This guide is for people who think their child may have a rare condition and are seeking a diagnosis for them using NHS services in England.
In this information we have used the term ‘your child’ but we recognise that there are a variety of relationships (e.g. foster child, child cared for by a guardian/grandparent, etc.) This guide gives information on seeking a rare diagnosis for a child.
If there are words or terms in this information that you don’t understand, please use our glossary which explains genetic and medical terms in plain English.
Jump to page contents
- How do I get a diagnosis?
- How to access NHS genetic services and testing for children
- Genetic testing for children | what to expect
- What is genetic counselling?
- How long does it take to get results from genetic testing?
- What can getting a diagnosis mean for me, or my child?
- Why are some conditions difficult to diagnose?
- Coming to terms with a diagnosis of a genetic or rare condition, or with not finding a diagnosis
- Your healthcare rights
Download our leaflets
In these leaflets you can find all the information from this page in simple PDF format. You can print at home, make notes and take them with you to appointments.
Leaflet 1
GP appointments | Accessing NHS genetic testing for children | Your healthcare rights
Leaflet 2
Genetic testing for children - what to expect | Genetic counselling | How long does it take to get test results? | Your healthcare rights
Leaflet 3
What a diagnosis can mean for you or your child | Why are some conditions difficult to diagnose? | Coming to terms with a diagnosis or lack of diagnosis | Your healthcare rights
How do I get a diagnosis?
If you have concerns about your child’s health you can talk about them with your GP or your health visitor.
Your GP or health visitor should listen and then discuss your concerns with you, examine your child and consider options. If they are unable to offer a diagnosis, they may refer you to other healthcare professionals.
Your GP may refer your child to a paediatrician for their opinion. A paediatrician is a doctor who has special training in medical care for babies and children.
Your GP may also refer your child to a nurse or a healthcare professional who can help with symptoms. For example, if your child is experiencing muscle weakness then they may be referred to a physiotherapist. A physiotherapist is a healthcare professional who helps people using movement, exercise, massage, advice and other techniques. Nurses and healthcare professionals may be able to help you obtain a diagnosis for your child.
If a genetic condition is suspected by your GP or paediatrician, a referral to an NHS genetics service will be arranged for your child. You can also ask for this referral to be made.
Genetic services offer a range of care and cover agreed areas nationally. More information on Regional Genetic Services is on our website.
It may take a long time to find a diagnosis of a rare condition and it may be that diagnosis is not possible. However, there is support available to families at all stages of their journey.
On your journey to diagnosis, you may find that you have to wait a long time for an appointment or test. You may be placed on a waiting list. This can be frustrating and you may be unsure how to seek help while you are waiting. NHS England has launched the My Planned Care website which provides information about waiting times and where you can access support while you wait.
- It is a good idea to think about what your GP needs to know before your appointment. They will want to know about your child’s symptoms, when they started and how often they have them.
- Take along any record of dates of when your child met development milestones such as sitting, smiling, walking, talking, etc. If you have your child’s ‘red book’ which captures your child’s key development milestones and growth pattern then take it with you to the appointment.
- If any family members have had similar symptoms and experiences or if there are conditions that are common in your child’s family, you may want to tell your GP about them.
- If you suspect that your child may have a particular rare condition, tell your GP.
- Remember to tell your GP if your child has any other existing health conditions.
- It’s OK to ask for an interpreter if you need one. It is important to arrange this before the appointment.
- Remember to tell your GP about any medication that your child is taking or has taken in the past.
- During the appointment, if you don’t understand something then ask your GP to explain or write it down for you. It’s OK to ask your GP to repeat something you haven’t heard or understood fully.
- You might want to take some notes during the appointment, or maybe even record the discussion on your phone to review later. It is important that your GP agrees to you recording the appointment, so always ask first.
- If you feel you need support during the appointment, you can take a friend or family member with you.
- At the end of the appointment make sure you are clear about what the next steps are, what you are expected to do (for example, you might need to phone for test results) and what your GP is expected to do. You can ask your GP to write down a summary of what will happen next.
- Hopefully, you will feel that your GP has listened to you and is taking action to find out what is making your child unwell. However, if you feel that your GP hasn’t listened to you or has ignored the information you have given them, you can ask for another opinion. The Patients Association has a helpful guide on seeking a second opinion.
How to access NHS genetic services and testing for children
There are genetic services and tests available through the NHS. You might be offered NHS genetic services if your doctors think that you or your child might have a genetic condition or think that you might pass a condition onto your child.
To get a genetic test on the NHS, your doctor must think it is likely that you or your child has a genetic condition or that you could pass a genetic condition on to your child. A doctor might ask for information about things like family history of genetic conditions or any symptoms that your child has.
If you think you might have a genetic condition or that you might pass a condition onto your child, it is important to speak to doctors so that you can be assessed for NHS testing. This ensures that the most appropriate genetic test is undertaken and the results are explained to you by the doctor who arranges the test.
If your child is referred to NHS genetic services, you might speak with a genetic counsellor. These are healthcare professionals who you can talk to about genetic condition diagnosis, such as the risks and benefits of a genetic test and exactly what it would mean for you and your family to get a diagnosis or not.
Genetic services offer a range of services and cover agreed areas nationally. Our website has information on Regional Genetic Services as well as information on direct-to-consumer genetic testing.
Depending on your situation, the first step to getting a genetic test on the NHS is usually to speak with your GP in order to get a referral to genetic services. If you have family members who are already diagnosed with a condition, it might be that you can speak to genetic services directly.
Genetic testing for children | what to expect
After being referred to an NHS regional genetics service you will usually be sent a leaflet or letter explaining what will happen when you attend the clinic for your appointment.
This letter will often ask you to bring your child with you to the appointment if you are seeking a diagnosis for them.
The history of the symptoms your child currently has or has had in the past is a key part of the assessment. You may want to think about this before your appointment and make a list. Focusing on these things can sometimes feel upsetting, but it can build a picture of your child’s symptoms.
You may also want to make a list of any medication that your child is taking or has taken in the past to share at your genetics service appointment.
If you are a single parent or your partner cannot attend the appointment with you, you may wish to take along a family member or friend for support. They may also remember points about the appointment that you miss.
It’s OK to ask for an interpreter if you need one. It is important that this is arranged before the appointment.
- Before attending appointments, it is a good idea to write down any questions that you want to ask when you are there. It can be helpful to take a notebook with you.
- Some people record the appointment on their phone so that they can listen again afterwards. You should ask permission from the other people at the appointment before recording it.
- If you are worried you won’t remember some of the details at the appointment you can ask your healthcare professional to write them down for you to look at again later.
- You can also ask if you can have access to your child’s electronic record as this is now available at many hospitals.
Often at the start of the first appointment, you will be asked what you are hoping to find out, for example:
- A diagnosis for your child
- How your child might be affected in the future
- If any future children could be affected
- Whether other children in the wider family could be affected
Most of the appointment will be spent collecting information to help with the ‘genetic assessment process’. This is a diagnostic process where clinical geneticists (doctors who specialise in diagnosing and managing genetic conditions in individuals and families) work with laboratory staff and other medical professionals to explore the possible reasons for your child’s symptoms.
There are several different types of possible genetic changes. The cause of the condition might be a change in a single gene, or it might be that a chromosome has a piece missing (deletion) or an extra piece (duplication), or it may be that pieces of chromosomes have ‘swapped around’ (translocation).
Finding the genetic cause of your child’s symptoms can happen through a combination of investigations:
- Asking about your child’s birth and development in detail
- Asking about your child’s family medical history
- Physical examination potentially including photographs
- Laboratory investigations (if necessary, blood samples are taken during the appointment or shortly afterwards)
- Taking measurements, doing scans, etc.
The history of your child’s development and the pattern of symptoms that they currently have or have had in the past is a key component of the assessment. You may want to think about this before your appointment and make a list. Focusing on these things can sometimes feel upsetting, but it can build a picture of your child’s symptoms. It can be frustrating having to repeat your child’s history to yet another professional, but this is a very important part of the assessment. If you have your child’s ‘red book’ which captures your child’s key development milestones and growth pattern then take it with you to the appointment.
Asking about your child’s family medical history
It is likely you will be asked about your child’s family history to see if patterns can be found that might give clues to the cause of their symptoms.
You might find it difficult to describe your family history if your child is adopted or you have little contact with extended family members.
Family history is important because if the condition is genetic, then it may be the result of changes in genes or chromosomes that were passed down from one or both parents. However, many conditions can occur for the first time in a child, even when they are genetic. This is called ‘de novo’.
Sometimes it may be possible to make a diagnosis based on these historical descriptions alone without the need for genetic testing.
Physical examination potentially including photographs
The aim of a physical examination is to identify any physical features that might give a clue about a possible diagnosis. Photographs may be taken for your child’s medical records and can be useful for monitoring changes over time.
The healthcare professional performing the examination should explain why the examination is needed and take steps to make sure you and your child feel comfortable throughout the process. You may also be asked to sign a consent form.
Laboratory investigations
Once the healthcare professional has an idea about a potential diagnosis for your child, they may order laboratory tests straight away to try and confirm the suspected diagnosis.
Samples of your child’s DNA (and sometimes the parents’ DNA) will be taken to test and look for changes. The samples needed can vary and may include blood, saliva or skin. Other tests may include a scan of the kidneys or heart, x-rays or a specialist eye test.
The DNA samples will be sent to the laboratory, which will then analyse and interpret the results.
After the appointment
The genetics professional you see will usually write to you after the appointment summarising what was discussed and what is planned so that you have a written record of the appointment.
There can often be a long wait for results. Learn more about genetic testing by visiting the ‘genetic services and testing’ section of our website.
Rareminds Wellbeing Hub has a ‘Navigating Healthcare’ section with guidance on appointments and waiting.
You may find it helpful to read this guide from Unique that explains what happens during a clinical genetics/genetic counselling appointment. Unique are a charity who provide support, information and networking to families affected by rare chromosome and gene disorders.
What is genetic counselling?
You may be offered genetic counselling as part of your genetic testing. Genetic counselling is a service that provides support and information on genetic conditions.
Genetic counsellors are highly trained healthcare professionals who are skilled at helping you think through what having a genetic test or being diagnosed with a genetic condition might mean for you and your family.
It may involve:
- Learning about a health condition that runs in your family, how it is inherited and how relatives may be affected.
- An assessment of the chance of your child having an inherited condition.
- A review of the medical history of your family or your partner’s family and drawing up a family tree.
- Support and information if you have a child affected by an inherited condition and you want to have another child.
- Going through options that might be available to you in terms of testing a future pregnancy (also referred to a prenatal diagnosis). This is a very personal choice and you will be fully supported in whatever decision you make.
- A discussion about genetic tests, which can be arranged if appropriate, including the risks, benefits and limitations of genetic testing.
- Help understanding the results of genetic tests and what they mean.
- Information about relevant support groups.
- Being given clear, accurate information so you can decide what are the best options for you.
How long does it take to get results from genetic testing?
Genetic tests are complex and it can take a long time to get the results back from genetic testing.
It is worth asking whether there are any relevant research studies carrying out genetic testing, but there is no guarantee that this would return results more quickly.
Your genetics professional or another specialist may be able to update you on research trials that are already underway or are planned for the future.
There are also several websites with information on research into rare conditions:
Sometimes it is not possible to undertake genetic testing straight away. This might be because your child is too young for their physical features to give any clear ‘clue’ about what the underlying condition may be.
In these situations, you will usually be invited back for follow-up appointments several years later when there may be more clues because your child has developed, new medical knowledge has come to light, or a new test has become available.
This period is usually called ‘watchful waiting’. It can be frustrating and worrying waiting for answers. It can be helpful to ask your healthcare professional to explain how and when they will provide you with updates.
Genetic testing can take a long time and you may have to wait several years for any result. There are organisations that can support you while you wait.
SWAN UK (syndromes without a name) is a dedicated support community available for families of children and young adults with undiagnosed genetic conditions in the UK.
Rareminds Wellbeing Hub has a ‘Navigating Healthcare’ section with guidance on appointments and waiting.
What can getting a diagnosis mean for me, or my child?
A diagnosis can be important on a practical and emotional level. Having a genetic diagnosis can help you to:
- Understand your child’s condition and have a sense of how the condition may affect your child in the future
- Identify any health issues that need to be monitored
- Make informed care decisions, including identifying appropriate services, potential treatments and relevant clinical trials
- Understand whether others in your family will be affected by the condition and help with family planning decisions
- Access services and support for your child’s needs, for example educational support or social care services.
- Find support organisations to help provide information, support and reduce feelings of isolation
- Explain to other people in your life about your child’s health condition.
However, a diagnosis does not always mean things will change. You may find that your child’s care plan remains the same and you may continue to be supported by the same healthcare professionals.
Contact is an organisation for families with disabled children. Contact’s website has information and support on lots of subjects including education and learning, social care and family life, work and childcare. Unique are a charity who provide support, information and networking to families affected by rare chromosome and gene disorders. Unique’s guide called After diagnosis: what happens next? offers information and support following diagnosis of a genetic or chromosome condition for your child.
Wanting a diagnosis is not about expecting a cure or a magic wand… but knowledge is power.
SWAN UK community member
If your child has received a diagnosis of a rare condition, you may feel disappointed with the information you receive. For many rare conditions, information about the condition and its prognosis (the likely course of a medical condition) may be limited and you may find that you still have unanswered questions.
I wasn’t expecting a cure, I knew a genetic condition was lifelong, but I was expecting an understanding of what it meant… what I got was a string of letters and numbers.
SWAN UK community member
Having a diagnosis can help healthcare professionals better understand your child’s condition and help them find the information they need to support you.
I was relieved that all of our child’s seemingly unconnected symptoms could be explained by one diagnosis. My biggest fear the entire time had been that we would never find out what was wrong with her.
Parent of child with rare genetic condition
It is important to acknowledge that not everyone will receive a diagnosis. Some people may not be able to access the tests necessary to identify their child’s condition, while others may be affected by a condition that is so rare it is yet to be understood by science. Without a diagnosis, you should still be able to access services and support based on your child’s needs. For example, social care services and education support are intended to be provided based on a person’s needs, not their diagnosis. Contact’s website has information on accessing on social care.
Receiving a diagnosis of a rare genetic condition will never be easy. Discovering that your child has a health condition that might be life changing or life limiting is likely to be an emotionally challenging experience.
Rareminds Wellbeing Hub has sections on diagnosis, uncertainty, difficult feelings, navigating healthcare and sources of support.
It was an emotional time with lots of suggested conditions that were tested for (which were negative) before finding the right diagnosis. Some doctors acted as if we should be elated at receiving a diagnosis not recognising the enormity and devastation of having your baby diagnosed with lifelong multiple complex health problems. It wasn’t a relief to get a diagnosis, it was devastating
Participant, Rare Experience 2020 Survey
Why are some conditions difficult to diagnose?
Genetic conditions can be difficult to diagnose. There are three main reasons for this:
- It is the ‘rarest of the rare’ – a condition that hasn’t been seen before and therefore there is not a test for it.
- It is an unusual presentation of a known condition – your child’s symptoms might be different to those of other people with the same condition. The condition is therefore not tested for because it doesn’t appear to be that condition.
- Genetic changes are found which are of ‘unknown clinical significance’. This means that changes are found in someone’s DNA or genetic make-up but these might not be the cause of their health concerns. The meaning of the result is unclear.
Trying to get a diagnosis for your child can be a worrying time. There are people in your life, healthcare professionals and organisations that can help you.
Your GP, health visitor or specialist clinician can talk you through the journey to diagnosis. They can provide you with information on the process and information on where to seek support. Your child may be referred to a specialist nurse or genetic counsellor who can work directly with you and your family to offer genetic information and support you to make decisions.
There are also patient groups and support organisations that can provide emotional and practical support for you and your family. On our website you can find an A-Z list of patient support organisations
Coming to terms with a diagnosis of a genetic or rare condition, or with not finding a diagnosis
Wherever you are on your journey to diagnosis, coming to terms with the fact that your child has a health condition can be difficult.
The news that your child has or may have a genetic or rare condition can lead to a wide range of emotions.
Things felt less scary once we got a diagnosis
Workshop participant
An undiagnosed label helps as a starting point – it’s difficult when you don’t know where you fit in to know what’s right for you.
Participant, Rare Experience 2020 Survey
Every person deals with diagnosis, or the news that their child may remain undiagnosed, differently. There is no right or wrong way.
We still don’t have a diagnosis for my child, and it’s unlikely we will get one soon. I’ve learnt to just focus on what my child needs now and enjoying our life together.
Workshop participant
Some people react to the news in a similar way to having a bereavement, others cope by learning all they can about the condition or focusing their attention on their child’s specific needs.
Looking back, I guess I went into a state of grief when we got a diagnosis.
Workshop participant
Sometimes you might want to speak to someone about how you are feeling. You can contact your GP, your local carers centre or support groups for advice on the help and counselling they may be able to offer.
If your child has brothers or sisters, they may feel worried about their sibling. The organisation Sibs provides resources and support for people who grow up with or have grown up with a disabled brother or sister.
The journey of seeking a rare diagnosis and coming to terms with any outcomes can potentially be stressful. We all handle stress differently and you can contact your GP if you feel stressed or anxious – they will help with getting support.
Another potential source of support is Rareminds Wellbeing Hub which has sections on diagnosis, uncertainty, difficult feelings, navigating healthcare and sources of support.
Unique also has a range of practical guides, as well as genetic condition specific guides. Even if they don’t have a relevant guide, you can join them and request further information. You can also join their private Facebook café to interact with families who have had or are having similar experiences.
Take your time
You don’t need to ask every question or learn everything about the condition all at once. Take your time to process information at your own pace and think about your feelings.
Talk
Talk to someone you are close to about the diagnosis and how you are feeling. If you don’t feel that you can speak to someone you know, try an organisation that provides a support helpline.
Find a support group
For some conditions there may be a support group available. Support groups can provide information about a condition. Support groups often have information on their websites and could put you in touch with parents of a child with the same diagnosis.
Our website has information on support groups in our alliance. If you can’t find a relevant organisation then please contact us.
Unique can also connect you with sources of support.
Additionally, there may be local organisations and support services that can help you. You can enter your postcode on the GOV.UK website to find services in your local community.
Online forums
The internet is home to lots of virtual areas for people to meet and talk about their experiences with genetic, rare and undiagnosed conditions.
Be aware that content in online forums and social media may be opinion rather than factual. Ensure you check the quality and suitability of what you read in online forums and on social media.
As a free, informal platform Facebook is home to a number of online support groups. It can be comforting and helpful to talk to someone with, or who has a child with, the same condition – someone who has had similar experiences.
You don’t need to have a Facebook account to search for groups, although if you do find a relevant group you will need to sign up to Facebook to join and talk to people. If there isn’t already a Facebook group for your child’s condition, you can always set one up for the next person who is searching for one. It can be a great way to connect with others directly.
Research
For some people, it can be helpful to find information on and research the condition. Your genetics professional or another specialist may be able to update you on research trials that are already underway or are planned for the future.
There are also several websites with information on research into rare conditions:
Speak to other people
For some people, speaking to individuals living with the same condition or other families who have a child with a similar condition can be reassuring and helpful. Support organisations can help to connect you with other people.
Rareminds Wellbeing Hub has sections on diagnosis, uncertainty, difficult feelings, navigating healthcare and sources of support.
The NHS Mental Health website has lots of guidance and support for your mental health.
Mind’s Information and Support website hub has lots of advice and also shares details of their helplines.
Unique has a range of practical guides, as well as genetic condition specific guides. Even if they don’t have a relevant guide, you can join them and request further information. You can also join their private Facebook café to interact with families who have had or are having similar experiences.
Your healthcare rights
Sometimes people report that they are not happy with the support they have received on their journey to diagnosis. This might be because people don’t feel they have been listened to, or their wishes have been ignored. Sometimes it is because important steps in the process have not been clearly explained or communicated.
In England, the NHS Constitution sets out the rights you have as a patient of NHS services. You have the right to be involved in decisions that affect you and NHS staff should treat you with kindness, dignity and respect. You have the right to complain if things don’t go as you expect.For information on how patients can give feedback or make a complaint about NHS care or treatment, see the NHS website for guidance on how to complain to the NHS. It includes information on the complaints arrangements, and what to expect when making a complaint.
These resources have been developed with funding from our industry partners, Novartis.
We’re also hugely grateful to the Patient and Public Involvement Group, Clinical Advisory Group and Project Steering Group who reviewed and helped to shape these resources.