|
Firstly, I would like to thank Martin Fielden for his dedication and direction in chairing the group over the past four years; it has been my pleasure to work together with him and on behalf of all the members of the group would like to wish him all the best. Secondly, I am delighted to welcome Sheila Hawkins as our new Chair; I know she has lots of new ideas to bring to the group. Sheila has been a member of the FSH Group for over ten years, after her diagnosis in 1989 and has found the group helpful as a source of support and information. She hopes that the group will continue to provide the same help to other people with FSH, including those people who have attended recent meetings. Sheila has a sister with FSH who lives in California. Apart from FSH Sheila has a full-time day job with Volunteering England, who promote volunteering. She has also travelled widely in Eastern and Central Europe (where people are much more direct about asking 'what is the matter with your leg?') and enjoys reading anything, and almost anything at the theatre. Sheila lives in Leicester and looks forward to meeting new members of the group over the next few months. Thirdly, thank you to you our readers and contributors for keeping in touch and welcoming new members to the support group. For newly diagnosed people the fact that there is a support network helps them to come to terms with the fact that they have a condition about which there is still a lot of ignorance. Lorraine Jonas |
|
This is my first year as Chair of the FSH MD group, having taken over from Martin Fielden who resigned as Chair in November, but who continues to be involved with the Muscular Dystrophy Campaign as both a Trustee and member of the Research Committee. I’d like to thank Martin for his excellent and continuing work on behalf of the group, which I’m sure everyone has appreciated. As part of my day job I am involved with the Department of Health who are really trying to involve patients in planning and delivering services. Some members of the FSH group are already involved in local arrangements such as Patients Fora and I think that over the coming months there will be more opportunities for the group to be able to comment on services and what is useful to us. Rather than just one person (the Chair) representing the group, I’d like to set up a pool of group members who are able to attend meetings on behalf of the group, to develop expertise among members and to ensure that we are represented where possible. If you’re interested in discussing this please contact me. Our next Conference is planned for June 4th in Birmingham where we hope to have some interesting speakers who can bring us up to date on current research and developments. If you haven’t been to a Conference before you’re very welcome – they are usually quite informal – and if you’re an ‘old hand’ I look forward to seeing you in Birmingham.
Sheila Hawkins |
|
This year our annual conference combined with the MDC’s Annual Charity Members meeting and their Northern Conference. The meeting was held in the Ramada Jarvis Hotel, Otley Road, Leeds. There were over 130 participants and MDC staff including 43 FSH group members. After a welcome by Lyn Inman (MDC Regional Director) the meeting began with a review of the last year by Christine Cryne the MDC’s Executive Director. Most charities found 2003 a difficult one financially and in particular legacy income, which is always unpredictably variable, was low for that year. Being chosen as Sommerfield/Quik Save charity of the year is helping and new fundraising initiatives are beginning to pay off. The Joseph Patrick Trust gave 229 grants for equipment of which nearly half were for wheelchairs. The magazine ‘Target MD’ was revamped with an aim to include more practical articles. The Neuromuscular Centre saw 127 patients given physiotherapy and educational/employment training mainly in IT. The MDC is campaigning for improvements in the Disabled Facilities Grant (Northern Ireland and Scotland are more generous than England) and wheelchair services. Public awareness of MD is being raised in a campaign which has already achieved success in reaching a readership of 13.8 million with articles in 7 national and 101 regional newspapers as well as items on national and regional TV and Radio. The next presentation by two MDC Regional Officers outlined major fund-raising events past and future. Last year a sponsored walk of the Great Wall of China by members raised £50,000 and in 2005 there is to be a sponsored trek in Patagonia. ‘It’s a Knockout’ events are being held at various sites throughout the UK in 2004. Members were urged to take part and ‘Achieve your dream’. Professor Volker Straub, The Harold Macmillan Chair of Medicine in Newcastle gave an update on Research into MD. His background is in Paediatric Neurology and he took up his new position last October. The talk was divided into four sections; the muscular dystrophies, pathogenic aspects, treatment strategies and the latest antisense oligonucleotides research. The MDs are characterised by muscle weakness and wasting, they are determined genetically, are progressive and result from a primary defect in the affected muscle cells. There are more than 30 known gene loci associated with MD which has a prevalence of between 1 in 2000 to 3000. He then illustrated various points in muscle fibres where the defects in different cellular structures were important. Many of the defective proteins are associated with the cell membrane and result in various dystrophies e.g. Duchenne, Becker, Limb Girdle. Cell membrane damage and repair were illustrated graphically. Next, treatment strategies for Duchenne MD were discussed. The muscle cell damage follows a progressive course from the initial structural defect through membrane instability, necrosis, inflammation and finally to fibrosis. A surprisingly large number of pharmaceutical companies are looking for methods to intervene and stop this progression by halting the process at various points along the way. Thus there are potentially many treatment strategies. Unfortunately, there are, as yet, no treatments available on the market. Finally he described the latest research approach to treat Duchenne by using ‘antisense oligonuleotides’. Duchenne muscle cells make an inactive form of the important protein Dystrophin, while in the related condition, Becker MD, the cells make a modified but partially functional form of Dystrophin. While the error in the Duchenne dystrophin gene can only make an inactive protein it is possible with a process known as ‘induced Exon skipping’ (using the ‘antisense oligonucleotide’ technique) to by- pass the ‘error’ in the gene so that messenger RNA is produced that can code for a functional, if imperfect, form of Dystrophin. The technique has been demonstrated in the MDX mouse model of DMD and variations offer hope of use in anticancer and antiviral therapies also. Prof. Straub also led the FSH session in the afternoon as described later. Ruth Geall, the MDC Care & Research Director brought us up to date with advances in the Care and Research fields. Clinical care services are concentrated at the 3 muscle centres in Oxford, Hammersmith and Newcastle with new Muscle networks established in Scotland and most recently, Wales. At these centres there is integration between clinical services and research. There are also three rare condition specialisms, (Congenital MD, Limb Girdle MD and Myasthenia Gravis) split between the three muscle centres. In March this year the MDC organised a symposium for care professionals with workshops and discussion sessions to bring them up to date. The ‘North Star Project’ is a new initiative to provide a nationwide standard of muscle strength measurements that can be applied in clinics across the country. ‘Condition specific days’ and conferences, Fact sheets, Research reviews and updates, revamped web site, new edition of the Adaptations Manual and an Advice and Information telephone line are new or upgraded initiatives of the Campaign. Future developments in care services include a review and pilot study of exercise and physiotherapy, self management materials and Care Cards for a range of conditions including, FSH. Ruth and Christine both reported that Jenny Versnel, the campaign’s Head of Research had put together a consortium of UK scientists to bid for money from the Government White Paper on Genetics and, thanks to joint lobbying with two other groups, they won an allocation of £1.6 million to be administered through the MDC. This project hopes to get to early stage clinical trials within 4 years. The morning session ended with the Annual Charity Members Meeting when the Annual Report and Accounts are received followed by the election of a Chairman, Vice Chairman and Hon. Treasurer. A ballot was held to elect two National Councillors, the results to be announced in the next Target MD. The business meeting took less than 30 minutes. We then broke for lunch. FSH Support Group Annual Meeting: Chairman Martin welcomed everyone (43+ in the room) and in particular our past Chairman, Gordon Nutter and Wendy who live quite close to the hotel. It was good to see Harry and Ann Mulholland from Northern Ireland once again. Apologies from our Secretary and Treasurer, Lorraine and Norman Jonas were given as they had to attend an important family event that weekend. The finances are quite healthy and membership has grown steadily. We also welcomed two visitors from France who belong to the French FSH group, which is a condition specific subsection of the AFM, the French equivalent of the UK MDC. The French group is fairly new and has ~60 members. Martin hoped that a new chairman could be found for our support group as he has done the job for 4 years now and a fresh face would be welcome. Professor Volker Straub opened the FSH Specific session with a talk followed by a Q&A session. He reviewed the present state of knowledge of FSH.
Microscope sections of normal MD affected muscle were shown where the fibrotic inclusions resulting from damage followed by inflammation and necrosis was visible. He described how DNA was isolated from blood samples and how, in FSH patients, chromosome 4 showed a shortened section on the long arm due to a deletion of a repeat section at the end of the chromosome. If the deletion results in a section that has less than 11 repeats then symptoms of FSH may occur. Because the missing section is not a gene and therefore does not code for and generate a protein, FSH is different to other MDs such as Duchenne where the DNA mutation results in a non functioning protein. If the missing DNA is not a gene how can its absence cause the condition? There is evidence to show that the missing piece would normally double back on itself and interact with nearby DNA that does have genes. The result of this interaction seems to inhibit those genes from producing the proteins they code for. Not all the genes in our DNA are normally expressed (which is just as well as we have 99% of the same genes as a chimpanzee! mf) It is proposed that failure to repress these genes on chromosome 4 results in the production of unwanted proteins that bring about the symptoms of FSH. This leads to the exciting possibility that it may be possible to develop molecules that bind to the same sites that the missing repeat sections masked, and similarly inhibit gene activation. This is potentially simpler and safer than the gene transfer therapies that are proposed for some of the other dystrophies. The speaker summed up by saying that:-
Finally he ended with a quotation:- It is difficult to say what is impossible, for the dreams of yesterday are the hopes of today and the reality of tomorrow. (Robert H Goddard) Several questions were asked by our members:-
Q. One member commented that they had been very fit and active until well into their 50s when deterioration due to FSH became apparent. Was this due to a worsening immunological status or something else?
Q. If the same DNA error is present throughout the body why are muscles on one side of the body sometimes affected years before the same muscles on the other side?
Q. One member was concerned that his use of prescription drugs to control blood pressure could, by affecting Calcium levels, make muscle damage worse.
The possibility of cell transplants was discussed and the French visitors reported on a muscle transplant that had been used to correct an ankle that was badly twisted due to MD. The ankle was straightened but proper function was not recovered. The Chairman thanked Professor Straub on behalf of all present with applause.
During the afternoon FSH session there were five workshops in parallel for other MDC members. These were, Mobile Arm Supports, Coping with loss, Carers issues, Direct employment of carers by the patient and Fundraising/Volunteers. There was a final open session before tea and close of the meeting at 4.30. In general I thought this was a good meeting which allowed both FSH and MDC members to appreciate both the wider and more condition focussed aspects of Muscular Dystrophy. The main drawback for FSH SG members was that there was less time for the personal interaction with each other which we all enjoy so much. In 2005 we revert to a pure FSHSG conference. Martin Fielden |
|
Flora Light Challenge for Women 2004
Sunday, September 5th dawned the perfect English summer day. Warm and sunny with a brilliant blue sky until well into the evening. We drove from Windsor and were lucky enough to find a good parking spot very close to Hyde Park. As we walked closer to the start of the race, we were surrounded by thousands of women preparing for the event, in fact, over 20,000 in total. Penny, Kate, Claire and I had all decided to walk the route as did hundreds of other women. We never actually saw the dedicated runners who would be the first to cross the Finish Line as they were probably almost a mile in front of us and we could not even see the Starting Line for the sea of bodies in front of us. So many women, all participating for their own charities, all ages, some with their children in pushchairs, some obviously grandmothers and all ages in between. Everyone enthusiastic, in good spirits, enjoying the moment. So many women, all gathering together for an enjoyable event in support of their own causes. Many were also competing in memory of a loved one and their chosen charity. We were all given a number and there were plenty of bottles of water on hand. There were also some very clean toilets and we never felt uncomfortable with the large crowd. Just a very relaxed group of women enjoying a peaceful, sunny Sunday in Hyde Park. Finally we were off, very slowly at first because of the mass of people. The walk was all very relaxing, everyone chatting, encouraging each other and enjoying the beautiful day. We even stopped briefly for an ice cream along the way! As you can observe from our photos we had a jolly time. I must admit, about three quarters of the way along the route, I did begin to feel tired (I wear braces on both legs because of foot drop) but I was given a helping hand from Kate and Claire! I think 5k. was just about enough for me! We felt so fortunate to be able to take part in this Fun Run/Walk. After the event, as the crowds dispersed and we made our way back to the car, we were already making plans for next year. We will try and rope in as many friends and family as we can and make a day of it, picnic afterwards and bring the younger members of our extended family. We drove home in the warm sunshine and very soon after arriving at Penny's house we were all in the pool, cooling our muscles, relaxing, enjoying the end of a perfect day.
I am very grateful to the many family and friends who sponsored my walk. Your donations will be for such a worthy cause FSH Muscular Dystrophy. Thank you all so much. Perhaps I will see you next year in Hyde Park another warm, sunny day perhaps and a guaranteed good time!
Jane Rocco |
|
I am a mature student (aged 53) undertaking a part-time degree in a college near my home. As a part-time student I was not made aware, by the college authorities, that I could apply for certain concessions, until after I had been studying for a year. I am a FSH MD sufferer. When I discovered that students with disabilities could apply to have extra writing time for examinations I applied to see the student support officer and I was granted 25% extra writing time for all my exams. That was all I asked for, BUT, the student support officer asked me all about my condition and completed a form to try to get me all the help that was available. It is not apparent, when people see me that I have FSII, as I have little trouble walking except up steps and stairs. My main problem is weakness in my face, shoulders and arms, so writing at great length can be very tiring. The result of the Support Officer's report was that I had an assessment in our local university. The assessment officer knew nothing about MD so she looked it up on the net! She wrote a report giving her assessment of the condition I could be in by the time I finished studying in 2005, if my health deteriorated. Consequently I have now taken delivery of a new computer, printer, gel pad on which to rest my wrists, free-moving mouse and gel pad, a hand held Dictaphone to record lectures. a sloping lap top to rest on to write, plus a hook allowance, a cartridge, paper, disk etc., allowance. My computer software includes "Dragon" so that I can speak to the computer instead of typing. It also has software so that I can listen to my recorded lectures in my own time. I also could have had a lap top to type my exams but at the moment I can write faster than I can type. To all the readers of this article — if you are considering going to college or you are already in college — ensure that you see the Student Support Officer or Student Disablement immediately, so that you can ensure that you are made aware of all the support and equipment to which you may be entitled. If you don't ask, you don't get! Janet M Neilson |
|
Care. If you are a member of the MDC (and I hope you are) you will have been advised of important changes that are a consequence of a decline in income resulting from a decrease in legacies, which are always variable, and loss of investment income due to the depressed stock market. The majority of the MDC’s income is divided between Research Programmes and Care services which includes the Muscle Centres. A recent survey of members confirmed that available funds should be equally split between Research and Care. Research spending is based on grants funded for one to three years and when a grant is awarded, money for the agreed period is earmarked for the full period. With Care services the situation is different as most of the money covers long term salaried employees. While a reduction in income can, in the short term, be compensated by reducing the research budget this is not possible for long if the MDC is to fulfil the Charity’s mission statement and maintain a 50/50 balance between Care and Research. A decrease in the Care expenditure became inevitable, much as we do not wish to see it. Thus as you will have heard there will have to be a reduction in the budget for FCOs. The Family Care Officers all do a magnificent job but the service is being reorganised to reduce, as far as possible, disruption of the present service and hopefully to get the Health Services to take on a slice of the funding. This is already underway. The MDC can then plan its care expenditure in a sustainable manner, as it presently does with research expenditure. Increased contact at Clinics and availability for advice on the telephone is planned. Research. At the beginning of October 2004 the MDC held a conference in Birmingham for all scientists involved with MDC research grants. The speakers represented the younger of the scientists working on the programmes (talk about policemen looking younger!). It was inspiring to hear first hand what was going on and to realise there was a next generation of dedicated scientists to follow on from their senior colleagues. Before and after the conference the Medical Research Committee met to discuss and plan Research Strategy. One point I raised was the lack of research on the various MD conditions where there was a paucity of the most basic knowledge or where the MDC was not currently funding research in major conditions. Taking the example of FSH (why not), research can only be funded if a research proposal is received that is judged likely to be productive. Advertising for specific proposals has never proved successful in the past. Many projects generate knowledge that is applicable to several types of MD, including FSH, and that is not always apparent when the grants are listed. The MDC does not have the resources to fund research into all the different MDs at any one time but it does collaborate with other countries, e.g. The Netherlands, where research into FSH is currently active. Scientists from The Netherlands are represented on the Medical Research Committee. This helps avoid wasteful overlap. Some clinically applied research is being funded now and any project applications in very basic science will have to show how they can be related to the clinic. I was much happier after the strategy meeting since, while research will always be based on high quality science, it will be focussed with clinical endpoints in mind. If any FSH support group members wish donate (or by legacy) to the MDC research programmes you can specify that the money must only be used for FSH research and it will then be set aside until a suitable proposal is received. Just as I finished writing this I heard of a proposal for an FSH conference to be held in Holland where scientists working on FSH research programmes would give talks (in English) on their latest results and there would be physiotherapy and care talks/discussions. This could be held in the fall (September?) of 2005 and using budget airlines the cost of attending should not be too great. If you are interested please let Lorraine know soon so that details can be sent to you when available. Martin Fielden |
|
Make Britain Open 4 All
Our Open 4 All campaign is running across England, Scotland and Wales to highlight the steps service providers should be taking to make their services available to everyone. Throughout the year there will be a host of activities aimed at raising awareness of the new duties for service providers and rights for disabled people. Help us make your town Open 4 All! Is there a shop on the high street where steps stop you from going inside? Is there a cafe where the door is too narrow for your wheelchair to go through? Do you wish you could use the swimming pool with your children instead of watching them from the side? Is there somewhere you've always wanted to go, but never been able to, just because there are too many obstacles in your way? From 1st October 2004 organisations and businesses that provide a service to the public have to consider making changes to their premises or the way they provide their services to make sure they are not unreasonably difficult for disabled people to use. The Disability Rights Commission (DRC) is campaigning to make businesses and organisations aware of their responsibilities under the Disability Discrimination Act. To make sure businesses and organisations in your area are aware, we need your help. We want you to encourage them to start making changes to become more accessible, and to explain that they don't have to go bankrupt trying! Your story can make a difference The Disability Rights Commission (DRC) is running a campaign, Open 4 All, to make Britain's high streets, pubs, restaurants and leisure facilities more accessible to disabled people. We are always looking for stories to help us illustrate good and bad access for the local and national media. Would you like to share your experience with us?
You may have:
Alternatively, you may have particular shops and services that you think have got it right or changed the way they provide their service after you've spoken to them. If so, please tell us and help us put the need for better access in the spotlight. If you belong to a local access group, or know others who would be interested, please ask them to send us their stories as well. You could put an item in your group's next newsletter or email bulletin asking them to contact us.
You can contact us by email at:
|
|
When I finally accepted a wheelchair as part of my way of life I thought that an African Safari was out of the question until I read reviews, in a disability magazine, of two African Safari holidays suitable for wheelchair users. After a web site search we were attracted by the Endeavour product www.endeavour-safaris.com as it offered a true camping experience in the bush with the toilet and showering facilities ‘en suite’ in the tent so no nocturnal walks would be needed. Email contact via info@endeavour-safaris.com, provided the information needed and a list of ‘frequently asked questions’. The founder is an experienced safari guide and is committed to organising safaris for the disabled. Having made a reservation for their combined Botswana (7days) and Cape Town (4 days) Safari in September the next essential was to arrange travel insurance. This was not difficult for a couple of 65 year-olds, my FSHMD only added £39 for a years worldwide multi trip insurance, but you must declare all existing conditions and medications. We booked our flights to South Africa after searching for the best prices and confirmed our safari reservations by paying the deposit, and subsequent final payment, in Euros, via bank transfer. You need to take precautions against Malaria and we were recommended to take ‘Malarone’ as the least likely to have side effects. All this was organised months in advance which left plenty of time for second thoughts! I was not happy to take my electric wheelchair in case of damage so chose to take my manual chair as I had been assured that there was ample muscle power to push the chair onto the safari vehicle. In the event everything went perfectly, we were met at the airport (Maun) in Botswana and driven in a modified Toyota Land Cruiser to the Moremi Game Reserve which comprises ~ 5000 sq. km in the Okavango Delta. Some 20 miles north from the airport the paved road stopped and after letting the tyres down to half pressure for a more comfortable ride, we were on dirt (sand mainly) tracks, after another 20 miles we passed through the ‘Buffalo’ fence which stretches some 100 miles or more East and West to separate the domestic cattle in the South from the wild game in the North. Botswana’s second source of income is beef cattle (much of which comes to the UK) and the fence is to prevent the spread of diseases from the wild game. As no fence can stop an elephant, a double fence is so arranged that they and giraffes can step over it. After another 20 miles we checked in with the officials for entry to the game reserve proper and stopped for a picnic lunch. We saw various animals on the drive to our camp where we arrived at sunset, which made unpacking difficult! As promised, the beds and bathroom facilities were at a height suitable for wheelchair transfer and the entire tent was wheelchair accessible. We met the other Safari Guide and the two camp assistants, cook and general help. Sitting round the campfire (there was one every night and morning) with a glass of wine before a hot dinner under the spacious open sided dining tent was enchanting. Last, but not least, the night sky was magnificent, inky black with the stars bright and the milky way, something I have not seen in England since I was a child. The Southern Cross was something new for us but familiar constellations like Orion were also visible. This superb spectacle was there for us every night and could even be seen from the tent ‘windows’. The Okavango Delta, which contains the game reserve, is unusual in that it is an inland river delta. It was created by the same earth shift that created the Great Rift Valley in Africa. The result was that a main river flowing from Angola was blocked and the waters spread out forming the delta. The river waters mainly soak into the ground or evaporate, and being a delta, the land is mostly sand or clay washed down by the river. The ‘Bush’ in the reserve comprises sand and clay rich land with water pools that shrink and grow with the seasons from underground. We went as the dry season was coming to an end so there was water enough for the wild life. The Moremi Game reserve is totally unfenced and guns are not allowed so there is no walking in the bush as the animals have precedence! This means that both able and disabled are equal as to what they can do and see. The vehicle used for the game drives was adapted for wheelchairs and you can choose to sit in your w/chair or transfer to a comfortable seat with head rest. The tracks in the reserve are not paved so the ride is bumpy with very deep ruts. Mobile phones do not work there but the organisers have a satellite phone and GPS for emergencies plus a comprehensive medical kit (including oxygen) and puncture repair kit for wheelchair tyres. Acacia thorns are literally as hard as nails, one penetrated Joanna’s shoe sole and I found one buried deep in the sole of my trainers when I got home, fortunately the w/chair avoided them. If you take an electric wheelchair or other rechargeable devices they can be recharged from a generator when on safari. All the safari days began with a 6am wake up and breakfast followed by a game drive (with coffee break) and return for lunch about noon. After a siesta and shower we had tea (we took to ‘bush tea’ a non caffeine infusion) before leaving on the evening game drive about 4.30-5pm with a break at 6 pm to watch the sunset with ‘sundowners’ and nibbles! Then back to the campfire for dinner and that marvellous night sky. Bedtime was usually quite early, anytime from 9.30! After three nights the camp was moved to a site near the Khwai river where we were by a lake full of Hippos (and some crocodiles and elephants across a narrow strip of water) we slept to the sound of Hippos gently grunting and munching in the night. Absolutely magical! The two campsites we used are not open to casual campers and were only occupied by our group, they were chosen to be on firm ground for wheelchair use (much of the region is loose sand) but there was always help to move your chair anyway. Every day we saw different game, including Giraffe, Lion, Elephant, Warthogs, Zebra, Impala, Leopard, Cheetahs, Hippos, Crocodiles, Wild Dogs, Jackals, Wild Cats, Honey Badger, Kudu, Baboons, Wildebeest and much, much more, including beautiful bird life. We even had a couple of young male elephants bellowing and charging us but they backed off at the last moment (that photo had camera shake!). After the Botswana safari we flew down to Cape Town for the last four days where we were met by another guide and w/chair adapted vehicle. Here we stayed in a comfortable hotel (room w/chair accessible) and were taken out everyday to see the sights in and around Cape Town, (the first chance for shopping!) to the top of Table Mountain and down to the Cape of Good Hope and the more interesting Cape Point, the most southerly point where the Atlantic and Indian Oceans meet. Nearby we saw African Penguins and Ostriches. A visit to the Stellenbosch wine region for wine tasting with picnic lunch, which together with a National Park carpeted with wild flowers was another great day out. After a final evening meal at a restaurant with a Marimba band we were taken next day to the airport for our flight home. What did we take away with us? Photographs of course, but also memories of the sights, the silence and the sounds of the bush and its animals, the indescribably beautiful night sky and campfire evenings.
The package we booked included airport transfers, internal flights and all meals and accommodation. If any member would like more information you are welcome to contact me.
Martin Fielden |
|
Leg Supports
I would like to share with you some news about a new concept in foot/leg/ankle supports for everyone with FSH MD who may have difficulty with walking. I recently had an appointment with my neurologist, Dr. Hilton-Jones in Oxford. His resident physiotherapist, Jane Freebody, gave me a thorough examination relating to my progress with FSH. Luckily, I had maintained fairly good muscle strength, except in my walking, mainly attributed to foot drop in both feet. I had been wearing braces which were quite intrusive and often uncomfortable to wear for long periods. Jane Freebody suggested that I make an appointment with Mr. Askew at Dorset Orthopedic with a view to considering their new kind of orthoses for foot drop. My initial appointment with Mr. Askew was very informative and hopeful. Mr. Askew took such a personal interest and was both efficient and very personable. I decided to try the new orthoses and had a cast made. The new supports are made out of silicone, flesh coloured, soft to the touch and very comfortable. Two weeks later they were ready. They are proving to be very comfortable and so much better than the 'scaffolding' I had before. I hope that some members may also be able to benefit from Dorset Orthopedic and if you think you might be able to improve your walking with a new support, I encourage you to contact Dorset Orthopedic for a consultation. Here's to improved walking for us all.... Jane Rocco |
|
Research
I have been trying to get additional information on the myostatin trial that can be given to the general public. We are aware of this planned trial which is likely to take place early next year. This much was told to families at a recent conference of the Parent Project in the US but not much additional information was given at this time as far as I am aware. The difficulty is, and this is not to be disseminated, we are aware of centres in the UK that will be involved but they are not allowed to disclose this information at this stage and have had to sign confidentiality agreements. I have contacted the people involved and they have written to the Company requesting what information we can give out. I have been waiting for this response but to date have not had one. All that we can say at this stage is that the results in mice studies were positive and there was a paper recently of a young German boy who was born with mutations in the myostatin gene. He has abnormally large muscles for his age and so far has not developed any significant health problems but will need to be followed up over time. This demonstrates that blocking the action of myostatin in humans gives similar results to that observed in mice and gives hope of a therapeutic application. There was quite a lot of publicity in the UK on this, the BBC ran the story and I was approached by a journal for comment. If you want further information or specifics on this please let me know. In summary I would say: Whilst there is evidence to suggest that there might be a therapeutic benefit further research is needed to determine the effect of blocking the action of this protein. Early research suggests that blocking myostatin activates satellite cells to make new muscle. These satellite cells are like stem cells which, especially upon damage to muscle, have the ability to make new muscle cells. Certainly in Duchenne early in the disease process these cells are very active in producing new muscle as breakdown occurs. However as time goes by this supply of satellite cells appears to be depleted. There is therefore concern in a condition such as Duchenne that one might, by blocking the action of myostatin, significantly reduce this supply but this has not been fully studied. In FSHD the disease process is not as rapid and this might not be as great an issue. However this newly formed muscle would still have the genetic mutation causing the disease and thus will also eventually break down. This would not be viewed as a cure but it could potentially slow down progression if successful. As far as Pax7 is concerned there is a lot of research looking at the potential of stem cells. Initially it was thought that only embryonic stem cells would have the potential to differentiate into many types of cells but, as this research suggests, there is evidence that adult stem cells have potential. There are different types of stem cells that have shown the ability to form new muscle, these include side population (SP) cells and mesangioblasts. However yet again, any stem cells derived from someone with muscular dystrophy would have the mutation causing the disorder and would eventually also break down. For therapeutic application one could isolate such cells, transfer a healthy copy of the gene and then grow them up in large amounts to put back into the individual. I have attached a research update on mesangioblasts that I wrote about a year ago which is relevant. Pax7 appears to activate stem cells to form new muscle cells in mice. In these experiments a Pax7 gene was inserted into stem cells using a viral vector. Rudnicki, the author of this research himself states that further research is needed before this is tried in humans and the cost of such trials is enormous. It would be easier in a sense to find a drug that was able to activate the Pax7 gene to produce more of the protein and the researchers may attempt this using drug screens. Jenny Versnel |
|
The national service framework (NSF) for long-term conditions is currently being developed with the aid of a wide range of stakeholder groups and is due to be published any time now. The aim of the NSF is to improve the lives of the many people who live with neurological and other long-term conditions by providing them with better health and social care services. Details are available on the Department of Health website at:
http://www.dh.gov.uk/PolicyAndGuidance/ |
I’d like to welcome you to the Winter/Spring 2005 newsletter of the Fascio Scapular Humeral MD Support Group which has once again been put together by Norman Jonas. We now have more than 300 members all over the UK, with family links to people all over the world, and new members regularly joining the group, as they find out about us.
This 5k. Fun Run is an annual event for women of all ages. Our team was a small family affair. Myself, my sister, Penny Horsburgh and Penny's two daughters, Kate and Claire. We had never participated in such an event before.
1st October 2004 marks a landmark for disabled people. From this date anyone who provides a service to the public will have to address physical features which are making it difficult for disabled people to use their services. This will mean that pubs, clubs, gyms, swimming pools, hospitals, restaurants, shops and many others will all have to make "reasonable adjustments" to their premises or the way they provide their services to ensure they are not unreasonably difficult for disabled people to use.
