Those with diseases that arent fatal often spend years going from doctor to doctor getting different tests done to try and figure out whats going on, if there isnt a specialist available. It can be difficult for a doctor to diagnose a disease if they havent seen or heard of it before, which can lead to frustrated or discouraged patients.

Having a rare disease that makes you stand out, whether affecting your physical appearance or how youre able to interact with others, can be depressing. Living in the unknown about what it is that made that person different can add an emotional burden.

This is why in 2008, Rare Disease Day was established by EURODIS and is celebrated the last day of February every year. The goal is to raise awareness of rare diseases, connect those affected across the globe, inspire research and educate decision makers.

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Discovering disease mechanisms can lead to breakthroughs and novel treatment pathways, Oral says. Only 450 of 7,000 rare diseases have specific or certified therapies. We must recognize the importance of finding these treatments. She adds that understanding the mechanism for the disease may provide information that has implications for common chronic diseases as well, like diabetes.

Deep gene sequencing may also lead a researcher to making a discovery that opens an opportunity for drug repositioning or applying an available drug for treating a condition different from the original treatment purposes. And because most rare diseases are genetic, according to Oral, genetic testing is important for a family that may want to be aware of carrier status for current family members, as it may influence further family planning decisions.

For all of these reasons, Oral, together with the University of Michigan student-run organization Care About Rare and Najoua Elbourkadi, Ph.D., from Fast Forward Medical Innovation, organized a symposium dedicated to recognize rare diseases which took place February 21.

This is a hopeful time in the study of rare diseases. We have technology that can look at the differences in our genome very deeply, and also at tissues for the expression of those genes. Its quicker and at a much lower cost than before, Oral says. Were on the brink of a revolution.

Read the original here:
The Reality of Being Rare - Michigan Medicine

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