Does anyone have any experience of Tuberous Sclerosis?

[kando]

Just found out that dd1 (5) has a defective gene which causes Tuberous Sclerosis. She has other symptoms too - epilepsy (absence seizures - controlled by medication, but this was the catalyst to further tests), patches on her skin and on her brain. In all other aspects of her development she's great - very bright and eager to learn. However, when I asked the genetic doctor if dd might get worse as she gets older, he said he couldn't say as he couldn't predict the future (we live in Holland where people are very forthright!). I'm now worrying that although dd1 is great at the moment, later on things could all go wrong. There are so many variances of the condition and I've looked it up on the net, but can't find anything which discusses any progression of the condition. Does anyone have any experience of TS they might be able to share with me? DH and I now have to be tested to see if either of us has the condition.

kando, I don't know anyone with TS in my day to day life but I used to do some research on it and have been at events where lots of TS people were present. It's true that you do get some people whose condition worsens with age (particularly if the epilepsy is very severe- like multiple bad fits every day), but many, many people who have it as a very stable condition. I know you have to take it a day at a time, and there are no guarantees, but there's a very good chance she could continue to be absolutely fine. I do hope so.

Sorry, I can't believe I write TS people. I meant people with TS

Thanks ladies. We're under the care of a very nice neurologist here, but to be honest the different departments and hospitals don't really seem to communicate with each other - no-one could tell me whether the the results of her tests would all be held on the same files, or even in the same hospital! Just seems very disorganised! We haven't been introduced to any epilepsy specialist nurses (or any kind of epilepsy specialist - it all seems quite general under the term of neurology, if you see what I mean). DD had to have lots of different tests, and the only one where we've had a definitive answer was the genetics one with the diagnosis of TS. I mentioned this to the genetics doctor we saw and he said he would talk to dd's neurologist today, as these things are co-ordinated by her so should be dealt with by her. I'm not really "concerned" about her epilepsy as it's under control with her meds. We know she has "patches" on her brain, and white patches on her skin, but I don't know if they are likely to cause problems for her - no-one here seems able to tell me! Perhaps I need to be a bit more forthright, like the Dutch, to find out what I need to know! Not sure if my rambling makes sense to anyone, but it's nice to be able to get it off my chest. Very irrationally, I know, I feel as if I've somehow let DD down by not knowing enough about what might happen to her.

I realise that you are in Holland but you may want to look anyway at the this UK based website for TS:-

www.tuberous-sclerosis.org

here
don't know if this forum might be able to help

kando, I guess the problem with the growths on the brain is that how badly they affect a given individual will depend on exactly where they are and how big they are, so it's very difficult to extrapolate from one person to the next. I know that most of the people I've encountered who have been badly affected had been badly affected by fits all along, so I do think it's good news that she's reached 5 and is doing fine. There are also huge strides forward being made in understanding the function of the gene, so you never know what will emerge in terms of treatment in the next decade or so.

Thanks for those links - I have had a quick look but will look more closely when I have a bit of quiet time.

Kando are you still around? my friends niece has this, she is 5 now.

I am actually going to a TS charity ball on Friday.