Receiving a medical diagnosis for your child…

Realising your child may have a medical condition or health concern or receiving a diagnosis for your child is a very stressful time for parents and families. Parents have told us that this can be an especially confusing and isolating time as they try to understand their child’s condition and understand what happens next.

The information below provides advice, parent tips and resources that may help you during this time.

Preparing for appointments where you might receive a diagnosis for your child…

  • Bring support Take a family member or friend along for emotional support and to help remember what the doctor says. Ask them to take notes for you during the appointment.

  • Prepare questions Prepare a list of questions as it is easy to forget in the appointment. Don’t be afraid to ask the doctor to explain things in simple terms if you don’t understand.

  • Ask for recommended information sources and supports It is natural to want to learn more about your child’s diagnosis but make sure you are using reliable information sources.

  • Make sure you know who can can contact if you have follow up questions or concerns

  • Stay Open-Minded Remember that a diagnosis is just one step in your child’s medical journey. Stay positive, and be open to discussing different treatment options and seeking second opinions if needed.

Advice and tips from parents

  • Use reliable sources of information. See our research tips below!

  • Create a support network. This might be in the form of family, friends or support groups or professionals. There will be times that you want to vent, times you want to share good news and times you just need a break. Raising a child is exhausting. Raising a child with medical or additional needs adds a whole other layer of complexity.

  • Don’t be afraid to ask for help – Whether that is asking to be referred to the hospital Medical Social Worker, Public Health Nurse, your GP, or friends or family – people can’t support if they don’t know you need help!

  • Make time for self-care. This is often really hard to prioritise. However, self-care is very important. It will give you the capacity to continue supporting your child.

Finding information

It is natural to try and find more information about your child’s condition and what to expect. 

The tips below might help you find useful and reliable information.

  • One of the first places you may look is the Internet. While the Internet is a great source of information, there is also a lot of information that is out of date, unreliable or incorrect. Sometimes the information you find on the Internet may not be relevant to your child’s specific needs, even if the information talks about the same condition. Each child and condition is different.

  • Never treat information found on the Internet, in a book, a social media group or anywhere else as medical advice – only a medical professional can give you medical advice after consulting with you and getting details about your child’s condition.

Tips for finding information

  • If possible, ask a member of your healthcare team for a list of reliable and relevant websites or organisations.

  • Check the source of the information – who wrote the health information; is that person qualified to give this information or do they show proper references for information they got elsewhere

  • Always use more than one website to get balanced information and to check information.

  • Be careful not to believe claims or promises of miraculous cures, wonder drugs and other extreme statements, unless there is reliable proof of these claims.

  • Parent groups on social media such as Facebook can be a great source of support and advice based on similar experience. However it is important to remember that every child and how they are affected by a diagnosis is different.

  • Supports and services might be different from other children and families depending on your child’s needs or where you live. Keep this in mind when you hear about supports that other children with similar conditions have received.

Receiving a diagnosis during pregnancy…

You may be looking at this section because your health care team have told you that your baby has a genetic or physical condition or is not developing as expected. It is likely to be a worrying time for you.

This section provides advice to help you prepare for appointments and advice from other parents who have received a diagnosis for their baby during pregnancy.

General advice: Preparing for appointments and receiving a diagnosis

  • Being told that your baby has a particular condition often comes as a shock; and it is not always easy to take in information when you are distressed or anxious. However, it is important that you have all the information you need about what has been diagnosed in your baby. Always ask any health professional you see to explain things to you slowly and carefully and ask for a clear explanation of any complicated medical terms.

  • Bring a support person. Try to make sure your partner, a friend or family member is with you whenever you see a doctor. The person who goes with you can help make sure you go away having asked all the questions you intended.

  • It can be useful to write down a list of questions to ask before any appointment, as it is easy to forget when speaking to your consultant.
  • Many parents and professionals use the Internet as a source of information. There are some excellent websites, but bear in mind that the quality and accuracy of information varies.

  • Take all of the help from your maternity hospital or clinic. Ask all of the questions, even the ones that seem ridiculous. They have specialised midwives and teams who look after people with a pregnancy complication and they’re there to help, listen, and support you.
  • Visit our database for condition specific support organisations.

Advice from an experienced parent

  • As your pregnancy becomes increasingly visible, people will want to talk to you about it. You need to be prepared for how you’ll handle that. Sometimes it’s easier to keep things superficial and not get into the challenges you’re experiencing, but sometimes you might feel like you need to talk about it. You need to be prepared to deal with people’s reactions – often shock or grief.

  • Take all of the help available from your maternity hospital. Ask all of the questions, even the ones that seem ridiculous. They have specialised midwives and teams who look after people with a pregnancy complication and they’re there to help, listen, and support you.

  • It is easier said than done but try not to google too much. There are so many variables that it’s very difficult to get the answers to all of your questions. Write down your questions and ask them at your next appointment – or call the team in your maternity unit. Having said that, it can be helpful to seek out stories of babies and children who have the condition that your baby has been diagnosed with to see what life is like for them – Instagram is a good place to start as you can search the condition by hashtag.

  • It’s okay to grieve the loss of a “normal pregnancy”. It’s okay to feel sad and anxious for you and for what you’re losing during what’s supposed to be such a happy time.

  • Lean into your support network. If you have other children you’re going to need a lot of support and help if your new baby has to be admitted to the NICU or to a children’s hospital after birth.

Receiving a Rare Diagnosis or Undiagnosed…

Receiving a diagnosis of a rare condition for your child can be an uncertain time for parents and caregivers. A diagnosis is often provided by a GP or specialist with very little information available. This is perhaps because they are also hearing the name of this condition for the first time and have little to no information to offer at that time.

Parents have provided us with the advice and tips below to help you and we have a created a list of general support organisations
and information. You can also search our database
to see if we have information on supports related to your child’s diagnosis.

Advice and tips from the team at Rare Ireland

  • See the child in front of you. A child that receives a diagnosis doesn’t change the child. You are doing your best in unchartered territory. Enjoy the love and joy that childhood is about.

  • Build a support network: Differences in your child’s development can bring about confusion and isolation. Find your support network and talk to others going through a similar situation, regardless of a specific diagnosis, there are often many commonalities among the thousands of rare diseases. You will be of great support and comfort to each other.

  • Use support organisations for advice and information: Some of these organisations are listed below and will help you find support and information. Parent led organisations such as Rare Ireland provide excellent support and advice based on their lived experiences.

  • Ask for a report on your child’s diagnosis Upon receiving a diagnosis for example through a genetics department, request a letter/report outlining prognosis and details of the rare disease. This will be extremely useful in accessing entitlements such as Domiciliary Care Allowance, Carers Allowance, Carers Leave from employment etc. It will also be useful to inform what supports are needed through Assessment of Need, reports for suitable educational placement, access to Early Intervention etc

  • Genetics appointments or genetics counselling: Ask lots of questions and be prepared in advance. Don’t be afraid to do your own research and share it with the genetics team, especially if your loved one is the only one in Ireland with that rare condition. Often a referral is made for the parents to be seen by a Genetic Consultant but unfortunately this can involve lengthy waiting times.

  • Wait times: There can be very long wait times for genetics appointments or genetics counselling in Ireland. Ask your consultant or GP about the Cross Border Healthcare Directive or other schemes which allow you to be reimbursed for treatment abroad.

  • Research The resource list below provides information on some of the main Irish and International Rare Disease Networks.

Understanding key terms and roles

The European Union defines a disease or condition as rare if it affects fewer than 1 in 2,000 (1) people within the general population. Currently, there are over 6,000 (2) known rare diseases and new conditions are being described through medical literature on a regular basis.

SWAN stands for ‘syndromes without a name’. It is not a diagnosis, but a term used when a child or young adult is believed to have a genetic condition and testing has failed to identify its genetic cause. Syndromes without a name are also referred to as undiagnosed genetic conditions, unknown genetic conditions or undiagnosed genetic disorders.

Some children affected by a syndrome without a name might be described as having global developmental delay or failure to thrive and others might have learning disabilities and/or physical disabilities. Some children can have complex medical needs and others might have developmental or learning disabilities but no medical needs.

When a baby is born or before they are born, doctors can use genetic screening to look at their genes to find out if there might be any health problems or things that need special attention.

Genetic counselling is a service that provides information and guidance to individuals or families who have or are at risk of having genetic disorders. A genetic counsellor is a healthcare professional who can explain the facts, options, and implications of genetic conditions and tests in a clear and non-directive way. Genetic counselling can help people make informed decisions about their health and well-being

After having explored the possibilities within your child’s region or country and based on your child’s specific situation, your doctor may suggest cooperation with the relevant ERN. The European Reference Networks (ERNs) gather doctors and researchers with expertise in rare and complex diseases. They are “virtual networks” which discuss the diagnosis and the best possible treatment for patients from all over Europe.
Click here for more information.

Cross Border Healthcare Directive
If you are entitled to public health services in Ireland, you may choose to access those services in another member state of the European Union (EU) or European Economic Area (EEA), which also includes Iceland, Liechtenstein and Norway, and be repaid the cost if you meet the requirements. This is provided for by the Cross-Border Healthcare Directive. You will be repaid the cost of the public healthcare treatment in Ireland, or the cost of your treatment abroad, if that is less. It does not include other costs such as travel.

For more information
HSE Cross Border Directive

Useful information
In general, the Cross-Border Healthcare Directive only covers treatments that are available in Ireland while the Treatment Abroad Scheme covers treatments that are not available in Ireland. It is important to make sure you apply under the correct scheme. For information to help you understand the differences between the health schemes follow this link.

Treatment Abroad Scheme
The Treatment abroad scheme (TAS) covers the cost of planned treatment in another country in the European Union (EU), European Economic Area (EEA), United Kingdom or Switzerland. If the patient is under 18 or needs assistance when travelling for medical reasons, we will consider providing travel expenses if we approve their application. The treatment must be within Irish law and either:

  • not available in Ireland, or
  • not available in the time normally necessary to get it in Ireland – taking into account your health and the likely course of your condition or disease

For more information
– HSE Treatment abroad scheme

– Treatment Abroad Scheme (

Useful information
Follow this link to help you understand the difference between the Treatment Abroad Scheme and the Cross Border Healthcare Directive.

Irish Rare Disease Organisations and Information

See below for a number of general Irish based supports and resources that may be of assistance.

Search our database for condition specific organisations we are aware of.

European/International Rare Disease Support Organisations and Networks



Orphanet aims to provide high-quality information on rare diseases. The website allows you search for information on a rare disease and also provides information about expert centres, patient organisations, clinical trials and research projects related to that disease.

Receiving a Life-limiting Diagnosis…

If your child has been diagnosed with a health condition which means their life will be shortened, you will be facing an extremely difficult time trying to cope with your child’s diagnosis and to understand the medical system and options.

The section below provides advice from parents and useful resources and information.

Parents advice

  • 1

    Build a support network: Surround yourself with people who can offer practical and emotional support. Seek out other parents who have been through a similar experience.

  • 2

    Seek counselling: Professional counselling can help you and your child navigate the emotional challenges of a life-limiting diagnosis.

  • 3

    Plan for the your child’s care: Create a plan for your child’s care that takes into account their wishes and your own values.

  • 4

    Celebrate your child’s life: Focus on celebrating your child’s life and making the most of the time you have together.

  • 5

    Make memories: Create special memories with your child such as taking a trip or doing an activity you both enjoy.

  • 6

    Take care of yourself: It is important for parents to look after their own physical and emotional well-being during this difficult time.

Key Terms

There are a wide range of life-limiting and life-threatening conditions affecting children and young people, which can be categorised broadly into four groups.
The UK organisation Together For Short Lives provides information to help you understand the different categories of life-limiting or life-threatening conditions – Categories of Life Limiting Conditions

The Clinical Nurse Coordinator for Children with Life Limiting Conditions facilitates care for children with life-limiting conditions in collaboration with health care professionals within the hospital, in community settings and at home. They link with services in the families area such as Public Health Nurse, GP, Disability Services, Community Palliative Care Teams, voluntary organisations and schools.

Referrals can be submitted by any healthcare professional.

Not every child with a life limiting condition will be linked with a Clinical Nurse Co-Ordinator. Your child may be referred for reasons including:

  • If they have unpredictable or deteriorating health.
  • If there are frequent unplanned hospital admissions.
  • If they need a lot of support around symptoms that are a challenge.

Click here for more information

Children’s Palliative Care

This is an approach to care covering physical, emotional, social and spiritual support. Paediatric palliative care focuses on improving the quality of life for the child or young person and supporting their family members or carers, and includes managing distressing symptoms, providing respite care, and support with death and bereavement.
(NICE guideline NG61)

The palliative care needs of children differ from those of adults. A child may be diagnosed with an incurable illness as a baby, but may live into late adolescence or beyond and may receive palliative care from diagnosis through to end of life.

End of life Support

End of life care includes the care and support given in the final days, weeks and months of life, and the planning and preparation for this.
(NICE guideline NG61)

We have compiled a listing of Irish based support organisations and useful information sources to help you and your family.

You can also search our database for condition specific support organisations.

Support Organisations


Every Life Counts – Online Outreach for parents || 01 879 2382

Every Life Counts is an organisation that supports families whose babies were diagnosed with a life limiting condition before and after birth. They provide a variety of supports, information and resources to families affected by a poor diagnosis in pregnancy.


LauraLynn Ireland || 01 2893151

LauraLynn provides specialist palliative and supportive care services to meet the needs of children (0-18 years old) with life-limiting conditions and their families in Ireland. LauraLynn provides care for the child while also supporting the whole family with targeted supports available to siblings, parents, grandparents and more. Care can be delivered at the hospice building in Dublin or in the family home with the Care in the Community Team providing care and supports in children’s homes across Leinster, Cork, Kerry and Limerick.


Jack and Jill The Childrens Foundation || 045 894 538

Jack and Jill provides in-home nursing care and respite support throughout Ireland for children up to the age of 6 with severe to profound neurodevelopmental delay. This may include children with brain injury, genetic diagnosis, cerebral palsy, and undiagnosed conditions. Another key part of their service is end of life care for all children up to the age of 6, irrespective of diagnosis.

Useful Information

Premature births or NICU care…

This section signposts to useful resources if your baby was born prematurely or needs care in the NICU for other healthcare reasons.

Useful information