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Rachel’s Stoma Story | Hirschsprung’s Disease

My stoma story isn’t one I have seen as of yet, and yes I have been looking. I love connecting with people in the ostomy community. It played a big role in the acceptance of my own. It makes me feel less alone and different compared to family and friends that can’t possibly relate or understand. At birth my tummy distended, I couldn’t pass meconium (the first stool a baby passes) and I was vomiting. Unknown to my parents, they were the first clear signs of Hirschsprung’s Disease.

What is Hirschsprung’s Disease?

This fairly rare disease is thought to occur when the ganglion cells that line the intestines don’t develop properly, making it difficult and in my case impossible, to pass waste out through the rectum. This is a process called peristalsis.

Source: https://rarediseases.org

The length of intestine this affects can vary between patients, defined as being either short, long or total segment Hirschsprungs. In rarer cases, it affects all the large intestine and the rectum (total segment) which in my case it did. 1 in 5000 births present with this disease with total segment being the most rare of its kind. With males 3 to 4 times more likely to be born with the disease you could say I hit the jackpot!

A stoma was formed in the first few weeks of life following stomach and bowel washouts. This is required to help the passing of waste in a babies first few days of life whilst a biopsy is done to confirm Hirschsrungs Disease and prepare them for major bowel surgery. An ileostomy was formed and my first stoma arrived! Ostomy bag technology has really come on since the 18th century where research shows sponges were attached with rubber bands to absorb output, glass bottles and tins. Below you can see just how far we have come thanks to stoma companies research and development, ensuring ostomates can feel comfortable and confident with their appliances (photos sourced from Springer Link/Pelican Healthcare).

A surgeons aim in most cases is to perform reversal surgery taking the stoma that sits outside of the body back in, and connecting it back to the rectum if it is still there. Otherwise, j-pouch surgery is performed where the intestine left is manipulated at the end forming a ‘J’ shape, which is used as a substitute for the rectum. To the left you can see the j-pouch formed at the bottom and a stoma on the top left for visual reference.

Source: https://www.giejournal.org/article/S0016-5107(17)30087-1/fulltext 

Unfortunately for me, a j-pouch gave me no end of problems. Through childhood to adolescence more of it was feeling poorly than not. After a few years of feeling brilliant in my mid 20’s however, I met my now-husband and stepson and then welcomed Baby Jake!

Baby Jake

The pregnancy went really well but unfortunately Jake became the 1 in 10 that was passed the Hirschsprungs genetics. It was devastating to say the least. The family couldn’t believe it and I can still remember like it was yesterday Jake in the incubator a few hours after birth waiting to be blue lighted to Noahs Ark Children’s Hospital in Wales. He needed their specialists and we had ring our parents and siblings to tell them the worst had happened. I cried in the corridors a few hours after my c-section with 6 week hospital stay ahead of me, while my husband had to go back to work and look after my step son who dealt with the situation amazingly. The nurses kept asking how I was up and down all the time and not resting. The incubators were high up meaning I couldn’t see Jake when I sat down so I stood. They said the adrenaline was keeping me going and I needed to look after myself. That wasn’t the priority and the guilt of passing on my genetics to this poor helpless baby was a hard pill to swallow. Something I don’t think I will ever get over.

Jake has had 10 surgeries to date with the disease and undiagnosed Coeliac Disease at 18 months meaning his body has suffered far more than mine. He had an attempted reversal surgery which didn’t go to plan. When they discussed the surgery we didn’t consider him coming out with another stoma and needing intensive care where he didn’t wake up for a week. Hirschsprung’s Disease doesn’t get the coverage that your other typical bowel diseases do. I started my Instagram account to share our story and connect with other parents as finding people to relate to was so hard. Little did I know then that when Jake was 4 I would have my own stoma surgery as my own surgeon said my last chance at a good quality of life was to have a stoma again. At this point I couldn’t walk without being in pain, long walks and playing with the kids was impossible, and I had to stop my job as a secondary school teacher when the symptoms made it difficult to stand in front of a class and do my job the way it deserved. Carrying a baby had causing scars from old surgeries to be irritated and without a stoma they simply couldn’t heal. Hirschsprungs Disease causes the level of absorption of salts, minerals, water and medication unpredictable. I was prescribed enough tramadol and pregabalin to knock out a horse but they didn’t touch me!

Stoma surgery

In Summer 2020 I had the call that my surgery was going ahead. It needed refashioning 5 weeks later with it retracting back due to my fun anatomy. I thought I would be fine and it would be a breeze having had Jake with an ileostomy and a feeding tube for 4 1/2 years, but I struggled with it to say the least. I couldn’t look at it the first few days, I didn’t want to change it. The doctors said it was common to go into shock after surgery with the brain not understanding why an internal organ was now on the outside of the body. Having looked at a stoma and been able to change it with my eyes closed on Jake yet still feeling that way was something I wasn’t prepared for. It made me think of those that have emergency surgery and in some cases wake up having a stoma there they didn’t even know they existed. Ostomates are a force, they are like unicorns. So unique and special, all that they go through, so individual as to how they had with ostomies yet fight it every day within most cases their secondary problems to contend with. I am so grateful to the NHS and our own ostomy supplier Respond and Pelican for continuing their product innovation to give us the security to go about our day and live our lives to the best of our ability. I’m sure with me and my little man that our conditions will through us another curveball in the future. For now, though we keep going, be positive and take every opportunity that comes our way to make the most of what we have.

Until next time x

Rachel @gutsy.mum 

Learn more about Hirschprung’s Disease 

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Meet the blogger: Rachel

Rachel is a part time baker and healthcare blogger who started raising awareness of stoma surgery following the birth of her son Jake. Jake was born with the same condition […]