Hi. My name is Nick Sireau, and I’m the father of two boys with a rare but devastating disease.
Alkaptonuria, or AKU for short, was the first genetic disease to be discovered more than 110 years ago. Despite this, it still has no cure, and the medical world remains largely unaware of its existence and impact on everyday life.
AKU is also known as Black Bone Disease. This is because an acid in the body accumulates at 2,000 times the normal rate, attacking the bones and turning them black and brittle. It causes severely debilitating osteoarthritis, heart disease, and other serious health complications. Patients become increasingly disabled as they get older.
But we believe we have found a cure.
And that’s why I’m reaching out to you today.
Three years ago, I gave up my job in order to devote myself, full time, to ﬁnding a cure for my kids. During that time, I’ve worked with teams in Liverpool, the United States and across Europe to plan a clinical trial.
We have found a very promising treatment: a drug called Nitisinone. If given early enough in life, it’s effectively a cure. The scientists we work with have proven this in their laboratory studies.
The real challenge is proving that this drug works in a clinical trial, in order to license nitisinone for use in AKU.
The cure will then become a reality.
All we need now is the money to bring the patients in.
But we can’t do it without your help.
We’ve raised enough to pay for all the medical tests and some of the patient costs, but we’re still missing $98,000.
The rarity of AKU means patients are scattered around the world, often faced with misdiagnosis, a lack of efficient care and a lack of awareness. This means we need patients from across Europe and beyond to run a good clinical trial. Our target is to recruit 140 patients. This may seem small, but for us it’s a mountain we must climb.
So please donate now.
Your money will help us to:
- Bring patients from across the world to our clinical trial centres. We believe patients shouldn’t have to pay anything towards taking part and getting the help they need.
- Allow patients to bring carers with them. There is currently no funding available for travel or accommodation for carers. As some of the patients are extremely disabled, travelling long distances by themselves can be extremely daunting.
- Help us care for them properly while they are on the trial, because many of them are very disabled and suffering. In some cases, we may need to hire specialist ambulances for those who are too disabled but still want to participate.
- Support the work of AKU Society, the patient group I run for people with Black Bone Disease. It will also help support our smaller sister societies across the world who are caring for our patients, by giving them the money they need to reach out to doctors and patients.
- Allow us to organise events across Europe for patients with Black Bone Disease in order to give patients everywhere access to information about the disease and the trials. For instance, in Slovakia many patients live in isolated rural communities with little access to modern communications, so its one of our only opportunities to inform them properly of the trials.
All we need now is your support.
My vision is for our children never to have to suffer the pain of Black Bone Disease. With your help, we can make this a reality.
You can find out more about the devastating effects of Black Bone Disease by watching our AKU patient stories, updated regularly during the campaign.
Head to our gallery for a more detailed breakdown of how we plan to use the funds.
Other ways you can help:
- Use the Indiegogo share tools on this page to tweet, like, G+, or email our campaign to your friends. That raises our Gogo Factor and could land us a spot on the front page!
- Talk about the Cure Black Bone Disease crowdfunding campaign in your blog or Facebook page.
- Tell all your friends about us!
Spread word of our campaign!
We’re asking you to help spread the word by taking a simple photo, with the words ‘Help Us Cure Black Bone Disease’. Find out more from our blog post here. Some of the first submissions are below!
Donate $33, and you will receive one of these fantastic wristbands and a personal thank you letter from Nick. Your name will also be placed on our website.
Give $66 and we’ll send you your very own AKU Society t-shirt, along with your name on the website, a wristband and a thank you letter.
Donate $111, and we will send you a limited edition AKU Society mug! Grab one while you can, there’s only a few available.
For $222, Nick will create an individual tune just for you. These sold out fast, so we’ve added the chance for 5 more people to nab one. So grab yours now!
Give an amazing $2,222 and in return we will invite you to visit our labs in Liverpool, where Professor Jim Gallagher will show you around and you will be able to see some of the groundbreaking research carried out there. We’ll also throw in a Beatles tour, as Liverpool is their hometown
Also Find This Campaign On:
Team on This Campaign:
Campaign Chief and Dad of two boys with AKU
AKU Society Science Whiz
AKU Society Clinical Trial Maestro
AKU Society Communications Guru
Rare Disease Champion
President AKU Society of North America, AKU patient
Super Grand-dad of two AKU patients
Johanna Nezri den Boer
AKU Patient and Advocate Whiz
AKU Society Advocate and Patient Supporter
Super Mum of two AKU boys
AKU Patient and Campaigner
Mother to an AKU patient
Justin van Kampen
AKU patient and Advocate
AKU Specialist and Lead Clinical Trials Scientist
President of aimAKU
Founding Member of AKU Society Slovakia
Christa van Kan
Director of Clinical Operations at PSR