Today’s blog is written by one of our hardworking volunteers for our exciting upcoming crowdfunding campaign to raise money for the first Global Black Bone Disease registry
My name is Denise Higgins and I am an AKU patient and president of The AKU Society of North America (AKU-NA). This crowdfunding effort is vital to further the knowledge, treatment and cure for Alkaptonuria (AKU). Identification of AKU patients is one of the most difficult challenges.
Here is a brief synopsis of my journey so far with AKU. I was diagnosed as a baby when my diapers turned dark after exposure to air. The doctors did not have a lot of information about AKU in 1954 and told my parents I might have a tummy ache now and again, but there was nothing to be concerned about. I led a normal life with exercise and a standard diet. When I was in my mid to late 30s, I started noticing a roughness on the inside of my forefingers and some blue tint in the cartilage in my ears. At that time, I was working as a Project Manager in a scientific laboratory where an ophthalmologist accurately diagnosed these issues as symptoms of AKU. Here’s a link to a YouTube video I recorded several years ago.
Now, at 67 years old, I have lost a couple of inches in height due to a compressed spine and have some joint discomfort, but I still lead a pretty normal life. I drive, walk, play golf, travel, and work a full-time job. I have three children and four grandchildren (none of them has AKU). I have had my right hip and both knees replaced. Nitisinone helps to manage symptoms and is very helpful for lowering HGA levels into a normal range. HGA (homogentisic acid) is what causes the deterioration of cartilage. Although it seems nothing can reverse the damage done, nitisinone prevents further damage from occurring.
When I began my college studies, I majored in theatre; I was especially passionate about musical theatre. I took dance lessons, voice lessons and completed all the technical aspects of learning the art of theatre. After my three children were born, I managed to keep my hand in, choreographing, directing and writing children’s plays for schools my children attended. I completed my degree through online classes and received a bachelor’s degree in Business Administration.
In 1994, I founded a biotechnology company with a scientist partner. Advanced Targeting Systems is an ongoing business that provides research tools to researchers around the world. This allows me to travel around the world for trade shows and meetings.
Nick Sireau and the founding of The AKU Society of North America
Late in 2010, Nick Sireau contacted me to see if I was interested in serving on the board of an AKU Society in North America. On 30th March 2011, the AKU Society of North America was founded. For over ten years now, we’ve been interacting with patients and physicians and helping them get the information they need. Nick is CEO and Chairman of the trustees for the AKU Society in the UK. This organization has nurtured and continues to support all the AKU Societies around the world with important research, patient meetings, and resources. The effort to set up a Worldwide AKU Patient Registry will be expertly managed in the UK and accessible to all the AKU societies worldwide.