Hirschsprung's disease is a rare congenital condition that causes poo to become stuck in the bowels.

Congenital means present from birth.

Normally, the bowel continuously squeezes and relaxes to push poo along, a process controlled by your nervous system.

In Hirschsprung's disease, the nerves that control this movement are missing from a section at the end of the bowel, which means poo can build up and form a blockage.

It is not known why Hirschsprung's disease occurs and there is no way to test for Hirschsprung's disease while you are pregnant. The most accepted theory is that the bowel does not develop ganglion cells in the first 12 weeks of development in the womb.

Ganglion Cells

A ganglion cell is a type of nerve cell. In a person who has Hirschsprung's Disease, the ganglion cells are missing from a part of the bowel. In areas without such cells, the muscle within the bowel wall does not contract to push material through, which results a blockage.

Hirschsprung's disease starts at the rectum. For each person, the amount of colon affected will be different. This can be known as Short Segment (a short piece), Long Segment (a long piece) or Total Colonic (the entire large intestine). For some people, part of their small intestine may be affected also.

The aganglionic portion (without ganglion cells) of the intestine is narrowed and the portion of intestine above this is often stretched from where it has held poo that cannot pass through the rest of the colon. An x-ray can identify a bowel obstruction, but biopsy is the only way to confirm that there are ganglion cells missing from the intestine.

Image taken from BYJUS

The Digestive System

When understanding Hirschsprung's disease, it can be helpful to have an understanding of how the digestive system works. 

Your teeth chew food, and saliva (containing enzymes) begins carbohydrate digestion. The food travels down the oesophagus to the stomach via peristalsis (muscle contractions).

The stomach churns food, adds acids and enzymes, and breaks it down into a liquid. The liver, pancreas, and gallbladder also play important roles in digestion by secreting digestive juices and bile.

The small intestine (bowel) absorbs nutrients (proteins, carbohydrates, fats, and vitamins) into the bloodstream.

The large intestine (colon / bowel) absorbs water from undigested matter, forming solid waste (poo).

The poo passes into the rectum which stores the poo until you are ready to release it through the anus.

Biopsy

The only definitive way to test for Hirschsprung’s disease is a rectal biopsy – this involves taking a sample of cells from the rectum and looking at them under a microscope.

If Hirschsprung’s disease is present, there will be no ganglion cells in the sample biopsied. A full thickness biopsy is the most conclusive way to test for Hirschsprung's but a suction biopsy may also be used.

Sometimes doctors will do other tests such include blood tests and x-rays. An abdominal x-ray will show a distended (swollen) bowel above the affected section. Sometimes a contrast enema is used to look at the bowel.

Initial Treatment

When a baby presents with the symptoms of Hirschsprung's disease - a swollen tummy and not passing any meconium - it's common for them to begin bowel washouts. This can help stop any poo from sitting in the bowel and causing infection but they may require a stoma if washouts don't work.

Your baby may not take any feeds or be nil-by-mouth and they may be on intravenous fluids through a cannula (tube in their vein) to keep them hydrated.

Doctors may also give antibiotics to prevent and treat any infections.

During this time, your child may also be tested for Hirschsprung's disease.

Bowel Washouts

A bowel washout involves inserting a small tube, which is covered in lubricant, up the child's bottom and into their intestine. Warm saline in a syringe is pushed into the intestine. Poo will then flush out through the tube. Your medical team will explain how much saline to use. Sometimes the tube can be removed and re-inserted to encourage the poo to move around. Sometimes a dilator (a steel rod) may be inserted into the rectum to help the saline/poo to pass out of the bottom.

Bowel washouts can be completed daily or multiple times a day before surgery. After surgery, if your child is poorly or is suffering from constipation, you may do bowel washouts.

The resources for bowel washouts (ng tubes or catheters, saline, lubricant, syringes) can be supplied by your GP, local community nursing team or from your hospital. It is helpful to have incontinence or puppy pads to keep mess in one place.

Stoma Surgery

Usually bowel washouts are the first treatment to clear the bowel when Hirschsprung's disease is suspected. If it is difficult to fully flush the poo from the bowel then it's possible your child will have a stoma formed.

A colostomy is a hole in your tummy where a piece of large intestine pokes out. It is sewn in place. An ileostomy is a hole in your tummy where a piece of small intestine pokes out. 

Waste will come out of the stoma into a bag that sticks onto your tummy. This waste will look different to regular poo that comes out of your bottom.

Sometimes your child will have two stomas. The second could be a mucus fistula. This is the end of disconnected intestine that goes down to the rectum.

You will learn in hospital how to take care of a stoma and will have support from a stoma nursing team.

What is a stoma?

A stoma is an opening on to the abdomen (tummy) which allows stool (poo) to flow out. It is formed during surgery.

What does it look like?

Stomas are red, like the inside of your mouth, and are soft and moist. They have a good blood supply, so may bleed a little when they are touched. Stomas have no feeling so it will not hurt.

Colostomy

A colostomy is a stoma that is formed from part of the colon which is also called the large bowel. When poo enters the colon, water is absorbed and the poo becomes drier, it is then passed out of the body via the stoma. The type of poo that comes from a colostomy can either be liquid or more solid in consistency.

Ileostomy

An ileostomy is a stoma that is formed from the ileum, which is part of the small bowel. The ileum is earlier on in the digestive tract and contains digestive enzymes which help to break down food and aids absorption of nutrients from our diet. The type of poo that comes from an ileostomy is generally liquid or pasty in consistency.

Mucus Fistula

In some cases, two stomas can be formed from the same area of the bowel. They are referred to as the stoma and mucous fistula. The stoma is the one that produces the poo, whilst the mucous fistula is said to be non-functioning, but may produce mucous and gas.

Emptying a stoma bag

In hospital you will be shown how to look after your baby’s stoma. One of the first things that you will learn is how to empty the bag. The bag can be emptied into a bowl (this is common in hospital so it can be weighed) or into a nappy. The inside of the pouch does not have to be cleaned once emptied, but it may be beneficial to wipe the end of the pouch to prevent any poo from getting on your baby’s clothing.

When to change the bag

The pouch needs to be changed every 24-72 hours and if it is showing signs of leakage. When changing the pouch, you need to remove the pouch from your abdomen and then clean and dry around the stoma. When applying a new bag, the aim is to fit it snugly around the stoma, so that poo is prevented from going directly onto the skin.

Monitoring

When your child first has the stoma and when you are in the hospital, the nursing staff will make notes on how much poo your child is producing.
They monitor to check that your baby’s output is less in volume than the milk they are receiving. This is important to ensure that your child stays hydrated and receiving nutrition.

Skin Irritation

Although the stoma itself has no sensation, the skin surrounding it does and it can become irritated by both the adhesive on the stoma pouch, and also by the poo itself. Often, these irritations can be minor, but in some cases they can start to cause the skin to break down.

Prolapse and Retraction

A prolapse is when the bowel becomes longer and protrudes through the opening of the stoma. It is not usually serious, as long as the bowel remains pink and active. Retraction of the stoma is when the stoma is below the skin level. This can lead to problems with applying the pouch. You can ask your stoma nurse for help.

Bleeding

The stoma will occasionally bleed, especially when touched; this is normal. However, if the bleeding does not stop or it is coming from inside the stoma then medical advice is required.

Hernias

Hernias are common. Surgery causes a weakness in the abdominal muscle wall allowing parts of the bowel to protrude which creates a bulge under the skin. You can ask your stoma nurse for help.

Bathing

You can bathe your baby with the stoma pouch on or off. Sometimes it is good to allow the skin to breathe.

Clothing

Your baby will not need special clothes, but you should avoid clothes that may rub against the stoma, or prevent the pouch from filling. Similarly, your baby will not need special nappies.

Prescriptions

Normally, your local stoma team will set you up with a prescription delivery service. This could be Respond, Coloplast Charter, Fittleworths or another company.

They will arrange for your stoma supplies to be delivered. You can call them or sometimes order online. You can ask them for samples or try other products.

You should get free dry wipes and bags to dispose of stoma waste. You can contact them if you urgently need supplies.

Products

There are many different stoma products on the market. You can request samples from different companies and you can try different options.

There are a variety of bags, creams and powders that help the skin, rings and paste that help a bag to get a good fit, security strips and more.

Companies include: Coloplast, Hollister, Convatec, Salts, Eakin, Clinimed, Pelican, Cavilon and others.

What is Pull Through Surgery?

Pull Through Surgery is surgery where the piece of intestine that has no ganglion cells is removed and the remaining intestine is pulled down and reconnected to the rectum.

Your child will be put to sleep under general anaesthetic. Firstly, the surgeons will take biopsies from parts of the intestine to work out how much of the bowel is affected by Hirschsprung's disease. Once that has been established, the piece of bowel will be removed. The bowel will then be pulled down and reconnected to the rectum.

For some children, this will happen in one procedure.

For children with a stoma, they will have the pull through surgery first, then a stoma reversal (the surgery to remove the stoma and reconnect the intestine) at a later date to allow the bowel to heal.

For some children without a stoma, a stoma will be formed to allow the reconnected intestine to heal. A stoma reversal will take place at a later date.

For some children, if a pull through surgery can't take place, then a stoma may be formed and the pull through surgery will take place at a later date.

Different Techniques

Pull through surgery can be laparoscopic (keyhole) surgery or open surgery through a larger incision in the abdomen or transanal (through the bottom) or a mix of surgeries. This is down to your individual case and surgeon.

There are different techniques of pull through surgery. You may hear about the Duhamel, Soave and Swenson techniques.

They are named after the surgeons who developed them.

Your surgeon will advise you on the approach they select as well as make the best choice for your child.

After Surgery

Once your child's pull through is done and you have been discharged, they may return to hospital for an examination under anaesthesia where the internal scar will be checked to ensure that it is healing properly. If the scar is tight or narrow, you may do dilations (inserting a lubricated steel rod to stretch the scar tissue to ensure it doesn't cause an obstruction).

If your child has a stoma, you may recycle some of the waste that comes out of their stoma, through their mucous fistula so that the disused intestine and skin begin to become familiar with waste.

Staying at Hosptial

Staying in hospital can be frequent for some families of children with Hirschsprung's disease. It can be a very overwhelming and scary time.

Some children may live far away from their surgical hospital. You may have a consultant at your local hospital and you may have Open Access to the children's ward. This means you don't need to attend A+E to see a doctor, you can ring the children's ward and attend directly.

If you are worried, you can ask your doctor to call your surgical team for advice. You may also wish to attend the surgical hospital directly.

You know your child best and you know how your child presents when they are unwell, if you are in any doubt then please seek medical help.

Where do you sleep?

In the UK, you should be able to sleep alongside your child in the hospital. If your child is in Intensive Care or a High Dependency Unit, you may not be able to sleep alongside your child but may be offered accommodation elsewhere.

Some children's hospitals in the UK have a Ronald McDonald House or Sick Children's House Trust 'Home from Home' locally. Your nurse can refer you for accommodation.

What should I bring?

You can take as much as you like with you to hospital. If you have been attending hospital a lot, you may keep a bag packed at home 'just in case'.

You will always want to pack clothes, pyjamas and you may wish to take toys and things to keep you occupied such as books. For children in nappies or with a stoma, you will want to take your supplies with you.

You may want to take snacks and food as well as things that make it more homely. I always recommend chargers, earphone, moisturiser and lip balm.