Tubersous Sclerosis (TS)

In my family Tubersous Sclerosis (TS) came from my father to me, Adrian.

It is possible though to get it through genetic mutation on the first generation and some seventy per cent do get it by mutation.

Tuberous Sclerosis (TS) is a varied condition. It consists first of all of tuber shape growths on the brain which calcify with age and become hard or sclerotic. These will be found in a brain scan. The growths can also be in the skin, eyes, heart, kidneys and lungs.

In the skin white skin patches can be found on especially on the limbs and torso, perhaps from birth, and these do no harm. There may be red or brown 'birthmarks' on the face and with growing up a facial rash across the nose and cheeks, the redness becoming more bump-like with age. Nodules of skin can form around finger or toe-nails. I have a small nose rash area, nodules and black light (ultra-violet) found the tell tale white patches during examination in 1985.

Half of affected people have developmental/ learning problems. These can be mild or severe. I did not have any learning problem.

A high portion have epileptic fits due to the tubers in the brain, where early spasms either change into fits or seizures or cease altogether with growing up. I have never had any epileptic condition.

There is a possibility of levels of autism and hyperactivity but again I have had none of these. As a young child I did show high levels of concentration and a general calmness, but this was well within the bounds of normal behaviour. TS children often have short levels of concentration, resulting in a lack of learning. One problem is how in young children developmentally slow behaviour is merged with social judgements on behaviour, and so children take on what is called bad behaviour and issues arise over control and learnt bad behaviour reinforced by confused or ill-considered parental responses (eg "looking for a quiet life" and failing to reward good behaviour at times of relief).

In fact, having no active condition at all, it was believed I was free of it (that is effectively inherited the essentials of my mother's genes in these areas). I went to have this affirmed in Bath where there was research project at the University which included tracking of family trees as back as they could go. There is nothing for me to expect in the future either. I was told then I was like one in fifty tested people who have it, although over half of people with it lead ordinary intellectual lives (over 4000 of the 8000 who will have it in the UK), but of course I can pass it on with all the potential symptoms that do harm. I won't have any symptoms at all except some cosmetic effects.

About fifty per cent of TS sufferers are like this or slightly worse, being little or only mildly affected, in that they may have white patches, a facial rash, renal lesions, or even epilepsy, but they live normal lives and have a good quality of life. The other experience the cruelty of the condition.

Indeed I went on to pass my Ph.D and later an M.Phil, and it has no impact upon me except the consideration of children. It raises issues of abortions, but there is no adequate way to discover whether the unborn child has TS.

In my family history and understanding, Tuberous Sclerosis was once known as Epiloa, and as we go up the generations it becomes set in murky and secretive attitudes based around ignorance. Advice to me was to say nothing in public, but I always have done, because there is no alternative to openness as secrecy is harmful.

My relationship history has been very sparse. Although I have discussed it with potential partners, I cannot see whenever it has been responsible for a failure for a relationship to happen. I can though see the problem it poses for future relationships with people who know they have the condition.

In my view, knowing that a child could have a fifty percent chance of gaining Tuberous Sclerosis (an affected parent with an unaffected parent) means genetic counselling is vital and a strategy must be worked out before conception. Selective abortion comes into the calculation with no test for the severity of the condition.

If diagnosed with tuberous sclerosis, first of all the mutation for TS needs to be found. An existing blood sample for TS research may show this, or ask the general practioner for a referral to a regional genetic centre where a blood sample can be taken and sent to one of the two laboratories where this work is undertaken (Cardiff and Cambridge). With the mutation identified, an unborn baby can be tested, using chorionic villus sampling, a method of testing the envelope which protects and surrounds the fertilised egg, to see if it has the same mutation and therefore TS. If it does not have this mutation the baby is free of TS. If it does then a decision has to be taken perhaps regarding an abortion. (See below for specialist genetics work contacts regarding identifying mutations and genes.)

There is no way of knowing how severe the TS will be. Echocardiography is a test mid-pregnancy can show evidence of heart lesions through testing breathing difficulties, if there are lesions in the heart. Although a child might be virtually normal, and most will usually live a normal life-span (my first severely affected nephew did not, however), risking the severity of tuberous sclerosis is like playing Russian Roulette.

There is no cure, only management of symptoms. Epilepsy needs careful balanced control, with a hope for drugs tailored to the causes of brain dysfunctioning, and there are surgical operations for control in severe cases, and facial rash can be managed too (and treatment including minor surgery for lumps and bumps). Speech assistance and physiotherapy may be necessary. Informed health workers, social workers and doctors should give support, though sometimes resource agendas frustrate TS parents.

If this is of particular interest, then please visit the Tuberous Sclerosis Association Website (button below) and go on to make contact. Also donate.

Click for Tuberous Sclerosis website

The doctors undertaking mutations/ genetics work are:

Professor Julian Sampson
Institute of Medical Genetics
University of Wales College of Medicine
Heath Park

Dr John Yates
Department of Medical Genetics
Box 134
Addenbrooke's Hospital
Hills Road

Please note. All matters discussed here are private interpretations of personal experience with added knowledge. This is not connected at all to the Tuberous Sclerosis Association. Visit the official website for reliable information. It has updated my knowledge, which was formed in the 1980's