Last year, our very lively, happy and healthy little boy was diagnosed with Alkaptonuria (AKU) also known as Black Bone Disease.
Alkaptonuria is a genetic disease caused by a build-up of homogentisic acid (HGA) in the body which attacks bones, cartilage and other tissue, turning it black and brittle over time. The build-up of acid accumulates at 2,000 times the normal rate due to the lack of an enzyme called homogentisic dioxygenase (HGD). It is thought to occur in one in 250,000 to one in 500,000 of the population.
The debilitating symptoms of Alkaptonuria present in early adulthood and get progressively worse with time, leading to severe joint pain, osteoarthritis, heart related complications and heart disease. Older patients may need serious operations to replace or fuse their broken joints and over time, the disease leaves patients severely disabled.
So, what has all the above got to do with our happy, healthy, boisterous four-year-old little boy? Children with Alkaptonuria are asymptomatic with the exception of discoloured urine and dark earwax.We realised that something wasn’t quite right when our son was a baby as he kept having pinkish nappies. We visited our GP a number of times and he was tested several times for urinary tract infections but the results always came back negative. We were then referred to a pediatrician and further tests were carried out to check his kidneys and liver function, all of which were fine. Everyone was baffled until we began potty training. One night, his potty was left overnight and the next morning we discovered that his urine had turned black.
So, after some frantic googling, more visits to the paediatrician and more tests, our little boy was diagnosed with Alkaptonuria.
When we were told that he had tested positive, we were absolutely devastated and immediately assumed the worst, as we had seen the pictures on the internet and read about the awful symptoms relating to the disease. It is truly awful to find out that your happy and seemingly healthy child has a rare disease, but, it is even worse to find out that there is no cure.
We were then referred to a metabolic specialist and introduced to the AKU Society and we were delighted to hear that there was a drug being clinically trialled and the early results were very promising. The drug is called nitisinone and is being trialled across Europe and, if it is given at the correct age, it could prevent all of the damage caused by the disease. For patients with Alkaptonuria, this would be life changing.
The Missing Piece to the Puzzle
So, there is a drug being trialled that is showing very promising results and could prevent all of the damage caused by this disease, but when is the right time to start treatment to ensure that invisible damage isn’t already underway?
The AKU Society have launched a campaign on indiegogo to help raise funds to carry out a study that will help determine the correct age to start taking the drug. They hope to bring together patients from across Europe to gather as much data as possible and to do this they need to raise $30,000.
We feel very lucky that our son has been diagnosed at a young age, and to know that he was being given a drug at the right time, that would prevent the onset of such a horrible disease means the world to us.
You can find out more about the study and watch an interview with me on the links below –
March is the Month to Share YOUR Story!
Do you or your child have a rare disease? We want to hear your story. This month we celebrate all patients and their families who speak out on behalf of their condition to raise awareness, connect with others and inspire the community. Make sure to share your story with us by writing to us here.