, Bridge Magazine , News
When Stefania Little was born in the 1990s in Western Australia, Hirschsprung’s Disease was mainly thought to affect males and people with Down Syndrome. She was the first female patient her doctor had treated with the disease.
What is Hirschsprung’s Disease?
Hirschsprung’s Disease is a congenital condition which causes missing nerve cells in all, or part, of the large intestine (colon), which is part of your bowel. It is often diagnosed in newborn babies, but with more now known about the disease, people are being diagnosed later in life.
Stefania’s Story
I was diagnosed within 24 hours of being born. My mum fed me and I threw up green bile straight away, which comes from the bowel. They had to get onto it quickly, and from there the rollercoaster started. I had my first colostomy bag within the first week of being born. For the first ten years of my life, I spent more time at the hospital than at home and had had seven colostomies, two ileostomies, perianal abscesses, fistulas, adhesions, hernias and sepsis.
I had a sphincterotomy and they overcut the sphincter, so instead of being constipated, now I was incontinent. Around age 10 my doctor had to retire, and I got a new doctor. All he wanted to do was give me a permanent colostomy bag to help with the incontinence, and mentally I couldn’t handle that. I would shut down and cry because I didn't want to be at the appointment. My mum reached out to the old doctor and managed to get a new referral to Dr Rupert Hotter, he spent three years doing research and testing on me to see if I was eligible for what was then a new treatment: a sacral nerve stimulator. I found I was eligible for it at 15, but had to wait until I was 16 to get the sacral nerve stimulator put in. Perth didn’t offer the surgery, so they flew me to Sydney, and I was the youngest person in Australia, back in 2009, to get the treatment. They give you a two-week trial and you have to keep a diary of how it is going. But straight away I felt a huge difference once that machine was turned on. Suddenly, I had feeling in my backside. Honestly, it's been the most life-changing thing. When I got the sacral nerve stimulator, I was no longer incontinent, and it was a huge relief I wasn’t going to have to have a permanent colostomy bag.
Sacral nerve stimulation is a means of directly stimulating the third sacral nerve with an electrical current to alter/improve bladder and bowel function and modulate pelvic pain.
Starting a family
I was told at ten years old that I would never be able to fall pregnant or carry a child because by that time I had had 136 surgeries. But fast forward to when I was 17, I found out I was about five months pregnant with Samantha and I carried her to pretty much full term, she was 39 weeks. For the first four days, she seemed fine, she was passing meconium and doing the right things. Then suddenly it stopped. Samantha was very jaundiced again, she wasn’t waking up, she wasn’t feeding. Mum said to pack a bag and go to the hospital, I think she has Hirschsprung’s Disease.
I was in denial, I really didn’t want her to have it. The doctor walked into our cubicle in ED and looked at me and my mum and said, I know who you are, and I know what this baby has. It turned out she was my doctor when I was a kid, and now she is Samantha’s doctor. They had to rule out a twisted bowel first because it presents with the same symptoms. She had surgery and they were able to do what's called a pull through where they cut out a section of the bowel and then rejoin it to the anus. They managed to avoid giving her a colostomy bag which was great for my mental health as I have a lot of trauma around them from when I was a kid.
Managing incontinence
I have had a lot of doctors say to me, “You have had the surgery for Hirschsprung’s Disease, so you no longer have it.” But Hirschsprung’s Disease is incurable. There are so many ramifications from cutting out that bit of bowel: scar tissue causing weakness in your remaining bowel, IBS, bloating, gas, constipation, incontinence. All of these are still issues for me.
Even with the sacral nerve stimulator I still must make lifestyle changes. For instance, I always have to scope out the toilet when I go somewhere new. Just in case I need to go quickly. I have to be really careful with my diet and keep dairy, high-fat foods, carbonated drinks and gluten to a minimum. I have also just been diagnosed with endometriosis and I have a ten-centimetre cyst which keeps getting infected, so I am trying to get treatment for that. I have had to have repeat surgeries to replace the battery on my sacral nerve stimulator. The one I have now will last about seven years, but I think the newer ones can last up to 15 years. The batteries are also getting smaller, and I can now get the surgery in Western Australia rather than having to travel to Sydney.
For my daughter, after the initial surgery, she had an overactive bowel, so a fast transit bowel, with a bit of incontinence. We have had to do diet restrictions to rule out anything that makes it faster. And occasionally medications, but she's doing great now. For Samantha, I had to push and push to get referred to a continence nurse to talk to them about her bowel health. But now we have Carrie Murphy from Perth Children’s Hospital, and she is so great at talking to Samantha and asking her questions directly—rather than talking to me about Samantha's condition and asking me all the questions when she is sitting right there.
Advocating for yourself
My mum is the main reason I advocate for Hirschsprung’s Disease, back in the 90s she had to go through all my medical stuff alone. I also felt very alone with it which is why I started my page and joined other Hirschsprung’s support groups online. It is very helpful to connect with people going through the same thing.
If you find it hard to advocate for yourself, don’t be afraid to ask for help from family and friends who can be your voice, or your child’s voice.
My advice for any parent with a child who is soiling themselves or wetting themselves is to keep asking for help. Some doctors will just go, “too hard basket”, so if you feel in your gut that you don't like what you're hearing, tell them, because you know your body. You know your child's body better than they do. Fight for more answers, get a second opinion, keep asking until the answer sits right with you. And if it keeps coming back to the same answer, and you're still not happy with it, then you need to say, all right, if this is the only answer you're giving me, what support can you give me?
Living with incontinence is not something you have to put up with, and there are treatments, physios and dieticians who can give you exercises, or diet restrictions, or medications that can help. Children can get an “I need to go” card from the continence nurse to help them access toilets when out in public places. Make sure you get put in touch with the hospital school liaison officer to help you put processes in place with schools and a protocol with the teachers to avoid your child having an accident. There is also the Continence Aids Payment Scheme (CAPS), so there is a lot in place and there is a lot of help once you know what to ask for.
Get support
If you relate to Stefania’s story but don’t know where to get help, phone the free National Continence Helpline 1800 33 00 66, 8am-8pm AEST Mon-Fri to speak to ask a nurse continence specialist any questions you have relating to bladder or bowel control health.