Newsletter 5
June 2000

A time of change

May I start by saying "thank you" to all our members who were able to attend the FSH conference in Birmingham last October, it is always refreshing to meet new members and continue our friendship with existing members

The day was a great success. The first speaker was Nicky Thompson MSc MCSP who is an Occupational Physiotherapist involved with patients with neuromuscular conditions. The second speaker was Tony Lee, Executive Director of the Muscular Dystrophy Campaign. The third speaker was Dr Richard Orrell Senior Lecturer and Consultant Neurologist at The Royal Free Hospital, London. The fourth speaker was Carol Morgan, Regional Director for the Muscular Dystrophy Campaign. We all felt that we benefited from the information imparted to us from our speakers. We can mail you a copy of the minutes if required.

Our chairman Gordon Nutter, who has held this position for three years, wishes to hand over the Chair. He has proved to be a highly dedicated and motivated Chair and we shall be sorry to Iose him. Dr Martin Fielden has expressed his willingness to take on this role, but if you wish to nominate another candidate please feel free to do so.

I am delighted to report that we now have over two hundred members, growing on a weekly basis.

I have been very encouraged by our members who have formed local groups that meet on regular basis. Please keep us informed of your activties.

Please remember we need to spread the word about FSH. There is a lot of ignorance out there.

We have a very informative and user friendly brochure, newsletter and website together with a support group willing to help.

The only way this can be achieved is by targeting hospitals, G.P's and physiotherapist units.

It is up to you, our members. to help us achieve this goal.

Lorraine Jonas


which-doctor.co.uk

The new website search directory to help you find a doctor with a particular skill, service or research interest, anywhere in the UK.

website: www.which-doctor.co.uk/
email: info@which-doctor.co.uk


Chairman's Message

It has been a privilege to speak to so many of you during 1999 and I send all our members my best wishes for the New Year. My hope for the New Millennium, and particularly for the first decade, is that research will quickly unlock new discoveries about Muscular Dystrophy (especially FSH and that A cure will soon be found.

Before this happens, them is much we can do to help ourselves.

Facilities provided by the NHS for genetic testing and diagnosis appear to be reasonable and improving. However, after the initial diagnosis. the level of care and support offered by the NHS leaves much to be desired

Having to cope with FSH is bad enough, but when other health problems occur the burden quickly increases. It is to prevent this situation arising that our GP's can be of considerable help by undertaking regular preventative heath checks for those of us with the condition even though our GP's knowledge of FSH may be limited. To assist both ourselves and our GP's, my aim is that, as a group, we produce a support pack.

The Support pack would include a copy of the health check list together with the FSH MD "Twenty three questions answered" leaflet.

We would be responsible for giving this pack to our GP's who would then decide which Items on the checklist can be dealt with within the local Health Centre and which items need to be referred to a hospital clinic (unfortunately not all of us have access to a Muscle Centre).

At present the draft list includes the following checks.

  • Blood Pressure
  • Blood sugar
  • Circulation
  • Cholesterol level
  • Diet
  • Eyes (retinal vessels)
  • Facial exercise
  • Heart
  • Hearing loss
  • Muscle strengthening techniques
  • Respiratory system
  • Weight

I am sum that there are others to be added and I need to draw on your experiences to make the list really comprehensive. My experience with GP's is that the clearer the request the better the response. Please telephone or write to let me know what needs to be added to the list together with any other useful comments you may have.

In addition, the Muscular Dystrophy Campaign is aware of the significant benefits in producing a list of experts / specialists for al MD conditions and I hope that progress will be made with this early in 2000

Gordon Nutter


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LETTERS

Dear FSH Support Group

In the interesting letter from Penny Horsburgh in the February 1999 issue, she mentioned that the mernbers of her family had blood tests to check whether they had FSH or not, and I have read in other articles too that some families do follow this course.

I asked to have a hood test last year, although my condition had been diagnosed by the various other tests done. I wanted to have it recorded in case it was ever needed for future family research. As I'm retired and my finances are as fixed as they ever will be the geneticist went ahead. However he advised that the rest of my family (younger sister and certainly nephew) should never have one done unless they had obvious restricting symptoms because of the ever increasing risk of mortgage and insurance companies refusing to deal with anyone with any potentially serious condition.

He pointed out that some people have FSH so mildly that it will never affect their lives yet if a blood test comes through as positive, it wil have to be entered on any form with possible devastating results.

I thought this wise advice to pass on to you all. Sincere good wishes.

Elspeth B Taylor


Government Review of Wheelchairs

The Government is currently conducting an independent evaluation of the way in which the NHS supplies powered wheelchairs and how effective the wheelchair voucher scheme has been. As soon as the report is published emPOWER will respond in full and we will report accordingly. In response to a Parliamentary Question from Mark Oaten MP on 23rd July 1999, the Minister stated that the York Health Economics Consortium has concluded its evaluation of the powered wheelchair and uoucher scheme initiatives. The Consortium's report has now been received by the Depanment. It will be made available to the public after it has been considered by Ministers.

Funding for EPIOCs (Electronically Powered Indoor Outdoor Chairs)

emPOWER has had the first indication that the ring-fenced money provoded for the supply of EPIOC wheelchairs by Trurts will not continue after next April. In a letter from John Hutton MP dated 6tn October 1999 to John Gunnell MP, John Hutton says "On the question of funding we always intended that the provision of EPIOCs should be phased in gradually and in due course become an integral part of the service on offer locally. From next year the additinal funding will be provided to all health authorities on a recurrent basis as part of their total budgets. It is for indivdual authorities to decide how much af the funds available to them they allocate to the different services for which they are responsible".

emPOWER is very concerned that not enough money is currently available to provide EPIOCs and that big waiting lists are developing all over the country. In fact, some centres are not even assessing people for the provision of an EPIOC.

The Empowering Partnerships Consortium which includes the National Wheelchair Managers Forum, NHS Supplies, emPOWER, BHTA and the Department of Health will be holding a second wheelchair conference in October 2000.

Meanwhile, concerned users are still awaiting the publicatian of the York Health Economics Consortium's Report into the wheelchair voucher scheme and the provision of EPIOC's.

For further details visit emPOWER on their website: www.empowernet.org.

Gordon Nutter (with thanks to emPower)


A Walk Of Life
Linda Horsfall's sponsored walk

Loving Parents plan a walk of life

Linda Horsfall and her family A Kettlethorpe couple whose teenage daughter has contracted a rare form of muscular dystrophy are planning a sponsored walk to raise money for a national support group.

Linda and Brian Horsfall will be tackling 30 miles - a third of the Dales Way - in a bid to gather in £600 for the FSH Muscular Dystrophy support group. Daughter Zara will join them for the last seven miles on June 25.

Fourteen-year-old Zara only learned a few months ago that she had the muscle-wasting disease which has already affected one side of her face so she can't smile properly; her shoulders and pelvis are weak preventing her from joining in sports actvities. She has to have physiotheapy treatment every month.

"It was a traumatic discovely but the Support Group have been marvellous", said Linda, because it is such a rare form of the disease members of the support group live all over the country, but we are in contact by telephone and a regular news sheet is sent out."

The couple who have another daughter, 9-year-old Bethany, have already been promised £350 in sponsorship, mainly from members of their church, Kettlethorpe Baptists, and teachers at Zara's school, Kettlethorpe High, have donated money.

The cash will be used to buy pin badges to highlight the work of the support group.

This article and photograph have been reproduced with the kind permission of the Yorkshire Weekly Newspaper Group


Linda's Story

I first decided to do a walk for the FSH Support Group in a moment of madness, not realising at the time just what it would involve. If I had known how hard walking 30 miles would be I don't imagine I would have moved fmm my sofa. The decision to go ahead was made easier once I had talked to Norman at the group, as he had been looking for some way to raise money to produce pin badges for future fund raising. The church I belong to had also indicated that they would be willing to back us all the way as Zara my daughter, who was diagnosed with FSH, was seen as part of their family and she was also going to walk the last 7 miles with us.

The walk itsef took place on the last weekend of May 99 and the church was as good as their word and we raised over £400 towards the badges. The pain of that weekend, like childbirth is now mostly forgotten, so much so that I may consider doing something similar in the future. I was very happy when I heard that the badges had been made and that the order forms were going to be sent out to members soon. I would encourage any of you out there who have their own moments of madness to go for it as it is very rewarding, when it is over to feel that something you have done may make a difference.

Linda Horsfall


Badges, Badges, Badges!

We are very proud of our group member Linda Horsfall who walked 30 miles last in order to raise over £450 for the Support Group - well done Linda!

FSH Badge At our Conference last October it was agreed that we should use these funds to produce pin badges of the Group's logo and that we should sell these for £l.00 each, to raise further funds for research into FSH-MD.

The badges have now been produced and we now need you to sell as many as you can to your friends, family members and work colleagues. Please contact us if you would like to sell some of these badges.


Family Quest

During the first confused hours after being given the news that I had FSH, I remembered the specialist saying "inherited - what about parents, aunts/uncles? - what about sisters/brother? - what about children?" My answers had been "fine" to all. My children were adopted anyway.

Then I remembered a cousin whom I had not seen or heard of for years (the younger daughter of my fafher's brother) who was diagnosed as having a debilitating muscular disease when she was a WAF in the early 1940s. I was a little girl but my mother's distress at the news made a big impression on me. My aunt became an object of pity, not only because of the worry of having a handicapped daughter, but because it was believed she had passed it on. Many years later this cousin's daughter married and as she had the same condition, decided to be sterilised. No-one appeared to have considered that my cousin's son could have inherited the FSH or that it might not have come from my aunt but my uncle, with implications for my own family. My mother would have been devastated had she lived long enough to learn the truth.

My aunt died, and then my mother, and with them the source of family news. Now, however I felt compelled to get in touch though it took weeks before I was able to do so for I knew that confirmation of the name of her conditon would mean I realy did have FSH too, and the little flickering hope that the specialist could be wrong (as I was still awaiting tests) woud be in vain. Eventually I rang my eldest cousin who confirmed that her sister, neice and nephew had FSH and that the nephew's middle son had been affected since early childhood.

We discused whether it could have been handed dawn by our grandfather, George Pearson who died in his fifties "as a result of drink" or his wife, our grandmother Ada Broadhurst, Who led an active life and was a dedicated gardener until her mid eighties. My father and his brother lived into their seventies, leading normal lives and enjoying their golf.

I was intrigued, and havng just received my first copy of "TARGET md" decided to put an advertisement in under "Contacts wanted" as follows:

"Barbara, recently diagnosed FSH in middle age, finding a cousin and family with same condition, seeks BROADHURSTS or PEARSONS (probably originating Cheshire) who have similar experience. Would be interested to find familiy history."

I did not consider that there was more than a remote chance of hearing from anyone. My cousin's family preferred to ignore the condition and I realised that there might be more people out there who felt the same and therefore would not see the magazine.

Imagine my astonishment and delight when the answer to my guery arrived within days of publication in the form of a christmas card from Stan Morgan of Skelmersdale Lancershire. His mother was one of a family of eight Broadhursts, four of whom had proven FSH in a mild form and two of whom passed it down to their decendents, including Stan who had been diagnosed whilst doing his National Service.

We have now spoken many times on the phone, letters have passed to and fro and we met for an enioyable lunch earier this year.

Commencing with a little informaton given in the past by my mother I started investigating my family history and discovered that my great, great grandfather William, was born about 1779 in Great Sankey, Warrington, Lancashire. Stan's grandfather, charles, was born about 1872 In Liverpool and as it is known that a branhn of the Great Sankey Broadhursts moved to Liverpool at some stage in the past, it must be that there was a family connection in Great Sankey in the 18th Century and that this gene was around before 1779 when William was born. Therefore the relationship between Stan and myself must be very distant but it is chilling to realise how powerful the FSH gene is.

It is known that there were Broadhursts in the Great Sankey area from 1729 or earlier, though I have not yet been able to connect William with a particular family. Famliy branches spread out from there not only locally and through the British Isles, but all over the world, and we must assume that FSH will have spread with them travelling also under many different surnames, through all the female lines. However the source of most of my family information, a Broadhurst living in Warrington researching the distant past family history for an author in Hawaii, had not come across mention of it previously.

In my immediate family line daughters married a Hepherd (maybe Shepherd) a Hollingsworth and a Sixsmith. I have not yet followed up the other descendents of the ten children of my great, great, great grandparents or the eight children of my great, great grandparents.

Whether we will ever discover more about the past history of FSH in our family is unlikely, but Stan and I will not rest until we find the connection between our branches. However this quest has became increasingly compelling as we are discovering a family saga far more fascinating than any novel or biography because it is ours!

Elspeth B Taylor


Thank You...

Thank you to everyone who agreed to participate in the Quality of Life in Adult Neuromuscular Disease postal questionaire recently sent by Kelly Vincent of King's College Hospital.

The questionaire was designed to assess which areas of life are affected by sufferers of muscle conditions.

The results will enable doctors to have a greater understanding of the problems caused by muscle disease and will assist them in working towards care that is more effective and treatment to meet the needs of individuals.

I will keep you informed of the results.

Lorraine Jonas


The Health of our Genes

"There is a real challenge to use advances in human genetics to improve human health" said professor Kay Davies as she outlined the opportunities and signposted some of the potential pitfalls.

The impact has already been felt in the area of prenatal diagnosis of inherited diseases such as the blood disorder thalassaemia, the muscle wasting disease muscular dystrophy, and the lung disorder cystic fibrosis.

Identifying the causative gene not only makes it possible to screen for inherited diseases; it is the first step in understanding the disorder. Once the effect of the gene is known, this can provide targets for new drug treatments, to block or enhance the effect. It could also pave the way to gene therapy in which patients receive a 'normal' copy of a gene to take on or over-ride the function of the defective one.

Genetics is different from any other sort of medicine. "It will enable us to tackle the root cause of disease, providing very specific treatments," said Professor Davies.

It will also be possible to treat some diseases preclinically, that is before any symptoms occur. For example, once the genes that predispose to heart disease are known those who carry them could take preventative action, modifying their lifestyle. to minimise the risk.

Another breakthrough will come in the area of pharmacogenomics, in which rather than a one drug-fits-all approach, drugs will be tailored to suit patient sub-groups This promises to reduce side effects and make medicines more effective.

Conversely, there are some diseases for example Alzheimer's, that are considered to be a single disease, but where in fact, there are different types of the illness. Genetic analysis will make it possible to distinguish between these sub types and offer targeted treatments.

Nor are these developments a long way off. A gene-profiling machine currently under development will be able to compile an individual's complete genetic makeup in 15 minutes.

The ability to screen in this way will improve healthcare. But it also raises issues such as whether a genetic predisposition to a disease would lead to exclusion from health insurance, or if an employer should be told if an employee's genetic make up puts him or her at risk of a heart attack at 50.

by Professor Kay Davies
Reprinted from Insight October 1999