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Points for Reflection

1. Read Karenís story (030) too. Their stories show such a huge impact Tuberous Sclerosis has had on their lives as individuals, a couple and as a family. If a family in your care were in a similar situation and had just learned about a similar condition, how would you help them manage with all of the information?

2. Why do you think some people may want as much information as possible, while others may feel they are Ďbombardedí.

Activities

How would you help a patient or family member to make sure they are comfortable with the amount of information they are receiving?

Tuberous sclerosis is inherited in an autosomal dominant pattern. Using the information provided by Mark and Karen and standard symbols, draw their family tree, indicating who is affected with tuberous sclerosis.

a. What are the features you would expect to observe in such a family tree that illustrates an autosomal dominant inheritance pattern?

b. How does this story illustrate some of the characteristic of a dominantly inherited genetic condition?

For further information on taking a family history and drawing a family tree see Gaff CL (2005) Identifying clients who might benefit from genetic services and information. Nursing Standard. 20, 1, 49-53.

3. Design a one page information leaflet about tuberous sclerosis for a junior colleague. Include the key facts and where they can go for further information.

Quotes

"...when itís your children itís really rather different."

"People will tell you things and often its like - ĎDo I really need to know what they are telling me now because Iím not really fully understanding it, and if I donít really need to know what they are telling me, you might as well stop because it's not going in anyway."

Further information

Tuberous Sclerosis Association UK website: http://www.tuberous-sclerosis.org/

Guyís and St Thomasí Hospital TS information sheets.

US National Library of Medicine, Genetics Home Reference: TS

UK National Library for Health, Genetic Conditions Specialist Library website: Autism briefing

Autistic spectrum disorder family information sheet from Great Ormond Street Hospital available to download and read online.

National Autistic Society: Diagnosis - a brief guide for health professionals

The National Society for Epilepsy: http://www.epilepsynse.org.uk/

Epilepsy Action: http://www.epilepsy.org.uk/index.html


Location: The Stories
Transcript

You can download the full transcript here

Family life with Tuberous Sclerosis: Markís story
A complex condition with autosomal dominant inheritance

Iíd like to thank you for coming to the interview today and wonder if you would just start off by telling me how did you find out about the condition in your family?

When my wife was first pregnant, her sister also found out she was pregnant but a few months advanced. And something was spotted on one of the scans and a test was done and this condition - tuberous sclerosis came up and we learned it was a genetic thing. Therefore other members of the family might have it, including my wife and sure enough that turned out to be the case. Prior to that we had never heard of it.

And how did this knowledge impact into your life?

Well at first we werenít really affected because you know, itís somebody elseís children. And then when itís your children itís really rather different. We knew that officially there was a 50/50 chance that your child could inherit this condition but even if the child did inherit it, it might be quite mild - as in my wifeís case because sheíd had it all her life and never known.

There had been some symptoms, but they werenít recognised as symptoms of TS. They were seen as a type of epilepsy for a little while and then it went away. So we thought even if our children do have this, maybe not all of them will and then if one of them does - it might be mild.

So when my son, James was born, he seemed, for the first two years of his life just to be a difficult sleeper and it wasnít really until the second or third year that symptoms started to crop up. I canít remember whether we had had him tested before all these symptoms but once they started to show themselves, then we had it confirmed that he definitely had TS and then it became very, very serious you know because we started to mix with people from the Tuberous Sclerosis Association and began to understand what this could mean.

And one of the things we learned was that it doesnít really matter what the symptoms are right now. It can change and it can change at the drop of a hat at any time of your life and the impact can be more or less devastating so we started to understand more and became, you know, your life just changes. Your life changes when you have children anyway. Donít know if you knew that?! But with extra complications, itís something else.

I just wonder if you would focus in on some of the experiences you have had of the care youíve had from the NHS and that can be either positive or negative.

Mostly positive. We have spent more than our fair share of time in hospitals you know with James and then with our daughter Chloe. James is our first child and he will be seven in January and TS affects him in a series of ways. And TS affects Chloe our second born in entirely different ways. Well not entirely different, but you know, itís just not the same at all. And as far as James has been concerned, our encounters with the NHS have always been helpful - and that goes with Chloe too.

One of the things is not everybodyís heard of Tuberous Sclerosis in fact very few people have heard of Tuberous Sclerosis so thereís that for a start you know. Itís not like 'Ah. Tuberous Sclerosis. We know how to treat this'. Not at all. So Jamesís condition has led us toÖ He really hasnít had as much involvement in hospitalsÖ But with one NHS team or another discussing and we had some very good help from a doctor who at that time when James was very young was at the hospital and he advised us early on about things, which sure enough have come to pass. But at the time we thought ĎHow bizarre, why would he think that the epilepsy is the least of Jamesís worries?í

But Jamesís involvement in various teams on various fronts with the NHS are because he has a whole series of difficulties. The tumours associated with TS in his case are on the brain. They could be on any internal organ but if they are on the brain, depending on where they are and how big they are how many there are of them, it will affect you in a zillion different ways. And as far as James is concerned, he has a learning disability which would be a problem on its own, a language disability which not many people fully understand and that would be a problem on its own. He has ADHD which can be a problem on its own. He has a type of epilepsy, and he is autistic and there might be another one. But you know, a cocktail of any two would be a problem you know. To have all five is a bit of a bad hand to have been dealt.

So we encounter lots of people who try to be helpful on different fronts and so on. As far as our daughter Chloe is concerned, entirely a different kettle of fish. She had a major tumour on the right side of her brain from before birth. She was having seizures ďin uteroĒ and immediately from birth, and having tried this medication, that medication at various levels, ultimately it was decided that an operation to remove the right-side of her brain was the only option.

So we went through with this and my experience of the NHS before all this was always very positive and I do generally have this blind faith that these people know what they are doing. So I tended to worry less about the operation that Chloe was going to have to undergo than my wife did because I tend to trust these people. Massive operation. Hugely complex as you can imagine you know. Brain surgery. Detaching and removing one half of the brain. Itís a massive injury in anybodyís book isnít it really.

The only thing that I could say on the downside was that she contracted meningitis in the hospital immediately after the operation, well six days I think and thatís down to infection control. Now I donít think anybody has really got a grip on infection control and I think that the organism that was responsible was MRSA. They didnít talk about it a lot but then again they wouldnít.

What about the experience of the genetic people for instance, specifically in relation to genetic nurses and genetic doctors. What about your experience there?

The genetic nurses. Do you know I donít know if we ever met one. Didnít know such an animal existed. Genetic doctors. I might be the wrong person to ask but I canít remember meeting one of them either. Weíve met lots of other doctors, specialists. Did any of them wear a badge saying genetic doctor? I donít know. Canít remember.

Iím talking about the people who actually informed you that it was a genetic condition.

Well that doctor was very informative. I canít remember what his job title was.

But did you feel like youíd got a lot of information?

Enough. Genetics - you know. You hear about it on the telly and its stuff that you inherit because itís in your genes. What does a gene look like, smell like, taste like? I donít know. Itís genetics isnít it. Itís a different world. I donít understand all that. Donít know how much we need to know you see. People will tell you things and often it's like - ĎDo I really need to know what they are telling me now because Iím not really fully understanding it, and if I donít really need to know what they are telling me, you might as well stop because it's not going in anywayí. The things we really need to know are what will have an impact, what you can do about it, how to avoid this situation. All that sort of stuff.

I tell you one of the thoughts that has recurred over and over again. It took us a long time and I know this is not unique. This is a pretty standard experience I think from other people that we talked to. It took a long time to have James diagnosed with a type of epilepsy. We knew by this time he had TS and we related to one doctor, canít remember her name. He was having a type of seizure and the reaction was ďWell what exactly do you mean?Ē Heís having a type of seizure. These are fits you know. ďOK. If you can get it on video - good.Ē So we did but it took a long time for this to be identified as a type of epilepsy. Now if you canít get this on video and itís difficult because this type of fit happened in the middle of the night. You are asleep and it's all hands on deck to find the camera, get the lights on and it might be over before you get time to capture it. And other stuff happens. Stuff happens when you are doing this that you might not actually capture it on film properly. Now if you havenít got a video camera you have no chance. So the thing is and we know that other people have encountered the problem, what exactly do you mean he is having fits? Well go on have one. That particular doctor said ďUntil we see it we canít possibly diagnose it as epilepsy.Ē And there are 35 different types or something you know. Loads.

Now Karen had a type of epilepsy, thatís my wife, when she was 13 or 14 and then it went away. Now there must be thousands of people out there who have a type of epilepsy and then it goes away and itís never even recognised. You know absences where thereís brain activity and you just sort of drift off and the teacher in the class doesnít see that itís happening. So this child and that child could both be having a type of brain seizure and itís never even recognised. And the thought occurred to me well you know these people who have a type of epilepsy or a type of dyslexia or a type of learning disability or a type of Ö If they are actually diagnosed as autism, thatís it. Thatís pretty much it. Oh epilepsy hereís the drug to treat that.

The question is never asked: ďIs this epilepsy on account of Tuberous Sclerosis?Ē There is a test that can be done but itís never done. So the official figure, Iím told is 1 in 8,000 people, 7,000 people have Tuberous Sclerosis. I wouldnít bet on it. Double it? Because you are scratching the surface really. I mean there could be zillions of people out there with Tuberous Sclerosis and it's not strong enough or serious enough for it to be recognised as any kind of condition or it manifests itself only as epilepsy or only as a learning disability or something. My question is how many people really have TS? Could be zillions and why donít they fix it. Why isnít there any money spent on the research to find a genetic cure for this. Am I rambling?

No this kind of goes onto the next question really. Which is how could we improve care for you and your family? Apart from obviously the research and that which you alluded to.

I donít know. Thereís research that goes on with TS and in the last couple of years there was a flurry of excitement that there might possibly be a cure having been found in a particular type of fungus on Easter Island or somewhere.

And my worry up until then has always been well if we do find a genetic cure for TS itís too late for our kids. Thereís nothing we can do. But nevertheless you work to raise the funds to get the research done and the cure to be found. But if there is a possibility that a cure for our children could be found or for anybody thatís currently got it before theyíre . . .

Not just the people who are yet to be born, then let's spend the money because how much does it cost not to cure it. It probably costs zillions so far to treat our kids and if we could fix it. Children in need. 23 million pounds a year spent on treating the symptoms of this or that. Just take 20 million of it and cure TS and save a lot of money.

Is there anything else you would like to add that you think is important to our project?

Whatís your project?

Itís to raise awareness of genetic conditions.

Conditions? Well OK. I donít know quite how you would do it. See because TS is complex and apparently itís changed its name officially a year or two ago from Tuberous Sclerosis to Tuberous Sclerosis Complex. Because itís so complex it manifests itself in so many different ways and any one of those could be affecting your family you know and you might not know itís down to TS. It worries me that maybe there are way, way, way more people who have TS. Weíve touched the tip of the iceberg of Tuberous Sclerosis and thereís more people out there have got it than we know.