I am pleased to be able to report that over the past year, we have continued to be contacted by newly diagnosed people with FSH. It has always been our aim to offer support especially at the diagnosis stage when people do not know which way to turn. In case you are unaware of the procedure, I will receive the call take down details, send out an information pack, Martin will then follow up from the initial call and answer any questions. If the person gives their consent we will then try and put them in touch with a member in their locality, to enable them to offer support, and possibly meet up. It is vitally important that we are able to educate GPs, Hospitals, Social Workers, Education Authorities and anyone else that may be involved as there is still ignorance about FSH.

We have a large stock of our information leaflets and are happy to give out as many as required. We are registered with a large number of organisations and are constantly receiving requests for information.

The website continues to attract visitors, as does the message board.

I would welcome any suggestions for any improvements you, our members would like to see take place. One idea that has been put forward is that we hold our annual meetings in the spring instead of autumn, I will endeavour to arrange this.

I personally would like to see more of our members forming small local groups to enable them to exchange ideas and be able to help one another.

I am delighted to report that we have received over £1600 in donations over the last year.

Finally, I hope you like the new format and layout of the Newsletter; please keep sending us your articles and stories as without them there is no Newsletter to publish.

Lorraine Jonas

The last year has seen our membership grow and has now reached almost 300. I try to phone all new members to see that they have received the welcome pack and ask if they have any queries. I find these talks useful as I usually get an idea of specific problems that they have. One of the most common problems seems to be that there is a lack of understanding by some of the medical professionals. Ancillary services such as those provided by Occupational- and Physio-therapists vary in the degree of help provided.

Provision of wheelchairs is simple and straightforward in Scotland but not in England although we all pay the same National Insurance. The cost of equipment for the disabled (and for renewable items like wheelchair batteries) is another area that I hope can be raised with the Government.

I'm sorry that there hasn't been a newsletter for over a year but the editor is always short of articles to make up an economic size for a publication. Please write something and share your achievements and frustrations in living with FSH. A paragraph, or a page even, will always be welcome, please send your contributions to Lorraine Jonas.

A full report of the 2002 conference is included in this newsletter together with details of an exercise program written and recommended by a physiotherapist, Jane Freebody, from the Oxford Muscle and Nerve Clinic.

Our past chairman, Gordon Nutter, was unable to attend the conference but I spoke to him recently and he sends his best wishes to all.

Three of the four talks at the conference this year were on Alternative and Complementary treatments. I have since done some research on this area and hope that the background information following this will be useful if you wish to look further into one or more of these treatment methods. Please always ensure that you are treated by someone with recognized, qualifications in their specialty. I was cheered to note in section 2 (below) that patient support groups are now regarded as part of mainstream therapy.

Best wishes to all members and their families from Martin and Joanna Fielden.

Complementary and alternative medicine, as defined by the US National Centre for Complementary and Alternative Medicine (NCCAM), is a group of diverse medical and health care systems, practices, and products that are not presently considered to be part of conventional medicine. While some scientific evidence exists regarding some CAM therapies, for most there are key questions that are yet to be answered through well-designed scientific studies--questions such as whether they are safe and whether they work for the diseases or medical conditions for which they are used.

The list of what is considered to be CAM changes continually, as those therapies that are proven to be safe and effective become adopted into conventional health care and as new approaches to health care emerge.

Are complementary medicine and alternative medicine different from each other?
Yes, they are different.

Complementary medicine is used together with conventional medicine. An example of a complementary therapy is using aromatherapy to help lessen a patient's discomfort following surgery.

Alternative medicine is used in place of conventional medicine. An example of an alternative therapy is using a special diet to treat cancer instead of undergoing surgery, radiation, or chemotherapy that has been recommended by a conventional doctor.

What is integrative medicine? Integrative medicine, as defined by NCCAM, combines mainstream medical therapies and CAM therapies for which there is some high-quality scientific evidence of safety and effectiveness.

What are the major types of complementary and alternative medicine? NCCAM classifies CAM therapies into five categories:

1. Alternative Medical Systems Alternative medical systems are built upon complete systems of theory and practice. Often, these systems have evolved apart from and earlier than the conventional medical approach used in the West. Examples of alternative medical systems that have developed in Western cultures include homeopathic medicine and naturopathic medicine. Examples of systems that have developed in non-Western cultures include traditional Chinese medicine and Ayurveda.

2. Mind-Body Interventions Mind-body medicine uses a variety of techniques designed to enhance the mind's capacity to affect bodily function and symptoms. Some techniques that were considered CAM in the past have become mainstream (for example, patient support groups and cognitive-behavioral therapy). Other mind-body techniques are still considered CAM, including meditation, prayer, mental healing, and therapies that use creative outlets such as art, music, or dance.

3. Biologically Based Therapies Biologically based therapies in CAM use substances found in nature, such as herbs, foods, and vitamins. Some examples include dietary supplements, herbal products, and the use of other so-called "natural" but as yet scientifically unproven therapies (for example, using shark cartilage to treat cancer).

4. Manipulative and Body-Based Methods Manipulative and body-based methods in CAM are based on manipulation and/or movement of one or more parts of the body. Some examples include chiropractic or osteopathic manipulation, and massage.

5. Energy Therapies Energy therapies involve the use of energy fields. They are of two types: Biofield therapies are intended to affect energy fields that purportedly surround and penetrate the human body. The existence of such fields has not yet been scientifically proven. Some forms of energy therapy manipulate biofields by applying pressure and/or manipulating the body by placing the hands in, or through, these fields. Examples include qi gong, Reiki, and Therapeutic Touch.

Bioelectromagnetic-based therapies involve the unconventional use of electromagnetic fields, such as pulsed fields, magnetic fields, or alternating current or direct current fields.

Dictionary of Terms:

Aromatherapy involves the use of essential oils (extracts or essences) from flowers, herbs, and trees to promote health and well-being.

Ayurveda is a CAM alternative medical system that has been practiced primarily in the Indian subcontinent for 5,000 years. Ayurveda includes diet and herbal remedies and emphasizes the use of body, mind, and spirit in disease prevention and treatment.

Chiropractic is a CAM alternative medical system. It focuses on the relationship between bodily structure (primarily that of the spine) and function, and how that relationship affects the preservation and restoration of health. Chiropractors use manipulative therapy as an integral treatment tool.

Dietary supplements: A dietary supplement is a product (other than tobacco) taken by mouth that contains a "dietary ingredient" intended to supplement the diet. Dietary ingredients may include vitamins, minerals, herbs or other botanicals, amino acids, and substances such as enzymes, organ tissues, and metabolites. Dietary supplements come in many forms, including extracts, concentrates, tablets, capsules, liquids, and powders. They have special requirements for labeling. Dietary supplements are considered foods, not drugs.

Electromagnetic fields: Electromagnetic fields (EMFs), also called electric and magnetic fields are invisible lines of force that surround all electrical devices. The Earth also produces EMFs; electric fields are produced when there is thunderstorm activity, and magnetic fields are believed to be produced by electric currents flowing at the Earth's core.

Homeopathic medicine is a CAM alternative medical system. In homeopathic medicine, there is a belief that "like cures like" meaning that small, highly diluted quantities of medicinal substances are given to cure symptoms, when the same substances given at higher or more concentrated doses would actually cause those symptoms.

Massage therapists manipulate muscle and connective tissue to enhance function of those tissues and promote relaxation and well-being.

Naturopathic medicine is a CAM alternative medical system in which practitioners work with natural healing forces within the body, with a goal of helping the body heal from disease and attain better health. Practices may include dietary modifications, massage, exercise, acupuncture, minor surgery, and various other interventions.

Osteopathic medicine is a form of conventional medicine that, in part, emphasizes diseases arising in the musculoskeletal system. There is an underlying belief that all of the body's systems work together, and disturbances in one system may affect function elsewhere in the body. Some osteopathic physicians practice osteopathic manipulation, a full-body system of hands-on techniques to alleviate pain, restore function, and promote health and well-being.

Qi gong is a component of traditional Chinese medicine that combines movement, meditation, and regulation of breathing to enhance the flow of qi (an ancient term given to what is believed to be vital energy) in the body, improve blood circulation, and enhance immune function.

Reiki is a Japanese word representing Universal Life Energy. Reiki is based on the belief that when spiritual energy is channeled through a Reiki practitioner, the patient's spirit is healed, which in turn heals the physical body.

Therapeutic Touch is derived from an ancient technique called laying-on of hands. It is based on the premise that it is the healing force of the therapist that affects the patient's recovery; healing is promoted when the body's energies are in balance; and, by passing their hands over the patient, healers can identify energy imbalances.

Martin Fielden

A static exercise cycle donated by patient Andrew Findlay was gratefully received by the medical rehabilitation unit at the DRI (Derbyshire Royal Infirmary).

The equipment was accepted on behalf of the department by senior physiotherapist Michelle Magrath (seen here with Andrew).

The unit is always grateful to receive donations which help other patients and the equipment will be put to good use.

The above article and photograph are reproduced with the kind permission of Synapse, November2002.

I had been attending the muscular dystrophy clinic at Oswestry over a number of years and one of the doctors that I saw there, was a Dr Margaret Phillips. Quite by chance I discovered that she had taken up a consultant's post in the Medical Rehab, at the Derby City General Hospital.

I went to see my GP and he was able to arrange an appointment for me to see her towards the end of 2001, which meant that I didn't have to travel to North Wales anymore. Through this, I was also able to see a physiotherapist from the Medical Rehab, who, although did not have a specific knowledge of FSH, she was familiar with neuromuscular conditions. She was excellent and from the six sessions that I attended, she was able to devise exercises, specific to me. I know that if I needed to go back again, I could do so.

Armed with these exercises, which I can do at home and in the gym, I feel more in control of what I know my body can, or cannot do. This was something else that I decided to do, join a gym, which also has a swimming pool.

I have been to swimming classes for many years now, which has been beneficial, but because I have become aware that certain muscles are becoming weaker, I realised that the motion of some of the weight machines (more so than the weight aspect), plus the bikes and tread mills may help me. I think that this has proved to be true, having been a member of a gym, since February 2002.

You may be thinking when does she have time to do all this? I don't always, as I work 4 days a week and have other commitments, as everyone has. I do, however, feel that I have to make time and if you've found that complementary treatments, like reflexology (which I've had and felt it worked on a painful area), or homeopathy (which I might try), are beneficial, then all to the good. It is doing something that you feel, helps you.

The reason for writing about this, is that I wasn't aware of the Medical Rehab Department, until my brother, who also has FSH, put me on to it, so if you haven't already gone to see them, try a referral from your GP.

I do have one tip for the ladies, I've found that cropped tops are a godsend, after spending years; pushing bra straps back on to my shoulders.

Our Conference 2001 was held on Saturday October 20 at the Southville Centre, Bristol.

Martin Fielden welcomed all to the conference. The agenda focussed on Phillipa Harpin’s work for the MD campaign with regard to modifications to the home environment, equipment and how to obtain funding. He also asked every support group member to join the MDC, it costs nothing (donations are of course welcome) but it does help the campaign’s fundraising for research if it has a large membership. The article on our Support Group in the Target MD magazine recently helped to raise our profile and brought the group some new members.

Phillipa Harpin said she was glad to be asked to talk and thanked the group for the invitation. She first covered how individuals needs should be assessed. It is important to put the needs first and budgets second. She explained that occupational therapists are employees of the Local Authorities, they tend to worry about budgets and forget the needs. She gave a handout of a Disability Needs Assessment Form/Architectural Brief designed to:

• Identify options relating to the needs of each individual
• Provide a time-saving method of recording the decisions made
• Provide an architectural brief for the drawing of the plans
• Consider the funding options
• Act as a check-list to ensure all details have been included

PH mentioned that she has written an adaptations manual that covers all aspects, of home adaptations and equipment based on her years of experience. The cost is £10 to MDC members, its first printing of 1500 copies was now almost sold out.

It is important to think about adaptations in good time, ie think about a lift before actually using a wheelchair. It is important to use a specialist service, as they need to understand the requirements. Arm weakness is a feature of FSH but experts do not necessarily understand it.

Families should learn to speak up and say how they feel as everyone should be more empowered. Authorities need to know the strain the family is under. All professionals working for disabled people have a responsibility to that person. Be your own key worker, find out who is involved. It is your house and the grant is given to you, you will be responsible for making the ultimate decision. It would be useful to keep a contact diary.

Work out your requirements, if a lift is required be certain that you get the biggest lift to allow for the largest type of wheelchair. When building an extension go for a pitched roof. Plan for access to the garden as well as the front door. When laying a path the minimum requirement is 900mm wide. Adaptations should give, as near as possible, the same freedom of access as for an able bodied person. The legislation specifies this.

• Cars. Ensure it will be possible to transfer from a wheelchair.
• Doorways. A disabled person needs to be able to open/close a door independently. In a recent survey only one in ten powered wheelchair users could go in and out independently, this figure is unacceptable. An automatic door opener overcomes this. It is important to ensure that the door width is correct with a clear opening of 900mm. Have a kick plate at the correct height.
• Remember that a 1700mm turning circle is required for a wheelchair.
• As MD is progressive you must think for the future.
• Bath v Shower. Carefully weigh up the Pros and cons. If a person can be independent in the shower go for the shower option. If not a bath with mechanical assistance may be a better option. Do not assume that a shower is the only option. It may be a good idea to build into the plan an option for a bath at a later stage. There are various types of shower seats, some with electric height adjustable or a wall mounted seat. It is important that the shower tray should be level.
• Toilet - Specifications all need to be taken into account. Consider an Electric toilet riser. Ensure washbasin is deep enough and that there is enough room for a wheelchair to fit underneath.
• Bedroom – ensure there is enough space behind the bed to allow for a carer to get around.
• Kitchen – be careful with taps. Ensure work tops at the correct height.
• Light switches and sockets – give careful thought to where placed.
• Ensure adequate storage/charging area for wheelchairs. Note that the grant makes no provision for storage.
• Heating needs to be higher for people with a neuromuscular condition between 70 – 75 degrees as they are less mobile and may feel the cold more than other people. Think about a wall mounted fan heater.
• Give careful thought to a fire escape and smoke alarm.

PH explained that there are various Architects around the UK who have attended her workshops and have a much clearer understanding of the needs of people with neuromuscular conditions.

In the second part PH spoke about funding, obtaining the Disabled Facilities Grant. The means test is also known as Test of Resources. It is important to look at the legislation and how it can help you.

The aim of the grant is to provide help towards adaptations and improvements to the homes of disabled people. There are two types of grants, a mandatory grant with a maximum amount of £20,000 in England. Over £20,000 based on needs a discretionary grant can be added. The legislation is geared to help disabled person. Everyone should definitely apply for a grant even if it results in an award of zero as the cost of later requests will be totalled with the first and may then qualify for a grant (see the manual for more explanation).

An alternative session was run by the two attending Family Care Officers, Jan Smith (Bristol),and Jane Stein (Oxford) The FCOs explained that they were employed by the Muscular Dystrophy Campaign. They provide information regarding neuromuscular conditions and support services. They look after 1,000 families each. They visit families after diagnosis. There are 16 Family Care Officers throughout the country. Families are referred via clinics or through self request. They do not have to be members of the MDC. FCOs are trying to get Neurologists, G.Ps etc to be part of the Family Care team to enable them to refer patients. The Bristol FCO is now running a monthly adult neurology clinic, they are very successful, she is now looking to get some funding. The Oxford FCO holds a weekly adult neurology clinic just for the MD muscle centre.

A discussion took place on physiotherapy, funding can be obtained for a six week stint but this is not sufficient, as FSH is ongoing. We will ask the MDC whether they can help to campaign for extra treatment as ongoing physio will be cheaper in the long run and more effective and will lessen the need for adaptations. Some members found swimming to be of great benefit and very enjoyable, some swimming pools have special sessions for disabled people.

The Conference ended at 4:00 pm.

To view the photographs of the Conference please click the "Annual Conferences" button on the main menu.

Thank you for the recent newsletter and the revised “25 Questions Answered”.

I think the revised leaflet is excellent

Thanks, Bernard Liddy

Our Conference 2002 was held on October 19 at Glapwell, Derbyshire.

The Chairman, Martin Fielden welcomed everyone (55 registered). He thanked Moira and Andy Findlay for finding the venue for our meeting and Lorraine & Norman for making all the arrangements. He mentioned that we were fortunate to have three companies present exhibiting their services, Chartwell Insurance, Sure GB Limited and Go Independent.

Muscular Dystrophy Campaign update:

At the last support group meeting Philippa Harpin believed that her position would not be filled upon her retirement. Martin wrote to the MDC expressing our concern and was assured that the position would be filled, although the candidate would be based in London and not Newcastle. One of the FCO’s attending confirmed that Yvonne Masset has now taken on the role as National Occupational Therapy Advisor.

The MDC have recently introduced several changes, they have revised its constitution, placed both Care and Research under a single Director (Ruth Geall) and are starting a campaign to increase public awareness and funding for the Campaign. Martin has been appointed as an observer on the Medical Research Committee. Research into FSH and some other muscular dystrophys are not being progressed but he is trying to encourage more research into FSH. There is to be a research strategy meeting in December which he will attend and which will discuss this among other things.

MF encouraged those present who were not already members of the MDC to join. They would then receive periodic updates on FSH.

Martin mentioned two items of research that had been drawn to his attention. Dr K Bushby and colleagues have shown that muscle pain can be a prominent feature with some FSH patients, all of which cannot be ascribed to problems with posture. The cause and treatment of such pain is to be investigated. The MDC recently produced a research update on FSH, which has been circulated to members who have indicated in their MDC application form that they have an interest into FSH. We will include this in our newsletter. This US study indicates that the deletion on Chromosome 4 leads to inappropriate expression of a gene(s) rather than gene repression. These results could lead to potential therapeutic interventions that do not involve gene therapy.

The Family Care Officer’s database shows that 7% of their clients have FSH, with a total of 712 actively on the FCO's UK list. The total of people with FSH is very much higher however. At the end of September, Martin attended an FSH-specific day in Belfast organised by the Northern Ireland FCO, Oonagh Morrison. It was a very good meting and afforded Martin the opportunity of meeting new members.

Martin introduced our first speaker, Jane Freebody, who specialises in physiotherapy of Muscular Dystrophys and in particular FSH. She works together with Dr. Hilton-Jones at the Muscle and Nerve Centre in Oxford.

Jane has over twenty years experience. Her talk covered three areas, pain, posture and exercise. It is recognised that muscle imbalance causing altered posture can be painful. Joint pain is typically felt in the neck and lower back. Muscle Pain is felt in the thigh, arms and forearms and does not always respond to treatment.

Strong muscles shorten and can stretch weaker opposing muscles causing pain. Normal muscles contain many more muscle fibres than are usually needed so that in use, groups of fibres alternate resting and working. People with muscle wasting lose this spare capacity and therefore the muscles easily tire, it is therefore imperative that anyone with FSH is able to pace themselves.

Pain management – alternative therapies can help. Each individual needs to explore what works for them. Not all Physiotherapists have the depth of knowledge to deal with a patient with FSH, Jane is happy to be contacted by any Physiotherapist who would like advice on how to treat FSH patients.

Posture - it is important to select and adopt the appropriate alignment of body segments in order to maximise efficiencies and to be able to perform the chosen activity. The greatest enemy for neuromuscular conditions is the force of gravity. Jane explained the Kypho-Lordotic posture, common in FSH, where the spine develops a pronounced ‘S’ shape due to shoulder and neck weakness causing the head to fall forward. She explained that when we are in a sitting or resting position we gravitate to maximum effect. A lumber roll can help aligning posture and a reclining chair will assist in taking the weight off the shoulders and neck.

When in the lying position with back on the floor put a cushion under the head, support legs on a chair keeping hips and knees at right angles. Relax in this position for twenty minutes.

The backs of wheelchairs are usually too vertical and a half circle lumber roll or wedged cushions may help to correct the user’s posture.

Exercise - the latest research by the heart foundation has recommended that every adult should have five sessions of moderate activity for thirty minutes per week. However if all you can manage is a few minutes at a time that is OK, remember that any exercise is better than none, do not overdo it. Stick with a routine and you will feel the benefit. ‘Moderate intensity activity’ means breathing becomes harder and one gets warmer. When exercising you should not be so out of breath that you cannot talk and be active at the same time.

Look for opportunities, simple things, like parking the car further away, promotes walking, which is a good type of exercise. Try and walk up the stairs whenever possible or you can quickly lose the skill. The type of exercise is not important, it can be anything from yoga, dancing, swimming, and using an exercise bike. It has to be something that you can do in your day. It should not be a chore, some people like to exercise in groups others like to do things on their own. Exercise in water can be just as beneficial as actually swimming. Walking in water is a good exercise; in general water is a useful exercise medium. Remember that losing a key function, e.g. standing, climbing stairs etc. does not mean that your FSH is progressing rapidly. It is likely that muscle loss has just passed a threshold or critical point where there is insufficient muscle to do that task.

Electronic muscle stimulators, such as those sold as slimming aids so that you can exercise while you relax(!) are of no use. Wheelchair users can exercise using a pedalling device on the floor which can be motor assisted if the legs are particularly weak. Jane produced a fitness and exercise sheet to give out. We will incorporate this in the newsletter. Carrying excess body weight can make a difference, it would be beneficial to try and reduce weight, but be cautious, it should not become an obsession.

MF thanked Jane and introduced Dr David Smallbone who is a homeopathic physician. He explained the history of Homeopathy. He explained how the homeopath works with the patient to elicit their problem. People with neuromuscular problems may benefit from finding the right constitutional remedy to crystallise their functionality. The response is usually quite rapid with homeopathic remedies.

He explained how the homeopathic medication is prepared and the different strengths. You should always look for a qualified homeopath with recognised qualifications preferably from the Royal London Homeopathic Hospital or by recommendation. Many Homeopaths have conventional medical qualifications also.

After lunch MF introduced Dr Peter Huggins who gave an overview of Acupuncture and the use of Intra Muscular Stimulation. He explained that muscles can go into Fibrillation (spasm) and become deprived of oxygen and put pressure and damage nerves causing ‘supersensitivity’. Soft tissue supersensitivity pain requires desensitisation and this usually involves some form of physical therapy - a "hands-on" approach from specially trained doctors and physiotherapists. One of the most effective treatments is a technique known as Intra Muscular Stimulation. IMS can loosely be described as a form of acupuncture, but in reality it is more complex. IMS involves using acupuncture needles to specifically target injured muscles, which have contracted and become shortened from distress. These shortened muscles cause pain not only in the affected muscle itself, but also from the resulting stress on surrounding tendons and joints. IMS treatment causes the muscle to “grasp” the needle, which in turn forces the shortened muscle to release, providing relief from pain. IMS is a system of dryneedling that is based on a radiculopathy model for chronic pain. Unlike acupuncture, IMS requires a medical examination and diagnosis, and it treats specific anatomic entities selected according to physical signs. Examination, diagnosis, rationale for selection of points for treatment, as well as progress of therapy is all determined according to physical signs of radiculopathy. The IMS therapist, with a sound background in anatomy and neurophysiology, is therefore much more effective than the traditional acupuncturist

Dr Huggings stressed the importance of the therapist only using sterile disposable acupuncture needles. For those disliking needles, there is an alternative treatment using a low powered infrared laser instead. It is important when choosing an Acupuncturist that they are accredited members of The British Medical Acupuncture Society.

(MF) For more information see www.istop.org/ims_explained.htm

MF thanked Dr Huggins and introduced Liz Jarrom, our final speaker, who spoke about Reflexology.

Liz explained the history behind Reflexology and that it is not an alternative therapy but a complimentary therapy. She uses “gentle touch” Reflexology. By touching various points on the foot, she treats the whole body through corresponding points on the sole. Therapist and patient should establish a good rapport if the treatment is to be successful as both mind and energy levels are involved.

The benefits are stress relief; relaxation, pain relief over a period of time and it can also help circulation, and establishes balance in the body.

A general discussion was then held with MF dealing with the general questions that had been sent in by members.

“Has anyone found a ready solution to the problem of exercise, gentle bodily movements in a group setting? I am finding at 76 that daily life takes up so much of my depleted energy, I have not the spirit to discipline my body toward exercise. Toning tables were a boon but they did not make enough profit for the local authority leisure Centre. I am planning to use a personal trainer at £20 per hour.”

This topic was covered by Jane’s talk.

“Is there a publication that encompasses all someone with a MD would need to know regarding resource of help, organisations, rights, possible financial help, Physio centres etc?” There is not one at present but perhaps the new Research and Care Director and National Occupational Therapist will put one together. It might be a good idea to send out a questionnaire to sufferers of FSH asking them how they cope with the condition. Local carers centres are a good source of information. (MF)

“How do members manage getting out of a car?” Martin said he is a member of the Disabled Drivers Motor Club and they produce useful newsletters with tips and advice. There are several firms producing devices to assist getting out of a car, standing up and handling wheelchairs.

“Does any one suffer from memory loss?” One member reported such an episode. This could be due to circulatory problems not associated with FSH. Unfortunately we are liable to all the usual medical problems in addition to our FSH!

"Does anyone wake up with their arms dead and experiencing “pins and needles”? Several had observed this from time to time and it seemed to relate to finding oneself in an uncomfortable position.

It was suggested that using sheets made of satin, or other slippery material, could help turning in bed. A ‘Bed Leaver’, supplied by your local authority Occupational Therapist, could also assist in both turning and getting out of bed. An electric device may help in raising the head and ease turning. The condition could also be due to wrong pillows. Jane Freebody said it is important to have the correct depth of pillow between ear and shoulder, two pillows crossed to make an inverted ‘V’ can be a solution.

Dr Hilton-Jones’ replies (paraphrased by MF) to the medical questions:-

Questions: Has there been any progress with stem cell therapy that may be beneficial for FSH sufferers?. In particular for children is there any progress with any form of supplements to slow muscle wastage. (My daughter is 8 yr. old) Is the stem cell research recently publicised likely to have any effect on the treatment of FSH Muscular Dystrophy? Will researchers in the UK be following up on the recent genetic findings in the USA? In order to speed research towards an effective treatment for FSH?

Answers: The molecular mechanisms in FSH are only just starting to be. We don’t yet have any idea as to which of the new discoveries will be of value in developing therapy. My guess is that we will see a great deal of basic science work over the next 5-10 years and that only after that time will we see much in the way of specifically directed therapies. The situation is somewhat similar to Myotonic dystrophy in that a novel mutation mechanism was identified (11 years ago) and we are only just starting to see attempts at specifically directed therapies in animal models.

There is a huge amount of work going on in the neuromuscular field in terms of genetic engineering techniques/stem cell therapy, etc. This is not because these are common diseases, but because muscle is easily accessible. It may well be that discovery in one disease may aid the development of therapy in other diseases. The obvious answer is that we don’t know what is going to happen, because if we did we would do it now.

I personally doubt that there will be any successful “gene therapy” within the next 10 years. My scientific colleague Prof. Kay Davies estimates 8 years. That is not to say that in the meantime other attempts at therapy will be made.

You may have read about the use of creatine - some minor effect but not significant clinical benefit. There is an enormous danger of anecdotal reports of treatments without proper control by people unqualified in the field. Remember, even if a successful treatment is found tomorrow, it will take more than 5 years to go through all of the clinical trials and registration processes, etc.

Question: I have a granddaughter aged 18, will it be possible for her to have a planned baby i.e. an egg fertilised in a test tube tested for FSH and only an unaffected fertilised egg implanted in the womb thus saving the trauma of a pregnancy termination?

Answer: Pre-implantation diagnosis is now becoming available. I am not aware that it has been done in FSH yet, but it has been used in myotonic dystrophy. Prenatal diagnosis, with selective termination of affected foetuses, is available but not widely used, because of the perception that FSH is a “relatively mild” condition

General discussion:

"Why is it that after discovering 30 years ago that my mother and I have FSH MD I feel that more and more, under the present government especially, that I am a Third class member of this country’s population? Receiving less and less assistance each year from doctors, the NHS, and Social Services and the Treasury all the while as my condition deteriorates. I get little help from Social Services with help for housework, no physiotherapy unless I pay for it. No chiropody from the NHS despite being unable to cut my own toe nails (my feet are well enough not to warrant it). Neurology specialists tell me to “go away” and learn to live with my condition. My own GP deals with me basically on the basis of what I tell him I have discovered from the internet, and is only really interested in showing me to trainee doctors as some kind of “physical oddity” who cannot be further helped. I now do not feel that I am getting value for money from the 6% National Insurance contributions that I paid from my salary when I worked or from the taxes that I continue to pay on practically everything I buy or use, in the lack of assistance I receive".

We discussed the above, and several of our attendees also said they felt the same and that they just felt like “pieces of meat on a table” when attending hospital appointments.

One member, Colin Lucas, mentioned that the FSH Society in the USA have successfully lobbied the US Senate to earmark one million dollars annually, for three years, for research into FSH. Unfortunately, the UK government’s method of funding medical research did not offer a similar opportunity and very little MD research, apart from that funded by the MDC, is being done.

It was noted that the DDA comes into force in 2004; it may be a chance for our members to lobby local Councils.

We need articles for our next newsletter as we need to share information between all our members. Our membership currently stands at 296.

A member has suggested springtime for our annual conference as October can mean dark journeys and poor weather. After a discussion it was decided we would try and arrange our conference earlier next year.

The meeting ended at 4.00pm.

To view the photographs of the Conference please click the "Annual Conferences" button on the main menu.

Research led by Rossella Tupler has identified a new disease mechanism involved in Facioscapulohumeral muscular dystrophy (FSHD). FSHD is caused by the loss of a piece of repeated genetic material (DNA) at the end of chromosome 4. These researchers have shown that this area of repeated DNA is essential to prevent certain genes being turned on. Therefore in FSHD this loss results in increased activity of nearby genes, but how this results in FSHD is still not understood. Future research will investigate whether it is possible to control the activity of the overexpressed genes for therapeutic effect but this has yet to be done.

On Tuesday, 17 December 2002, accompanied by my son and daughter, I received a Diploma in Disability Studies from Leeds University.

When, 5 years before I was told that I had FSH, about which I knew nothing, I did not dream that a whole new world would open up to me and life would acquire a quality not experienced before.

When I was first diagnosed I contacted Sue Manning, the MD Family Care Officer for Yorkshire, who has been a great support from the first and always there with answers to my many questions. In 1999 she commenced the MA/Diploma course in Disability Studies at Leeds University and suggested that I would gain a lot from doing the course myself. This turned out to be the case and I ertainly felt that I was exercising my brain cells as I put my social life on hold as I struggled and worried over all the reading necessary and in producing the written work and weekly short talks. I tried to get some funding to assist in financing the course and the only source I could find was The Yorkshire Ladies' Council of Education. This charming, slightly old-fashioned group is a ladies' club in north Leeds composed of retired professional women whose mutually beneficial social activities involves much fund raising. Each year they give a bursary of around £300 to each of six female post-graduate students in studies of a socially beneficial nature. This support turned out to be crucial for many times I would have abandoned everything had it not been for the feeling that I would be letting these generous people down.

There were eighteen people on the course, many of whom were active teachers, social workers or organisers associated with some form of disability together with five people with obvious impairments. I was the oldest member of the group by far but I was never made to feel this because of the intelligence and caring nature of all those involved. Most people were continuing on the second year to do the MA to help their careers, and I was awed by the intelligence and persistence of some members of the group. The girl with spina bifida who had to have a reader for her work as her speech was indistinct but whose output was outstanding (she got a first class MA degree this year). Also, the young man who had been born without arms or legs due to thalidomide, but who had a first-class brain and a phenomenal sense of humour. He was one of three people participating in a recent BBC documentary on thalidomide.

Because of being retired and also the financial aspect, I decided to restrict my efforts to the Diploma course, which was a structured year of lectures and discussions, giving a valuable insight into matters of disability. Disability is a relatively new addition to the social sciences with Leeds University being a major centre in this country and the professor, Colin Barnes, who has been visually impaired from birth, being a world leader in disability matters. Because of this many people travelled long distances to attend the course and many more did it by distance learning. I feel extremely lucky that I was in 'the right place at the right time' so to speak as it only took me ten minutes to drive from home to the university. A personal assistant was assigned to me to collect and return books from the library and to do any necessary photo-copying this service being paid for by Leeds City Council.

We met on Friday afternoons and learned about attitudes to disability throughout history, and the current scene in society today all over the world. We had many visiting lecturers, most of whom are known world-wide for their efforts on the part of those with disabilities. Nowadays western society appears to have reverted somewhat to the hedonistic attitude of the Greeks, with youth and perfection being thought of as the most important aspects of life. However, alongside the attitudes of the unthinking masses today are those of many people, mainly disabled activists, battling for the right of each person with an impairment to participate as fully as possible in society. The course emphasised that someone with an impairment is disabled by Society, because of the way the built-environment is organised and the reverence of physical perfection. We today are lucky that there have been those who have fought to improve matters and with the Disability Discrimination Act of 1995 at least a start has been made, although there is still a long way to go. The study of the history of attitudes to disability reveals why there is still much fear and embarrassment in many people's feelings about disability.

We had to do three essays and one dissertation for the Diploma over the year, plus a short weekly book assessment per term. With my love of history and my hobby of seeking ancestors I wrote about the history of disability for my first essay, whilst others chose subjects relevant to their own work or interests. My second essay was in connected with the implementation of the Disability Discrimination Act 1995 and its helpfulness or otherwise in improving the environment for someone with a disability of whatever type. I chose three public places to asses; a public house, a theatre and a family-run restaurant and the research was very enjoyable! As I already had a Diploma in Counselling Skills obtained during my teaching career, I concentrated on counselling those with disabilities for my third essay, investigating the theory that if the counsellor carries past disablist views this can cause more harm than good when counselling someone. For my dissertation I compared the lives of people with FSH Muscular Dystrophy in differing circumstances and had many enjoyable and informative discussions with members of the FSH Support Group, mainly Stan Morgan and Di Cl whose daughter had recently gained a BA at Manchester with a study about how FSH affected families). Incidentally, when I first tried to find where my fsh came from and advertised in Target I met Stan and Di whom we have discovered share the same ancestors as I do, namely John and Mary Broadhurst who married in Prestbury, Cheshire in 1709.

So, as I accepted my Diploma before Christmas, thought about my good fortune in being able to do this course for I learned so much about a part of life that I had never come across before and I met so many wonderful people. The knowledge I now have has made me feel more comfortable as a person with a disability and as I go round my daily life I note areas where people could find difficulty (such as cinemas, shops etc.) and which could and should be altered. I seek the manager or owner and say, nicely, 'do you realise that you are breaking the law?' My hope is that I will be able to make life easier for others, like myself, who have an impairment.