Exploring AKU Globally: One Woman’s Travels Through Diagnosis and Support

According to the AKU Society, Flavia was only a few weeks old when her parents noticed that her urine had stained her diaper an unnatural brown color. Flavia and her family lived in Brazil, and there were no doctors in the area who could help diagnose what was wrong. So when she was only one month old, her parents took her miles away from her home to Sao Paulo to see a doctor.

Less than 24 hours after arriving in Sao Paulo, the family was returning home with the knowledge that Flavia had alkaptonuria (AKU), a rare and incurable metabolic disease. It is more common in places like Slovakia and the Dominican Republic.
While most children have no symptoms except brown or even black urine, adults starting at age 30 may suffer from the complications of AKU, such as joint pain in the hips, knees, and even spine.

This pain can become very severe, interfering with everyday activities and resulting in hip and knee replacements at an early age. In addition, spinal pain and limited movement can also cause reduced movement of the rib cage, affecting breathing.

Flavia saw another doctor when she was two with hopes of getting more information about a cure or treatment, but to no avail. However, the doctor did encourage Flavia’s parents to put her in a research study. Her parents, nervous to expose their daughter’s condition to students, decided against it. Flavia did not take part in the research study.

Growing up, Flavia’s parents have always kept Flavia aware of her disease, but they also made it clear that there is no cure.

When Flavia went away to college, she began to do more research on her condition. Searching through the internet and exploring different countries’ findings on AKU helped Flavia understand her condition more.

Flavia often became discouraged and depressed any time she read about her condition and saw that there is no known cure. She also realized that many doctors don’t want to do much for people with the disorder since the symptoms do not start until later in life. Perhaps the most discouraging thing about AKU to Flavia is the invisibility of the disease and the lack of doctors’ efforts to prevent the symptoms.

 With AKU you treat the symptoms, not the disease, Flavia explains.

She first noticed the effects of the disease about six years ago when she found dark spots near her ear lobes. They were confirmed by a dermatologist to be excess homogentisic acid. Two years later, Flavia also experienced some lower back pain, and her knees are sore with one slightly swollen.

Flavia found out about the AKU Society in 2008. Through this internet site and society, she discovered new information about her condition that she had not previously known. She utilizes Facebook to speak to other patients around the world about their experience. She no longer feels so alone. Flavia has even found other people living with AKU in Brazil she otherwise may have never found.

Flavia is still open to doing a clinical trial and has volunteered to do several. She recounts how she did not get to participate in one at age two. Flavia believes clinical trials are very important to determine the best treatment for AKU patients because the symptoms need to be treated before it is too late.

Current clinical trials on the use of nitisinone may offer some hope, and Flavia is eagerly awaiting the outcome of these trials. From her journey to diagnosis, to her newfound AKU friends across the globe, to her possibility of participating in a study in the UK, Flavia has seen her share of travel in the face of AKU. She keeps faith that the Brazilian government will approve new treatments for AKU.
Read more about Flavia here and learn more about the AKU Society here.

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