Here’s a story from one of our AKU patients. It speaks for itself:
‘I was born in Italy, but I’ve lived in France for a long time. My story as an AKU patient is similar to that of many other people who share my condition. I had presented symptoms for years before I was diagnosed. That lag occurred because there is a lack of information about this rare disease.
I was finally diagnosed in 2007 at which time I underwent neuro-surgery to correct an L4L5S1 lumbar stenosis. My back had hurt for a long time, but by then the pain was sudden and violent, and the sciatica in my right leg spread to the left one. Walking became difficult; sitting and lying down were unbearable. No position could relieve the pain, and pain-killers were ineffective. My back and my legs couldn’t support my body.
This was a traumatic and unexpected experience. The neurosurgeon found some dark deposits during surgery which indicated ochronosis. During my convalescence, I consulted a doctor of rheumatology who discovered the reason for this unusual medical situation. I told him about my brother, back in Italy, and his recent diagnosis. My brother had presented clinical signs that were more visible, such as staining of the cartilage of the ears and darkening of the urine.
The rheumatologist knew about AKU. He took into account what other doctors had dismissed as well as my brother’s diagnosis. He concluded that I shared the same condition as my brother. Yet I did not receive any specific information about AKU. For more than ten years, I had tried to figure out what was wrong with my back and my joints while my pains increased and my ankylosis worsened, a deterioration that accelerated in my forties. The doctors I consulted couldn’t find a satisfying answer to my questions. I dare say, some did not persist in seeking answers.
My experience is common, unfortunately, and not only for patients with rare diseases. We should consider the patient-doctor relationship as a starting point to improve patients’ experiences and conditions. By using social networks, I got in touch with the French AKU Society‘s chairman. Since then I have been a member of that society as well as a member of the English AKU Society, which was founded first.
I was touched to find out that the Chairman of the English society has two children with AKU. Both chairmen exude competence and energy and do terrific jobs. Eventually, I connected with other AKU patients. During the 3rd AKU Workshop, held in Italy last year, I met the team of researchers and doctors from Siena / Florence.
The team attended the 4th Aku Conference in Cambridge this year where they presented their findings. Dr Sylvia Sestini also attended this AKU Work Shop as first Chairwoman of the recently founded AKU Society of Italy (AIMAKU), with which I am now also affiliated. Thanks to their work and enthusiasm, in Italy patients and doctors can now be in touch on the social networks. We will certainly contribute to improve the work on AKU conditions through an international movement.’
Nick says: Those are very kind words from her about the French, UK and Italian AKU Societies. Yet her story is harrowing and, sadly, representative of what so many AKU and rare disease patients have to endure: misdiagnosis, incomprehension, years spent with no information. If you have stories about your rare disease patients, do email them over to firstname.lastname@example.org so we can post them and share them.