My name is Anna, I’m from Slovakia and I have alkaptonuria. When I was a baby, my mother noticed my nappies turned very dark. She contacted the doctor to see if there was anything wrong with me, however the doctor insisted I was a healthy baby.
It wasn’t until I was 19 years old, when I was diagnosed with alkaptonuria. Gynecological testing was obligatory for girls my age and the results of my urine analysis revealed excess levels of homogentisic acid. Dr. Sršňová, a well-known Slovakian doctor in the field of genetics, informed me about my AKU. She warned me about the possible future developments of my body. She also sent my blood to Germany to be tested and analysed, but we did not receive any information on treatment.
I started noticing my first symptoms in my 30s, after my two children were born. I got severe pain in my back, hips and joints. My body movements were much slower than others my age and normal daily life required a huge amount of energy.
As I am growing older, the pain and strains on my daily life are growing and I have to plan how to spend my energy very carefully. It is very difficult because nobody understands how I am feeling every day. Most people do not believe me when I talk about future developments to my body, so I prefer not to talk about my feelings with other people and this can feel very lonely.
I am now taking part in the SONIA 2 clinical trial that is looking at the effectiveness of nitisinone in treating AKU. For me, it is very important to participate in such research because I do not want future generations to go through the same thing as me. I feel it is my duty to contribute to this important research. It is also useful to keep updated on the AKU research developments.
I also believe it is really important to find out what age AKU patients should start taking nitisinone through the SOFIA study, as this will prevent the unnecessary damage to children’s bodies. The research being conducted will also bring benefits to AKU patients in Slovakia, as it could result in nitisinone being licensed as a treatment for AKU. AKU is much more common in Slovakia than other areas of the world, so it is even more important to get a treatment.