What is it like to live with Hirschsprung’s Disease? Rachel’s Story
Rachel Louise Morris, or gutsy.mum, shares her story of what it is like to be diagnosed and live with Hirschsprung’s Disease, as well as caring for a child with it.
4 minute read When you are a child in your own bubble, going to school, playing with your friends, doing normal things, you don’t see yourself as different. There is nothing to see when you are dressed for the day. Nothing to hide. But when you get older, and see that you are different, and others are not navigating the same waters as you, it hits you like a tonne of bricks. Chronic illness does that. An incurable disease does that. Being born with an invisible illness creates anxiety, stress, barriers in being social, and makes you question ‘why me?’.
In the digital age where we have the space to share our health journeys, it has never been a better time to reach out and connect with others, who have walked in similar shoes as yourself. That’s where my little corner of the gram started.
I was a new mum to a beautiful baby boy that won the lottery you don’t want in life, an incurable bowel disease, Hirschsprung’s Disease. I found myself not being able to relate to any friends or mothers I knew and felt very isolated. I knew I couldn’t have been the only one. I have lived with the disease myself and now it was my turn to care for a baby born the same, so I harnessed my struggle and turned it into a focus for supporting others.
What is Hirschsprung’s Disease?
Hirschsprung’s Disease occurs around 6 weeks into gestation, where the ganglion cells that have the job of rhythmically moving waste through the bowels, are not present. It can vary in degree on how much bowel this affects. In mine and my son’s case it was all the large bowel and 10cm of the small bowel, otherwise known as long segment Hirschsprung’s Disease. It can however, be present in a much smaller amount of bowel, known as short segment.
At birth, the first symptoms are a distended stomach, difficulty feeding, irritability, and failing to pass the meconium (a newborns first stool). Hirschsprung’s Disease is more commonly diagnosed within the first 6 months of life, but can be detected later on in childhood or adulthood.
Confirmation of the disease is made through a rectal biopsy, which takes a small piece of tissue from the bowel to examine under a microscope. The sample will be tested for the presence of ganglion cells. In small babies this can be done on a ward with no anaesthetic, but in older children and above, a general anaesthetic is needed in an operation.
Rachel’s story
Unfortunately, my son displayed all these symptoms and more, and it was very obvious within a few hours that our journey was not going to be the textbook first time mum fairy tale I had dreamt of. When you are expecting a child for the first time, you lay at night thinking about all the firsts you will do. Taking them home, the first outfit, the first feed, the first walk, visitors coming to see your new bundle of joy. None of that was meant for us, and I would be lying if 8 years later it still didn’t upset me now.
I was born with the same condition, which means within a few days of life you need stoma surgery depending on how much of the bowel is affected. Leading up to surgery, bowel washouts are needed as the baby can not get rid of their own waste. This can be multiple times a day.
A stoma (the greek word for opening), is a where a part of your intestine is surgically brought out and stitched to the surface of your stomach, allowing stool to pass without needing to go through the rectum. You are effectively creating a diversion to allow your bowels to function the way it needs to, bypassing an intestine that can not function, and allowing for further surgery to remove the non-functioning bowel. This can be done in one surgery, or in staged surgeries.
How to cope & live with a stoma
Living with a stoma brings with it challenges often hidden from the outside world. If you were to look at an ostomate (the term used to describe someone with a stoma), unless other medical conditions were apparent, you simply wouldn’t know.
Despite this, the hidden illness brings with it emotional and physical hardships. Emotionally, when surgery has happened, acceptance of your new body can take a long time. The brain does not expect to see an internal organ on the outside of the body, and the shock can be quite something. Having a good support network around you is crucial. If your surgery is planned and not an emergency, doing some research online and seeing how ostomates navigate life with one, can help mentally prepare you for life post surgery.
Physically you have to get used to your body functioning in a completely new way. From emptying the bag, monitoring the output, changing it, and being on high alert for leaks is something you will have to learn to accept as normality. It is hoped it will become second nature similar to brushing your teeth everyday. Autopilot will kick in and you will do these things without thinking. This may take months, even years. It is important not to put pressure on yourself and get all these things working efficiently, as you need time to get into a new routine and learn to live your everyday life, with the addition of the extra care you need to give yourself.
Enterocolitis
Enterocolitis is the main risk when living with Hirschsprung’s Disease. The inflammation of the intestines can cause fever, nausea, vomiting, diarrhoea, tiredness and swelling near the stomach. Output from your stoma can rocket to an unmanageable level, where the lost fluids can not be replaced at home with hydration supplements, and hospitalisation is needed for replacement fluids. Having a stoma and lack of bowel presents issues with dehydration, absorption of nutrients and other challenges.
An ostomate should have a stoma nurse in their local care setting as a point of contact for support with any of this. If you have just been diagnosed, it can feel very isolating with the condition being rare, and many not sharing on social media like we see with other bowel contains such as IBD and ulcerative colitis.
Connecting with others in a similar situation whether it be with the disease, or with a stoma, is what has seen me through my darkest days. Having someone validate your feelings and concerns gives strength. It helps towards acceptance and heeling. Having a strong support network that is there and listening is wonderful, but nothing beats someone that has walked similar shoes.
Rachel’s socials
If you or someone you know have suffered with Hirschsprung’s Disease, you may find it beneficial to follow along with Rachel’s journey. She posts on her instagram “@gusty.mum” regularly, sharing tips and advice on how to cope with this disease.
