2 posts tagged “black bone disease”

Living with hope – An interview on AKU with Alycia and Nate

Posted January 27th, 2014 by

We’ve had the pleasure of talking with and featuring many PatientsLikeMe members on the blog over the years, but Nate is the youngest by far. He’s just 5 years old and is living with Alkaptonuria (AKU), a rare metabolic disease, sometimes called Black Bone Disease. Recently, we had the chance to chat with his mom, Alycia, who spoke with us about Nate’s experiences with AKU and her role and philosophy as his caregiver.

To get started, what would you like everyone to know about your son?

My son is an extremely happy and energetic 5 year old. He has recently started school and loves playing sport. His favourite sports are cricket and Australian Rules Football. He has a younger brother who he loves getting into mischief with. He also has a rare Metabolic disease called Alkaptonuria. However, we have chosen not to tell him about his disease at this stage.

Do you remember what the first sign or symptom was? And can you talk a little about the diagnosis process?

The only symptoms he had were black urine and dark ear wax. We never really thought much about his dark urine because we only noticed it when he had accidents during toilet training and as he is our first child we didn’t know any better. When Nate was 3 he was hospitalised with post infectious glomerulonephritis. About 6 months later his kidneys had recovered but his test results were still not normal. With further investigations he was diagnosed with Alkaptonuria. Now the unusual urine stains make sense.

Can you tell us a little about your day-to-day experiences as a caregiver?

Due to the slow progression of Alkaptonuria, caring for Nate on a day to day basis really isn’t much different than for any other mum. The only things I do are to ensure that his ears don’t have any visible ear wax, as we’re very conscious of him being picked on. I also have to take him to a few extra medical appointments as he is under the care of the Metabolic team.

How has connecting to other caregivers, or others living with AKU, on PatientsLikeMe impacted you?

I was devastated when Nate was diagnosed with AKU and even more so when I found out how rare it was. I wanted to gather as much information as possible to help me understand and to help ease the way I felt. It wasn’t until I found the AKU Society in the UK and then PatientsLikeMe that it helped to alleviate some of those feelings. It’s been great to have a group of people who truly understand the disease and who you know will never judge you for any question you ask.

As a carer it’s my job to research as much as I can about AKU so when the time is right to tell Nate I can provide him with this information and he can connect with everyone on PatientsLikeMe himself. PatientsLikeMe has really had a positive impact on my life, at times it’s been comforting to know what potentially could happen to Nate and the quality of life he may have, but the benefits of having access to this site help outweigh some of these feelings.

If there was one thing you could tell everyone who is caring for someone living with AKU, what would that be?

Use all the resources out there like PatientsLikeMe and the AKU Society, which are amazing tools for reaching others who understand AKU better than anyone, fellow patients and carers, to research as much as you can about the disease. I believe that there is a potentially bright future for AKU patients if Nitisinone becomes available.

I also greatly believe if you’re a caregiver to a child with AKU, to let them be a child and let them have the childhood every child deserves and don’t weigh them down with their disease until you absolutely have to. Unfortunately the AKU will always be there.


PatientsLikeMe and AKU Society to Develop World’s First Open Registry for Alkaptonuria Patients

Posted January 9th, 2013 by

Online Patient Network to Connect Patients With Rare Disease,
Create Valuable Data for Research

CAMBRIDGE, Mass. — January 9, 2013 — PatientsLikeMe and the AKU Society are working together to create the first open, global registry for patients with alkaptonuria (AKU), one of the world’s rarest diseases and the first genetic disease discovered. Nicknamed “black bone disease,” AKU leads to a condition that causes the bones and cartilage to become black and brittle. Through PatientsLikeMe.com, patients with AKU can now track their disease progression, connect with others who have the disease, and contribute health data to the registry’s real-time research platform.

AKU Society Chairman Nick Sireau says rare diseases affect millions of people worldwide, but questions about them are so costly for nonprofits to investigate that they remain largely unanswered. “More than 100 years after its discovery, we still don’t know exactly how many people have AKU, or what they are doing and experiencing. We’re excited to partner with PatientsLikeMe to help patients connect with each other and help researchers answer some of the most fundamental questions about rare diseases.”

PatientsLikeMe works with nonprofits to establish open registries for both rare and common diseases. With the AKU Society, the company will regularly gather data about AKU patients’ symptoms and daily lives to establish the most up-to-date source for new medical evidence about the disease.

PatientsLikeMe Co-Founder and Chairman Jamie Heywood says, “This open registry will give anyone—hospitals, pharmacies, providers, nonprofits and patients themselves—a real world view of where and how the disease affects people. This information is vital to deepen our collective understanding of AKU and to drive smarter action, more effective treatments and better patient outcomes.”

AKU has no cure and is estimated to affect one person in every 250,000-500,000. For more information visit http://www.patientslikeme.com/join/aku.

About The AKU Society
The AKU Society was founded in 2003 in Liverpool by AKU sufferer Bob Gregory and his doctor, Dr. Lakshminarayan Ranganath of the Royal Liverpool and Broadgreen University Hospitals. It was the first AKU charity in the world. It is patient-led and includes patients, relatives, medical experts and friends and carers among its supporters. The society aims to locate AKU sufferers to offer them help and support, to raise awareness of AKU and to support research into its treatment. Its vision is to find a cure for AKU within the next decade. The AKU Society has established an influential multidisciplinary network, including representatives from numerous universities and hospitals, pharmaceutical companies and national AKU patient groups in Europe, the Middle East, Asia and North America. The society has also funded two research programs into AKU and the first AKU information center. Visit us at www.akusociety.org or follow us on Twitter or Facebook.

About PatientsLikeMe
PatientsLikeMe is a patient network that helps improve lives and a real-time research platform that advances medicine. Through the network, patients connect with others who have the same disease or condition and track and share their own experiences. In the process, they generate data about the real-world nature of disease that help researchers, pharmaceutical companies, regulators, providers and nonprofits develop more effective products, services and care. PatientsLikeMe has become a trusted source for real-world disease information and a clinically robust resource that has published more than 25 peer-reviewed research studies. Visit us at www.patientslikeme.com or follow us via our blog, Twitter or Facebook.