About raising children with rare diseases and conditions
To grow and thrive, children with rare diseases and conditions need the same things as all children – warm and loving relationships, a sense of safety and security, a healthy environment, and opportunities to play and explore in their own ways.
But if you’re raising a child with a rare disease or condition, you and your child will have some experiences and needs that other families don’t have.
For example, if your child is born with or develops symptoms of a rare disease or condition, it’s likely to be very distressing at first.
Also, for many children with rare diseases and conditions, diagnosis can take a while. You might spend a long time not knowing the cause of your child’s symptoms. Or your child might be misdiagnosed at first.
Whether you get an early or later diagnosis, diagnosis is a positive thing. It means your child can start getting the specialised medical care, therapies, supports and information they need. But when diseases and conditions are rare, resources can be harder to find. They can also be expensive.
If you’re dealing with a rare disease or condition, or rare symptoms, you might worry about what life will be like for your child. Or you might have to adjust some of your hopes and dreams for your child.
And from day to day, caring for a child with a rare disease or condition can take time and energy. This might mean that you sometimes worry about your relationships with the other important people in your life – your partner, other children, extended family and friends.
Each stage of your child’s life will bring challenges for you to navigate. But with support, you’ll figure out how to do things in ways that work for your child and family.
Rare diseases and conditions affect fewer than 5 in 10 000 people. About 2 million people in Australia have rare diseases and conditions. Some examples of rare diseases and conditions are Angelman syndrome, CHARGE syndrome, Cornelia de Lange Syndrome, Cri Du Chat syndrome, Kabuki syndrome, osteogenesis imperfecta, Prader-Willi syndrome, Smith-Magenis syndrome and Williams syndrome.
Supporting development in children with rare diseases and conditions
A warm and loving relationship with you is the most important influence on your child’s development. Children learn the most from the people who care for them and with whom they spend most of their time, so everyday play and communication can help your child a lot.
Your child will probably also have a package or plan of therapies, supports and services that are customised to their development needs.
There are also everyday things you can do to support your child’s development.
Seek early intervention
Early intervention can make a big difference to your child’s life now and in the future. Your child’s medical team will help you work out what’s likely to help your child most. And if your child is an NDIS participant, you can also talk about early intervention with your NDIA planner, NDIS early childhood partner or local area coordinator.
Seek practical information
You can get information about raising children with this disease or condition by speaking to other parents who’ve had similar experiences or by joining a rare disease or condition support group. People in these groups can often give you emotional support too.
Talk with your child
Talk with your child about their rare disease or condition at a level they can understand. You might need to explain to your child that they need to do things differently from other children. Or that they’ll have a lot of medical appointments and hospital visits.
Support your child’s mental health and wellbeing
Good mental health and wellbeing will help your child develop socially, emotionally, mentally and physically. You can support your child by tuning in to their feelings, building positive relationships, and helping them have a healthy lifestyle.
Help people understand your child’s rare disease or condition
When grown-ups and children understand your child’s disease or condition, they can interact and play more meaningfully with your child. You can ask your child’s professionals or a support group for fact sheets or make your own to give to teachers, GPs, other parents and so on. For example, ‘Eli’s bones break easily, but he can still play chasey. Just touch his wheelchair rather than his body’.
Be an advocate
Health professionals are experts in your child’s health and medical care. But you know your child best, and it’s OK to speak up for your child’s needs, especially if you have concerns about any area of your child’s health, development or wellbeing.
Working with professionals caring for children with rare diseases and conditions
Most rare diseases and conditions are complex, so you and your child will probably work with a large team of medical specialists and health professionals.
At first this might feel daunting. But it’s best to see yourself as working in partnership with these professionals. When you combine your deep knowledge of your child with the professionals’ expertise in rare diseases and conditions, you’re more likely to get the best outcomes for your child.
If you have a partner, it’s a good idea for you both to meet with professionals and attend appointments together. This gives you both a chance to share your knowledge of your child and better understand your child’s disease or condition.
You can find out more about the health and allied health professionals who might work with your child by searching our A-Z health reference.
It helps to get organised. Keep records and bring them with you to appointments. Organise forms, reports and documents in an electronic or paper folder, and have a notebook or device for listing questions you would like to ask and taking detailed notes. You’ll often need to repeat the same information to different professionals, so it’s good to have all this information on hand.
Financial support for families of children with rare diseases and conditions
Many children with rare diseases and conditions need ongoing therapies, supports and services. These can be expensive.
In some cases, children can get financial support from the National Disability Insurance Scheme (NDIS). The NDIS can help you get services and supports in your community, and it might give you funding for things like physiotherapy and other early interventions, one-off items like wheelchairs, and vehicle and home modifications.
In the early years, your child doesn’t need to have a diagnosis to get NDIS support. Your child’s eligibility can be assessed in relation to a developmental delay or physical disability.
You and your family might also be eligible for non NDIS-funded support – for example, a health care card, the Carer Payment or a mental health treatment plan.
Some organisations provide financial support to eligible children with rare diseases and conditions – for example, the Steve Waugh Foundation.
You can also talk to your child’s support worker at your hospital for help with out-of-pocket costs, like hospital parking.
Looking after yourself and your family
Looking after yourself physically, mentally and emotionally helps you give your child what they need to grow and thrive.
Here are ways that you can look after yourself:
- Stay active, eat healthy food, and get plenty of rest.
- Consider organising respite care. Taking a break from caring for your child is good for you, your family and your child.
- Talk with your GP if you’re having trouble coping or you feel you need support.
- Talk with other parents of children with rare diseases and conditions. You can connect by joining a face-to-face or online support group.
- Support your other children by talking with them, spending time together and getting them extra support when they need it. Some organisations can help with sibling support – for example, Siblings Australia.
- Look after your relationships with others, like with family and friends. Focus more on your relationships with supportive people so that you can get the emotional support you need.
Resources for families with rare diseases and conditions
Genetic Alliance Australia
Genetic Alliance Australia helps families affected by the same or similar rare genetic diseases to connect with each other. They also provide information about rare genetic diseases and Australian and international support groups and services.
Genetic Support Network of Victoria
This organisation provides education, advocacy and support to people with genetic or rare conditions and those who support them in Victoria and nationally.
Rare Awareness Rare Education (RARE) Portal
This website has current and reliable information, resources and support for families in Australia living with rare diseases. It also includes information for professionals and researchers.
Rare Disease Day
Rare Disease Day raises awareness about rare diseases and how they affect individual and family lives.
Rare Voices Australia
Rare Voices Australia (RVA) is the peak body for people in Australia living with rare diseases. RVA provides a strong, unified voice to advocate for the best outcomes for people in Australia living with rare diseases. This includes advocating for policy, health, disability and other systems.
Rare Voices Australia – A-Z Support Directory
This webpage has a list of rare diseases and their Australian and international support groups.
Steve Waugh Foundation
Steve Waugh Foundation helps to improve the quality of life of children and young people living with rare diseases. They provide grants for eligible families, raise awareness, host respite and support camps, and connect families with peer support.
Syndromes Without A Name (SWAN) Australia
Syndromes Without A Name (SWAN) Australia provides information and support for families caring for a child with an undiagnosed or rare genetic condition.
Supporting awareness and research into rare diseases and conditions
Some families of children with rare diseases and conditions choose to support awareness and research.
If you have the time, energy and interest, here are ideas:
- Join a support group or get involved with rare disease and condition organisations or events like Rare Disease Day. Raising awareness can help people better understand your child’s disease or condition. It might also help with funding more research and improving access to resources.
- Consider participating in research into your child’s rare disease or condition. For many children with rare diseases and conditions, participating in research might be a way to get treatment or build information about their disease or condition for future generations. Ask your child’s professionals or a support group about this option.
You might be able to do awareness-raising activities together as a family. This can also be a good chance to build strong and positive family relationships.