Tell me about your career path and why you chose to go into medicine
I knew I wanted to be a doctor when I was eight years old. There weren’t any doctors in my family, so the inspiration wasn’t medicine as such – I just really enjoyed caring for people and loved problem solving. I think it’s important to inspire young people to go into medicine, which is why I give career talks at my children’s school and at the University of Liverpool.
I went to medical school in Newcastle and knew pretty early on I wanted to specialise in paediatric surgery. I love my job and it’s incredible working with children – they tell you how they are feeling, and they tend to bounce back from illnesses so well. It’s also really rewarding working with families.
The research part of my career came later. I had done clinical research projects during my junior doctor years, but it was about two years into my paediatric surgery training that I decided to pursue a PhD. I wanted to explore this professionally, as I had just moved to Alder Hey hospital and had met some inspiring doctors who spoke highly of research careers. The opportunity to develop new ways to treat diseases using regenerative medicine therapies was, and still is, incredibly exciting and I was fortunate to be offered a PhD where I could work on this. But it was also a practical decision – I had just had a baby and undertaking a PhD worked well for me at that stage in my life.
What is Hirschsprung’s disease?
Hirschsprung’s disease is a rare, inherited condition affecting 170 babies every year in the UK. When an embryo forms, nerves in the rectum develop that allow the bowel to relax so that babies can poo. In Hirschsprung’s disease, those nerves don’t develop properly, and poo builds up in the abdomen. Hirschsprung’s Disease can sometimes cause a condition called enterocolitis, which can be life-threatening, or have long-term effects on bowel and bladder function.
Hirschsprung’s disease isn’t picked up during pregnancy, so it’s usually detected when babies don’t poo in their first 48 hours, get a distended tummy and start vomiting. By this point it’s an emergency, so we start treating the baby as if they do have Hirschsprung’s disease, usually with washouts through the bottom and sometimes with an operation. We often do the tests to confirm it is Hirschsprung’s when we’re happy that the distension has improved and the baby is safe.
Hirschsprung’s disease usually affects the lower end of the bowel and babies often have surgery to remove this part of their large intestine, which is then reconstructed. This leaves about 30% of children with chronic bowel problems including constipation, incontinence or inflammation, and 10% require a long-term stoma.
What impact does this condition have on the families you work with?
As you can imagine, it’s very stressful for parents in the first few days and months. Many of them have never heard of Hirschsprung’s and then have to come to terms with their newborn having life-changing surgery because of it.
The impact of the disease changes throughout a child’s life. For the first few years the focus is on reducing the risk of enterocolitis and discussing whether further surgery is needed. Then when children start school, families have to think through potty training and how to manage their child having different needs when going to the toilet compared to other children.
As children get older, they sometimes still need help with their bowels. If that happens, we can explore other options to help with bowel control, like suppositories, having a tube fitted through their appendix (called an ACE) and occasionally a stoma. Older children take more ownership of their condition, but we continue to work as a team to understand what they struggle with and address it directly. Concerns will be different for each child, for example being worried about their stoma bag coming off when swimming, or needing to remember to go for a poo before playing football so that they don’t struggle with soiling.
What are the research priorities for the disease and what excites you most about it?
A priority for us is to keep working towards developing new therapies for treating Hirschsprung’s disease. Our research group has been looking at stem cell therapies for Hirschsprung’s disease for a long time and we are making progress on this. I’m really fortunate to work with skilled academics at the University of Liverpool and consultant surgeons with a lot of experience in both looking after children with Hirschsprung’s and in this research area. If we are successful in developing a safe therapy, this would transform the lives of babies born with Hirschsprung’s disease.
A long-term priority is to create a way to track how patients are doing and the issues they face over a lifetime. We can follow them easily through clinical studies for around five or 10 years. But after that, we have relatively little information on what it’s like to live with Hirschsprung’s disease and how treatment could be tailored to make that stage of life easier for survivors.
Internationally, Hirschsprung’s researchers need to work with people with Hirschsprung’s disease and their families to agree on what the research priorities are as there’s still so much we don’t understand, like why Hirschsprung’s patients sometimes have more severe rashes around their stoma compared to other patients with stomas, and why they experience more severe enterocolitis when compared with other bowel diseases.
What’s really exciting is that there is an engaged research community with a good base in the UK and a growing group globally wanting to answer these questions. We’re all motivated by the tangible potential to save lives and transform the experience of families affected by the disease.
Tell me about the funding you’ve received from Bowel Research UK and how it will help?
Our new project will look at the nerves that control bowel function. They grow from specific nerve stem cells, which are surprisingly still present in part of the bowel without normal nerves in babies with Hirschsprung’s disease. We want to understand what stopped those stem cells forming functioning nerves and whether those cells can be ‘switched on’ to grow functioning nerves in people with Hirschsprung’s.
What message do you have for supporters who donate to Bowel Research UK?
I want to send a massive thank you to Bowel Research UK’s supporters – we are so grateful. I always think about the people who do marathons and other incredible things to fund our work. We’re very conscious of this and it makes us always strive to use resources wisely and make the most of the funding we have. Please keep going to fund even more research like ours!