Once upon a time, in a royal kingdom, far far away lived a young boy named Humpty Dumpty. Humpty was famous in the kingdom for his wild antics and his risk taking behaviours. He would often be found stealing fresh peaches from stalls at the markets or sneaking into the forbidden gardens.
Today was a special day in the kingdom because the king’s daughter was getting married. The whole kingdom gathered to watch the ceremony. Humpty Dumpty was frustrated because he was rather short and couldn’t see the beautiful parade of horses and lavishly dressed royal family members. Nearby, Humpty spotted the wall to the kingdom.
“I will get a perfect view from up here”, Humpty muttered to himself as he swiftly climbed up a grape vine which had ascended the wall. He found a nice comfy spot and watched on as the prince and princess said their vows. Humpty was so taken aback by how beautiful the exchange was that he forgot to hold on to the grape vine. He began to wobble and completely lost his balance. Humpty let out a loud cry as he fell to the solid marble ground beneath him.
Humpty’s horrendous cry attracted the attention of the entire kingdom! He was not in a good state at all. All the king’s horses and all the king’s men quickly came over to assist Humpty but they could not fix him. Humpty was in a lot of pain and he was gently placed into the prince and princess carriage and taken to the kingdom healer.
The healer examined Humpty thoroughly. He took photos of Humpty’s bones with a special x-ray camera. “You have broken a lot of bones Humpty, much more than would be expected from a fall of that height. I am concerned there may be something wrong with your bones. I will need to do another test called a DEXA bone density scan to look at how the cells in your bones are working and a blood test to look at your DNA and genes – this is the code that makes you who you are”.
“While I wait for the results of these tests lets get you fixed up!” The healer wrapped Humpty in bandages and gave him some pain relief medicine.
“Humpty, I am afraid you have a bone disease called Osteogenesis imperfecta or more commonly known as brittle bone disease. Brittle bone disease is a genetic disorder characterised by bones that break easily. This disease is caused by a mutation in your DNA that affect’s your body’s ability to produce collagen, an important building block of bone and some other parts of your body. This means your bones are delicate and can fracture easily – like egg shells!
Because it is in your genes, it is not contagious and it is not your fault this has happened. Well maybe apart from climbing up that wall! Brittle bone disease can be inherited or it can happen when no one else in your family has had it. Fortunately for you, you have a mild form of this disease – type 1, this is also the most common of the four types and the least severe.”
“With type 1 Osteogenesis imperfecta it is common for bones to fracture easily. Many other people with this condition will also be slightly shorter than average and the whites of their eyes can have a blue tinge. It can also lead to dental problems so make sure you visit the town barber regularly to have your teeth checked up on! Hearing loss it also common when you get a little older.”
“There is no known cure for this disease so you will always have brittle bones but there are many treatments available. I will ensure that there are lots of people around the kingdom who will look out for you and help you live the most productive and healthy life. The most important components of your treatment is to manage any fractures you may incur, ensure you have a healthy diet and exercise regularly to develop muscle control and gain strength. We will continue to monitor your bones to check that their density is good. I want you to avoid activities that may put you at risk of breaking any more bones.”
“I would like to see you frequently, Humpty, to make sure you are in the best health possible so you can live a long productive life. Although you may be different from the other kids in the kingdom, you are my perfect imperfecta and I will be here to look after you.”
For more information about osteogenesis imperfecta:
The OI Society of Australia is primarily a support group for persons with Osteogenesis Imperfecta. In addition to being a support group, we are committed to encouraging and supporting research into this rare connective tissue disorder. We also provide education to the wider community and increase awareness of Osteogenesis Imperfecta to both the general public and professionals.
Supports and encourages medical research and disseminates information to patients, their families, and medical professionals.