Why do your bones break so easily?
Recently, there was a movie that featured a character whose bones broke very easily, almost as if they were made of glass. While Hollywood does take some liberty with portraying certain condition when being creative, this isn’t one of them. There is an actual disease that can cause people’s bones to be extremely fragile. What is it? How do you get it? How is it treated? Can you do anything to prevent it?
Osteogenesis imperfecta (OI) means “imperfectly formed bone” and is also known as brittle bone disease. It’s a rare disease that affects the bones causing them to be weak, which means they break easily, often without any traumatic injury. The cause of OI is a genetic defect, which is either inherited or a spontaneous mutation of a particular gene. This gene is supposed to tell your body how much of a specific protein, type I collagen, to make. When it doesn’t do this, your body doesn’t produce enough, or any, of type I collagen. Since type I collagen is a major element in the connective tissue of bones, when there isn’t enough of it in your body, your bones break easily. While they do heal, it occurs at a normal rate. Type I collagen also helps to form ligaments, teeth and sclera (white tissue of your eyeball).
Symptoms depend on the severity of the disease, but can include weak muscles, malformed bones, loose joints, brittle teeth, bowed legs, curved spine, short stature, hearing loss, blue/purple/gray sclera, triangular face and problems breathing. There are eight types, but only four main types. Type I is when the structure of the collagen is normal, but the amount of it is less than normal. This is the most common and mildest form of the OI. With this type, the bones are easily broken, but there aren’t usually deformities. Sometimes, the person’s teeth will be affected causing them to crack or their sclera might be a different color. For types II, III and IV, the collagen doesn’t form properly. Of the three, type II is the most severe and, in some cases, the fetus may suffer broken bones while still in the womb. Due to their fragility, many infants with type II don’t survive. With type III, many infants are born with broken bones and these individuals also typically have deformities, respiratory problems and are shorter than average as adults. Type IV isn’t as bad as type II or III since these individuals don’t have as many or severe deformities or other complications that type III has, but they are also shorter than average.
Unfortunately, there isn’t a cure for osteogenesis imperfecta and due to the amount of symptom variation between individuals, treatment is tailored toward each person according to the disease severity and their age. For most people, non-surgical options are used. This can include medications, such as bisphosphonates, to help slow down bone reabsorption. If the person has broken bone, then immobilizing the area with a cast, splint or brace will be necessary to allow the bone to heal. Once the area has healed, it’s important that the person starts exercising to strengthen the muscles in order to maintain mobility. A physical therapist can teach you certain exercises that not only help with this, but decrease the chances of future breaks. Some good exercises that provide both of these are swimming or walking. Sometimes, surgery is needed if you have repeated breaks of the same bone, the breaks don’t heal properly or you have a deformity, like scoliosis. One surgical option is placing rods in the arms, legs and/or back. They help to reinforce the bones, which helps to prevent them from breaking. Some rods are a set length and must be replaced as a child grows. Others are telescoping and expand as a child grows, but these can cause complications, so your child’s doctor will help guide you in which is best for them. For scoliosis, in particular, the typical treatment is a brace, but for those with OI this isn’t an option because it’ll cause their ribs to become deformed and not improve their scoliosis. So, the best treatment option for scoliosis for those with OI is to have a spinal fusion when the scoliosis is severe. This is where the spinal bones are realigned and fused together.
For parents with children who have osteogenesis imperfecta, it can be an incredibly terrifying experience. There are two key things to remember. The first is that it’s okay to touch or hold your child, just be careful. The second is that no matter how careful you are, your child will break bones, so don’t feel guilty. Some tips for holding/moving your child are to never lift them by holding them under the armpits or lifting their legs by the ankles to change their diapers. Don’t pull on their arms or legs while dressing them. Instead, gently move their limbs. When picking them up, spread your fingers apart and place one hand between their legs and under their bottom and put the other hand behind their shoulders, neck and head. When selecting a car seat, choose one that reclines and will allow you to easily place your child in and take them out. It’s also a good idea to place extra padding beneath them and between them and the harness. Make sure your stroller provides them with adequate padding and has room to accommodate casts. Due to the increased awareness surrounding child abuse, it’s a good idea to have a letter from your child’s doctor explaining what OI is and a copy of their medical records readily available.
Since osteogenesis imperfecta is an inherited disorder, there isn’t a way to prevent it. The best thing to do is practice specific habits that will help to reduce the chances of you breaking something. The most important is exercise, especially those that are weight-bearing, because this helps to strengthen your bones and muscles. It’s also essential that you eat a healthy, balanced diet to get your body the nutrients it needs. One thing to talk to your doctor about is whether or not they recommend increasing the amount of calcium you ingest since it helps to strengthen bones. Avoid things that will decrease your bone density, like smoking, drinking or taking steroids.
Those with osteogenesis imperfecta can lead healthy lives. The key is to take steps to reduce the number of broken bones by doing what you can to prevent them from occurring. If you have any questions or concerns about osteogenesis imperfecta, please speak with your doctor. If you would like more information, please visit the American Academy of Orthopaedic Surgeons’ osteogenesis imperfecta page at https://orthoinfo.aaos.org/en/diseases–conditions/osteogenesis-imperfecta