When you think of reasons for a stoma bag what comes to mind? IBD, Crohn’s or Colitis are some of the first, but have you heard of Hirschsprungs Disease? Presenting in 1 in 5000 babies a year in the UK, this rare bowel disease is a birth defect that can occur with no family history of the disease. The nerve cells that line the intestines that are needed to move stool along into the rectum for toileting (known as ganglion cells), are not present. Your intestines should rhythmically move stool along in a wave-like contraction which when failing to do so cause tummy distention and constipation.
Some of the first tell tale signs that I knew my little boy had it was not wanting to feed, tummy distention and not passing the first stool after birth (meconium) 48 hours after birth. On the other hand, my parents had me they had never heard of the disease. It was quite the shock and emergency surgery needed to form a stoma with all my large intestine and part of the small removed.
The word stoma is used to describe an opening in the body. In this case an opening was made to bring out the intestine and a bag attached to collect stool. It is a lot to get your head around but one plus is the toilet roll we save with two of us in the house with stomas! Also gone are the days of worrying about reaching toilet facilities and getting caught short. It’s about celebrating the little things!
It wasn’t until the age of 2 that a J Pouch was created where the small intestine was pulled down and folded along itself to form a ‘J’ shape. The bottom of the ‘J’ was then surgically attached to the anus. This creates a new reservoir for stool to collect to replace the rectum that was removed. The new pouch needs time to heal so like in most cases, a temporary stoma was formed until it was time to reverse the stoma.
When I was pregnant I felt I knew my little boy had the disease, mothers instinct was present from the start and I hated myself for being right when he was born. His 10 surgeries that has followed have been a trauma in itself. Despite this, I can’t imagine what it is like for families for which the disease is something new with no prior knowledge or experience.
With myself already having the disease, as prospective parents we were offered genetic counselling. We were told if we went ahead there may be risk of losing the foetus in the process, therefore we decided not to proceed as for us it was a non-starter that we would risk losing the baby. Medical research and technology has advanced exponentially since I was born in 1989. It felt like Jake was always meant to be mine and with us both having stomas we can face this dreaded disease and fight it head on as a family.
During my own childhood there were little to no resources and computers weren’t accessible to all certainly during my infant years (my I feel old writing that!). Today we are so lucky to have the internet at our finger tips, having access to research papers, hospital documents of support and research for parents. Community groups for children with special and additional needs, and social media groups formed by the trail blazers who work every day are so important. They create safe and nurturing spaces to give us experienced folk a way to share and help those that are new to the world of Hirschprungs and ostomies. I started my Instagram account @gutsy.mum to share our story with Jake following the comfort and solace I gained from others. Little did I know those connections I would need for my own journey when after already having the reversal as a child, 4 days after my 30th birthday I needed a second stoma surgery and then refashioning surgery 5 weeks after that.
I really feel for my parents and those that lived before them that navigated this disease with such lack of medical advancement. We are so fortunate to live with the NHS and to have stoma nurses and gastroenterologists providing knowledge and care for ostomates. By sharing our stories, reaching out and taking part in genetic research, I hope the future for our children will continue to get brighter and brighter. My inbox is always open for the smallest and biggest questions.
Take care, Rach x
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