Tuesday, August 31, 2010

Italy institute could not extract DNA from blood samples

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.

7 comments:

IGA Nephropathy said...

sad to hear.

By the way...life post transplant is good...until I got news that BK Virus has appeared....so we will see how it goes.

Shan Chelliah said...

Perhaps it's time for an Italian holiday?

Kamal D Shah said...

Hahaha! Shan, the problem is they said this could happen even if I go there and give the blood sample.

IGA Nephropathy said...

I do not understand that part. A lab like that cannot also extract it? Does it mean that one has to keep trying until the DNA shows up? Is that the way it works ?

IGA Nephropathy said...

Timing of this post and I stumbled upon this post. I do not know if you already saw this already ...

http://renalfellow.blogspot.com/2010/08/get-it-right-first-time.html

Seems there are some docs out there for you ...

Kamal D Shah said...

I did see that post Bhanu. Actually someone else pointed me to that site (not the post). And yes I was also astonished to see that post.

debajyoti said...

Dear Mr Shah
I loved your blog The guy to send the blood to is Dr.Mannuci in Milan I sent it for one of my patients I dont think it is as difficult as you make it out to be
Deb Roy
debajyotiroy@yahoo.com