Today’s blog is written by AKU patient Simon Laxon. In it, he writes about his experience with the disease and how the National Alkaptonuria Centre (NAC) has helped him.
Having a rare genetic disorder can be a pretty daunting thing. It can leave a person prone to feeling frustrated and isolated. I know this from personal experience, after spending over ten years searching for information and other people with Alkaptonuria.
Before the AKU society, I found it hard to get the right diagnosis and treatment for the excruciating pain that I was experiencing at the time. Each of my many symptoms were treated separately and, because of my young age, often mistaken for various other conditions.
I was diagnosed as a baby, but my medical notes were destroyed by a fire at my local hospital. As my condition was so rare no one ever looked into it, I didn’t know what AKU could do to a person who was unfortunate to be born with it. Thanks to the Alkaptonuria Society and the National Alkaptonuria Centre (NAC), the mystery [of AKU] is becoming a thing of the past. More and more of the medical professionals are now aware of this little known about disorder. The AKU Society and NAC have given hope to people who have and are still being diagnosed with AKU.
I am fortunate enough to visit the NAC every year and receive multiple medical investigations. Many of the tests I would not be able to get at my local hospital. I am kept up to date with tests and findings and receive copies of all the reports. These findings are also sent to my medical team back home, which can then treat me accordingly. I can also contact the NAC/AKU Society if any problems arise and this can then be worked out between me, the NAC and my local medical team.
The NAC was set up for the benefit of people with AKU and their families. They have become a sort of extended family to me and others. Without the AKU Society and the NAC, I would still be struggling to get help and treatment and I personally owe them my gratitude.