August 1998 Newsletter

 

Again our funds have been swollen by the generosity of members. New member Dr Griffith of East Sussex has given £200 to the Group. Even though the recent Meeting in Birmingham was heavily subsidised, our finances remain in good shape to the point where the Committee would be willing to consider ideas requiring capital expenditure. One of the ideas floated at the AGM was that the Group may be willing to assist (on a limited basis) with the purchase of mobility aids for members in difficult financial circumstances. We have not yet decidedany ground-rules for this facility if we should decide to go ahead with it - please let me have your views before we take any decisions!

Birmingham Meeting 11 July 1998

49 people attended the third annual meeting, once again held at the Disability Resource Centre in Birmingham. After a brief AGM, the Group listened to talks from Doctors Nick Wood and Evan Reid and physiotherapist Jodie Barber, as well as hearing about the Nottingham based Rehab Organisation from Peter Harrison.

There being no new nominations for the committee, the existing team were returned unopposed. The Secretary stated that he felt there was a genuine need for an injection of new blood (apologies for the medical metaphor) particularly in the writing and future enhancement of the Newsletter. Any volunteers would be most welcome, and if the absence of a word processor is holding back a budding Peregrine Worsthorne then perhaps some financial assistance could be forthcoming from Group funds.

Mike Fawcett reported that at the year end (31 May 1998) the Group's funds showed a credit of £1300. Discussion took place as to how some of this could be usefully spent for the benefit of Group members.

Despite the recent number of new joiners, the Secretary pointed out that some 30-40 members had not renewed their membership. This was not unusual, in that for several years the Group has carried a relatively constant percentage of passive members. However, this now represented a considerable cost to the Group, and whilst we are more than happy to waive the membership fees where circumstances dictate, we would like to see some kind of positive commitment to the Group. This could simply take the form of a phone-call or a brief note to the Secretary. It was agreed that if that small level of commitment was not forthcoming, then it would be taken as an indication that the person concerned no longer wished to be a part of the Group. Accordingly, a letter has been sent with this Newsletter to those whose membership is deemed to have lapsed, to advise them of this situation.

Mike Fawcett raised the hope that numbers were now high enough to justify the establishment of regional meetings. Anyone wishing to pursue this idea will have the full support of the committee.

The meeting discussed ways of raising the profile of the Group. The committee is aware that knowledge of the group's existence is 'patchy' within the medical profession, and that more could be done by more accurate targeting of key professionals.

Peter Harrison - Rehab Samples from the Ways and Means' Catalogue were on display throughout the day, and Peter was on hand to answer enquiries from the Group. Information on your nearest Disability Living Centre which offers impartial advice is available on 01 71 820 0567.

Dr Evan Reid - The Group was informed about the various mutations that can occur to genes. 3 forms of mutation have been identified:

  • Point mutation
  • Deletion Mutation
  • Correction Mutation

By use of analogy with everyday speech patterns, Dr Reid enlightened his audience as to how tiny errors in gene construction can have significant impact on the 'information' held within the gene...

Dr Reid reintroduced the Group to the 3 recognised inheritance patterns:

  • Autosomal Dominant - where one gene of the inherited pair is faulty and overrides, or dominates, the normal gene. 70-80% of families fall within this group, and there is a one in two chance of the condition being present in a child. Chromosomes 2,14 ,15 and at least one other are known to carry the gene which if faulty can cause FSP.
  • Recessive Inheritance - where a person receives two faulty recessive genes, one from each carrier-parent in order to develop the condition. There is a one-in-four chance of a child developing the condition whose parents both carry the defective recessive gene. Approximately 20-25% of FSP sufferers inherit the condition in this manner, and the associated gene has been found on Chromosome 8 and very recently on Chromosome 16 (Paraplegin).
  • X-Linked Inheritance. The faulty gene is located on the X Chromosome. Half of the male children are likely to be affected, and half of the female children will be carriers only. Only 1-2% of families have this variant.

Dr Reid stated that with approximately 3 million gene pairs in the human body, and perhaps 50-60 likely candidates as possible FSP sources, the process of analysis is lengthy. It takes in the region of three months to analyse one gene exhaustively. Nevertheless steady progress is being made to isolate the genes.

Dr Nick Wood - described the physiological background to the FSP condition. The audience were informed about the basic categories of FSP namely 'Pure' and 'Complicated', and the further subdivision according to Early or Late On-Set. In general terms Early (Type 1) on-set occurs before the age of 35, and Late (Type 2) on-set occurs after 35. However, Dr Wood emphasised that this is a general guideline and not a hard and fast rule. The complicated form of FSP recognises many and various additional complications ranging from chewing difficulties, to mild mental retardation to eyesight disorders.

Common to all FSP variants is the condition of spinal atrophy leading to some degree of spasticity. In itself, spasticity is a fairly common condition occurring also in victims of Cerebral Palsy, Multiple Sclerosis and of Strokes. Damage to the upper motor neurone can also give rise to spasticity.

The symptoms of spinal atrophy can themselves be subdivided according to whether they are 'positive' or 'negative':

  • Positive Symptoms - Spasticity, Clonus, Spasms and Contractures.
  • Negative Symptoms - Weakness, Fatigue, Loss of dexterity, Contractures, Dyssynergia.

Any effective management strategy of spasticity would involve the identification and minimisation of aggravating factors. Examples of such factors include:

  • Urinary tract infection
  • Bowel impaction
  • Skin irritation/ulceration
  • Anything that increases sensory stimuli.

Thereafter the aims of any treatment would be

  • improve function
  • Prevent complications e.g. muscle shortening/contractures, pressure sores.
  • Relieve pain

Dr Wood outlined the effects of certain drugs and treatments that have been prescribed for FSP treatment/control. These included Baclofen, Tizanidine, Diazepan, Dantrolene, Cannabinoids, Cloazepam, Threonine, Vigabatrin, lntrathecal Baclofen and Intramuscular Botulinum Toxin. Dr Wood emphasised that the benefits and effects were different for every patient, and an element of controlled trial would be necessary to find an effective regime.

Jodie Barber - Neurophysiotherapist.

Ms Barber described the common pattern of spasticity in FSP sufferers - that of FLEXION, where the abdominal muscles, the knees and the toes are all pulled inwards, and the body compensates by retraction of the shoulders, increasing lumbar lordosis, plus excessive flexion of the arms when stepping.

The main complications that can develop are:

  • shortening of the more affected muscle groups.
  • abnormal stresses on lower limb joints.
  • pain.

The aim of any physiotherapy treatment, therefore, should be:

  • maintain range of movement via specific stretches.
  • Improve co-ordination/re-educate normal movement
  • preserve independence.

Note: Strengthening exercises are not recommended.

The other main treatment that physiotherapists are involved with is splinting. This is done in order to maintain range of movement, and to biomechanically correct walking patterns. The Group was shown a typical AFO (ankle-foot orthosis), and the recommendation was offered that patients obtain made-to-measure' AFOs rather than off-the-shelf models.

Finally Ms Barber described access in physiotherapy services, and patient expectations. Even though most physios are unlikely to be familiar with FSP, they are familiar with the symptoms - spasticity - and can fully treat these. Furthermore your physio can contact the National Hospital and ask for specialist advice. For adults access to physios is likely to be for a limited duration only, with the burden of responsibility falling to the sufferer and his or her carers. However, if the symptoms change do seek a re-assessment via your GP or consultant.

Editor's Note. Whilst every effort was taken to accurately report the meeting, no responsibility can be accepted for any inaccuracies that may have slipped through the net...

Culprits' - by Audrey Town.

In November 1997 the Daily Telegraph published an article detailing how 200 South Americans suffering from hereditary deafness had traced their family histories back to 1780, back to a single common ancestor.

In January 1998 the Radio programme 'See, Hear' carried a similar item on a British lady (anyone with fuller details please contact A.T.) who had also traced her hereditary condition back to its origin.

In June, again in the Telegraph, there was a report that a group of scientists led by Dr Peter Rothwell, of the Radcliff Infirmary in Oxford, had published a paper arguing that people of Scottish ancestry - regardless of domicile - are more prone to suffer Multiple Sclerosis.

In all of these reports is the suggestion of a point of origin, a common source, and I wonder if we, the members of the FSP Group, could trace back our family trees to the point of 'family overlap'. In my own family I have identified 32 suspect surnames dating back to the Seventeenth Century, which I would like to correlate with other members' families.

There are, to my knowledge, four members of the Group working hard to trace their families back through the last century . If you are not one of them, can I persuade you to help us in our search for the culprits'? However little you know about your affected line I will be happy in help, either practically or with advice on methods and means of finding information. I do hope I shall be hearing from you.

Audrey Town; 33 New Lane, Skelmanthorpe, Huddersfield, W Yorks HD8 9EY.

Incontinence

Members may be interested to learn that the company DEPEND offers a comprehensive home delivery service. They have a range of pads, shields, undergarments, fitted briefs, catering for both men and women and supplied quickly and discretely in plain packages, VAT and post-free. There is an advisory service on 0800 521128 and order forms will be supplied free on request. A.T.

Alternative Medicine - Audrey Town

I wonder if anyone has experience in using Evening Primrose Oil as a treatment for FSP symptoms? When I was diagnosed as suffering from FSP, some 13 years ago, I was prescribed Baclofen. I am not keen on long term drug use, and as I gradually recovered some mobility, due in physiotherapy and perseverance, Baclofen was gradually withdrawn. At the time I was most anxious to do whatever I could to prevent deterioration. I remembered that a relative diagnosed as having MS had been advised to take Evening Primrose Oil. Consequently these became part of my daily diet. I mentioned this to my GP who was non-committal.

I took the capsules for about 10 years, and it was not until, following personal stress, I stopped taking Evening Primrose that I recognised the beneficial effects I had enjoyed whilst taking the capsules. Following withdrawal of the capsules I suffered rapid deterioration in my walking. I thought I noticed a contraction of the thigh muscle in my right leg - my weaker leg. I became very anxious as this is what had caused my loss of mobility in the first instance. Foolishly, or otherwise, I did not discuss the problem with my GP. I wondered whether the deterioration was the result of giving up Evening Primrose. I went out and bought some capsules. Some three months later I am moving my right leg rather more easily. the pain has reduced although I still have some discomfort. I understand that there is a delay in any reaction by our systems if we take medications of this type. Has this been a coincidence of events, or is Evening Primrose really beneficial? If anyone has any experience of using Evening Primrose to help alleviate the symptoms of FSP, I would very much like to hear from them.
Audrey Town.

The Genetic Interest Group is holding its annual general meeting in London on 1st October. Also there will be a series of presentations on genetic issues. Anyone interested in attending please contact the Secretary. Also,

Contact-a-Family is holding its national conference in Peterborough on Saturday 3rd October. This year the conference theme is creating a better life for disabled children, and FSP Group members can gain free admission. More details from the secretary.

Council Tax - How to Pay Less

There are 3 ways for carers and disabled people to pay less:

  • The Disability Reduction Scheme
  • The Discount Scheme
  • The Council Tax Benefit Scheme

It is possible to qualify for more than one type.

Disability Reduction Scheme. You can qualify for this if you or any other resident at your address is substantially or permanently disabIed: this can be an adult or a child of any age, whether or not they are related to you. Other conditions relating to your accommodation also apply. The reduction available is equal to a reduction to the Council Tax band below the existing band. The person liable to pay council tax has to make the application - usually on a standard form. You may have to make a new application each financial year. The reduction can be back-dated to the beginning of the financial year.

The Discount Scheme. Council Tax bills are based on two adults living at one address. Certain people are 'not counted' when councils work out CT bills. Those not counted include carers. To qualify as a carer you must look after someone for at least 35 hours per week. There are also further restrictive criteria which must be met. If only one person is counted as living at a given address, then that person can qualify for a 25% reduction of CT.

Council Tax Benefit Scheme. If you claim Income Support or Income-based Jobseeker's Allowance through the Benefits Agency, you can claim Council Tax Benefit at the same time.

For further information on any these schemes contact your local Council Tax Office.

Stop Press!

I have been contacted by Doctor Andrew Crosby of St George's Hospital Medical School in London. He and a team of post-graduates are commencing research into FSP, to do with gene identification. The good doctor wishes to contact members of the group with a request that they participate in his research. He stresses that the participation is 'non-invasive' and can be carried out in the privacy of one's own home. Apparently, what is involved is the taking of an oral swab, and posting said sample to the doctor. Easy.

I have agreed to release to the doctor the names and addresses of our members unless you wish to opt out beforehand. If you wish to opt out would you phone or write to me as soon possible, and your name will not then go forward. Please do this before 14 August.

Once you are contacted, of course, you may then choose not to participate in the research. It will be entirely your decision.