About raising children with rare diseases
To grow and thrive, children with rare diseases 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, you and your child will probably have some experiences and needs that other families don’t usually have.
For example, if your child is born with or develops symptoms of a rare disease, it’s likely to be very distressing at first.
Also, for many children with rare diseases, 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 for a while.
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 are rare, resources can be harder to find. They can also be expensive.
If you’re dealing with a rare disease 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 can take up a lot of 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.
A rare disease is a condition, syndrome or disorder that affects fewer than 5 in 10 000 people. About two million people in Australia have rare diseases. Some examples of rare diseases are CHARGE syndrome, Angelman syndrome and Kabuki syndrome.
Supporting development in children with rare diseases
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 particular development needs.
There are also some 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 NDIS local area coordinator (LAC).
- Seek practical information about raising children with this condition. You can do this by speaking to other parents who’ve had similar experiences or by joining a rare disease support group. People in these groups can often give you emotional support too.
- Talk with your child about their rare disease 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.
- Promote your child’s mental health and wellbeing by tuning in to their feelings, building positive relationships, and helping them have a healthy lifestyle.
- Help others understand your child’s rare disease. When grown-ups and children understand your child’s 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. Some standard answers can be good too. For example, ‘Eli’s bones break easily, but he can still play chasey. Just touch his wheelchair rather than his body’.
- Be an advocate for your child. Health professionals are experts in your child’s health and medical care. But you’re an expert on your child. No-one knows your child better than you do, 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
Most rare diseases are complex conditions, 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, you’re more likely to get the best outcomes for your child.
If you have a partner, it’s a good idea for both of you to meet with professionals and attend appointments together. This gives you both a chance to share your knowledge about your child and better understand your child’s disease.
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 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
Many children with rare diseases need ongoing therapies, supports and services. These can be expensive.
In some cases, children can get financial support under the National Disability Insurance Scheme (NDIS). The NDIS can help you get services and supports in your community, and might give you funding for things like physiotherapy and other early interventions, one-off items like wheelchairs, and vehicle and home modifications.
You and your family might also be eligible for non NDIS-funded support – for example, a health care card, Carer Payment or a mental health care plan.
Some organisations provide financial support to eligible children with rare diseases – 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 some 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. You can also contact a mental health service.
- Talk with other parents of children with rare diseases. 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
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 Victoria
This organisation provides education, advocacy and support to people with genetic or rare diseases and those who support them in Victoria and nationally.
This global online platform connects rare disease patients, families and patient organisations through online communities and discussion groups.
Rare Disease Day Australia
Rare Disease Day Australia 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.
Syndromes Without a Name (SWAN) Australia
This organisation provides support for families of children with rare genetic conditions.
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.
Supporting rare disease awareness and research
Some families of children with rare diseases choose to support rare disease awareness and research.
If you have the time, energy and interest, here are some ideas:
- Join a support group or get involved with rare disease organisations or events like Rare Disease Day. Raising awareness can help people better understand your child’s disease. It might also help with funding more research and improving access to resources.
- Consider participating in research into your child’s rare disease. For many children with rare diseases, participating in research might be a way to get treatment or build information about their disease for future generations. Ask your child’s professionals or a support group about this option.
You might be able to do some awareness-raising activities together as a family, which can also be a good chance to build strong and positive family relationships.