“We refused to think nothing could be done”, mum of son affected by rare disease highlights the importance of ongoing research

Marie James, mum of 35-year-old Trystan James who is affected by a rare disease where tumours develop in different parts of the body, is championing research into rare diseases to enrich and improve her son’s life.

Marie and her husband Perry from Cross Hands, Carmarthenshire, are Trystan’s full-time carers. He was diagnosed with the rare disease tuberous sclerosis (TS) at just eight months after he started having mild but frequent seizures, which failed to respond to medication for epilepsy. Since then, Marie and her family have been involved in as much research as possible from sleep trials, blood tests to gene identification and even working with researchers to help develop clinical trials.

To mark Rare Disease Day (28 February) Marie wants to raise awareness of the research by Wales Gene Park and Health and Care Research Wales who fund and help deliver some this life-changing research which has transformed their lives.

Marie, 62, said: “We were really fortunate from the outset to have access to clinicians who combined research with their clinical work. When Trystan was diagnosed there was very little information on TS and no treatments. We were told to take him home, love him, there’s nothing else you can do. It was pretty bleak. He was the same baby we had known and loved from day one but our hopes and dreams for him had changed irreversibly.”

A rare disease affects fewer than 1 in 2000 people with One hundred and seventy-five thousand people in Wales affected at some point in their lives. There are over 6,000 rare diseases, more than 70% of which are genetic in origin.

Marie continued: “Like many others with TS, Trystan has multiple growths on the brain which cause epilepsy, autism and severe learning difficulties. He’s developed hypertension, osteoporosis, gastric and cardiac problems. He also has kidney tumours which are significant – the one of his left kidney measures 26x17x10cm, the size of a rugby ball, and probably causes him considerable pain and discomfort.

“Without new treatments discovered through research, Trystan wouldn’t be with us now - the rate of his kidney growth was alarming, and nothing could be done for him surgically.”

Research into TS initially looked at identifying the genes that caused the condition, before progressing to blood tests to see where there was family link.

Wales Gene Park, funded by Health and Care Research Wales, supports rare disease research in Wales. Research being undertaken by the Inherited Tumour Syndromes Research Group as part of Wales Gene Park (Cardiff University Division of Cancer and Genetics, School of Medicine) is leading to a better understanding of the underlying genetic causes of the condition.

Professor Julian Sampson, who until recently oversaw Trystan’s care, is Chief Investigator on a study looking into Genes and the Kidney in Tuberous Sclerosis (TS), which aims to find out how the kidneys of people with TS are affected as they grow older. Although Trystan isn’t eligible to take part in this study, which is aimed at children, the findings could benefit others like him growing up with the condition.

Wales Gene Park Research Coordinator, Laura Butlin, oversees the delivery of this research study and described what is involved: “Children with TS can take part in the study which involves their carers completing a health questionnaire on their behalf and allowing researchers to review their medical notes. Researchers may also ask for a blood sample from the child, taken by their GP or at a local hospital, to look at the child’s genetic change in more detail or check kidney function if this has not been done recently.

“By doing this research we're expanding our knowledge to help patients and their families going forward. We need to increase research into rare diseases and look at more treatments rather than managing the conditions with medication and then, one day, hopefully cure some of these diseases.

“By being part of research you’re helping in the future of the disease and that's what we're trying to do - improve the lives of people going forward.”

Help shaping research

As well as supporting Trystan to take part in clinical trials, over the years Marie has been involved with the Wales Gene Park, giving talks to healthcare students and the public about her family’s experience of TS and is a patient representative on the group which developed the Welsh Implementation Plan for Rare Diseases.

She continued: “If you’re involved, you’re empowered, informed and have the latest knowledge. Over the years, research has given us something to put our energy into, it’s been something positive to do and focus on.

“We refused to think nothing could be done. We’re lucky that in Wales and the UK research has moved on at a pace. So much has been learnt over the last 30 years and Cardiff researchers have been central to developments, we’ve been so lucky to have had research opportunities on our doorstep. I’m a firm believer that everyone with a rare disorder should have the chance to get involved in research as part of their care plan.”

Lifesaving research

“Of course, research doesn’t just investigate treatments and drugs, it also looks at best practices, including risk reducing measures and guidelines for managing for seizures. Trystan has a baseline of 8 seizures a month but in January he had 30, Trystan’s risk of sudden unexpected death in epilepsy (SUDEP) means we have strict protocols to follow for his care.

“Research has shown that SUDEP most likely occurs in the hour after seizure when the body and heart rate doesn’t return to normal rhythm. This means that his dad or I are always by his side, monitoring him throughout the night – which has kept him as safe as possible.”

Where would we be without research?

“Without rare disease research we’d be lost, isolated, ill-informed, struggling. And Trystan wouldn’t be here. That’s the bottom line – Trystan’s life would have ended years ago without research. And where would we be then? I can’t imagine life without him, our lives are intwined. I’m so proud and privileged to be his mum. He wouldn’t be here, and I don’t know if I would be, I certainly wouldn’t be the person I am now. We are hugely thankful to the research community in Wales and their dedication to TS.”

For more information about the Health and Care Research Wales public involvement community visit here or to find clinical research trials in your area search here.