I am a 30 year old male from Yamuna Nagar, Haryana.
I was diagnosed in 2024 with aHUS (Atypical Hemolytic Uremic Syndrome) when my genetic test report came out.
I had moved to Canada in 2016 and had never had any medical problems. In April 2024, I suddenly had nausea, loss of appetite, would feel sleepy all the time, and weakness such that I was unable to walk for more than 100-200 meters. It had started to affect my job so I went to a walk-in clinic in May 2024, and the doctor there told me it is Acid Reflux. I was prescribed medications for a week and I felt better but the symptoms resumed. A month later, the symptoms had worsened. I went to a walk-in clinic again, this time, the doctor told me my heart might be failing. She advised me to get emergency admission in the hospital for further investigations because my legs and face had swollen by then and I had lost 7-8 kgs of weight. I could not understand what was happening because I was generally fit, I worked out in the gym regularly, my food habits were good, I don’t drink or smoke. That is when I got scared. We couldn’t get the required tests done in Canada because the healthcare system there is quite different from India, and the whole process can be long and exhausting. At that time, I never imagined that I could be dealing with such a serious kidney problem. My wife kept insisting that we should come to India for a proper check-up, but I wasn’t ready to give up on everything. I wasn’t convinced that things could be this serious. But eventually, when things started getting worse, we rushed to India.
At my hometown in Yamuna Nagar, we did a blood test and ultrasound which showed that creatinine was very high and both my kidneys had shrunk in size. We got referred to a nephrologist at a hospital in Delhi. On consulting the nephrologist, he told me my kidneys had failed and that I needed dialysis. That is the first time I knew I had a kidney issue. That same night I got my line inserted and the next day I got the permacath. Within a week I got a arteriovenous (AV) fistula done. I was ready for hemodialysis now and had my first dialysis on July 11th .
The Nephrologist suggested that since I am young, I should consider kidney transplant. A month later, in the complement test my C3 levels were quite low so a genetic test was carried out. The results which came after a month showed a Complement Factor H-Related (CHFR) gene deletion and I found out I had aHUS. I was sent to a genetic counsellor in the hospital. She advised that I can’t get a transplant done because this problem will recur again, which broke my heart. This was in Oct 2024. Around the same time, I was also diagnosed with the G6PD (glucose-6-phosphate dehydrogenase) deficiency. This is a genetic issue but no doctor guided us about it.
My wife and I had lost all hope at this point. I had to continue on dialysis but the problem I faced was that my hometown, which is a tier 3 city did not have many haemodialysis centres and the ones that existed were not very clean or hygienic. So we had to travel to Chandigarh which is 100 kms away. It would take us a whole day for dialysis, and the Hemodiafiltration (HDF) center I chose was at the end of the city so it would take me 2.5 hours to reach and this was three times a week.
Around the same time, my wife and sister-in-law came across Kamal Shah, aHUS patient and co-founder of aHUS India Foundation and spoke to him. My wife has remained in touch with him ever since, and his guidance has been very valuable to us. He educated us a lot and referred us to a very reputed hospital in Chandigarh (Centre of Excellence for rare diseases) where we got more tests and then to one in Delhi to meet a nephrologist with a deep interest in aHUS. He got the genetic test revised because he thought there was another underlying issue. He said that 40% of individuals carrying a known genetic mutation do not develop the disease unless there is an environmental trigger. In my case the trigger could be the Covid vaccine taken in 2021, the dengue infection in 2022 or the G6PD deficiency. Till date, I am not 100% clear what brought on this condition. C5b-9 test was ordered which provided supporting information.
At that time, complement inhibitor was not available in India as a treatment option. I had to continue dialysis. My primary Nephrologist has suggested transplant. My mother may be a potential donor, she will get her genetic testing done next month. My follow up is every 2 months. I am also advised to get heart tests done every 6 months.
Financial Burden and Family Support
I got married to my girlfriend in 2022. In 2023 we had emigrated to Canada, got settled, got a new home and suddenly all this happened. Initially when we came back to India, we thought we would get treated in India and go back to Canada in 6 months, but we had to eventually sell our house to pay for the expenses.
Without family support, it would have been impossible. Living with this condition means undergoing dialysis three times a week and depending on regular transport and household help. I also have to follow a strict diet, and managing all of this on our own would have been difficult in Canada. All our dreams are shattered, and now we have to live in India with my parents.
Financial burden is huge. Complement Inhibitor is now available in India but it is not budget friendly. It seems to me that I am not eligible for the National Policy for Rare Diseases (NPRD). As a result, my only option has been to pay for everything out of pocket. My insurance denied all my claims for tests and treatments because a doctor made a mistake and wrote that I had a prior history of high Blood Pressure. My wife is self-employed, and I have joined the family business, so I continue to work as much as I can to manage the financial burden.
Mental Strength
I have good willpower and have accepted it all. We never saw any mental health counsellor. After meeting Kamal Shah, I was inspired and have more hope. Earlier, I believed that anyone who started dialysis was destined to die soon; I had never thought of dialysis as something that could support a sustainable life.
Information on rare diseases and aHUS
I would like more conversation around rare diseases and kidney disease
- 99% of the population does not know or understand about rare diseases. Even technicians at the dialysis centres do not know what it is when I tell them.
- Socially, only 2 out of 10 people (my family and friends) understand my condition. There is a common misconception that people on dialysis are bedridden or unable to lead active lives
Information should be clearer. Since childhood, we should be taught how to consult a doctor and not just a pharmacist when we have any symptoms. Doctors should also provide more information because diagnosis is tricky for such rare diseases.
I am now part of the aHUS Facebook patient support group. If I need any information, I can ask on the group or reach out to my doctor.
Sometimes it feels like an unfair chapter written without our consent. I never chose this illness, and I never imagined that life could change so suddenly. But this journey has taught me to keep going, one day at a time. I may not have answers to every “why,” but I have learned to focus on what I can do, stay hopeful, and keep moving forward. This is not the life I had planned, but it is a life I am determined to live fully.
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