Why is it so hard to cure rare disease? Because it is Rare! 😀 When you know you have rare disease, don’t be shy! I have searched, time and again, till I came across this research group that work on eye genetics problem. And today is it! I am donating my “gene” for research purposes. #RPAwareness
Why is this important?
No sample means no research, means never ever a cure! There are two approaches: one taking tissue sample while the other, taking blood sample, which I did both. If the same sample but uses different approaches, comparison can be made; which is more accurate or which approach is faster, etc.
How does it work?
Am I nervous? Of course I am! Before we started, I am being brief about the procedure and requested for my consent, which I happily gave.
The blood sample is like any normal blood taking procedure. The tissue sample is something I didn’t expect. A small section of your skin is identified, inject anesthetic and a small skin sample is cut. Painful? The anesthetic works, so no worry! 😛 Then they dressed everything up nicely.
Regarding cure, I am an optimistic person but realistic. Even if there is no cure in this lifetime, at least we can try to identify which gene causes the problem. Actually, the purpose of coming forward for this type of research is just that if they did find the defective genes, is about awareness. Is a rare disease, even if we can only help just 1 person, is a good thing.
You have to believe that if you have a rare genetic disorder, you have “special and valuable” genes.
After two weeks this is how it looks like in the featured photo