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Any experience of Tuberous sclerosis

(9 Posts)
ynoopsssim Mon 29-Nov-10 18:01:10

just looking for anyone with children / experience of tuberous sclerosis. My unborn baby has been diagnosed and just looking for people to chat to really and more info on that challeges which you face daily. i look forward to hearing from someone....

SausageMonster Mon 29-Nov-10 18:10:47

Sorry no experience of TS. Did you have MRI as part of the DX?

Best wishes

ynoopsssim Mon 29-Nov-10 18:14:37

I have been offered one i 5 weeks as said babys brain would not show anything yet hmm feels like a long wait

SausageMonster Mon 29-Nov-10 18:33:34

Can't understand why they've diagnosed this before confirming it by an MRI scan. I understood TS to be a structural problem with the brain. They seem to be diagnosing something they cannot yet see confused

DS had MRI scan to rule out TS (and EEG to rule out elipepsy).

Sorry - hope someone else has more knowledge about it.

Best wishes

pinkorkid Mon 29-Nov-10 20:24:25

My cousin's son had tuberous sclerosis and while he was severely affected (learning difficulties, seizures, brain lesions), his father was so mildly affected he had no symptoms and only found out he had the condition after his son was diagnosed. So the impact on your life can vary enormously.

Early intervention can help with many of the symptoms so, although it will be a very anxious time for you until you find out how big an impact it will have on your child's life, it is better from the treatment point of view to find out early on.

There is a lot of useful information and an online forum here:

http://community.tuberous-sclerosis.org/.

I hope you find the help and support you need for you and your baby.

DJAngel Mon 29-Nov-10 22:17:29

I have a dd with TS who is now nearly 5. I'm presuming that an ultrasound scan picked up some tubers in the heart? I can't imagine how you're feeling right now , probably shocked, and you must have so many questions in your mind.

One of the things about TS is that it is very unpredictable at the early stages and it's really unclear how things will develop and in some ways that's one of the hardest things.. the uncertainty..

But I would suggest that you make contact with the TS Association in the UK as they have fantastic advisors/nurse specialists who will be really happy to talk through all your concerns that you've got right now.

Pinkorkid is right, that there is such a wide variation in severity and some people have the TS gene but no symptoms and others have very severe presentation.

Our dd has widespread multiple tubers in the brain and of course there are lots of implications from these.. DD also had heart tubers early on but these resolved as they usually do in the heart..

The important thing is to take on day at a time, and look after yourself..

Please feel free to ask away or to PM me if you'd like.. There are a couple of mothers who have kids with TS on this forum but there are not many of us around.. The TS forum in the UK is very slow and quiet but the US one is busier. It's early days yet though. Try if you can not to overload yourself with information.. I did that and quite quickly wished I hadn't.. it's hard not to go looking for info as a way of trying to understand what's happened..and to try to prepare for what's to come too..

I'm sure you'll get a lot of support from this forum over the months ahead..

Do take care..

crazymum53 Thu 02-Dec-10 14:31:43

Although this has come as a shock to you, I am surprised that the hospital has given you this diagnosis for your unborn baby without any further support or information. I am also surprised that they have made this diagnosis so quickly and would have thought further tests would be needed to confirm, especially when there is no family history.
Many people with TS are able to live normal lives and are only mildly affected whereas other can have severe problems. There are links to epilepsy and autism.
I have TS and was only diagnosed when my dd (aged 3 at the time) ended up in hospital after a seizure. I was then in my late 30s and had normal health. However, although she has epilepsy, the hospital is still unsure that my dd actually has TS as her MRI scan is normal.
So even with a family history am still unsure after 8 years whether or not my dd has TS or not.

I would second to get in touch with the TS association to find out more. I haven't heard of a baby being diagnosed before birth before - and am surprised at this.

Hope this helps

simplysurreal Thu 02-Dec-10 18:29:13

My DS who is 10 months has TSC. He was diagnosed after he started having partial complex seizures at 3.5 months, when they did an MRI and ECG and discovered growths on his brain and heart.

Although the future is unclear, his epilepsy is under control with medication and he has developed "normally" so far.

We were told by the cardiologist at GOSH that our DS should have been diagnosed in utero but because we live overseas (where they don't really do prenatal testing of any kind), it was not. From what I have read it is much more common to be able to diagnose early and if you read the US boards many of the children are diagnosed pre-birth.

This journey is still relatively new to us.

How far along are you in the pregnancy? How are you doing? Try not to read too much. It's exhausting and overwhelming to try to digest it all. The over riding thing that I find when I do try and read up on it, is that every case is different, so while you can read as much as you want you will never really get the answers you seek, you just have to try and remain as optimistic as possible.

One message that sticks in my head is "s/he is still the same little baby that s/he was before you had the diagnosis, just enjoy him/her". I try to do that as much as I can at the moment.

Take care, please feel free to PM me.

crazymum53 Fri 03-Dec-10 11:50:24

Sorry it looks as if my information might be outdated. Scanning technology must have improved a lot in the 8 years since I was diagnosed if they are now able to pick this up.

However testing for TS is still very much done on clinical signs of TS i.e. presence of tubers and there need to be 2 areas affected for diagnosis to be definite. With me the signs are a skin condition and tubers in my kidneys.

Genetic testing for TS is not routinely done in this country (it is in the US) and may not be accurate as there is more than one gene that may cause TS.

Some of the information about TS is very scary so I try not to spend too much time reading about it. However many people with TS have a relatively normal life and many of the problems associated with TS may not apply to your child.

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