Next week our first ever International Patient Workshop will take place in Liverpool. We have had lots of support for our fundraising campaigns, and that has allowed us to offer travel grants so AKU patients from around the world can attend. This week’s blog introduces two of our international patients from Sweden and Jordan, who share their AKU journey and what the workshop means to them.
Meet Anita from Sweden
I was diagnosed with alkaptonuria in November 2012. I was experiencing increasing back pain and scans showed significant changes in my chest and lower back. I was referred to a doctor in Lund, who took samples to send off.
Two weeks later, my doctor contacted me to tell me that I had alkaptonuria. I was told that it is a rare disease and after reading up about it on the internet, I felt very alone. I had great support from my family, yet it was still difficult to come to terms with the new diagnosis.
It took me about a year to process and as the months went on, I began to understand how my experiences could be linked with AKU.
I had experienced pain when I was about 35, but continued to work as a nurse and thought nothing more of it. I remained active, taking part in regular exercise classes, including spinning and aerobics.
In 2002 the pain intensified and my doctor sent me to have X-rays. The doctors were surprised to see my discs were in such poor condition, particularly as I was so young. I was referred to a physiotherapist and after six months, the pain disappeared in my leg but persisted in my lower back. I was convinced that it was a result of heavy lifting in my job as a nurse.
The increasing pain meant I had to cut down on my activities. I resigned from my job just before I received the diagnosis, as the pain became too much and I was struggling to cope.
After being diagnosed, I did a lot of research and discovered the AKU Society were looking for AKU patients to take part in their SONIA 2 clinical trial. I decided to take part in the trial, where I had the privilege of meeting AKU experts and patients. I am honoured to contribute to AKU research and hope the trial will bring promising results.
I will be attending the International Patient Workshop in Liverpool on 20th April. I look forward to meeting AKU specialists and connecting and sharing experiences with other AKU patients. I hope to make lasting connections that will continue after the workshop. It will be interesting to meet the physiotherapists and dietitian and I am particularly keen to get some specialist dietary advice.
Meet Ameen from Jordan
My story with AKU started at birth when my mother noticed that my urine was a dark colour. My relatives visited many doctors but nobody could figure out or explain what was going on.
In my mid-thirties I started to complain from low back pain and morning stiffness which would go away after 15-20 minutes.
Five years later, the level of pain increased in severity which affected my daily life. I visited many doctors and was recommended to have an MRI scan. The MRI scan showed my spine was reminiscent of a 70 year old. The radiologist searched through the medical journal and after various tests, I was diagnosed with alkaptonuria.
After that I found that many of my relatives have the same disease which they didn’t know about.
As an AKU patient, my energy, skills, and abilities are restricted by this disease which prevents me from achieving my goals and making a better life for myself and my family. In addition, AKU affects my mental health which affects my spirit and social life.
In my country, the Jordanian AKU society was established in 2012 to increase the awareness about this rare genetic disease and provide counselling for AKU patients and their families.
To attend the international patient workshop, it will lift up my spirits and give me the opportunity to meet other patients from different countries and share experiences.
I hope to meet specialist AKU doctors and discuss recommendations and advice. I also hope to find out more about future research. At the same time I hope to organise more workshops in different countries to update the patients on any developments regarding the disease and its treatments.
Thank you for sharing your AKU journeys with us Anita and Ameen. We look forward to meeting you at our workshop next week!
We would also like to thank our wonderful supporters who have helped fundraise for our International Workshop. Your support means that Anita, Ameen and many others can attend the workshop. In next week’s blog, we will be travelling to Canada and Argentina to introduce more international AKU patients!