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Points for Reflection

1. This story describes numerous visits to hospitals for procedures and clinics. Karen describes a scenario of meeting the clinical staff beforehand to discuss management and special needs issues. Do you think this is a good idea?

2. Discuss what could be covered in such talks and how your role in this could make a positive difference to the hospital visit

Activities

1. How would you manage the episodes of epilepsy?

2. How would you manage the ADHD and autism?

Quotes

"We donít have a normal family."

"We are just totally and utterly focused around the children, which most families are I know, but every minute of every day."

"I feel because Iíve got the condition, sometimes I think itís my fault the children are like they are, you know. Perhaps I shouldnít have had them, but didnít know enough about it then and you can go on and on and on in hindsight."

"...this is the girl who struggled at school, who was shy, wouldnít speak out - stood there and lectured these seven doctors on this condition and I was very proud of myself but those sort of things worry me."

Further information

TS Association website: http://www.tuberous-sclerosis.org/The TS Association provides information and support for families affected by TS.

Guyís and St Thomasí Hospital TS information sheet.

US National Library of Medicine, Genetics Home Reference website: Tuberous sclerosis

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

Great Ormond Street Hospital autistic spectrum disorder family information sheet to download or read online

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


Location: The Stories
Transcript

You can download the full transcript here

Family life with Tuberous Sclerosis: Karenís story
A motherís account of some of the challenges associated with this autosomal dominant condition

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

It first came about, my sisterís little boy who is now 7, when she was pregnant with him she had a minor bleed...Went into hospital, they did a scan and they discovered he had some sort of tumour on his heart but she was only 30 weeks pregnant. They said it could be a cardiac tumour or a rhabdomyoma which is linked to tuberous sclerosis and until he was born they couldnít say -which it was, but he was born reasonably OK. The tumour was very close to the valve in his heart and if it had grown any furtherÖ you know. But he was OK.

They then said it was tuberous sclerosis. They offered myself - because I was pregnant myself - and my sister a brain scan which is what we had and they also took blood from us, all three of us, my nephew, my sister and myselfÖ sent it away for genetic screening. But they more or less were certain it was tuberous sclerosis and on doing the brain scans, yes we all had tumours on the brain.

So there was a lot of investigation around Peter, my sisterís little boy and so on. Thereís six months between them, so I was heavily pregnant, already heavily pregnant but nothing was really done as regards my son James when he was born. Most of the genetic link was discussed by the three of us, my sister and her little boy.

James my son, was born very early which is not anything to do with the tuberous sclerosis. I had pre-eclampsia so he was only 2 lb 12Ö So a lot of emphasis around this little baby, fussed and spoilt and we never really lookedÖ I didnít want to look for tuberous sclerosis in him. We hadnít got a diagnosis and I think he was probably,Ö well he must have been having seizures long before we noticed them. But by the time he was - I think about 15 months old, he was starting to have seizures through the day. But then, still in touch with geneticists and they were saying ĎWell letís concentrate on the epilepsy rather than the tuberous sclerosisí.

Time went by. I was pregnant again and they decided - the geneticists really, wanted me to investigate further to make sure whether the unborn baby had tuberous sclerosis or not. I was a bit reluctant because I was already pregnant and that was how it was going.

Jamesís behaviour started to increase a little bit. He was getting a bit more difficult behaviour and harder to handle. His seizures were about 30 seconds long and mainly at night. He was having about seven a night and on videoing them and seeing the neurologist and so on we finally put him on medication. And medication would go in slowly and come out slowly and there was all that sort of stuff going on.

They did the amniocentesis and the deeper tests to find out whether my unborn baby had it and they also took blood from James which was sent away again. But by the time I got my results back I was already 22 weeks pregnant with my daughter, Chloe. I didnít feel I could terminate because they couldnít tell me how severe she would be. She could have been like Iíve been most of my life reasonably OK so we continued with the pregnancy very worried and very unsure of what was going to happen.

And then Chloe was born and she was fitting constantly. Every 5 minutes she was having a seizure and they were quite difficult to control and took a long time coming over here to this hospital.

We had talked about, from the beginning, it was offered, that she could have brain surgery, but they would like to go down the route of medication first. So James was on medication with quite severe behavioural difficulties and learning difficulties. So all this was going on with the two of them.

And finally by the time she was 17 months old we had done the medication to death. Every medication you could think of... [We] got her seizures down to control by 60 fits a day which was considerably less than what she was having when she was born. So they offered us the brain surgery, which of course was the next natural step really because we couldnít do anything else for her. Her quality of life was very poor, so she had half of her brain removed - right hemispherectomy and they pretty much disconnected the main part from the right side of her brain and thankfully it stopped those seizuresÖ obviously because theyíve taken that bit of the brain away.

She is starting to increase now with some absences from the other side of the brain so we have sort of taken her medication out but we are having to add it back in. So Chloe has a weakness down one side [of her body] and she is doing an awful lot better than she was. Sheís coming on a treat but sheís, you know, obviously a long way to go yet. Sheís bum shuffling. She walks with help, but a lot of help she needs yet. She doesnít speak. She does an odd few words so we are sort of just battling through. Whatís the next stepÖ

Jamesís a different case altogether. Heís autistic, ADHD. He has epilepsy. He has learning disability, language disorder, so heís got a whole complex package going on. So you hear of all these drugs for ADHD, we have tried them but thatís only a tiny percentage of whatís wrong with James. So we are not seeing any real effects on anything. So he seems to be very sensitive to medications which I think his anti epileptic medication has increased his behaviour problems - but itís a balance. Do you have the seizures or do you have the behaviour? So thatís about how it all came about really.

Just getting back to the point where you were pregnant with both your children and having these kind of tests, what kind of way was that handled by the geneticists?

Well the geneticists, I now understand why they were so keen for me to have a lot of the tests but all I could see is ĎIím having a baby. Iím not going to do anything about that. Weíll deal with what comes when it comesíÖ Sort of thing. And I also had the outlook of my sister and I had gone through life pretty much not knowing about tuberous sclerosis. I was trouble at school I had difficulties and maybe, if weíd known about it things might have been different. But I couldnít see if from their point of view at first, but they handled it very well but they were just very keen, said if you know what we are dealing with when the baby arrives, everything will be in place.

I suppose itís the not knowing about it. I mean they told us as much as possible. I mean we had lots of meeting with the geneticists and they were very, very good and they did offer way before things got sort of terrible, you can have a termination at 10 weeks. Well, you know, nothing was happening then. My son James wasnít particularly bad then he just wouldnít go away sort of thing. And going back and even knowing what I know now I donít think Iíd, well I wouldnít have terminated because she is a wonderful little girl. But, that suddenly being told you can terminate your pregnancy - when youíve never wanted to terminate a pregnancyÖ I would never dream of thinking about, and I didnít want to have to make a decision like that. That was the hard part. It was just suddenly giving you a decision that you were starting to think about and you didnít want to think about it. It was horrible really. But that was the least of our worries. Now we know because things are a lot more difficult and weíve had to make a lot more difficult decisions along the way and probably to come.

And do you get the offer of support from any of the genetic nurses?

We are on a research programme I donít know if youíve heard of TS2000 study. Itís basically put in place so that they can find out the links because there are families that just have suddenly one case where nobody else in the family has got it at all and this one case perks up. Or like my family. Weíve obviously had it all our life, didnít know about it and in our case our children are a lot more severely affected than we were. So they repeat all the tests, all the brain scans, all the kidney scans. They do all the tests regularly on a regular basis and they have psychologists do psychology tests on them so theyíre basically finding how itís progressing. So theyíve got information then for families like myself, first time out. Theyíve got more information to tell us. But I would imagine itís very difficult to tell the all what we know now. If somebody told me what we know now I would have been in an absolute state. I guess have to break it in slowly as and when you need to know, I guess, otherwise you would just do away with yourself Iím sure.

In what way has it affected your marriage?

Completely. We donít have a normal family. Basically it has ended up now with me having Chloe and the problems she has had. With James being slightly autistic, he likes routine. So when I was going off to hospital for one thing and another with Chloe. Daddy suddenly became the carer and Daddy to him is what is always there. He doesnít sleep very well so Daddy actually sleeps with him. So Daddy is his concrete thing that stays. Mummy is just there just to do the things she is supposed to do. Telling you not to do things. So that separated us now. Itís alright, my husband Mark is the main carer for James and Iím the main carer for Chloe and we canít just sit and read the paper and have any old thing on the telly. We canít canít take the children to the supermarket together like most families because it is too difficult Ė Chloe needs moving around and James is very mobile and he doesnít see danger at all so everything we do has to be as a family unit. My husband, Mark works from home, but you know itís a strain on his workload because in holidays he wants his daddy and stuff. We are just totally and utterly focused around the children, which most families are I know, but every minute of every day. Itís a strain, itís a pressure, itís Ė ĎIs he going to be ok? Is he going to explode? Is he going to be awake in five minutes? You eat your tea in five seconds flat because one of them is going to wake up. Itís pretty cruel, cruel condition and it totally and utterly takes over your life. Canít go on holiday, well you can, but itís very, very difficult.

Whatís been the experience and youíve alluded to this a bit from the NHS either positive or negative?

Very positive really. Iíve talked to a lot of families with varying different disabilities and they have had a tough time through medical, through support, through social services. Theyíve had to, well you have to fight for most things anyway. But no, medically theyíve been very, very good. The appointments are you know, around Chloeís surgery and everything was explained to us, everything was taken care of. The care we had was fantastic. I personally canít say Iíve had any real.

The only problem with the NHS side of things is now when we go to outpatients, they book four or five people in at the same time and inevitably they run late for one reason or another. And James canít wait. He canít cope with waiting and unorganised of people to-ing and fro-in so that would be... If they could sort of colour code his file to say right this child needs to be seen when he arrives Ė great, because he canít wait and itís extremely stressful for him and everybody concerned. But apart from that NHS have been great. Research, geneticists, everybody.

What about the nurses in particular?

Weíve had most of our experiences with Chloe and they have been very, very good. A bit more difficult with James because he is not a straightforward little boy. Heíd go in for routine operations and they seemed to say ĎWe deal with this all the time, we know what we are doing.í But they donít know James. And James is difficult. And weíve only got a small window in his calm co-operation and once that windowís gone, youíve got a very difficult little boy. Heís now nearly seven, heís getting bigger and harder to control. When he was little - scoop him up, he will do this. You could hold him down. But heís getting a big boy now. Heís very, very, very strong. So around that side of things they donít seem to have the understanding. Yes they must see a lot of difficult children. They must see a lot of ordinary children who kick off but because we deal with it 24 hours a day, we go to these situations we are extra tense and we are extra worried of how he is going to deal with it and sometimes they are a little bit insensitive around that area, but I guess theyíve got a lot of pressures too.

Is there any one particular experience that you can think of, either positive or negative?

Well the negative experience would be again like Jamesís situation. He had high riding testicles. He was having an operation for that. He had one when he was two although he was only a little boy. He came back from theatre and he was extremely distressed and we had gone through before he had gone to the theatre with the anaesthetist who was very nice and said Ďhe will need some sort of sedation when he comes back because he willí . . . He had a simple cut on his knee and he just digs at the cut until its really, really bad. It could have been just a simple graze but he makes it worse. He doesnít understand that heís making it worse. Itís hurting so heís scratching it. So I was worried he was going to be picking at stitches and things were going to be difficult and they were. He was really upset. There was three of us holding a two year old boy on the bed because he was hysterical and they said ĎThe anaesthetist canít give him anything else. Heís been to theatre.í and I said ĎThatís not what he said before. He said he would give him some morphine to calm him down. Just get the anaesthetist back.í And we ended up shouting because we were all holding this little boy down. He was very strong. And eventually he [the anaesthetist] came back, gave him some morphine and everything was fine but we had to do that battle and they were looking at us as if to say ĎWe know what we are doing.í This always happensÖ But it doesnít always happen. Iíve seen children come back from theatre and knowing what he was like it could have been an awful lot worse.

But positives, Chloe had fantastic care with her brain surgery. She unfortunately contracted meningitis the week after, which we were told was one of the risks really involved because thereís so many tubes coming out and things can get back in, but it was dealt with very, very quickly. I think it was around Easter time. The surgeon was actually on holiday. He actually came back and was on the phone a lotÖ So fantastic really around that. No grumbles whatsoever.

Just to ask you is there any way we could improve care for you and your family what would that be anything else?

Basically the outpatients appointments and as regards going in for surgery. If there was some way... The reason why I am saying this is because I actually spoke to a psychologist thatís been involved with James and he said he had come across a system where parents go in and talk to the nursing staff. I think with the psychologist or somebody from the team of care that they have in social services or whatever. And they talk to them about their children because every child is different even with the same condition.

Every child is so different. Talk to them about their experiences and what they are like and what makes them kick off and what doesnít make them kick off and actually having some sort of colour code on their file. So when that lands on the desk for going in for surgery or just on outpatients basis they then know they have a certain procedure, Iím not exactly sure of the full details of how it worked, that this child needs to be seen within a certain amount of time of arriving. Because if James arrives at an outpatient appointment, if heís seen within 5 or 10 minutes of arriving, itíll be a struggle whatever we do with him, he will kick, bump, fight - but itís done and dusted and we can be away. But once he has played with the books that he likes to line up, once he has done that you can feel him getting fed up and once heís gone - heís gone and youíve wasted your time waiting because he wonít be seen by the doctor because heís lost control. That sort of thing would be . .

It sounds like we are queue jumping but it's not. Itís just to limit the stress on everybody because we end up getting so worked up about it and I believe this way of working has worked very well in a particular hospital. Iím not exactly sure where it is. But that sort of thing, it might not be that, but something along those lines.

Just to get back you know you said this condition has been in the family, how has the knowledge affected your family?

Well obviously we are all devastated about it. Nobody can be blamed for the condition. But I feel because Iíve got the condition, sometimes I think itís my fault the children are like they are, you know. Perhaps I shouldnít have had them, but didnít know enough about it then and you can go on and on and on in hindsight. And so my Mumís answer to that is ĎHow do you think I feel. I didnít know my children had it you know and I tried to get you to do this that and the other and itís affected youí. You canít think about it like that because you can go round in circles but it has affected the whole family.

Everybodyís outlook on life right down to seeing a child shouting in the street. Years ago I would have thought ĎTut. Gosh, pick that child up.í But now you think that child might have something wrong with it. It does change your outlook on everything and on how you treat other people. I mean sometimes you get very peevish with friendís kids who are doing really, really well same age as James and Chloe. You get a bit spiteful really. Why are they doing so well and mine arenít. And I look at the families and think ĎYou are so luckyí - you know. Stop moaning about little silly things because you are so lucky. Youíve got healthy kids, they are doing well. It does make you very bitter, a bit. But you try not to dwell on that otherwise youíd get in a state.

Anything else you would like to add

I suppose thinking of our other experiences, there was an incident when Chloe was very small. Sheíd had a rash that needed to be checked. She stayed in overnight. Nothing to do with the tuberous sclerosis. I heard the ward rounds going round and it was the head doctor with six or seven student doctors. I heard them just outside the room. ĎThis is Chloe. Sheís been brought in with blah blah blah. She actually has tuberous sclerosis. Can anybody tell me anything about tuberous sclerosis?' One person said I think they have a facial rash with it, a nasty facial rash. Which is true. And somebody else said they have, I think he said there is some epilepsy involved. And thatís all the seven doctors knew about it. And they were in their final year and I was absolutely mortified. So much so when they arrived she [the doctor] started to talk to me about the condition and she said ĎActually probably mum could tell you better than I could about Chloe and I - this is the girl who struggled at school, who was shy, wouldnít speak out - stood there and lectured these seven doctors on this condition and I was very proud of myself but those sort of things worry me. Chloe broke her arm when she was small, her only good arm, as I sat on the settee she put her arm out and it cracked just above the elbow.

We went into hospital at A & E, and because sheís got tuberous sclerosis they panicked, didnít know what to give her and she said paracetamol will do it. She was screaming in pain and it was a good half hour before she got any paracetamol and in the end they gave her morphine but they are coming in with books and just utter panic. Sheís not got anythingÖ you know strange. Just give her some pain relief. And they didnít know what to do with her, didnít know where to put her, what ward to put her in because she had tuberous sclerosis and itís just the lack of knowledge around tuberous sclerosis.

I know everybody canít be experts on everything but people just donít seem to know about tuberous sclerosis and thatís what worries me you know. People not knowing enough about it. Thatís what bothers me about the medical profession really, not because they donít treat you very well, just the lack of knowledge around tuberous sclerosis.