You may be fearful or weary to continue on the road to diagnosis. When your health has become a question mark, it's natural to worry about what you might find out or to be anxious about tests and treatment. But as with any disease, when a rare disease remains undiagnosed or is misdiagnosed, quality of life can worsen due to lack of treatment or the wrong approach to treatment.
It is important to remain proactive, aware, and involved in your (or your child's) health and care. Acknowledge changes and track symptoms. You may notice patterns that lead to new questions or routes of inquiry for your doctors. Also pay attention to your instincts – sometimes you can just "feel it in your gut" that something is wrong.
The good news is that, when properly diagnosed, some rare diseases can be managed through medication or treatment. In the case of some types of Gaucher disease, for instance, treatment with enzyme replacement therapy can help to manage certain symptoms. Additionally, when doctors know what they are looking for, sometimes all it takes is a simple blood test to pin down a clear diagnosis – which is true of Gaucher disease.
Once you receive the accurate diagnosis, you can also reach out to others who have the same rare disease. Connecting to others can help to create a family for those with an "orphan" condition, supporting one another through a shared experience and developing expertise through collective knowledge.
You can even help to advance scientific and clinical understanding of your rare disease. Each new case of a rare disease provides further information and evidence useful to research and development of medications and treatments.
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