Osteogenesis Imperfecta means “Imperfect Bone Formation”. It is a condition in which bones break easily due to some mild trauma and at times even without any apparent cause. In some severe cases, the baby may suffer fractures while he is in his mother’s womb whereas in milder forms the patient may experience multiple fractures over his entire lifetime. A person suffers from it when collagen (a protein in our body which makes our bones strong) production is less. It occurs due to defective genes passed on from the parent.
Brittle Bone Disease also known as Osteogenesis Imperfecta is a condition in which the bones are weak as a result of which the bones become brittle and are prone to breaking easily. Along with bones, the disease weakens the muscles, makes the teeth brittle and may also cause loss of hearing in people.
This disorder is characterised by a fragile skeleton. There are four types of genes responsible for collagen production. A combination of any of these genes or combination of all four together can be affected.
This is the mildest and the most common form of the disease that a baby can have. In this type, the body produces normal quality collagen, but it is not sufficient enough for the body’s needs. It can cause bone fractures due to mild trauma and may also affect teeth causing dental cracks and cavities.
This is the most severe form of OI and is fatal. The Collagen production in this type of the disease is either insufficient or of poor quality. People suffering from this type of the disease have bone deformities like narrow chest, broken or malformed ribs and underdeveloped lungs. The pregnant woman can bear a miscarriage, or the baby can be stillborn
This is another severe form of the disease. In this, the body produces enough collagen, but it is not of the desired quality. As a result, the affected baby’s bones start breaking in their mother’s womb itself. Bone deformities can be seen too, and they get worse as the child grows older.
The symptoms of this type may range from mild to severe. Like Type 3 OI, the collagen production is enough but of is of poor quality. As a result, children born with this type have bowed legs. The good news is that the bowing tends to lessen with age.
When a parent who suffers from OI passes on the faulty gene to the child, he is also born with the same OI as the parent.
About one – fourth cases of OI are born into a family that has no history of the disease and are not a result of inheritance from the parents. Rather it occurs due to a new or spontaneous genetic mutation.
The symptoms of Osteogenesis Imperfecta or Brittle Bone Disease vary from type to type in their degree of Bone fragility and fractures and in some cases bone deformity.
The first step towards diagnosing OI is going through family history. Once that is done, the doctor will examine the medical history of the person. The doctor will then ask for –
There is no treatment for completely eliminating OI. However, treatments can be given to prevent or control symptoms, and it can vary from one individual to another.
Care should be taken to heal the fractures and to minimise them by being careful not to cause even the slightest of trauma.
It is usually a combination of muscle strengthening and aerobics. Children would be given exercises by physiotherapists to strengthen muscles and aid in improving motor skills which are usually delayed due to OI.
Medicines can be prescribed to ease the pain. Vitamin D and Calcium should be taken to improve bone health.
In some cases, surgeries can be carried out to amend deformities.
People affected by OI can wear support braces in the legs to provide support for weak muscles, decrease pain and keep the joints properly aligned.
People suffering from OI may suffer from low self-esteem or personality disorders. Therefore Psychiatric counselling is an essential part of the rehabilitation program.
Related problems due to OI like loss of hearing may require these patients to wear hearing aids and crown/braces in case of dental deformities. Some people with underdeveloped lungs could also require oxygen administered from external sources.
Infants are fragile and vulnerable. And infants with OI are even more so. Therefore infants with OI should be carefully handled since they are more prone to fractures and may have several bone deformities. Here is a list of things parents should do while handling OI infants.
Sudden crying could be a sign of pain caused by a fracture in an OI affected baby. Firstly try and calm him down and once he calms down a bit, try and touch his body parts gently. If he starts crying on touching a certain part of his body, it may be fractured. Pick him up gently and place him in the car seat carefully with adequate padding. Be sure to drive slowly so that there is no jerking. At the hospital do not allow anyone other else than the doctor or the nurse to handle the child.
The Long Time Outlook differs from type to type.
People affected by this type can lead normal lives in comparison to some of the severe types.
It is a severe form of the disease and usually fatal. The baby may be stillborn or may die in few months. While some suffering children from this type of OI may live to adulthood, they may suffer several bone deformities.
Children with this type may suffer severe Bone deformities and may have to take the help of wheelchairs to move around. Their lifespan is also shorter than the milder types of Type 1 or Type 4.
People with this form of the disease may have to take the help of crutches or wheelchairs to walk around, but their lifespan is normal.
The Brittle Bone Disease in babies can cause a lot of worries for the parents. A lot of care and precaution should be taken while handling such infants. Here is a list of things to be kept in mind –
The thought of bringing up a child having a disability due to Osteogenesis Imperfecta may seem like a Herculean task, but with time you will come to terms with it. Along with patience and lots of care, parents of children affected by the disease should not shy away from filling their lives with love and affection.