About osteogenesis imperfecta (OI)
Osteogenesis imperfecta (OI) is a genetic disorder that affects the bones.
Children with OI have bones that break easily and often. This usually happens because of a problem with collagen, which is one of the key building blocks of bones. In children with OI, bones either don’t have enough collagen or the collagen isn’t formed properly.
OI is a rare condition. It happens in around 1 in 20 000 people.
OI is sometimes called brittle bone disease.
Signs and symptoms of osteogenesis imperfecta
The main sign of osteogenesis imperfecta (OI) is bones that break easily, often for no obvious reason. But the signs and symptoms of OI vary among children, and this variability includes how often their bones break.
Other signs of OI include:
- bones that don’t grow properly or bend out of shape
- a barrel-shaped ribcage
- a blue, grey or purple tint to the sclera
- brittle or discoloured teeth
- a triangle-shaped face
- short stature
- a large head
- skin that bruises easily
- low muscle tone
- loose joints
- hearing problems
- heart murmurs.
Diagnosis and tests for osteogenesis imperfecta
Doctors can often diagnose osteogenesis imperfecta (OI) by carefully examining your child and taking a medical history. They might also order X-rays, blood tests and other tests to look at your child’s bones.
Sometimes doctors will suggest that you and your child have genetic testing. This can help doctors work out how the change in your child’s genes happened and the chance of other family members having OI.
Types of osteogenesis imperfecta
If your child is diagnosed with osteogenesis imperfecta (OI), doctors will probably tell you that your child has a particular type of OI. Or they might say that your child has mild, moderate or severe OI.
There are 5 main OI types.
Type I is the mildest and most common form of OI. Children with this type:
- have fragile bones
- usually have their first fracture during early childhood and fewer fractures as they get older
- sometimes have scoliosis and other spinal problems
- have blue sclera
- might have hearing difficulties when they’re older.
Type II is the most severe form of OI. Babies with this type:
- have extremely fragile bones
- might be born with many fractures
- have low birth weight, small lungs, severe breathing problems and other physical problems
- often die when they’re newborns.
Children with type III OI:
- have very fragile bones
- might have some fractures before or at birth and continue to fracture easily throughout life
- have bones that don’t grow properly or bend out of shape easily
- tend to have short stature
- might have barrel-shaped ribcages, scoliosis, breathing problems, brittle teeth, hearing difficulties and other issues.
Children with type IV OI:
- have bones that vary in fragility
- might fracture easily during childhood and tend to fracture less as they get older
- have bones that might not grow properly
- might have short stature
- might have barrel-shaped ribcages, breathing problems, brittle teeth, hearing difficulties and other issues.
Children with type V OI:
- have fragile bones
- can develop scoliosis
- can develop very large calluses (bone lumps) where their arms and legs have fractured.
If you’re told that your child has OI, especially a more severe type of OI, you might feel scared or worried about the future. That’s natural. But your child’s abilities and outcomes in life are influenced most by support from you, your family and your child’s team of health professionals.
Treatment, therapies and supports for children with osteogenesis imperfecta
There are many treatments, therapies and supports that can help children with osteogenesis imperfecta (OI) live full and fun lives.
The overall goal of all OI treatment is to reduce the number of fractures, help fractures heal well and help your child grow and thrive. Your child’s OI treatment plan will also combine other elements to meet your child’s specific needs.
Fractures are a part of life for children with OI. Their fractures will need specialised casts, splints or braces.
Bisphosphonates are a type of medication that makes bones thicker and stronger. They’re given to most children with OI. Some children will need this medication for only a few years, and some will need it throughout their lives.
Bisphosphonate medication is usually given intravenously every 3-6 months. Sometimes children with mild OI can take bisphosphonate tablets instead.
Sometimes children might also need pain medicine for their fractures.
Therapies and supports
Physiotherapy is important for building and maintaining children’s muscle strength, which supports their bones and helps them start crawling, walking and so on. Many children with OI also enjoy and get a lot out of hydrotherapy, aqua exercise and swimming throughout childhood and adolescence.
Babies with OI will probably need supports like modified car seats, highchairs and bath seats. Older children might sometimes use aids like walkers and wheelchairs.
Many children with OI will have rodding surgery. This is surgery to insert metal rods into bones to support them and reduce fractures. Sometimes telescoping rods are used, which mean the rods can be made longer as children grow.
Like all children, children with OI will grow and thrive when they have a healthy lifestyle. This includes a nutritious diet, plenty of appropriate exercise, good sleep and so on. They might need special advice on their nutrition to make sure they’re getting enough calcium and other essential vitamins and minerals. They might also need extra checks on their dental health and hearing.
Sometimes children also need support for mental health in childhood and mental health in adolescence. If you notice concerning changes in your child’s behaviour or emotions, and these changes go on for more than a few weeks, it’s important to talk with your GP or your child’s main health professional.
If your child has a confirmed diagnosis of OI, they can probably get support from the National Disability Insurance Scheme (NDIS). The NDIS helps you get services and support in your community. It might also give you funding for things like physiotherapy, one-off items like wheelchairs, and vehicle and home modifications.
Working with health professionals for children with osteogenesis imperfecta
You and your child will probably work with a large team of health professionals. This team might include paediatricians, endocrinologists, orthopaedic surgeons, physiotherapists, occupational therapists, audiologists, genetic counsellors and dentists.
It’s good to see yourself as working in partnership with your child’s professionals. When you combine your deep knowledge of your child with the professionals’ expertise, you’re more likely to help your child grow, thrive and be the best that they can be.
It might also help to remember that the 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.
Life with children with osteogenesis imperfecta (OI)
When you have a child with osteogenesis imperfecta (OI), you need to adjust the way you do everyday things to minimise the risk of fractures.
In the early years, this includes handling, cuddling and playing with your child very gently, and looking at the fracture risks around your home.
As your child gets older, it might involve working with child care, preschool or school staff to ensure that these settings are as safe for your child as possible.
It can also help to be ready with a simple explanation of OI for adults and children. For example, ‘Finn has OI. That means his bones break easily’. Sharing basic tips to help other children safely include your child in play and other activities is a good idea too. For example, ‘Yes, Anna would love to do Let’s Dance with you! Let’s make a space for her walker just here’.
Your child’s professionals can support you as you make these adjustments. For example, physiotherapists can show you the safest ways to handle your baby. Occupational therapists can visit your child’s child care, preschool or school to check and modify the environment. Professionals can also help you put together information that explains your child’s condition and needs.
As your child grows and develops, you’ll become very skilled at figuring out how to do things in ways that work for your child. And as you do this, you’ll have the joy of seeing your child grow and thrive in their own time and way.
Looking after yourself and your family
It’s natural to get caught up in looking after your child with osteogenesis imperfecta (OI), but it’s important to look after your own wellbeing too. If you take care of yourself, you’ll be better able to care for your child.
Talking to other parents can be a great way to get support. You can connect with other parents in similar situations by joining a face-to-face or an online support group.
If you have other children, they might have a range of feelings about having a sibling with disability. They need to feel that they’re just as important to you as your child with disability – that you care about them and what they’re going through. It’s important to talk with your other children, spend time with them, and find the right sibling support for them.
When your child with OI fractures, you might feel responsible, especially at first. But fractures will be a part of your child’s life. Try not blame yourself when your child fractures.