Alkaptonuria Patient
I was born in New York in 1959 and had a healthy active childhood. I moved to Northern Ireland age 12 after my Dad passed away. This was a difficult time as well as a huge culture shock and the cold damp weather didn't agree with me either. I was diagnosed age 32 with severe osteo-arthritis of the lower spine and given pain killers but no attempt was made to identify the cause. In 1995, I was diagnosed with a hyperactive thyroid and my knees starting acting up at this stage with pain and sometimes giving way causing me to collapse for no reason. I moved to England in 2004 age 45 to start a new life and live closer to my daughter. On July 20th 2005 I woke up with swollen knees, intense pain and unable to walk following a night out bowling with friends. This started the journey to find the correct diagnosis for my ailments which also included dark marks on the whites of my eyes and a blue tinge in both ears at this time. I was diagnosed December 22nd 2009 in Bristol Royal Infirmary with Alkaptonuria by which stage both knees and shoulders were very painful as well as my lower spine. I'm an active member of the AKU Society and can not praise them enough for the support and help they've given me over the years. I'm very happy to support them in every way I can in order to help AKU patients and get Nitisinone licensed for all AKU sufferers around the world.