Hirschsprung’s disease – what are the signs and symptoms of Aganglionosis

Hirschsprung’s disease – what are the signs and symptoms of Aganglionosis
Hirschsprung’s disease – what are the signs and symptoms of Aganglionosis

Introduction

Hirschsprung’s disease is a rare condition that causes poo to become stuck in the bowels. It mainly affects babies and young children.

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.

This can cause severe constipation, and occasionally lead to a serious bowel infection called enterocolitis if it’s not identified and treated early on.

However, the condition is usually picked up soon after birth and treated with surgery as soon as possible.

This page covers:

Symptoms of Hirschsprung’s disease

When to get medical advice

How Hirschsprung’s disease is diagnosed

What causes Hirschsprung’s disease?

Treatments for Hirschsprung’s disease

Outlook for Hirschsprung’s disease

Symptoms of Hirschsprung’s disease

Symptoms of Hirschsprung’s disease are usually noticeable from soon after a baby is born, although occasionally they’re not obvious until a child is a year or two old.

Signs of the condition in a baby include:

  • failing to pass meconium within 48 hours – the dark, tar-like poo that healthy babies pass soon after being born
  • a swollen belly
  • vomiting green fluid (bile)

Signs in older infants and children include:

  • a swollen belly and a tummy ache
  • persistent constipation that doesn’t get better with the usual treatments
  • not feeding well or gaining much weight

If your child develops a bowel infection (enterocolitis), they may also have a high temperature (fever) and watery, foul-smelling diarrhoea.

When to get medical advice

Visit your GP if your child develops the symptoms described above. Hirschsprung’s disease can be serious if left untreated, so it’s important to get help as soon as possible.




If your GP suspects the condition, they will refer you to hospital for tests to confirm the diagnosis.

How Hirschsprung’s disease is diagnosed

Your child’s tummy will usually be examined and sometimes a rectal examination may be carried out. This is where a doctor or nurse inserts a finger into the back passage (rectum) to feel for abnormalities.

If Hirschsprung’s disease is suspected, an X-ray can be done to show a blockage and bulge in the bowel.

The diagnosis can be confirmed by doing a rectal biopsy, which involves inserting a small instrument into your child’s bottom to remove a tiny sample of the affected bowel.

This is then examined under the microscope to see if the nerve cells are missing.

What causes Hirschsprung’s disease?

The muscles of the bowel are controlled by nerve cells called ganglion cells. In Hirschsprung’s disease, these ganglion cells are missing from a section at the end of bowel, extending up from the anus, the opening in the bottom that poo passes through.

For some reason, the cells didn’t develop in that area when the baby was growing in the womb. It’s not clear why this happens, but it’s not thought to be caused by anything the mother did while she was pregnant.

A number of genes are associated with Hirschsprung’s disease and it does sometimes run in families. If you’ve had a child with it before, you’re more likely to have another child with it.

The condition is occasionally part of a wider genetic condition, such as Down’s syndrome, but most cases aren’t.

Treatments for Hirschsprung’s disease

All children with Hirschsprung’s disease will need surgery.

As they wait for surgery, they may need to:

  • stop having milk feeds and instead be given fluids directly into a vein
  • have a tube passed through their nose and into their stomach to drain away any fluid and air collecting in it
  • have regular bowel washouts, where a thin tube is inserted into their bottom and warm salt water is used to soften and flush out the trapped stools
  • take antibiotics if they have enterocolitis

Your child may need to stay in hospital during this time, or you may be able to look after them at home. Your doctor will advise you about this.

Surgery

Most children will have the “pull-through” operation, where the affected section of bowel is removed and the remaining healthy sections of bowel are joined together. This will usually be done when they’re around three months old.

If your child isn’t well enough to have this procedure – for example, because they have enterocolitis or a severe blockage – they may have it in two stages.

A few days after birth, the surgeon will divert the bowel through a temporary opening (stoma) made in the tummy. This procedure is called a colostomy formation.

Stools will pass directly out of the opening into a pouch worn on your child’s body until they’re well enough to have another procedure to remove the affected section of bowel, close the opening, and join the healthy sections of bowel together. This is usually done at around three months of age.

These procedures can be done using either:

  • laparoscopic (keyhole) surgery – this involves inserting surgical instruments through tiny cuts
  • open surgery – where a larger cut is made in your child’s tummy

Speak to your surgeon about the best option for your child.

Risks of surgery

No surgery is risk-free. There’s a small chance of:

  • bleeding during or after the operation
  • the bowel becoming infected (enterocolitis)
  • bowel contents leaking into the body, which could lead to serious infection (peritonitis) if not treated quickly
  • the bowel becoming narrowed or blocked again, requiring further surgery

Recovery from surgery

Your child will probably need to stay in hospital for a few days after surgery. They’ll be given pain-relieving medicine to make them comfortable and fluids into a vein until they can manage food.

No special diet is needed once you get home, but it’s important they drink plenty of fluids as they recover.

Your child should recover well and their bowels should function normally after surgery.

At first they’ll probably have a sore bottom when they poo. It can help to leave their bottom open to the air whenever possible, and use baby oil to gently clean their bottom as well as nappy cream after each change.

Call your doctor immediately if your child develops problems such as a swollen belly, fever, or foul-smelling diarrhoea.

Outlook for Hirschsprung’s disease

Most children are able to pass stools normally and have a normal functioning bowel after surgery, although they may take a bit longer to toilet train.

Some may experience persistent constipation and need to follow a high-fibre diet and take laxatives. Your doctor will advise about this treatment.

A small number of children have problems controlling their bowels (bowel incontinence), which can last until they’re a teenager and be very distressing.

Speak to your GP if this is a problem. You can also read advice about soiling in children.

Autism and Down Syndrome: Self-Awareness Series – Find out more about these important books by Michelle Lucci

Ms Lucci and her brother
Ms Lucci and her brother
My name is Michelle Lucci, and I am a sibling of someone with special needs.  My brother, Tony, has Down Syndrome, and he inspired me to become a special education teacher.  I earned my bachelor’s degree from Franciscan University as an Intervention Specialist and my master’s degree from West Virginia University in Multiple and Severe Disabilities. I taught middle school students with special needs for five years before my health forced me to retire.  Now I use my skills and education to write textbooks and make educational materials for students with significant disabilities.

The Self-Awareness Series are books written to start a conversation between an adult and an individual with special needs. The books are written as clearly and gently as possible to promote positive self-esteem, as well as self-acceptance and awareness of weaknesses. They can also be used in special education classrooms for learning how to use reference books.

Growing up, my parents didn’t talk to my brother Tony about his disability. As a result of my education and experience teaching, I realized it would benefit my brother if my parents were to talk to him about his disability. I encouraged my parents to do so, but they were not sure why we should tell him he has Down Syndrome if he isn’t aware.

Think about it this way. Let’s say you have trouble doing something. If you understand why it is challenging for you, you can identify and label the weakness, and as a result, you can strengthen it by finding solutions that help you adapt. For example, I struggle with spelling. Because I have identified that weaknesses, I have found solutions to adapt. I use spell check, ask Siri to spell words for me, and when in doubt, I use a synonym.

Ms Lucci's book on autism
Ms Lucci’s book on autism
Our loved ones often attend their IEP meetings at school as quiet guests and don’t really understand what is going on or why they are there.  If they understand their disability and their weaknesses, they can understand why the adults in their life are working on a plan to help them be successful in school.

Knowledge is power. It is important for our loved ones to have awareness of their own disabilities.  If they are able to identify and understand their weaknesses, then it promotes control over their lives and positive self-esteem.  If they understand why they are different and that there is a reason for why they are the way they are, then they can focus on their strengths, talents, and what makes them special!

The books are available on Kindle. http://www.amazon.com/s/ref=sr_nr_seeall_3?rh=k%3AMichelle+Lucci%2Ci%3Adigital-text&keywords=Michelle+Lucci&ie=UTF8&qid=1461083241

Improving Social Skills: How to Raise a Socially Intelligent Child

How well your children use social skills, determines how well they function in society. Raising social intelligence lets kids interact with friends, family, and teachers. By knowing how to communicate and behave around others, they can connect with people. And all kids deserve the same chance at achieving social happiness. Kids with Autism Spectrum Disorder (ASD), Down syndrome, Social Anxiety, Attention Deficit Disorder (ADD), just need a little bit more patience.

Teach your kids to treat others, the same way they would want others to treat them. When kids adopt positive social values, people will feel good around them. To achieve this, be smart about how you teach your kids to be social intelligent.

Improving Social Skills: How to Raise a Socially Intelligent Child
Improving Social Skills: How to Raise a Socially Intelligent Child

During childhood, kids look to parents for guidance. But, what kids never tell you is they also observe your every action, and learn from it. How you conduct yourself in everyday situations can influence your child’s social intelligence. Teaching kids social skills can be as simple as being well-mannered yourself. By being exposed to this, kids will reflect your character traits as their own. They will become thoughtful, respectful, and polite to others. It is also important to express those values when interacting with your child. This is especially true for kids suffering from autism and social anxiety. By exposing them to constructive behavior, kids will learn to overcome personal setbacks with positive social values.

Play to Learn

Improving Social Skills: How to Raise a Socially Intelligent Child
Improving Social Skills: How to Raise a Socially Intelligent Child

Play games to help your kids develop complex social skills. This can be a great informal learning method, which can benefit kids’ with ADD. A familiar activity can help with abstract notions of personal space, and non-verbal communication. Role playing is a great way of teaching kids how to act in various situations. They will become socially polite, and learn how to read body language. Create cue cards, to help kids learn how to read facial expressions through reenactment. While kids with autism and social phobia can practice maintaining eye-contact with a simple staring game.

Communication

How well you communicate with your child, reflects how well they interact with others. Use positive reinforcement, to encourage kids to engage in conversation. This reflects your affection and interest, teaching them to be comfortable when expressing ideas. You should also listen to your kids when they talk. Knowing to contribute to a conversation, will create an air of confidence around them. But, they need to listen as well. This can be hard for children with Down syndrome and ADD. So, let them initiate the conversation, and then speak your mind to keep their focus. When addressing bad behavior, always use assertiveness to convey your point. Assertive communication will divert their actions from bad to good, without bruising their self-confidence. And when they learn to use it, they will be able to successfully manage conflict situations.

Throw a Party

Parties play a significant role in rewarding children’s milestone achievements.

Autism
Autism

But, they also provide the perfect opportunity for improving social skills. Children have a chance to practice what they have learned, while having fun with friends. Parties are also the perfect place to meet people, and create new friendships. With everyone celebrating your child, parties can also boost their self-confidence in public appearances. Thus, parties can have a positive effect on children suffering from autism, depression, and social anxiety.  Arrange a costumed superhero party as a way of overcoming psychological barriers. By adopting the role of their favorite superhero, socially impaired kids can neutralize differences, and defeat their fears.

Take a Step Back

 Taking a step back may be hard, but sometimes it is the only way your children can learn. Letting kids experience social interaction first hand allows them to discover how things work. They will rely on themselves to experiment, refine, and implement the skills they gained. It will be a chance to build their self-image, and find ways to connect with people. They will learn to overcome the fear of rejection, and to cope with setbacks. A thicker skin will let them search for social acceptance, and affection they receive from you. And when they realize their full potential, kids can achieve social happiness.

In learning to accept themselves, they can overcome any personal difficulty. Using social skills intelligently, will allow them to find people who appreciate them. In doing so, they can achieve love, happiness, and friendship throughout their life.

About author:

Tracey Clayton is a full time mom of three girls. She loves cooking, baking, sewing, spending quality time with her daughters and she’s passionate for writing. Her motto is: “Live the life you love, love the life you live.”

Parental views of raising a child with Autism or Down syndrome – please help a student at University of Derby with her research

A third year Psychology dissertation from the University of Derby, looking at parental views of raising a child with Autism or Down syndrome focusing on social stigmas and stresses.

University of Derby
University of Derby

Supervised by Dr Simon Bignell PhD, Cpsychol and Senior Lecturer at the University of Derby.

Ideal participants

Parents who have a child diagnosed with Autism or Down syndrome, there is no age restrictions on this study.

What the study involves

The study entails taking part in a short online questionnaire, which are a mixture of multiple choice and written response questions. The questions will involve:-

 Opinion on whether there are stigmas associated with the disorder
 Whether the disorder creates extra stress
 Whether information and support are in place to help at different points after diagnosis

If you would like more information about the study or would like to participate please contact Fiona Smith on f.smith8@unimail.derby.ac.uk


mumsnautism.net – Dorly O’Sullivan tells us her autism blog in this fascinating guest post.


http://mumsnautism.net/
http://mumsnautism.net/
As many of you know one of the objectives of PatientTalk.Org is to spread the word about different healthcare blogs. You know the ones written by the real experts (ie us) not being barked at my healthcare professional who knows little about our lives once they clock off in the evening.

Do today I am delighted to introduce a new blog called mumsnautism.net by Dorly O’Sullivan where she writes about the experience of being a parent with a child with autism. You can read O’Sullivan’s blog here.

She writes ” There are a lot of “us” out there. Parents, carers and other family members who live with young adults who are in the Autistic Spectrum (ASD) or have a dual diagnosis of Down Syndrome and Autism (ASD DS).

We want to protect our young people, or even not so young people. So there are things we don’t talk about. We don’t talk about antisocial behaviour, and we don’t talk about aggressive behaviour.

This doesn’t help our people, and it doesn’t help us. In order to find new ways, we have to face up to our challenges and accept them for what they are. Talking about it, sharing our experiences will empower us, and this in turn will enable us to find new ways to help or young people not to become even more isolated than they already are.


Let’s talk. And listen.

The idea of writing a blog came to me after reading an article in the Weekend Review of The Irish Times, May 30. 2015, by Rosita Boland, “Linda and Jake”. Linda’s son Jake has ASD and I think he is about 14. Linda feels very alone with her issues. One of them is aggressive behaviour. She says, “I wish people would talk about aggression”, and I agree with her.

Living with autistic people who display aggressive behaviour is a form of domestic violence, even if the perpetrator is not to blame and we love him / her to bits. It still hurts. We still have to find a way to live with it. Aggressive behaviour outside the home is limiting a good social life enormously for the young person concerned.

Other people will have other issues.

Let’s talk. And listen.

I’m not a professional. I’m a mum. I can only tell you about my experiences with my son. I would love to hear about your experiences, whether you are a mum or a dad or a carer or a family member. I would love to hear about your experiences, if you are a person with ASD. There is a great range in intellectual abilities in people with ASD, my son happens to be at the lower end of moderate intellectual disability, he cannot tell me anything verbally. But others can. I want to help him to have a fulfilled life. He can’t talk, but he can feel, he can experience. Just like the rest of us.

My stories are about my son, not about aggression. But aggression is a part of it.

My hope is, that the blog will eventually develop into a forum.

What is your story?”