Hirschsprungs explained 

Disclaimer: I am not a doctor – seriously, although…I may have watched a lot of episodes of embarrassing bodies thats not a recognised medical qualification. This is my understanding of the condition – the condition simplified. 

Who/what/why?

Basically when a baby is developing in the womb one of the first things to develop is its digestive system. Starting with the mouth and throat – the cells reproduce creating the stomach and keep going to produce the small intestine and then the large intestine. Crucial to making the intestines work are nerve cells called ganglion cells. These nerve cells tell the muscles in our intestines to relax and let stool pass through. Without these our intestine is permanently contracted and stool can’t get through (like a tunnel that’s caved in). In Hirschsprung’s disease these ganglion cells are missing from part of the intestine: there are a different names for the condition depending on how much of the bowel is missing the cells:

Ultra Short segment Hirschsprung’s disease (USHD).

Short segment Hirschsprungs disease (SSHD).

Long segment Hirschsprung’s disease (LSHD).

Total colonic Hirschsprung’s disease (TCHD) this is all of the large intestine and some of the small intestine

Why: When we found out he had the condition I felt sick, sick to my very core, questioning was it something I had done? Was it my fault? I had worked too hard when I was pregnant, got stressed too frequently, eaten badly, not gone over speed humps slow enough, broke sharply in the car, forgotten to take my vitamins. But they aren’t sure why the condition develops, some believe it could be something hereditary, a faulty gene, some researchers feel there is a link between a family history of both thyroid and digestion/GI problems. But importantly they don’t think it’s anything the mother did when she was pregnant and at the moment it isn’t something they can prevent from developing.

Symptoms: The condition is usually picked up shortly after a child is born when they dont have a bowel movement. Other symptoms that often come along side this are bilious (green) vomiting, a distended (sticky out and swollen and hard) stomach, lack of appetite and lethargy (sleepy). However the condition can be diagnosed in older children who have been having bowel movements but suffer from extreme constipation. 

Diagnosis: The condition is usually diagnosed by a rectal suction biopsy (RSB). A special tool is used that sucks a few cm of the bowel nearest the anus in and takes a few snips out for testing in the lab. These biopsys are then sent off to a pathologist who cuts them in to super fine slices and stains them and looks for ganglion cells – or more specifically looks for them not being there. This is supposed to be a very definitive method of diagnosing the condition so it has a ‘gold standard‘. This is done while the child is awake and not under general anaesthetic.

Barney had three of these done in two different hospitals – expect some bleeding (just a bit nothing too heavy) for 24hours or so after this is done. Generally the child will also be uncomfortable because after one of these is done you can’t do a rectal washout for 24hours. But supposedly the procedure itself isn’t painful, as there isn’t the right nerve endings there or it to be painful. One doctor described it as being similar to biting the inside of your cheek.

If this test is inconclusive a strip biopsy can be done. This involves removing a bigger strip/piece of the intestine to send to the lab. This is done under general anaesthetic as it’s more invasive. (From speaking to parents – I have known these to be done because when the RSB takes its biopsies it misses the section that is missing ganglion cells. As the section that’s missing them is so close to the anus). 
Other means used to help identify the condition are X-rays and a barium enema. X-rays by themselves show how full the intestine is – and these are like enlarged/swollen loops. The barium enema X-ray is slightly different as contrast material containing barium is put into the anus and then an X-ray done – the barium then means the large intestine can then be seen clearer on an X-ray and they can see the affected segments. However these two usually aren’t considered enough on there own (without a biopsy) to give a diagnosis of hirschsprungs.

Complications: 

Enterocolitis: The condition is usually picked up shortly after the child is born. However if it isn’t it can be fatal. This is because children with this condition can develop an infection called hirschsprungs enterocolitis. Hirschsprungs enterocolitis – for a child without hirschsprungs might just be a tummy bug like norovirus, however for someone with this condition it’s much more serious. Before the pull through operation (when the child can’t poo) – unlike a non HD child who would get diarrhoea and vomiting and manage to clear the bugs out of their body by vomiting and having bowel movements – a HD child can’t do the diarrhoea part. So the bacteria multiplies in their gut. This can be fatal if not picked up and treated early enough because of two things, either the child becomes so dehydrated or the infection goes into their blood stream and they get scepticimia. Symptoms to look out for are lethargy, off their food, diarrhoea, vomiting, distended abdomen, fever, foul smelling bowel movements. If you suspect hirschsprungs enterocolitis – you must take your child straight to A&E as soon as possible, it can become extremely dangerous in a matter of hours. Hospitals will treat the child with IV antibiotics (flagyl also known as metronidazole), nil by mouth and rectal washouts. They aren’t sure why but even after children have had the corrective procedure (pull through operation) they are still very prone to getting this infection, so unfortunately it’s something you have to keen an eye on for years. So I avoid friends and family with tummy bugs like the plague!

Stoma
: Lots of children have to have a temporary stoma fitted. This is when part of the intestine is brought out through an incision in the stomach and the poo is collected in a bag. As far as I understand these are fitted for two reasons:

1. They cannot decompress the child enough with rectal washouts. So a stoma is fitted – usually if this is the case this will be done at a few days old. This is reversed at a later date when the child is older, usually after the pull through operation has been performed and had time to heal.

2. When they perform the pull through operation they don’t feel the blood supply to the area is good enough – so they fit a stoma to allow that area of the bowel to rest and heal. 

From what I have heard from parents there is lots of good support from specialists nurses available if your child has one of these. You are trained while still in the hospital to do the bag changes. Downsides are things like skin nearest the stoma breaking down – as it’s abdomen skin it’s not used to fecal matter and lots of creams and powders have to be used to stop this. Bags splitting/breaking. Babies pulling bags off. But I have also heard positives from parents – no need to do washouts which can be more stressful and time consuming for parent and child, much easier to monitor and measure their output, also no severe nappy rash on their bottoms.

Treatment:

The condition is treated with a Stoma or daily rectal washouts until a pull through operation is performed. The pull through operation can be done varying ways – key hole, open surgery, or through the anus. And there are three ways of doing the actual pull through itself – Duhamel, Swenson and Soave. 

The operation is a long one, Barneys took almost 8 hours. But they seem to average about 6. It’s split into two or three parts.

Part One: the surgeon going in and doing biopsies inside the large intestine to map out the areas missing the cells. They do a lot more biopsies then they have done before, at say every few cm. Once they have done this (a process which takes a few hours as they do the biopsies then wait for the lab (who are on standby) to give results) they then understand how much of the intestine has been affected by the condition.

Part two: Now they know how much is affected they then they find the completely healthy part of the bowel (which has ganglion cells) and pull this down to the rectum. So the poo can now get from higher up in the intestine to the rectum without getting stuck in a section that’s missing cells. The different methods Swenson, Soave and Duhamel all do this pull through in slightly different ways. (Advice: do your research into these and their success rates and which you feel will be the best for your child, your surgeon will probably specialise in a particular one but if you feel strongly you can always change hospitals).



Part three: if they haven’t been able to decompress the child with washouts they may fit a stoma. Also if they do this operation and the area where the pull through is doesn’t have a good blood supply they will fit a stoma – this works by diverting the poo so it comes out of the stoma in the abdomen, allowing the bowel and pull through time to heal and recover with poo passing through it. 

Transition zone: this is an area of the bowel above the part which is missing cells – this area has some cells but may not have 100% of the cells. Pull through operations may need to be redone if the surgeon has pulled down part of the transition zone as opposed to completely healthy bowel.

Complications: infections, scar tissue, bleeding, failed pull throughs, nappy rash.

After the operation: Bee was lucky he had SSHD and there was no need for a stoma. His recovery was also straight forward so we were discharged after 5 days, but told to stay in the local area. Children are kept nil by mouth and given fluid drips for the first few days to give their bowels time to rest and heal. Bee had his op on Monday and was finally allowed to eat by Thursday. But some children are kept nil by mouth for longer and fitted with a tpo line to feed them. We were warned his hospital stay could have been up to two weeks.

Nappy Rash – we were warned by our surgeon to expect nappy rash after the operation. I know what your thinking what’s the big deal right – but I’m talking no skin, completely raw horrific nappy rash. Our surgeon was blunt – he used the word raw about 6 times and told us Bee would likely scream every time he went to the toilet. Part of this is because they have never had poo on their bums before. The other part is because their poo is acidic and finally the pure frequency of bowel movements doesn’t help. We created a strategy based on things I had heard from other HD parents to combat this (but that will have to be a whole blog post on its own).

Long term – the outlook: this varies from child to child depending on severity of the condition and how much of the bowel has been affected, and how successful the surgery is but generally from the research I have read they have either got the condition under control or learnt how to manage it enough that by their late teens it shouldn’t be lowering their quality of life. 

Some children have the pull through operation and never have a problem again, others suffer with constipation and 30% can be varying degrees of incontinent. Some children also have problems caused by scarring, sutures and muscle spasms. They also are still susceptible to Hirschsprung’s enterocolitis for years after the operation – the jury is out on why this is – as after all, if they can have bowel movements and have healthy bowels they shouldn’t be more susceptible to infection.  

Oh and again not to play it down at all, the nappy rash can be a horrendous problem that parents have to battle for a really long time too.

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