What is Hirschsprung’s Disease and how has it impacted me? | by Rachel

Short-segment disease (most common): affects only the rectum and the lowest part of the colon (sigmoid colon). This accounts for approximately 80% of cases (per zero to finals).
Long-segment disease: the aganglionosis extends beyond the sigmoid colon into a longer segment of the colon. It is less common (about 20% of cases) and often more severe.
Total colonic aganglionosis (TCA): The entire colon is affected, accounting for around 5-10% of children with the disease.
Total intestinal aganglionosis: a rare, severe form where nerve cells are missing from the entire large and small intestines.
Small intestinal Hirschsprung’s Disease: nerve cells are missing from the rectum, colon, and the end of the small intestine.

Patients in the UK are usually under the care of a surgical team throughout childhood, with check-ups continuing into adulthood. For babies and young children, stoma nurses will oversee stoma care, and if reversal surgery has been performed, support is still needed to help manage ongoing symptoms. Medications to slow down toileting, and sodium chloride, can be prescribed if the patient struggles to retain fluids and electrolytes.
Hirschsprung’s Disease UK is a source of support started by a group of parents, with the vision of creating a hub for parents and carers who hear about the condition for the first time and want to learn more, while feeling less alone. Look out for updates on their social media pages for resources and support.
If social media is your thing, there are support groups on Facebook all over the world where people ask questions and share tips and life experience. Patients also use Instagram to document life with the condition, like myself, and are often willing to chat and answer questions you may have.
Tom’s Hirschsprung’s Podcast is a fantastic resource full of stories from patients, with Tom starting the podcast to connect with others living with the condition. You might even see some familiar faces there too.