February 1999 Newsletter

 

The Dews Family Experience.

"Our story begins in 1987 when our eldest son Matthew, who was two at the time, began having problems with his walking. We took him to see the Paediatric Consultant at Pinderfields General Hospital. She wasn't quite sure what the problem was; firstly we were told it was a brain tumour, then a lesion of the spine, and finally Cerebral Palsy. All these were eventually discounted by a C.A.T. scan, myliogram and various other tests the Hospital conducted.

By this time a great strain was being put on our relationship, and our marriage was starting to suffer because I couldn't come to terms with the fact that we might have a handicapped son. It was now four years since our initial visit to hospital. And there was still no firm diagnosis. By now our youngest son, Philip, was starting to show the same sort of walking problems: up on his toes, and feet turned in. He was unable to keep velcro-fastening shoes on. Or stand on his own two feet.

We went back to Pinderfields, to be told that it might be FSP, but she was not sure because she had not seen it before. At this point we asked for a second opinion, and this consultant told us that both boys had Achilles Tendon Syndrome. Unhappy with this diagnosis, we requested a further opinion, this time we were referred to the L.G.l. in Leeds, which once again failed to deliver a firm diagnosis.

In amongst all of this Mathew, and later Philip, were diagnosed as being Dyslexic to add to our tale of woe. Life bumbled along struggling with both school and hospital, but things came to a head when suddenly Mathew suffered severe pain which could not be controlled by conventional means.

Back yet again to ask for a referral to see Prof Anita Harding, only to be refused by our consultant. Our own doctor came to the rescue by speaking directly to Anita Harding, who agreed to see us. We were devastated to learn that Prof Harding had died some days before our scheduled meeting.

A few weeks later we saw Drs Nick Wood and Lucinda Carr. They confirmed that there was something wrong, and referred us to Prof Neville who was 99% sure that both boys had FSP but wanted to do more tests to rule anything else out. Later in the year Mathew was admitted to GOSH for an MRI scan, electrolysis tests and blood tests. These confirmed Prof Neville's original diagnosis of FSP. At last we had something to come to terms with; that same year we met with the support group for our first group meeting in London. It was good to be able to talk to other people who had had similar experiences to our own, and we also met Cathy White and we agreed to join her research group.

On returning back home we were given an article about Efalex, and its claim that it was beneficial to dyslexics. We decided to give it a shot as we didn't have anything to lose. In three months there was a definite improvement in the dyslexia - this being confirmed by both boys' dyslexia teachers. What we didn't realise until Kathy White came down to see us was that it was having a marked effect on the severity of the FSP. She reported that the boys were in far better condition than she would have expected at this stage, and the only explanation we could give her was that they were taking Efalex. Her recommendation was to keep taking the supplement, and her findings were confirmed at our yearly visit to the National. Mathew has to wear night splints, and Philip uses orthoses in his shoes, but their condition doesn't seem to be getting any worse at the moment.

Efalex is a propriety brand food supplement whose main ingredients are natural oils - fish, evening primrose and sunflower. I won't say it will work for everyone but it's worth a try!"

Editor's Note: Mr & Mrs Dews obtained Efalex on prescription from their GP. When I decided to try the 3 months experiment with my own family, my own GP informed me that fundholding GPs had discretionary powers to prescribe - or not to prescribe - the product. If your GP declines to prescribe Efalex, he may be willing to issue you with a VAT exemption certificate, enabling you to obtain the product direct from the manufacturers, at a discount. Regrettably, I have to report that there were no noticeable benefits to my children from taking Efalex.

Margaret Bicknell's Experience

Margaret wrote me a long and interesting letter recounting the sudden onset of physical pain, spasms and mobility difficulties following a road accident in which she was not actually hurt but very shaken. In continuous pain, she tried various doctors to find the root of the problem, explaining that her mother did have a walking difficulty but no pain, and her daughter has Cerebral Palsy Spastic Diaplegia. At this point the possibility of FSP was not considered. She writes, "These three years under the NHS, they have all got their heads together. Because they could not find the problem, I was just finished with, and they have said that it is all in the head, and I would be referred to a psychologist. I was then really angry." Margaret, who has been fit and sporty in her life, found this impossible to accept and continued her search for diagnosis. She landed up in Harley Street where she was diagnosed with FSP. She comments, "Not exactly the answer I have been waiting for for three years, but now at least I know. So I have to make the most of what I've got." Margaret was 48 at the time of the accident and the onset of FSP, which appear to have been two events entirely coincidental, but the one apparently masked the symptoms of the other. If this, or similar experiences seem familiar to the reader, be comforted that this is commonplace!

A variation on the same theme is the experience of Jill Hooper. Jill was diagnosed as having FSP 15 years ago. She has suffered abdominal problems for most of those years which had always been ascribed to FSP. But recent events have shown that her problems are gynaecological. Once again, and dangerously as well as debilitatingly in her case, FSP symptoms were masking another condition from accurate diagnosis.

The Genetic Interest Group

This umbrella group to which we belong has recently moved to:

Unit 4D
Leroy House
436 Essex Road
London N1 3QP

I have available for loan a resource pack from GIG 'for the brothers, sisters and parents of people with a genetic disorder.' Alternatively, you may purchase a copy direct from GIG.

Web Site Addresses...

Apparently I got my dots and dashes mixed up when I passed on the Geocities Web Site in the last Newsletter. It should have read:

www.geocities.com/HotSprings/Spa/2847

Other American web sites you might like to visit are:

Duke University Medical Centre at:

http://www2.mc.duke.edu/depts/medicinemedgen/fsp.html

Massachusetts General Hospital at:

http://www.mgh.harvard.edu/depts/molneur/diseases/mnu-fsp.html

And in Europe....

Tom Wahlig has started a German FSP Group. We wish Tom well with his endeavours, and if you would like to contact him, you can do so by e-mail to:

This email address is being protected from spambots. You need JavaScript enabled to view it.

Or visit his web-site at:

www.fsp-info.de

In France Philippe Grammont of L'ASL is producing a video on the subject of FSP, and in due course an English version will be available. In order to gain partial EC funding, our Group has leant support to the venture. We will let you know when it becomes available.

Some months ago I asked for your permission to release our Group Address List to Dr Andrew Crosby, who is leading research into FSP at St George's Hospital Medical School. The address list was passed on, and I know that many of you have been contacted, and many more would like to be! I am indebted to Dr Crosby for sending me the following article:

FSP at St George's

Here in the tropical climes of St George's Hospital, Tooting, we have a longstanding interest in the genetics of the so called 'Familial Spastic Paraplgias.' This term which may be abbreviated to 'FSP', is often misunderstood by the general public, but it simply means 'a stiffness of the legs that runs in families'. As some of you reading this will be aware, the leg stiffness is often particularly severe and is sometimes associated with other problems such as eye defects or learning difficulties.

What is the underlying cause of FSP? We know that FSP runs in families, so this suggests that it is genetic in origin. As the clinical aspects of FSP vary so much between many of the families, this suggests that several different genes may be responsible for the condition, rather than just a single gene. In other words, the type of FSP which runs in Family A could be due to a mistake that has occurred in a gene on one particular chromosome, while the type of FSP which runs in Family B is due to a mistake in a gene located on a completely different chromosome, and so on. Over the last few years, a number of different groups have shown that at least 7 different genes, located on different chromosomes, are all responsible for FSP. The number of families 'linked' to (i.e. caused by) mistakes in each of the 7 genes varies, but one of the genes alone seems to be responsible for about 40% of all FSP families. However, other experiments have told us that there are also other genes which we have yet to identify.

Uncovering the location of a gene (i.e. finding out which chromosome it is on) which causes FSP is only the first step in a complicated procedure known as gene isolation. Gene isolation simply means to 'identify (or 'clone') a gene that causes a genetic disorder.' You can perhaps appreciate how difficult gene isolation is if I tell you that we all have approximately 100,000 genes scattered across our chromosomes. In the case of FSP the ultimate goal of gene isolation is to clone the individual genes which are mutated in each family suffering with this condition. However, because the human genome is so incredibly vast, this process is perhaps analogous to finding a single spelling mistake on a single page of a single book on a single shelf in an entire library!

Over the years at St George's, we have collected blood samples from dozens and dozens of families with FSP. I feel it is important to stress that we use these samples only to locate the gene which causes the condition. No person will be told that they have the condition, will at some time get the condition, or even that they won't get the condition. Even if we wanted to offer this kind of facility (which at some point we obviously do!), we couldn't yet because the research is by no means advanced enough. We then use these blood samples to perform the first step of gene isolation. Our team is working to find the position of the as yet unknown genes responsible for FSP. Although it is still early days, I can tell you some interesting results - that we think we have found the location of one of the genes which is responsible for FSP in some families. We will then go on to try to locate the actual spelling mistakes in this gene in the near future. Similarly, we are also working hard to find other genes which cause FSP, and are making interesting progress here too! Of course once we have found the gene responsible for FSP, we can then do the real hard work - to deduce what the gene should do normally and how it has gone wrong. This then opens up the possibility of offering prenatal and postnatal testing for those who want it, and even the possibility of an effective treatment (one day!).

This is whyyour help is critical to our group and to other scientists working on this disorder. Without small blood samples donated by the family members, we are completely unable to find these elusive spelling mistakes and work out what has gone wrong. Thankfully however, the vast majority of families are hugely helpful in providing the dreaded blood samples for us. So needles ready - I shall be contacting you in the near future!!!!
A.C.
St George's Hospital, London.

Welfare Reform

The Government announced its plans for disability benefits reform on October 28th last year, by publishing its consultation paper A new contract for welfare: Support for disabled people.' If you would like more information, a free summary of the paper is available from:

Welfare Reform
Freepost (HA4441)
Hayes UB3 1 BR

1999 and all that...

At the beginning of the year the committee held a telephone meeting to discuss our plans for 1999. With 120 families on our mailing list (including our EC members and our professional associates), the Group remains in good shape. However we could benefit from some new blood (pardon the expression) in the committee, particularly someone to take over this Newsletter... A new editor would be provided with all sorts of incentives to get established, so please do get in touch if you feel you would like to become involved.

The committee is also looking into the viability of running a new survey of members. It was felt that such a survey would help everyone to directly identify fellow sufferers with whom they may wish to make contact.

Also we propose to increase the level of personal contact both formally and informally. To these ends we are hoping to increase the level of telephone contacts, and would like to float the idea of local meetings of members. Our address list shows pockets of members where there may be sufficient numbers to justify local gatherings. If you are interested in organising such an event, the Committee would welcome your help, and our funds will stretch to cover your out-of-pocket expenses. Please phone us if you are interested.

As if all this wasn't enough, we furthermore intend to run a national Annual General Meeting in Birmingham once again this year!!! Within the next few weeks I intend to contact professional speakers with a view to making a firm announcement in the May Newsletter. I have heard mutterings of Saturday 2nd October 1999 being put forward as a possible date.