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I am hoping to find matching surnames and so trace connections though families and I am backed by the Neurology Department of the hospital I attend. My theory is that many with FSH could be descendants of the Broadhurst family, traced back to first records in the 16th century in Prestbury, Cheshire. The family spread out throughout England, America and Canada in the 18th & 19th centuries so most people will not know they have a Broadhurst connection as names will have changed with the female lines. All you have to do is let me know surnames of parents, grandparents etc. (as far back as you can go) from the affected side of the family, or both sides if you have no known history in your immediate forebears (as I didn't have when I first learned of my condition three years ago. Any information of any kind will be helpful, such as where you all have lived, type of work done, family anecdotes, etc. Please contact me on 0113 268 0272 Barbara Taylor |
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Diana honour for outstanding pupil Teenager David Pearce has become one of the first in the country to receive a Diana, Princess of Wales, Memorial Award for Young people. The national award signed by Education Secretary David Blunkett was instigated to recognise outstanding achievement by young people. David 17, received his award following nomination by his schoolmates at Bideford College and letters of commendation from his teachers. It was presented to him by vice-chairman of governors Sheila Bloomfield at the annual Bideford College presentation evening at the Lenwood Country Club. David also received the local Lloyds TSB Bank award for special endeavour from the Bideford bank's senior manager Mark Sargent. Despite the disablement caused by muscular dystrophy and the treatment this requires, David has continued his studies at Bideford College to gain GCSE passes in business studies, science, mathematics, English, technology and sociology. He has now gone on to the North Devon College to undertake a Gateway course in information technology, mathematics and English. Bideford College principal Roland Chant praised the way David had battled on and said the school was very proud indeed. Most of us moan when the slightest thing goes wrong, but with all his difficulties David has never moaned - and that really shuts us up, he said. The Diana award recognises people who really need saluting. This sort of award recognises all achievements and it puts into perspective some of the other awards that people get.
The above article and photograph are reproduced with the kind permission of |
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Experience of Alternative Therapies I am a fifty eight year old female diagnosed with inherited Muscular Dystrophy in January 1991. In the spring of 1997 I started to fall when walking around the fields and was collapsing at the waist when walking uphill. I became unable to carry out manual tasks such as loading the wheel barrow when mucking out the horses. I could manage to lift items from the ground but found it impossible to lift anything with my arms extended in front of me, even a cup and saucer was too much. Stairs were also a problem as I had to pull myself up. Anything that necessitated my head coming in front of the vertical like cleaning my teeth, hoovering, working at the sink - became impossible without collapsing forward. I had to give up gardening as I was unable to support my head. When getting out of bed or a chair I had to stand for a few seconds before moving and even then I was unable to walk in a straight line. My balance was very poor. I developed a rolling motion to make walking easier, my riding suffered as I was unable to get on and off my horse without help. I became very depressed, had no confidence and felt suicidal, having been told that conventional medicine could not help and that FSH would be progressive. I was given elbow crutches and a neck brace that was made for me. I also bought a back brace and although they helped it was in desperation that I turned to alternative medicine. I started going to reflexology. This improved my circulation and helped with my chilblains, which I always used to get in the winter. It also helped to keep cold and flu at bay and gives an early warning of anything that is out of sorts. It also gives me a feel good factor and causes me to relax. I found Shiatsu was very relaxing and helped me get my shoulder back for a while. I had in all nine sessions. I also tried homeopathy which was helpful with depression and chilblains. Kinesiology got me off my crutches, restored my balance and dealt with the food intolerances that I developed. I also found that it helped with depression.. In November 1998 I met Jo Radley who practices Structural Integration known as "Rolfing". This actually changes the structure of the body as it works on the connective tissue. The very first session restored my balance, my back was virtually straight and I have been taught to how walk properly again. My hips are no longer forward with my shoulders behind the vertical, I am no longer flat footed and can walk up hills again without collapsing forward. My circulation improved. My crutches and neck brace were no longer needed after a few weeks and I can get out of bed or chair and walk away without hesitation. My energy level is so much better, standing up and cleaning my teeth is no longer a problem. I visit Jo every 3 to 4 weeks when I feel the need as I have a way to go yet. Structural Integration has made such a difference, I feel I am getting my life back. The above was written over 2 years ago. As FSH is an on going problem I am certainly getting weaker, my muscles are dissolving away and my body is quite determined to screw itself up. I visit Jo every three or four months or when I feel It is necessary to get my body straightened out. The weather plays a major part in how I am. I have few problems in the hot dry weather but the cold damp weather makes everything very difficult. I also find that stress and tiredness has a detrimental effect and I no longer dive or ski, but we still have the animals and I still compete with my horse. For the last 15 months I have been having Acupuncture, the first year I went every week and I am now going monthly. This has relieved my back and neck which had become very stiff. Last year was the first year in my life when I was completely clear of chilblains. I am still going to Reflexology once a week. I have now had 4 years of living my life the way I would like, which if I had followed the advice given by conventional medicine I would not have had. It is still a struggle but I have found Alternative Therapies have greatly improved my quality of life and have given me the confidence to carry on fighting the disease. Ann Bissel |
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Scapular Fixation Hi, my name is David, but you can call me Dave. I was diagnosed with FSH-MD at the age of four but I think I had it since the age of three. I started to notice myself getting weaker in the early secondary school years. Probably year eight. The weakness started on my upper body and later in year eight my right foot started to drop. Now both of my legs are weak and on my right leg I know wear a splint and on my left I just wear an ankle support, the splint and ankle support are to stop my feet from dropping. I can find it hard to walk long distances too. On July 20th 2000 I had an operation on my right shoulder. I went to The Royal Devon and Exeter Hospital (Wonford) England on July 19th and came out of hospital on July 26th. I had my right shoulder blade fused to the back of my ribcage. The surgeons took bone grafts from the back left side of my pelvis. This was to fuse my shoulder blade to the back of my ribs. To do this, they had to drill holes through my shoulder blade - wires were put through the holes and wrapped around my ribs, with bone grafts in place too, to hold my shoulder blade to the back of my ribs. The operation took around two and a half hours and I was in hospital for a week. On the day of the operation, I didn't feel much pain; probably due to the morphine which made me sleepy for the day. On July 21st, the day after my operation, I was in a lot more pain and discomfort. My bone graft hurt more than my shoulder did. This was because of the anaesthetic wearing off. As the days went on, the pain slowly went away; the painkillers helped a lot. I had to wear a splint to hold my arm in place for 9 weeks; this was to make sure that the shoulder blade fused to the back of the ribs. Two months after I came out of hospital I had my splint taken off and was given a sling to wear for a few weeks. My surgeons, parents, physiotherapist and I think the operation was very successful; although it was painful, it was well worth it as I now have much greater mobility and control of my right arm. In Spring or Summer 2001, or maybe winter - I don't know yet - I will have the same operation done on my left shoulder. This operation has really helped, well l'm not fully over it yet but I can lift my arm up now which I could not do before that well. I just wanted to tell you about myself, and guess what, I know two more people with FSH and their names are David and one of them has just had the same operation as me – now what are the chances in that? I'm going to meet David who has just had the operation, so that will be cool. Dave Pearce I was diagnosed at 50 (now 57) with total body myistosis, a terminal MD. In Leicester I was told there is no cure and that they did not want to see me. I felt abandoned. The Doctor told my husband and myself to go home and enjoy life. I contacted the MD Family Care Officer who advised me to go to Oxford to The Radcliffe Hospital where I was told it was FSH, yes there is no cure but there is a great deal of help . Winsford Nuremuscular Centre referred me to a specialist hospital a long distance from where we live. It has transformed my day to day life. Because I also have Ostio arthritis in my neck, hands lower back and my two conditions overlap. They gave me a headmaster collar to hold my unstable neck. Feet braces, night splints for my hands a cushion that lifts the left side of my body up to be level, also advice on a lot of things. I have a metal plate fixed in my lower spine. For about six months we have been at stalemate with the Leceistershire NHS. I had powered wheelchair assistance at the NHS centre and they gave me their bog standard powerchair. After a few months however it was not really suitable, we asked the Wheelchair Association centre if they could upgrade as with my neck being unstable and the pain in my lower back I needed more comfort and support. Their answer was very limited adaptation could be done, and we could have vouchers towards a more suitable chair. If I wanted a manual chair yes, in other words if you are more disabled and cannot use your shoulders and arms you are being penalised. We are taking our case through the channels. The next step is conciliation, but in effect we have got nowhere. Tony Lee Chief Executive Director at the Muscular Dystrophy Campaign has been in touch and someone from the MDC will go with us for conciliation, and if that fails he will help us with our MP. He feels we have been badly treated and it might help other people in the future. I cannot give enough praise to the MDC both Tony Lee and our Family Care Officer, Julie Cassell . Julie came to my home while the OT from Social Services came to sort out equipment I needed. I also cannot fault our Social Services on helping me get what they call specials i.e. a bath chair which lowers and raises and lays me down in the bath, a bedraiser, a hoist, a one off toilet seat. They were brilliant and while we moan when quite rightly things go wrong, we should also give praise where it works well. Another point I would like to tell you about is a friend of mine in Staffordshire with FSH had to have a medical for SD allowance, the Doctor who examined her had never heard of women having MD, words fail me!! This is a lady Doctor employed by Semma - has anyone else had problems like this? What worries me is I have a wonderful husband and a close family, but lots of people are on their own, money may be tight and they have not the energy to get the benefits they need or the help they deserve. I am also lucky in the fact my two sons have not got FSH. When I was diagnosed my older son Simon and Sarah his wife were expecting their first baby, we were greatly relieved that they were okay. One last point, some people are a little shy of people in wheelchairs, so I have a teddy bear velcroed to the side of my powerchair, it works wonders, people smile talk about the bear. I have met lots of people in wheelchairs. While most are friendly you do find a few who give a negative image of us, I find a smile goes a long way and you feel so much better. Please if anyone else is having problems with the wheelchair services, I would love to hear from you and anyone with FSH and Ostio Arthritis to share information. Joyce Bartlett joyce_bartlett@hotmail.com My name is Maxine. I am 28 years old and have a 7 year old son called Daniel. I was first diagnosed with FSH in 1994. I was admitted to the Neurological Ward at The Royal Preston Hospital for two weeks of tests. In English that means "torture" many needles, blood tests, a muscle biopsy and then I was told I was very lucky as FSH is a "nice" dystrophy to have. I will probably live to a normal age and it will only effect the top half of my body. Over the next five years or so I carried on as normal. But day to day living was getting harder. My arms became weaker and the "winging" became far more noticeable. I also noticed weakness in my neck nothing major, I just had problems putting my head back at the hairdressers. Then my legs – I found it hard to get out of the bath, stand from a low chair and get up from sitting on the floor. In summer last year, I began tripping up over nothing and having to concentrate on walking, something that comes so naturally was getting so hard. I also felt that walking any distances were becoming too much and I felt so tired. I began to get really worried as FSH only effects the top half of my body so it must be something more serious. In February this year I went back to my GP and he referred me back to a Neurology unit at my local hospital. On my way home I called into my local library and borrowed a book about Muscular Dystrophy. In here I found a helpline number and also read about an operation, which can help with lifting the arms up by a Scapular Fixation - at last - I hope! I was admitted again to the Royal Preston Hospital, again I had various tests and was also referred to an Orthopaedic Surgeon a Mr Bale. Whilst in hospital waiting to see the consultant Neurologist a senior house officer came to see me, she wanted to know what I can and cannot do. We started with the usual. Close your eyes, screw your face up, lift your arms up etc. etc. etc. Then it came to my legs. I was asked to do various tasks all of which I struggled with I told her the problems with my legs and felt I had another underlying problem. Apparently not, I was informed that the FSH had travelled South! But how? I thought FSH only effected the face, arms and shoulders not neck hands, feet, lips and legs. I thought this was a "nice Dystrophy". I had my meeting with the Orthopaedic surgeon which was great he was so positive, he knew people with FSH and he knew about Scapular Fixation but he did not do them, he assisted a Professor Frostick at Liverpool Hospital. Dr Bale referred me to see him. In June I want to Liverpool and met the surgeon, I discussed the benefits and risks of having a scapular fixation. We both agreed to the operation to take place. I should have the first arm done before Christmas and the second one done by next summer. For six years nothing happened, no one showed any interest at all and now in only five months everything is happening, both good and bad. I received my first FSH newsletter in July and have already met Helen Salter who wrote about her operation in the last newsletter. It was great to talk to someone who knows what you are going through and also to see the benefits Helen has from having had the operation, which made me all the more determined to have the operation done myself. After all that I do try hard to remain positive and also determined that FSH won't beat me and will fit in around my life and not the other way round. As for my son, he does not appear to have any muscle problems as yet, no facial weakness as I have always had. I could have Daniel tested for FSH but I do not feel I could deal with it at the moment I will just keep my fingers crossed. I would love to hear from any other FSH sufferers and also if anyone has had a Scapular fixation and if you have had it at Liverpool by Professor Frostick all the better. Maxine Scott I have been fortunate in being able to attend 3 or 4 meetings of the MD FSH support group. I have found as a third generation sufferer of FSH and with a son who also has FSH that these meetings are very important to me and I gain a lot from them. Often it is the chats during the breaks that are as rewarding and informative as the guest speakers. One subject which is touched on but rarely to any depth is that of feelings. With your indulgence I would like to explore this area in more depth based on my own experiences. We have all come to this point from different routes and a diversity of reasons. Some, like me, are part of generations of a family suffering with FSH, and even within that to varying degrees. Some are first generation sufferers having to come to terms with a revised lifestyle, others may be mature adults having slight weakness in certain areas, which upon further examination transpires to be more than just tiredness! Feelings are a deeply personal thing and often we do not want to share them with other people. During the meetings of the group we are there for a day out and it is probably inappropriate to bare our feelings as they can be very painful and distressing. However, we all must have them and I would like to try to give you mine with explanations which you may or may not equate with and may or may not understand, but knowing how other people are feeling can sometimes be of some comfort when you feel alone and isolated in your own feelings. I try to live my life as fully as possible and I try not to live it as a disabled person but as a person who has a disability. I cherish life and I gain immense pleasure from it. My feelings are not all consuming and are not with me very minute of every day, but when they do surface they can be very strong and very focused. A lot of the time these feelings of guilt, anger and frustration are suppressed. Sometimes this is a good thing and sometimes it only stores up more problems for the future. We need to be honest to ourselves about our feelings, we have them and we should not be ashamed of them. Counselling may help certain people with their feelings but I think that accepting that these feelings are natural under the circumstances is of far better use than discussing all the why’s and wherefore’s of why we have them in the first place. As I said at the beginning we all have our own feelings and they are very individual and personal but maybe by sharing some of my deeper feelings with you will give both of us some comfort, I do hope so. I believe that we have the ability to have as good a quality of life as possible. Part of this is to acknowledge our situation, try not to be engulfed by our feelings but accept that we are human we do hurt and we do feel pain as well as being able to smile, laugh and be happy. Also that others accept our need to have these feelings. Anonymous Rosemary Bryant, whose funeral service took place at Starbeck, was a well-known local figure in the Harrogate area whose pioneering work on disabled rights and access issues was nationally recognised and widely respected. She came to the area as a young mother, almost penniless, in 1971 and worked hard with her husband Keith to buy a house and start a new life in Harrogate. Diagnosed with FSH Muscular Dystrohpy in 1974, she vowed this debilitating disease would not stop her from working hard to support her family and help others. In 1988, she was diagnosed with breast cancer, but continued to work hard for Harrogate health care in a role she felt to be as useful as many of her previous charity positions. She was awarded the accolade of National Carer of the Year in 1988. In 1975 she became founder member and secretary of the Harrogate Disabled Income Group and in 1980 founded the Friday Friendship Club. At the same time she was also founder member and vice chair of the Claro Associations for Disabled People. She had begun studying courses in computers and telematics in 1999 and created her own Web site providing advice on wheelchairs to the public. She was studying with the Society of Homeopaths for her certificate when she died. In the autumn of 2000, she discovered the cancer had disseminated throughout her body and despite putting up brave and stubborn resistance, she died with her family around her on Sunday, December 17. It was raining the day Ron Newman and John Sullivan travelled to the heart of one of the main tourist attractions in London, the House of Lords for a special lunch. They were attending as representatives of 'On Your Wick'. On arrival they had to pass through various security checks. They felt very honoured being asked by the Leonard Cheshire Central Office to not only be guests but to give a representation on the Workability Scheme, being former students. They were able to network with all the other invitees from all over the country. The event was held in co-operation with Lord Laing of Duphail and the Workability current partnerships. Other companies were invited as guests the aim being to promote their interest and invite them to join the worthwhile scheme. The scheme affords disabled people opportunities to train and to develop new skills to obtain further training qualifications or employment. The host Lord Laing of Duphail made the welcoming speech. Charles Morland Chairman of Leonard Cheshire, mentioned in his speech the fact that since the Workability development a very short while ago, many disabled people have been through the scheme and are still continuing to do so today. He also said that it is known that disabled people take less time off employment than those who are able bodied. Ron Newman a graduate of the scheme, spoke about the new skills he had acquired and was using as part of his on going community activities. He was a recipient of a Millennium Award" and involved with the 'On Your Wick magazine editorial team. He said he would recommend the scheme to any disabled person aiming to return to employment. The lunch was served by waitresses, from a pre chosen menu . The view from the window was of the Millennium Wheel in the distance, the river Thames with its barges and small powered boats moving along its waters., They were privileged to be sitting with the host and the other speakers. They thought they were dreaming! 'No it was reality', in coming from Hackney Wick to the House of Lords on such a truly wonderful occasion. Praise was given to Ron Newman for his invaluable contribution, and the fact that he had helped make the occasion a success. Interest was received from the relevant parties targeted at the event, the aim is to visit one partnership that Community Link Up has worked with, that will be team of 'On Your Wick', in the not to distant future. If you know of a company or a provider that would like to help disabled people in their return to employment please write for more information to:- The Workability Team at: We would be grateful if you could mention on contact that you have seen the contribution made in the 'On Your Wick magazine'. Ron Newman In a recent letter to Lorraine Jonas I mentioned that I had spent six years studying for a degree with the Open University (February 1991-October 1996) I pointed out that if anyone connected with the FSH Muscular Dystrophy Support Group is thinking about embarking upon an OU course they could contact me for help or advice. Lorraine rang and persuaded me to write an article for the Newsletter. So here goes. I shall focus on my experiences and the tremendous help and support extended to me by the OU permanent staff, tutors, counsellors, students and voluntary helpers. Perhaps this article may, in some small way, encourage others with FSH, or indeed with any other disability, to take up the challenge. The first thing one learns about the Open University is that all-important word OPEN. You do not have to be a budding Einstein, a computer whizz kid or well-heeled. Entrance is on a 'first come, first served' basis and unwaged or low-income students could qualify for financial assistance by applying to the Financial Awards Committee. Fortunately, I only paid a nominal sum for my course fees and was able to borrow set books through the OU loan service. However, the OU is not a bottomless pit and financial help will depend upon the number of applicants and the amount of cash in the kitty. You are well advised when applying for entry to inform the OU of any disability so the staff and tutors can cater for your specific needs. All personal information is treated with confidentiality and even your name and address will not be released to other students without your written approval. I wish to point out here and now that you won't be handed your degree on a plate, nor do students spend all of their time glued to TV watching OU programmes. Depending upon the nature of your course you will receive course units, information about radio and television programmes, audio and video cassettes etc. You may also have to buy or borrow set books, attend tutorials and/or go to summer school for a week. I soon realised that I wasn't the only student burning the midnight oil while attempting to complete an essay or preparing for exams. Dedication and hard graft is essential but it can also be fun and rewarding. In mid 1990 I wrote to the OU for general information and applied for an Arts Foundation course and then a member of staff from the Regional Centre came to my home. She was part of the team dealing with students who had a disability and told me what the OU had to offer, answer questions and allay any possible fears. I attended an introductory meeting in October, received some of the course material in January, 1991, and started the course in February. It all happened so smoothly and quick that I didn't have time to have second thoughts. I had come full circle because tutorials were held in a former school building where I had begun my schooldays in February, 1942, when I was five years old. Mind there were a few noticeable changes. No outside toilets or air-raid shelters and the school-yard was now a car-park! There was a ramp for wheelchair users and a handrail for those with restricted mobility. Although some of the rooms were on the first floor climbing the stairs was surprisingly easy because the building had been designed for young children and therefore the handrails and risers were low. My tutor was only a telephone call away to answer any academic or physical problems. She always gave me help, advice and support whenever I asked. For example, she said "You will have to spend about twenty hours each week for study and completing assignments. Don't attempt to do it all in two or three days but spread the workload out more evenly". It was soon time to think about a week at summer school. Although compulsory, I could have been exempted on production of a medical certificate but my tutor pointed out the benefits of a full weeks study away from interruptions at home and that the OU would ensure I would get all the help and support required. I received a list of dates and venues of university campuses and information regarding those most suitable for a student with restricted mobility. So off I went to Stirling University, for a week in August, staying in a ground floor room in the students' hall of residence. My brother went as my 'Helper' and at meal times I found a table and he went to the front of the self-service queue. The OU will arrange a helper if required. I had a car parking permit and my brother helped me to carry books etc. to and from tutorials. He spent some of his time helping the OU background staff and thoroughly enjoyed his week's 'holiday'. I arrived at Stirling on the Saturday afternoon very tired after needlessly spending too much time in order to complete an assignment. By Wednesday I was absolutely shattered and, therefore, had to go to the Medical Centre. The doctor informed me that my blood pressure was very high and suggested to go home and take it easy. He was prepared to give me a medical certificate in order to qualify for attending a week at summer school. However, I decided to have a chat with one of the OU counsellors. She pointed out that if I returned home I would probably never want to have anything to do with the OU again, that the OU is supposed to be fun so why not treat the rest of the week as a holiday and only attend tutorials if I felt up to it. "Talk the options over with your brother and come back later and let me know what you decide". I decided to see the week out and took it easy and my tutors were all made aware of my position. With hindsight I shouldn't have attempted to burn the candle at both ends i.e. arriving tired, attending tutorials, lectures and joining in late night entertainment. The next big event was an exam in October. I was given extra time to complete the exam with a fifteen minute break when required. This and future exams were held at the OU Regional Centre at Gosforth, Newcastle upon Tyne, along with other students who had special needs. The exam results were announced just before Xmas and in February, 1992, it was back to the grind again. Due to having learned from previous mistakes, the second year went much more smoothly and this time I didn't have any problems at summer school. Over the six years I was always fortunate enough to take my first choice of courses. Namely, arts foundation, social science foundation, three second level social sciences and a third level arts/social science course 'Family and Community History'. Tutorials for the first two courses were held locally in Ashington, Northumberland, and the others at Newcastle upon Tyne. At the beginning of each course the tutor booked a ground floor room for tutorials. Students who have difficulty taking notes can, if they wish, have an assistant present to write their notes. Shortly after my 60th birthday in February, 1997, I attended my Graduation Ceremony at the City Hall, Newcastle upon Tyne, where I had a reserved seat at the front and assistance from designated OU graduates. I can now put BA after my name but I don't pretend it was easy. However, 'if I can do it so can you'! Colin Wanless Summary: FSHD is, in the majority of cases, an inherited disease that carries a 50% chance of having an affected child if one parent has the disorder. The full picture of the disease causing mechanism is not understood but we can accurately diagnose and offer expert management of the condition based on research over many years. Although there is no specific drug treatment or cure, various options are being explored.The genetic basis of FSHD: FSHD is caused by a deletion (loss) of a piece of DNA (genetic material) towards the end (telomere) of chromosome 4 (4q35). This area contains a number of repeated units of DNA (also called D4Z4). Normal individuals have between 10 and 100 of these repeats whereas FSHD individuals have less than 9, in general, the fewer the number of repeats, the more severe the condition. There do not appear to be any genes in this repeat area. It is thought that the function of these repeats may be to control the expression of genes lying outside this region and a deletion may alter this expression. This is referred to as a position effect. In normal individuals the DNA in this repeated area becomes very tightly condensed and in this state inhibits neighbouring genes from being expressed and the proteins produced from these genes are not made. The position effect theory has yet to be unequivocally proved so research into all aspects of the disease mechanism continues. There have been reports over the years, of genes (e.g.FGR1, FRG2) which are in close proximity to the repeat and may be involved in FSHD. This year there has been report of another possible candidate gene called TUBB4Q (beta-tubulin 4q) but at present none of these genes has been shown to play to role in FHSD. Homologues (similar genes) have been found in some animals indicating conservation through evolution and by studying these models we may gain insight into the function of these genes and their possible roles in the disease process. There is a similar area of repeated units on chromosome 10 and it has been found that there may be an exchange of these units between chromosome 4 and 10, which can complicate the diagnostic procedure. In normal individuals around 10% have these exchanges of genetic material between chromosomes 4 and 10 but in FSHD individuals the probability of this occurring increases several fold. What effect this has in the disease process is not clear. As the molecular basis of this disorder is still unclear, research continues to sequence a large region around the repeat to look for genes possibly involved. Another approach has been to look at tissue samples from normal and FSHD muscle to determine the expression of known muscle genes and their proteins to see if there are differences. All this may give clues as to the exact mechanism causing FSHD. Clinical trials: There have been clinical trials in the United states of America looking at drugs that may be of use in FSHD. One was a study on Albuterol that has been completed and the results have been analysed. There have also been several studies on the use of Creatine for neuromuscular disorders. Albuterol belongs to a group of drugs called beta-receptor agonists and is marketed for the treatment of asthma. An initial study performed with 15 adults showed a small increase in muscle strength on standardised measurements and an increase of approximately three pounds in lean body mass over the three month period. However, there was no control group in this study, which is imperative to evaluate the success of any drug. Modifications to the protocol were made, the size was increased to include 90 people, controls were added and it ran for a longer period of time. The trial ended in December 1999 and the data has subsequently been analysed. The results were as follows: 1. Individuals initially showed an improvement in strength for a period of approximately three months but this was not sustained. 2. After one year, and completion of the trial, there was no significant difference between those receiving albuterol and those receiving a placebo. 3. In conclusion, the use of albuterol in individuals with FSHD is not recommended. Creatine is an amino acid (building block of proteins) derived from food and then converted by the body into a compound called phosphocreatine, which acts as an energy store. In some neuromuscular disorders people have lower phosphocreatine levels than normal and studies have looked at the possibility of using creatine, which is classified as a food supplement, to increase these levels and look for benefits. In January this year the MDA in the US announced the start of a trial for a group of Duchenne patients who met certain criteria. There have been several trials in the past; most of which have not been properly designed, leading to confusing and conflicting results. Recent studies (one in mice and one in humans) in the USA, suggested possible benefits, and prompted renewed interest. These studies were however only short-term. New results from a larger and better-designed study in Sweden have not demonstrated any benefit from creatine. An optimal dosage has not been determined and there are suspicions that kidney damage can occur. Although it is something that can be bought over the counter, it is important not to take it until the risks and benefits have been properly assessed and measured against a control. The MDC does not, at this stage, feel the need to duplicate this research but will keep its members informed should any beneficial results become available. What does this mean for me now and in the future? Although we do not fully understand the disease mechanism in FSHD, advances made over the past years have led to accurate diagnosis and options when planning for a family. Women in the past have faced a difficult decision and prenatal diagnosis has been welcomed by some. If you have an accurate diagnosis you are aware of the typical symptoms and difficulties for that disorder, and this allows you to plan for the future. Each condition has specific features associated with it (in some cases these can be life threatening) and knowing this has vastly improved the management of conditions. Possible therapeutic options are being explored and as soon as there are results showing a beneficial effect you will be advised. November 2000 - Scientific Affairs Department. Reproduced by kind permission of Dr. Sarah Yates |
