AKU patient, Flavia tells the story of her journey to diagnosis and her discovery of The AKU Society in 2008.
When I was a baby, my mother realised that my nappy turned brownish and contacted the doctor to find out what was wrong with me. Back then, none of the paediatricians in Brasília knew what was wrong with me, so I was told to go to see a doctor in São Paulo. So my parents left my two older siblings with my grandmother and took me to São Paulo, when I was only 1 month and 17 days old.
We went to see Dr. Fernando Noronha, a metabolic doctor, who took a urine sample from me. The result came back in 8 hours, indicating an excessive amount of homogentisic acid in my urine and I was diagnosed with alkaptonuria. In one day, my parents were given the diagnosis and came back home knowing that this rare inherited metabolic disease had no cure and no treatment.
When I was 2 years old my paediatrician saw a report on a Medicine Periodic, written by a researcher from the University of Goiás, in Goiânia, a city about 250 km from Brasília. She got in touch with the doctor and took me to talk to him. He gave her the same information that the doctor in São Paulo gave her and told her that he wanted me to take part in some research studies. My parents got a little scared to show me off to students and decided not to proceed with the investigation.
They have always talked to me about the disease, that it had no cure, and that I have to increase my Vitamin C intake. When I went to university I decided to study more about the disease, and searched about it on the internet and every time I read about the consequences of it, I got really depressed. I went to see some rheumatologists and orthopedists and most of them had never heard about the disease or had only read about it in the university. None of them were interested in studying my case.
I had more urine tests to confirm the elevated presence of the homogentisic acid in my body and read that I should have a protein free diet for the rest of my life. I tried it for a few days but decided that I could not live like that.
Living with AKU is somewhat sad because the symptoms are not noticed until you are around 30 years old. For that reason, doctors don’t really want to do anything. You just live with the feeling that someday you may get into a wheelchair. No one cares about it, besides you. It is very frustrating because you only start treating the symptoms and not the disease.
I first started noticing the symptoms around 6 years ago, when some dark spots started to show in my ear lobes. So I went to a dermatologist and had a really small piece of my skin taken for biopsy, which concluded that it was the excess homogentisic acid.
About 4 years ago, I also identified some pigmentation in the sclera of my eyes. Other than that, I feel some lower back pain and my knees are sore and the left one a little swollen.
In 2008, I read about The AKU Society on the internet and found out more information about my condition. Nowadays I follow The AKU Society on the internet, Facebook and speak to other patients about their experiences. When I heard that the AKU Society was initiating clinical trials, I sent a lot of emails to them volunteering to join the trials. Unfortunately, I was not able to take part, as they were only able to recruit patients from Europe.
For me, the clinical trials are very important to identify the best treatment for AKU patients and when to start the treatment, as you need to treat the symptoms of AKU before it is too late. Besides that, as I talk to other Brazilian patients, I realise that most of the older patients are a little depressed. The patients experience a lot of pain and the doctors don’t understand the causes and most of the time, don’t believe the patients.
After the clinical trials and its results, I hope that the Brazilian Government will approve the use of nitisinone to treat AKU. Me and some other patients have spoken to some doctors, but they are not willing to take the risk of using nitisinone without a clear and official result of a study. So, these trials will facilitate the access of the drug to AKU patients in my country.
I really hope to be able to contribute in any way to help find a cure for alkaptonuria.