milk.

Introduction to cell biology

When I met Dr Reid at Addenbrookes the other week he started to explain cell biology, and made me realise there's a large gap in my knowledge. At one level I know that I have a mutation in one of my genes and at the opposite level I know the end result of HSP. There's a huge gap in between.

My first thing to understand is the general function of a gene. In simple terms each gene carries the code to make a protein, and that protein has a particular job to do. When there is a mutation in a gene this can prevent the protein working properly. So, the importance of a mutation depends on how critical that protein is in keeping your body working.

I'll explore the protein side of things another day, and focus this time on how a mutation affects the manufacture of the protein.

Back a few months ago I found that my mutation was on Intron 12 of the Spast gene. Genes are made up of sequential blocks called Introns and Exons. There are two steps in making a protein - Transcription and Translation.

The transcription step the information in the gene is transferred into a separate molecule. The information that is needed to make the protein is from the Exon, so the transcription process involves joining all the Exon parts together and discarding the Intron parts. I'll explore the function of Introns another day. This function is called RNA splicing.

The translation step involves a Ribosome which reads the Exon sequence and uses the information to build the protein one amino acid at a time (amino acids are the building blocks of proteins). This reading and building process continues until a 'stop' instruction is reached and the protein is complete.

When there is a mutation in a gene the problem is that the Introns and Exons cannot be identified correctly, and the spliced set of Exons may contain some sections of Intron, have some parts of Exons missing or some other jumbled information. This means that the Ribosome cannot read the set of instructions correctly, and the protein is not made correctly. The body is good at checking what is made so an erroneous protein may not be made at all. If the protein is made then it may not function properly (which may mean that it works better or worse).  

I accept that this post is a bit heavy on the technical info, and I'll try and visit each of these steps again and provide some context.

Various links:
http://ghr.nlm.nih.gov/handbook/howgeneswork/makingprotein
http://en.wikipedia.org/wiki/Introduction_to_genetics
http://en.wikipedia.org/wiki/Proteins#Cellular_functions
http://en.wikipedia.org/wiki/Intron
http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/mutationscausedisease

Rare Disease Day

Well, today is rare disease day (http://www.rarediseaseday.org/), and I thought it was time to move a bit further out from the shadows and begin to link up my various on-line presences. Today I've:

• added my name to my blogger profile here, 
• removed the word "possible" from the blog header,
• joined HSP groups on facebook,
• added "herediary spastic paraplegia" to my twitter bio,
• added links here from my facebook and twitter pages,
• written an HSP post on my internal work blog.

So, social media, tick! On this front it is my intention to tweet about HSP things that occur to me. I realise that twitter may start to get a bit messy as I mix work and HSP things, but then that's the point of hashtags. I'm going to use #hspfsp for the condition and #hspjourney for this blog. @munkee74.

Yesterday I had the opportunity to meet Dr Evan Reid at Addenbrookes, Cambridge. My mum had an appointment with him and I went along with her. I learnt some interesting stuff there, and that will certainly form a post (or two) in the near future.

It comes as no surprise that the general advice is for people to stay fit, healthy and active. He noted that there are Paralympians who live in wheelchairs who are at the peak of their fitness. This observation reminded me of the recent HSP newslink front page article about Rebecca Hart, a Paralympian Equestrian from the USA. http://www.hspgroup.org/ 

1st March edit - I also decided at the end of the day to add a link and post on LinkedIn, completing my current set of social media profiles. Its been a very interesting 24 hours looking at my visitor statistics since all this posting/linking activity.

4th March footnote - What a busy few days! I'd like to thank people for their messages, likes and re-tweets, and for taking the time to read this blog.

HSP Research - Trawl Update

Time ticks by.

I've been reading abstracts and trying to categorise them. Today marks the completion of the 2012 papers retrieved so far (41) and the move into 2011 (5 papers), and I've also started working backwards, having done all papers with abstracts from 1976 and before (10 papers - earliest abstract from 1953).

The four papers which I've so far identified as the most interesting (yes, I know that's very subjective) are:


1) Transcriptional and post-transcriptional regulation of SPAST, the gene most frequently mutated in hereditary spastic paraplegia. http://www.ncbi.nlm.nih.gov/pubmed/?term=22574173 Henson BJ, Zhu W, Hardaway K, Wetzel JL, Stefan M, Albers KM, Nicholls RD.

This paper identified the regulatory mechanisms controlling the expression of SPAST (therefore SPG4), providing new functional targets for mutation screening and therapeutic targeting in HSP.

2)  White and grey matter abnormalities in patients with SPG11 mutations. http://www.ncbi.nlm.nih.gov/pubmed/?term=22696581 França MC Jr, Yasuda CL, Pereira FR, D'Abreu A, Lopes-Ramos CM, Rosa MV, Cendes F, Lopes-Cendes I.

This paper investigated the extent of brain damage in patients with SPG11

3) Disease severity affects quality of life of hereditary spastic paraplegia patients. http://www.ncbi.nlm.nih.gov/pubmed/?term=21631647 Klimpe S, Schüle R, Kassubek J, Otto S, Kohl Z, Klebe S, Klopstock T, Ratzka S, Karle K, Schöls L.

This paper correlated Health-Related Quality of Life (HRQoL) with severity of HSP, concluding that quality of life deteriorates as symptoms progress. They recomended that HRQoL should be considered in trials.

4) Bladder dysfunction in hereditary spastic paraplegia: a clinical and urodynamic evaluation. http://www.ncbi.nlm.nih.gov/pubmed/?term=22289900 Fourtassi M, Jacquin-Courtois S, Scheiber-Nogueira MC, Hajjioui A, Luaute J, Charvier K, Maucort-Boulch D, Rode G.


This paper quantifies bladder problems for people with HSP.