ALCAP (Association pour la Lutte Contre L’Alcaptonurie) is our French sister society. Founded in 2006 by Serge Sireau, it represents over 70 AKU patients in France. Serge is pictured here with his son, AKU Society CEO Nick Sireau, at April’s International Patient Workshop in Liverpool.
ALCAP is now a key member of the DevelopAKUre consortium, which we set up to run international clinical trials into a treatment for AKU. The ALCAP team has helped us to identify patients for the trials. They also support for French patients enrolled in the trial site at Paris’s Hôpital Necker and promote our research in the French-speaking world.
Selena, a French AKU patient, is taking part in the DevelopAKUre trials. In December 2017, she told ALCAP her story:
“I come from Italy. After my baccalauréat (the equivalent of A-levels) and several language courses in London and Paris, I lived for many years in Paris before I decided it was time to change career. I ended up in a beautiful mountain valley in the Alps, known as the Valgaudemar.
A dozen years ago, I was diagnosed with alkaptonuria. This happened rather late in life – I was about fifty. It happened after some surgery on my back, when I had a condition called lumbar spinal stenosis.
The rheumatologist who diagnosed me realised that I had alkaptonuria because of my clinical symptoms. The surgeon who had operated on me had found traces of something black in my spine, and it helped that my brother had already been diagnosed with alkaptonuria in Italy. So, after a long period of uncertainty, they were able to explain my pain and my general joint problems.
Soon after, though, I stopped my job, which was difficult to cope with. I occasionally use a version of pain management called infiltration, which involves getting liquid into my shoulders and knees. I also regularly take medicines for my different conditions (pain, ankle stiffness, fatigue, joint inflammation). I’m taking oral anti-inflammatory drugs and painkillers and applying poultices of green clay to my skin. For massages I use ‘arnica with hargagophytum’ – a homeopathic treatment. Physiotherapy keeps me active. In June, I ‘benefited’ from a full knee replacement in my right knee.
I am involved with the five-year DevelopAKUre clinical trials at Paris’s Hôpital Necker. Despite the problems which we AKU patients face, I have learned over time to accept the limits imposed by the disease. Every day, I look for fulfilling things. Every day, I find them.
What’s more, I’ve learned to organise myself better around my condition. The social links which ALCAP and DevelopAKUre give me make me feel less isolated – being part of this network is very important to me. Plus, it helps keep me grounded. Looking around, I see that other patients are suffering, too!
Unfortunately, no medical staff ever told me about rare disease networks. I found Orphanet (a French website with information about rare diseases) all alone, which led me to ALCAP. Through ALCAP – and through the clinical trial which takes me every year to Hôpital Necker – I’ve had the pleasure of getting to know other patients. Whether or not we are taking part in this clinical trial, we are always able to meet in an environment where our specific wants and needs are respected. This helps us all to lead better lives.”
Selena’s story originally appeared in French on the ALCAP website, under the title ‘Living Differently with Alkaptonuria’. You can read it, and other patient stories, here.