Video Interviews: Public Awareness

About this clip: Public Awareness and Understanding.

Six people talk about how they have come to terms with living with a genetic condition and how this has affected their lives. They also discuss what, if any, information was available at the time of their diagnosis and how that information has improved since.

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The Transcript:

Public Awareness and Understanding

The Doctors did put me in touch with the Tubular Sclerosis Association and they have been fantastic. Since we have been in touch with them, they have sent us lots of information, encouraged us to get in touch with them, encouraged us to become active in the TSA and I must say that the TSA, since I've had TS, has played a big role in my life, as has the Genetic Alliance UK. I am always interested to see what they are up to and the progress that has been made in this area.

If I was told that the person beside me had tubular sclerosis and that they had just been diagnosed. First of all I would say get involved with the TSA, start talking to other people, start finding out what you can about your condition and I'd also say know what you can and as much as you can about your condition. If doctors sort of write you off with big long medical words then ask, keep asking "What does that mean?"

Find out all the information you can, the TSA, or whatever genetic condition you've got should be able to provide, jump on the internet start sending off for this material and if you have questions, ask. You become the expert. You know what's going on.

I was diagnosed at birth because my brother had already been confirmed to be a haemophiliac in the 1950's. There wasn't any treatment and my mother would not have been given very much information at all in those days. She would have had it explained by the consultant slightly and that would have been about it. Whereas today if someone is newly diagnosed a consultant will then refer that person probably to the Haemophilia Society. One of the main reasons for the Haemophilia Society to exist is education and also put people in contact with other haemophiliacs and parents in the region and a lot of information will be done by networking these days.

If you ask, had we ever heard of this disease Progressive Supranuclear Palsy, the answer must be a very clear no - and I think very few other people would have known about it. It is in common with quite a large number of strange medical sounding diseases in the neurological field of Multiple Systems Atrophy, Progressive Supranuclear Palsy, Cortico Basal Ganglionic Degeneration they are all very difficult names and I think very few people in the public know them.

We were so appalled by the lack of knowledge and the lack of information about this disease that we felt that with the encouragement of some influential friends that we could set up our own association or charity to be involved in this disease.

The PSP Association was set up in April 1994 with the aim of, well three aims really. One was promotion of the research, promotion of the sponsorship of research worldwide. The second was to provide information and support to afflicted families initially across the UK and then in Europe and our third objective was to engender a greater awareness of the disease. This has almost become our absolute top priority because if you go out on the street and ask anyone what they know about Progressive Supranuclear Palsy their answer will almost certainly be nothing.

I think how you get information probably varies from person to person. When Laura was born she was diagnosed at three and a half months. I had no genetic information at all because I was adopted, so it came as a big shock. I didn't know I was a carrier I had never even heard of cystic fibrosis. I knew there was a charity the CF Trust and I contacted them and their information was very good, it gave me a very good understanding of what was involved and really from then on it was down to me to go out and find what needed to be done and what was the prognosis. Was there going to be a future for her? Because I was basically told that I would be lucky if she reached five. Being stubborn I thought well damn that, this is not going to happen to my child, if I can find out what's available, what's going to be good for her then that might help.

I think I have always transferred the knowledge that I have from Laura, she was always up to date. I felt that it was very important, not to give her too much information because that would have been difficult for her grasp, but to give her a basic knowledge of what her condition was. To tell her why she had to take the drugs and why it was so important that I literally had to bash her three times a day as a baby for the physiotherapy and why other people weren't having this. That yes she was special and that she had got this, but if we did these things then she was going to be fine she was going be able to carry on and the fact that she is here today and is contemplating a future I think is down to that.

We are from a very close family, on both sides of both the families and they have been very supportive and obviously they have been quite, not horrified but quite astounded by the condition and the complexities of it. Through the association we try and promote the condition as much as we can because so many people have never even heard of it and it's very common about 1 in 2,500 people are affected by it. It's nearly as common as cystic fibrosis and so it's very very common. What a lot of people don't appreciate is that once you've got the condition there is a 50/50 chance of passing it on but any person having a child can have what they call a spontaneous mutation. This is a new mutation which creates a problem gene, giving rise to the condition, so it can conflict any family, anywhere, at anytime.

I think I really want to get across the awareness that's the thing. Our experience in the early days was really pretty grim. I think awareness of Rett Syndrome is extremely important and that's why we wanted to do this today to make people aware of the condition and perhaps to promote, if not cure then at least assistance and help.

I think the most important things for parents early on is to get a diagnosis and then as soon as possible after that to get support. I think our worst experience was in the early days because thirty years ago very little was known and we had no support whatsoever and that was very isolating. I think for parents now there have been huge improvements and they have now been able to get an earlier diagnosis and better support, better help, which makes a huge difference.

Making contact with other Rett families was so important because up until then I think we felt really entirely alone and that we were coping with something that we didn't fully understand ourselves and no-one else we knew had ever come across this. We were just trying our best to bring Susie up as part of a family, with two other normal children and to make life as normal as possible for everyone in the family. To find that there were families in exactly the same position was just a revelation. It helped enormously to give us the knowledge that we needed to help cope with all the difficulties that we had every day, the management problems, the illnesses, just the day to day coping with a child who is profoundly handicapped. Having that communication with other parents and the other girls just made life totally different.