Living without a diagnosis

All childhood liver diseases are rare but living without a diagnosis can be particularly difficult. This page contains advice and information for parents, young people and families who are in this situation.

The information on this page is for:

Parents of children with a liver condition.
Young people with a liver condition.
Family, friends, carers, and healthcare professionals.

Research and developments in science and medicine are continually advancing. For this reason, many believe that doctors can always diagnose a child’s condition. This isn’t always the case and it can be a distressing time.

Living without a diagnosis can be a lonely and frightening experience. Parents may worry that it may be their fault their child has a liver condition without a formal diagnosis. It is important not to blame yourself.

On this page:

Why are some liver diseases hard to diagnose?

Very rare conditions are sometimes difficult to identify. Finding a medical professional who specialises in particular conditions may take time, leading to a delay in diagnosis. It may also be the case that some conditions have similar features and symptoms which make it difficult to be accurate about a diagnosis.

Furthermore, certain features may not appear until your child is older, resulting in a delay or change of diagnosis at a later stage. A further reason may be that your child has signs and symptoms which do not fit into one specific condition.

At first it is extremely worrying and frustrating. You can’t help but think you must have done
something wrong at some stage and you keep asking yourself what it was and what the future holds for you.

– Parent

Why do I need a diagnosis?

It is natural to want to have a diagnosis. Without a diagnosis, parents have said they feel everyone’s lives are on hold. Trying to understand what is happening and facing uncertainty about the future can be very tiring, emotionally and physically.

Parents said they feel a diagnosis may:

help them to find out more about the disease, which empowers them when talking to doctors and other professionals
enable them to speak to other parents whose children have the same disease
help as their child grows up as they often want to know why this happened and what the cause is

It’s important to remember:

Care or treatment should be tailored to your child’s needs, not to the name of their condition. However, a diagnosis may enable a more focused care or treatment plan.
You are entitled to have a social services assessment of your child’s needs and your needs as a parent/carer, whether your child has a diagnosis or not.
You are entitled to apply for benefits such as Disability Living Allowance (DLA) even if your child does not have a diagnosis. It is sufficient that they have some form of disability even if this has not yet been formally diagnosed.
If required, your child may be entitled to extra support to help them at school.
It may be more difficult to find travel insurance if you are unable to name your child’s condition. Syndromes Without A Name (SWAN) UK is a national network for families
with children with undiagnosed genetic conditions. This community may be able to signpost you to helpful insurance services.

The hardest thing about no diagnosis is not knowing what the future holds and not being able to research a specific condition. Only time will tell which way things will go and some days that
is really tough. It’s also hard to find other people in the same situation so it can feel a bit lonely at times.

– Parent

How do you cope without a diagnosis?

When we encounter a difficult or stressful life situation, we react in various ways to try to make the situation better or to decrease the difficult feelings that the situation has created. These reactions are called coping responses. There are two main types of coping strategies: emotion-focused and problem-focused.

Emotion-focused coping strategies involve anything a person does to feel better or less stressed in order to decrease the negative feelings. This may include:

expressing feelings to a friend
taking medication to reduce anxiety
meditation
going shopping
going for a walk or run
going to the movies

Problem-focused coping strategies involve anything a person does to try to change and improve a situation. This may include:

creating a to-do list
preparing questions
asking friends for help or advice
contacting people for information
making a compromise

If you are in a relationship, you may find that you and your partner cope in different ways, or even similar ways but at different times. This can be frustrating or difficult to understand. It is important to try to respect and understand how the other person is coping and allow them the space and time to do things in their way and time.

There are no right or wrong answers to the way in which we cope. It may be helpful to think about or even keep a diary of your feelings and the coping strategies that you adopt.

What can parents do?

Hospital appointments and investigations

Tests and investigations may be carried out in order to eliminate or provide evidence for a range of possible conditions. Each test result is like putting a piece into a jigsaw puzzle. On its own it will give some information but putting it together with other test results, the history of your child’s condition and how they are in themselves, will be much more useful.

Hospital appointments also provide the opportunity for you and your child to ask questions. Liver UK provides further information on preparing for an appointment.

Find out more about hospital appointments

Try to be as involved as possible with your child’s care — ask lots of questions and don’t feel overawed by doctors.

Find out who's who

Whilst trying to find a diagnosis you may find that you come into contact with a wide range of professionals. As you meet each professional it may be helpful to write down their name, contact details and profession. This will help you to contact them, should you have any more questions.

Keep records

Keeping up-to-date medical records and taking them along with you to each appointment, especially if you have a shared care programme, can help your local hospital to understand. Keeping a diary as an ongoing picture of your child’s development may not alter how things are, but it may give a perspective to health professionals and others who monitor your child. Writing down your own thoughts and feelings may also help to release some of your frustrations.

Keeping a list of all the ways your child is affected and taking copies to professionals involved in the care of your child can also save you from repeatedly having to explain your child’s medical problems.

Keep detailed records about how the illness affects your child so that you can be exact about what happened and when.

Persistence and speaking up

We know that this is a very anxious time for you. It is easy to become confrontational and frustrated. It is helpful if you can find ways of working in co-operation with professionals.

At the same time, you may have to be politely persistent. Often parents feel they have received help because they were prepared to speak up. If you feel strongly that all avenues to try to get a diagnosis have not been explored, you should discuss this with your child’s doctor or paediatrician. You know your child. If something doesn’t feel right or if you are uncertain then say so.

Part of Liver UK’s role is to empower you as a parent. You may like to contact our Families Team to talk through your concerns.

Research

Through research new diagnoses are being made all the time. In order to do so, hospital teams often ask parents to give permission to take excess tissue from tests such as a liver biopsy or blood samples so they can be stored and used for research years later. You can help by giving consent which may help other families and/or your own child in the future.

Accurate information

You may want to find written information about your child’s condition and the internet is an important information source. It is important to remember that anyone can upload information to the internet. The information you find may not come from a reliable source or could be out of date, so it is worth checking with a medical professional.

Researching every condition that is being investigated can be very time consuming and may cause unnecessary concern and confusion. Medical professionals may be eliminating conditions in order to get closer to finding the right diagnosis.

Liver UK has an extensive range of literature available for families, friends, relatives and young people. Each of these leaflets has been carefully written with assistance from appropriate specialists. We have also received PIF TICK accreditation for our information production process.

Find out more about finding health information online

Despite feeling isolated and unique we now know there are a number of families in our situation. This doesn’t make day to day living easier but does let you know you’re not alone in your feelings.

– Parent

Additional help and information

Your child's hospital team

Your child’s hospital team can be contacted for additional help and information. They may be able to signpost or refer you to specific support to help your individual circumstances. The
people available will vary in each hospital but possible team members you can speak to are:

clinical nurse specialist/liaison nurses
play specialists
psychologists
specialist social workers
family support workers

National organisations

Contact a Family – www.contact.org.uk
This is a charity providing support and advice to parents whose child has a medical condition or disability. They can provide financial and benefits advice, information leaflets, information on support groups, contact with other families and other sources of support.

Genetic Alliance UK – www.geneticalliance.org.uk
A national alliance of organisations. The group’s primary goal is to promote awareness and understanding of genetic disorders so that high quality services for people affected by genetic
conditions are developed and made available to all who need them.

Rainbow Trust Children’s Charity – www.rainbowtrust.org.uk
A charity that supports families with a seriously ill child aged 0–18 years who are in the greatest need and require bespoke support. They offer family support workers in nine locations across the UK who provide emotional and practical support for families at home, at hospital and in the community.

SWAN (Syndromes Without A Name) – www.geneticalliance.org.uk
This is a group providing support and information to families who have a child with an undiagnosed condition.

Financial support

Support can be gained from your local Citizens Advice Service. The direct government website provides a list of all public services all in one place.

www.citizensadvice.org.uk

www.direct.gov.uk

Counselling services

The British Association for Counselling and Psychotherapy (BACP) or Counselling Directory can be helpful if you feel psychology and counselling services would be beneficial for you and your family.

www.bacp.co.uk

www.counselling-directory.org.uk

You can also contact your GP and request free counselling through the NHS. This may be difficult in some cases due to waiting lists and prioritising those most in need but it is always
worth enquiring.

There may also be local charities/voluntary organisations/schools who can offer low cost or free counselling services in your area. Liver UK’s family support team can help you to find these if you require assistance.

Useful links
Living with a liver condition
Liver conditions
How we can help

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How Liver UK can help

A diagnosis of liver disease can be worrying, and you may have a lot of questions.

We're here for you and for your family and friends. Whether you have questions or just need someone to listen, we can help.

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This content was last reviewed: March 2020

Our expert reviewers:

We would like to thank everyone who helped with creating and reviewing this page. This information has been produced with input from the three specialist paediatric liver centres in the UK. And with parents and families.

Find out how we make our patient information.

Everyone’s experience of liver disease will be different. Always talk to your specialist medical team for personal advice.