‘I could see research on tuberous sclerosis complex needed to be done in Ireland, so I decided to do it myself’

Your research is on tuberous sclerosis complex or TSC, what is that?

Tuberous sclerosis complex is a rare disease that affects around one in 6,000 people. In people with TSC, cells start to grow too quickly resulting in non-cancerous tumours forming in the body. Depending on where those tumours grow, the person may have various problems.

We mostly see the tumours affecting brain function – so the person may have spasms as a baby and then epilepsy and perhaps learning difficulties or autism. There can also be issues with the kidneys and lungs. Some people with TSC have severe symptoms, others may be living with it and not even know they have it. It is very complex.

When did you first hear about TSC?

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My daughter has TSC – she is 30 now and studying for her master’s degree – but when she was diagnosed I had never heard of it. A friend mentioned they had seen the name of the condition on the back of a charity Christmas card in the UK, so I rang Great Ormonde Street Hospital and asked to speak to the neurology ward sister as I thought that was the best person to ask. It was – I immediately got the name of a consultant and details of a support group.

How did you become involved in research on TSC?

I have been involved with patient advocacy for more than two decades, both for TSC following our daughter’s diagnosis and for Sudden Arrhythmic Death Syndrome or SADS, following our son’s death from it in 2005.

From my work and experience in the area I could see research on TSC needed to be done in Ireland, so I decided to do it myself. Prof Colin Doherty, a wonderful neurologist in Trinity College Dublin, said he would supervise my research for a PhD in FutureNeuro, the Science Foundation Ireland Research Centre for Chronic and Rare Neurological Diseases. That is what I am working on now, in my retirement.

What is your PhD about?

We need to know where the people with TSC are in Ireland. We estimate there should be around 500-600 people, but we don’t know how many are attending neurological services here. I have ethical approval to carry out a national audit for Ireland and I will also be doing in-depth interviews, speaking to patients, parents and carers about their experiences.

We need that bigger picture of what is going on with TSC here. I want to make the invisible visible.

What kind of impact could the findings have?

New treatments have come out for TSC to help stop the growth of the tumours. If we know where the people are who need it, then we can get more people on to treatments that can help them. I hope the research will also help to get the word out among clinicians, so patients can be diagnosed and get appropriate treatment more quickly, and that we can create a centre or network of experts – multidisciplinary care is one of the linchpins for managing TSC.

How do you take a break from advocacy and research?

My husband is from Iran, my daughter with TSC is in Ireland and we have another daughter who lives in France, so I enjoy travelling and spending time with my family. I also just love the work I do, I’m very happy doing it.