Pediatrician Dr. Jörg Semler suffers from osteogenesis imperfecta, the so-called brittle bone disease. At the same time, he is an expert for this disease. In this interview, he talks about how the brittle bone disease is treated at the moment, who parents of affected children can turn to and how he experiences his job as a doctor at the University Hospital in Cologne.
Dr. Semler, during your childhood and adolescence you had thirty bone fractures. How do you get over something like that?
Dr. Semler: During my childhood, I learned to live with setbacks. And I also learned that you have to tackle your disease and being different. That’s difficult at first and you have to build a strong mindset. When I walk through the out-patient departments wearing my gown, all the children are intrigued and say things like: “Look mom, the small doctor over there!” You have to learn to deal with that.
There is no guideline for the treatment of osteogenesis imperfecta. In a paper from the registered association “German Society for Osteogenesis Imperfecta Patients” on the subject, you participated as a scientific advisor. Is it easy for your colleagues to diagnose osteogenesis imperfecta?
Dr. Semler: The problem is that the disease occurs in very different degrees of severity. There are some cases that are clear, for example when the thighs are already significantly bent before or during birth and fractures are already occurring. However, the moderate forms, which often involve child abuse, are harder to diagnose. When children repeatedly come to the emergency room with broken bones, we ask ourselves some questions. In the end, we will examine whether there is a genetic cause, and we will be able to make a diagnosis relatively quickly. The requirement for this is that the colleagues remember to make the genetic test.
What can you do as a parent when your child is suffering from osteogenesis imperfecta?
Dr. Semler: It’s a good measure to contact self-help, and you also need someone who specialized in this disease. You need a competent pediatric orthopedic near you that can perform first aid in the case of a fracture. You definitely cannot expect that all pediatric surgeons are experienced in the treatment of brittle bones. It makes sense that parents contact centers where specialists work.
Are children with brittle bones treated differently from children who don’t suffer from this disease?
Dr. Semler: Yes, they are! The therapy of fractures with a cast is usually perfectly feasible. However, surgery should only be done in specialized centers because particular telescopic nails are used which stay in the bone for many years. Also, the bones are much more fragile, so the deformities should be corrected during surgery.
Would you say that the treatment of patients suffering from osteogenesis imperfecta in Germany is on a high level? Are there countries where children and adults are treated better than here?
Dr. Semler: I would say that we are playing in the highest league. Especially because we achieve an increasingly better connection between drug therapy, surgery and physiotherapy. Today, the interlocking of these three pillars is successful in Germany.
Currently, the disease cannot be cured. Are there any developments in research which give you hope that it can be cured at some point in the future?
Dr. Semler: A cure for a genetic disease is a great hope. But for the last five to ten years, there have been more developments concerning medication. New drugs are being developed that alleviate the symptoms. In the past, it was very difficult to get research companies interested in rare diseases, but a lot has happened since then.
You are doctor and patient at the same time. Would you say that you care for patients differently than your colleagues?
Dr. Semler: I can probably put myself better in some situations that the patients experience but I also know what is possible despite the disease if you make an effort. That’s why I am someone who demands a lot from patients and families. The main symptoms of osteogenesis imperfecta stop after puberty. That means that during childhood and adolescence, you determine the course for the patient’s future life, even if it is a difficult time because most bone fractures occur when the patient is still growing.
Private lecturer Dr. Oliver Semler studied human medicine in Freiburg and Cologne and completed specialist medical training in pediatrics. He is specialized in the research of the brittle bone disease and directs the special ambulance for rare pediatric skeletal diseases and pediatric rheumatology of the Children and Youth Medicine of the University Hospital Cologne.