I just got an email from the institute in Italy where I had sent my blood samples to be tested for the genetic abnormalities that have been implicated in atypical HUS. I was hoping they could advise me about a transplant based on the results. Unfortunately, they were unable to extract the DNA from the samples.
The whole process of actually obtaining the samples in the desired form involved a lot of effort (you can read about that here, here, here, here, here and here). It cost me quite a bomb too. Though the good folks at Italy did not charge me anything for actually doing the tests, the courier cost quite a lot since the samples had to be sent at a temperature between -20 to -80 degrees centigrade.
I am at a loss. They have now asked to send the DNA samples directly. I need to check if there is anyone capable of extracting DNA samples here. Then I will need to figure out how to send the samples and then actually send them. This is so frustrating. I am sure the institute in Italy did their best and I am sure this was unavoidable. But for me, this is really frustrating.
It is not as if I can avoid doing the tests altogether. The results of this test will dictate whether or not I should go in for another transplant and if I should, then what regimen must be followed - whether plasmapheresis must be used or if they would recommend the new drug, eculizumab.
The problem with a rare disease is that not many people have any interest in finding out about it. Even if they find out something, how many people is it going to benefit? If my nephrologist spends time reading up about aHUS, how many people is it going to benefit? All of one. Me. Not worth his time. On the other hand, if he reads up about Diabetic Nephropathy, for instance, he will be benefitting a large number of people.
Where does that leave me? To fend entirely for myself.