Video Interviews: Research & Development
About this clip: Research and Development
Seven people discuss the treatment that is now available for their conditions. They also talk about how research is progressing in finding further treatments that could potentially lead to cures in the future.
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Research Development and the Future
I would like to see research developing to the point that if I was carrying a baby with TS in the future, it would not be a case of aborting that child or not. It would be a case of being able to treat the foetus from the start. To know immediately the test is done that this foetus has this sort of problem. Then, with whatever genetic test or progress was available, to be able to start treating the problem. In many cases a genetic test or progress might not be able to erase TS completely but if they could stop the severe affects of TS, such as autism and even early death in children who are severely affected by TS, it would help. If they can somehow attack the TS from the start and stop it getting any worse, for example brain tumours with TS children can develop and the idea is that, perhaps, if you can identify the potential for those in a foetus or a child so young, genetic progress could be fantastic and I would hope that that would happen.
The speed that research is going at these days I feel a cure is imminent, but when I actually say imminent I don't think of about a year or two years, I think more in the region of 10 - 20 years. Science has to expand and be tested but I do feel that my two girls who are carriers should never have to worry about passing the gene to their sons.
At the moment there is no effective treatment, no cure, not only for PSP but for many of these other related neuro-degenerative diseases but there is light at the end of the tunnel. There has been a lot of recent, really good research, for example the human genome. Various pieces of related work all give great hope that within the next 10 - 15 years many of these diseases may be treatable and maybe even cured. I think that there has been a lot of progress, particularly in the covert field of genetics, and the human genome. I mean we now know that in chromosome 17, the tau gene is the suspect gene and one of the variations of that gene is particularly implicit in this disease but there is still a lot of uncertainty among the researchers as to whether this is triggered off through the environment or whether it is the actual genetics that starts the disease. So, there is still a lot of work to be done and is being done in that area and it is of enormous concern to our families because of the issue of inheritance.
When Laura was diagnosed the CF gene had not even been found, it wasn't found until 1989 by the team in Toronto. I was told that the prognosis was that she really wouldn't live past five, that has all changed so dramatically. In Laura's life, she's sixteen now, she has got a future and a future to look forward to and that wasn't the case sixteen years ago it was quite grim. Genetic research, and research in general into cystic fibrosis is moving forward at such a pace that anybody that is being diagnosed today their future is so bright, there is so much hope for the future. The main thing we have got to do, is fight for - as parents of children with genetic conditions or people themselves with the condition is - the right to receive the treatments that are being developed through that research. There is a lot of controversy about the use of the transgenic animals that are used, but at the end of the day it comes down to the fact that these people are dying and they need those animals at the moment until alternatives are found. They need to live, they need to be given that chance live and the chance to have a better quality of life and if it's down to the patient or a few mice I know which way I'd go and I think most people feel the same.
Research into cystic fibrosis is very important, it's crucial that new treatments are found, and they are being found and hopefully one day there will be a cure it's just a case of waiting and so it's not that far away. Anyone who thinks that research is wrong, animal testing in medical research. I suggest you come and spend a week in my shoes and see what it's like.
The funding issue of research. Many charities obviously raise a great deal of funds directed towards research, including the NF Association which put some money into research in conjunction with Cancer Research UK. They're looking at cell malformations but obviously an awful lot more money is needed for this purpose and whilst individuals can raise a certain amount I honestly believe that the government can do a great deal more. I am led to believe that in America the whole genetics field, particularly the NF Association, is supported a great deal more than they are in this country. We are a relatively young charity, as NF has only been identified in the last twenty years or so. It needs an awful lot of money in, not only in research, but also providing family support workers so that many families don't feel so isolated. I think that's the greatest shock when you have a child diagnosed with the condition, is that you feel very much on your own, you're not sure which way to turn. We were fortunate enough that the NF Association was there for us to give us that support along with the doctors and the specialists. We, as a family, have been very fortunate everything seems to have fallen into place, fortunately for us. We speak to some families and you can understand their frustrations, in that they go from pillar to post, from hospital to hospital and possibly don't get the support they need, which is totally different to our experiences.
Two things that I really hope to see; first of all, I hope that the genetic research goes on at a pace, so that we can really see improvements in these little girls, that really to all intents and purposes are born normally and then regress after a period of one to two years. If we could then find that there was some sort of, not cure but genetic possibility of therapy, then perhaps these little girls would not be trapped as they are in their own little bodies. They would have some better hope for the future because it really is a devastating condition. It takes away all their chance for a normal life.
I'd hope for that, and I'd also hope for improvements in care, in residential care, in nursing care. As the girls get older, they are living longer, Susie's now 31 and we are in our retirement stage now and we are at the stage where we thinking, what will happen to Susie when we can't care for her any longer and there is a great shortage of nursing homes and residential homes. They are very expensive, they are very scarce and the ones that are good are very often full so I would hope for improvements in that field as well.