So, I have this rare disease called Atypical Hemolytic Uremic Syndrome (aHUS). There are probably a handful of adults in the world that have it. In this disease there is uncontrolled activation of the alternate complement pathway (alternate mechanism of protecting the body against foreign invasions, so to speak).
It has been proved that I have a genetic defect in me where two exons of the CFH gene are replaced by two exons from another gene called the CFHR1. This is called the CFH/CFHR1 hybrid gene. This genetic defect makes me vulnerable to Hemolytic Uremic Syndrome (HUS). The vaccinations that I took in July 1997 triggered this disease.
Until recently, Plasmapheresis was the first line of therapy for HUS. What Plasmapheresis basically does in HUS is it removes the 'bad' Factor H and replaces it with 'good' Factor H. This may not be effective always. This was done when I presented initially with this disease. However, more of Plasma Infusion was performed and little Plasmapheresis was done.
When I got a transplant in November 1998 and HUS recurred, Plasmapheresis was NOT done. This, I feel, in hindsight, was a grave mistake. Not that I blame anyone for this but this would have given us a shot at saving the transplant. I had no clue at that time about these things.
Now, after 14 years with this disease, the co-morbidities of long term kidney disease are catching up with me. My gut feeling is I will need a transplant sooner rather than later. I have a few options at this stage:
- Transplant with Eculizumab
- Transplant with Plasmapheresis
- Status Quo
A transplant with Eculizumab has the best likelihood of success. Most people who have taken Eculizumab (about a dozen have probably had transplants around the world with Eculizumab) have not had any recurrence of aHUS. The problem? Not yet available in India. Costs prohibitively high to even consider importing. (Just to give you an idea, it would cost about $300,000) Realistically speaking, it might take upwards of 4-5 years for the drug to become available in India and reasonably enough proceed for me to be able to use it. Some people talk about clinical trials. Clinical trials for transplants? Hmmmm...
The third option is a status quo. Continue like I am doing now. On dialysis. Quality of life is not bad at all. However, things are happening. For sure. My skin looks alarmingly bad. My nephrologist has warned that my quality of life might be affected. He feels I should get a transplant as soon as possible. He in fact, wants me to meet the Transplant Surgeon and begin the process right away.
Which brings me to option #2. Transplant with Plasmapheresis. Plasmapheresis is not a sure shot solution for recurrence. It may work. It may not work. No one can say for sure. It will be expensive though it can be done in Hyderabad itself. Donor will need to be figured out. But this is within reach. Yes, it will dry up a lot of my family's and my financial resources. But certainly within our reach. Unlike eculizumab.
So that is what I am thinking hard about these days.