Cornel is a patient with AKU living in Romania. He recently chose to join our SONIA 2 clinical trial, and is travelling regularly to our study site in Liverpool to take part. We hear his story of diagnosis.
At birth, my parents noticed my nappies were turning black from my urine. I was taken to the doctor, but I was misdiagnosed.
I started to feel the effects of alkaptonuria when I was around 30 years old, with pain in my back and legs. I had good and bad days and tried to ignore the bad days by focusing on work and family.
The major health problems started to appear after the age of 40, with significant pain in my legs, back and knees, which lead to mobility and joint problems. I started to consult many doctors and was misdiagnosed with a rheumatology condition, even though I had major pain in my back and legs.
On 1st September 2012, I met with my consultant, Dr. Laura Damian, and based on in depth investigations, I was diagnosed with alkaptonuria. I was relieved to finally receive a diagnosis, but soon realised the disease had no cure. That is when I began to suffer with depression.
The Internet helped me to learn more about AKU, and patients with the same condition and problems as myself. During this process, I also found The AKU Society, and I read more about their work. That’s when I found out about the clinical trial they were recruiting for called SONIA 2.
SONIA 2 measures the effectiveness of nitisinone in treating the symptoms of AKU. After speaking with my family, I decided to participate in the study. I’m very happy to be taking part in SONIA 2, as I’ve learned so much useful information about my medical condition.
I think the most valuable thing I have learnt is that future generations should not go through the same process as myself. The sooner we diagnose the disease, and treat the patient, the better. I feel fortunate to get the opportunity to take part in SONIA 2 and I want to thank The AKU Society and the entire team, including the Royal Liverpool Hospital. Their work is bringing us one step closer to finding a treatment for this disease.
Being a patient with alkaptonuria in my country is very hard because the disease is not recognised and diagnosis is poor. This is why it is so important for us to raise awareness of this condition and continue clinical research to find a treatment for AKU.