Osteogenesis imperfecta

About osteogenesis imperfecta (OI)

Osteogenesis imperfecta (OI) is a lifelong genetic condition that affects the bones.

Children and teenagers with OI have bones that break easily and often. This might happen because of a problem with collagen, which is one of the key building blocks of bones.

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 (OI)

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, and this variability includes how often their bones break.

Other signs of OI include:

a blue, grey or purple tint to the sclerae
skin that bruises easily
loose joints also known as joint hypermobility spectrum disorder
hearing problems
brittle or discoloured teeth
bones that don’t grow properly or bend out of shape
a barrel-shaped ribcage
scoliosis
a triangle-shaped face
short stature
a large head
low muscle tone
heart murmurs.

Diagnosis and tests for osteogenesis imperfecta (OI)

Doctors can often diagnose osteogenesis imperfecta (OI) by carefully examining your child, taking a medical history and looking for a family history of fragile bones. They might also order X-rays, bone densitometry tests, blood tests and other tests to look at your child’s bones.

Your doctor will probably 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. If you have genetic testing, it’s also a good idea to have genetic counselling. This can help you learn about the condition and adapt to having a genetic condition yourself or having a genetic condition in your family.

Types of osteogenesis imperfecta (OI)

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 1
Type 1 is the most common form of OI. Children with this type:

have fragile bones
usually have their first fracture during early childhood
have fewer fractures as they get older
have distinctly blue sclerae
might have hearing difficulties when they’re older
often have marked joint hypermobility
sometimes have scoliosis and other spinal problems
might have brittle teeth.

Type 2
Babies with this type:

have extremely fragile bones
might be born with many fractures in both ribs and limb bones
often have continuously beaded ribs with fractures
often have thigh bones with a concertina appearance
have low birth weight, small lungs, severe breathing problems and other physical problems
often die when they’re newborns.

Type 3
Children with this type:

have very fragile bones
might have some fractures before or at birth
continue to fracture easily throughout life
have bones that don’t grow properly or bend out of shape easily
might have short stature
tend to have barrel-shaped chests, scoliosis, breathing problems, brittle teeth, hearing difficulties and other issues.

Type 4
Children with this type:

have sclerae of normal colour
have bones that vary in fragility
might fracture easily during childhood
tend to fracture less as they get older
have bones that might not grow properly
might have short stature
very rarely have barrel-shaped ribcages, breathing problems, brittle teeth, hearing difficulties and other issues.

Type 5
Children with this type:

have fragile bones
have sclerae of normal colour
have deformed elbows with a reduced range of movement
might develop scoliosis
might 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 and teenagers with osteogenesis imperfecta (OI)

There are many treatments, therapies and supports that can help children and teenagers 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.

Fracture treatment
Fractures are a part of life for children and teenagers with OI. Their fractures will need specialised casts, splints or braces.

Medicines
Bisphosphonates are a type of medicine that makes bones thicker and stronger. They’re given to most children with OI. Some children will need this medicine for only a few years, and some will need treatment throughout their lives.

Bisphosphonate medicine is usually given intravenously every 1-2 months in young children or every 3-6 months in older children. Sometimes children with milder forms of 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 muscle strength, which supports the bones and helps children start crawling, walking and so on. Many children and teenagers 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 and teenagers might sometimes use aids like walkers and wheelchairs.

Surgery
Some children and teenagers with OI will have rodding surgery. This is surgery to insert metal rods into bones to support them, prevent progressive bowing and reduce fractures. Sometimes telescoping rods are used, which mean the rods can be made longer as children grow.

Lifestyle support
Like all children, children and teenagers with OI will grow and thrive when they have a healthy lifestyle. This includes a nutritious diet, plenty of appropriate exercise, and good sleep. 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 and teenagers 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, you might be able to get support from the National Disability Insurance Scheme (NDIS). The NDIS can help you get services and support in your community. It might also fund things like physiotherapy, one-off items like wheelchairs, and vehicle and home modifications.

Working with health professionals for children and teenagers with osteogenesis imperfecta (OI)

You and your child will probably work with a large team of health professionals. This team might include audiologists, bone densitometry technicians, clinical geneticists, dentists, endocrinologists, genetic counsellors, occupational therapists, orthopaedic surgeons, paediatricians, physiotherapists and radiographers.

Working in partnership with your child’s professionals is very important. When you combine the deep knowledge you have 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 know your child best. It’s OK to speak up for your child’s needs.

Life with children and teenagers with osteogenesis imperfecta

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 the teachers, carers and other children are aware of the risk of fractures and that the surroundings 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 important to look after yourself physically, mentally and emotionally. If you take care of yourself, you’ll be better able to care for your child.

If you need support, a good place to start is with your doctors and genetic counsellors.

You can also get support from organisations like Osteogenesis Imperfecta Society of Australia, Genetic Alliance Australia and Genetic Support Network of Victoria.

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. You can find support groups through organisations like Osteogenesis Imperfecta Society of Australia.

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.