Patient perception of diet in inflammatory bowel disease
Inflammatory bowel disease (IBD) involves chronic inflammation of the digestive tract tissue. Different types of IBD are diagnosed depending on what tissue is affected: ulcerative colitis affects the large intestine (colon) and rectum, while Crohn’s disease usually affects the small intestine. Both conditions have similar symptoms (pain, cramping, diarrhoea, fatigue) which can fluctuate between a severe flare-up and remission.
In 2021 we began working with Crohn’s & Colitis UK to learn how diet can influence symptoms and disease progression. We’ve facilitated many meetings with patient members and conducted a scoping literature review. As diet and IBD is such a wide-ranging topic, the charity has decided to focus on the patient’s perception of dietary guidelines and advice from healthcare providers. We plan to complete a more in-depth review, and then conduct a qualitative study using interviews and questionnaires to understand the patient experience.
Pathway of Clinical Care in Neurofibromatosis Type 1
Neurofibromatosis type 1 (NF1) is a rare genetic condition that causes tumours to grow along nerves. The tumours are usually non-cancerous, but can cause severe complications, pain, and significantly impact quality of life. About half of those affected also experience learning and behavioural difficulties. Early diagnosis is key to appropriately monitor the condition, allowing timely screening and intervention. Although the NHS provides two excellent specialised Complex NF1 clinics, there is no standardised care pathway and limited non-specialised support.
Childhood Tumour Trust are keen to address the lack of ‘joined up care’. To start, we’re collaborating with a range of healthcare providers, patients and families to create two questionnaires. Our aim is to document diagnostic and clinical experiences from both patient and clinician perspectives. We can compare the results to existing guidelines and see where further education or resource is needed.
Breathing Abnormalities in Pitt Hopkins Syndrome
Pitt Hopkins Syndrome (PTHS) is an ultra-rare condition caused by a genetic mutation on chromosome 18. PTHS is associated with characteristic physical features, developmental delay and learning difficulties. Many patients also experience frequent episodes of hyper-breathing and/or apnoea. Pitt Hopkins UK is interested in learning more about these breathing anomalies: why do they affect only some people, what are the long-term consequences, and how can they be treated?
Pitt Hopkins UK and the PLRH have teamed up with geneticists and respiratory researchers in Cardiff and Bristol to look into these symptoms. We were very pleased to have nearly 100 responses from patients, families and carers to a detailed online survey about breathing anomalies. We’re reviewing the dataset and hope to use these findings to support a funding application.