Today, healthcare professionals, research advocates and many people living with rare conditions are coming together to observe Rare Disease Day. It’s all about raising awareness for rare and genetic diseases, improving access to treatments and learning more about what exactly makes a condition rare.
In the United States, a disease is considered rare if it affects less than 200,000 people at any given time. Rare diseases affect almost 1 in 10 Americans, and many times, they cause common symptoms that can be mistaken for other conditions.1
All across the world, people are raising awareness for rare disease. Here are just a few things you can do to join them.
- Wear your favorite pair of jeans today to help the Global Genes Project promote the Blue Denim Genes Ribbon
- Use the hashtags #CareAboutRare and #WRDD2014 and share them with @GlobalGenes on Twitter and Facebook
- Find an event in your state and participate in local activities
- Print out this flyer, take a photo of yourself with it, and submit it to Handprints Across America
Rare diseases have a personal connection with PatientsLikeMe – our co-founders’ brother, Stephen, was diagnosed with ALS (Lou Gehrig’s Disease) in 1998, and their family’s experiences with the condition led to the beginning of PatientsLikeMe. In 2012, we partnered with the Global Genes Project to create the RARE Open Registry Project to help those diagnosed find others like them in one of the over 400 rare disease communities on the site, and launched the first open registry for people with alkaptonuria (AKU) with the AKU Society in early 2013. We also accelerated our focus on enhancing the idiopathic pulmonary fibrosis (IPF) community through a collaboration with Boehringer Ingelheim. And now, the IPF community on PatientsLikeMe is the largest open registry with close to 1,900 members …and counting.
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.