Mum hails research for extending life of son, 35, with rare condition
SINCE he was a baby, Trystan James has lived with a rare disease which causes tumours to grow all over his body.
As well as having multiple masses in his brain, the 35-year-old now has a growth on his left kidney which measures as large as a rugby ball. His parents, who are his full-time carers, say the huge tumour not only causes their son considerable pain and discomfort but it cannot be surgically removed.
Mum Marie James, from Cross Hands, now spends much of her time championing research into Trystan’s rare condition, called tuberous sclerosis (TS), in an attempt to improve his life.
“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,” she explained. “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.”
Trystan was diagnosed with TS at just eight months old after he started having mild but frequent seizures which failed to respond to epilepsy medication.
Since then Marie and her family have been involved in as much research as possible, from sleep trials and blood tests to gene identification. They have even worked with researchers to help develop clinical trials. 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 one in 2,000 people, with 175,000 people in Wales affected at some point in their lives. There are in excess of 6,000 rare diseases, more than 70% of which are genetic in origin.
Marie said she wants to raise awareness of research carried out by Wales Gene Park and Health and Care Research Wales, which fund
and help deliver research which has transformed their lives.
Research into TS initially looked at identifying the genes that caused the condition before progressing to blood tests to see where there was a family link. 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 trying to better understand 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 TS which aims to find out how the kidneys of people with the condition 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 co-ordinator Laura Butlin oversees the delivery of this research study and described what is involved.
She said: “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.” As well as supporting Trystan to take part in clinical trials, Marie has given talks to healthcare students and the public about her family’s experience of TS.
“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,” she continued.
“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.”
She added: “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 eight 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 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.”
Without rare disease research, Marie said she would be “lost, isolated, ill-informed, and struggling”. She concluded: “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 entwined.
“I’m so proud and privileged to be his mum. He wouldn’t be here and I don’t know if I would be [without the research] – 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.”
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 Marie James