The importance of making the right diagnosis as fast as possible.
With (rare) conditions, time is of the essence. The longer it takes to reach the (right) diagnoses, the longer it takes before someone receives the proper treatment. Here is our plea to recognize the importance of early diagnosis and how Rare Care can help!
Now, it might seem logical that it is important to make the right diagnosis as fast as possible. Still, a lot of people don’t realize that a baby of two months old with a (rare) condition already needs proper treatment and help. If not, the results can be catastrophic. Let us illustrate with an example.
Take Fibrodysplasia Ossificans Progressiva (FOP). FOP is an extremely rare connective tissue disease where the body transforms fibrous tissue (such as muscles and tendons) into bone. The occurrence of fibrous tissue transforming into bone starts with a ‘flare-up’. A flare-up can be caused when soft tissue is damaged (like when someone falls over or knocks into something), but can also occur without a noticeable trigger.
Why then is it so important that early diagnosis is realized with FOP? Because of vaccines! More than 80% of the world’s population is vaccinated and this is a great thing. Quite often, this happens within a couple of months after a child is born. As you might know, the normal way to vaccinate a child is by injecting into the muscle. For a person with FOP, you damage the muscle while injecting into it and thus stimulate a flare-up. The muscle will most probably turn into bone.
But there is more. Because the condition is so rare (1 in 2 million people have FOP) it is often mistaken for cancer. Furthermore, when you remove the abnormally formed bone, the body regrows even more bone in that area. An apt example of why an early, right diagnosis is of vital importance.
One more thing...
There is an important thing to add. In the past, it would take a long time before we could see if a child has FOP. It took a combination of symptoms, such as bones replacing fibrous tissue, abnormal swellings, and deformed big toes before we could come to that conclusion (if we even got there at all). Nowadays, however, a simple DNA test can already show a new-born child has FOP. As the most important first symptom is that children born with FOP have deformed big toes, you can immediately diagnose FOP and take proper measures.
This example illustrates the need for early and correct diagnosis. With a place that offers information about rare conditions, such as Rare Care, we can ensure that this happens (more). Still, the website at this moment only contains a small selection of rare conditions. So, first, we need more people to contribute to Rare Care. We need you! Please help us out to create one place for patients, medical professionals and other concerned parties where you can find everything regarding rare conditions from early diagnosis to social support.