Rare Disease Day

Member Kimberly opens up about living with a rare disease

Today is Rare Disease Day 2017, and to raise awareness Kimberly (firefly84), a member of the 2016-2017 Team of Advisors, recently shared some of her experiences living with autonomic neuropathy, a rare disease: “Perhaps you’ve heard the saying ‘when you hear hoof beats, think of horses not zebras,’ but I am the zebra in that herd of horses.” Kimberly touches on the impact of living with a rare disease, and also what she had to go through to get a diagnosis for her condition. Watch her video to hear what she has to say… Share this post on Twitter and help spread the word.

“We are the ones that know what is required to give us the care we deserve” — Member Ann shares her story for Rare Disease Day

 February 29 only comes around every four years – and this year, it’s extra special: Today marks the 9th annual Rare Disease Day. In the United States, a disease is considered rare if it affects less than 200,000 people at any given time.1  This year’s theme is all about elevating the patient voice, so we caught up with member Ann (annpkerrigan) to learn more about what it’s like to live with alkaptonuria (AKU), a rare disease that affects 159 PatientsLikeMe members. Here’s what she had to say… How would you describe AKU to someone who has never heard of it? I suffer from AKU, which is a rare genetic disease with no cure or treatment but not fatal. This is what I was told six years ago when diagnosed after many years attempting to identify my condition. AKU is a metabolic disease, which causes severe early-onset osteoarthritis. It can be a painful and degenerative disease. Over the years, I’ve learned to adapt and make changes to my home. I live alone and it’s crucial I can manage everything. Prior to diagnosis my knees were very painful so I moved to a ground floor apartment in Bristol to be closer to work and because using stairs became impossible. My GP referred an …

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Day-by-day, hand-in-hand

All around the world, everyone impacted by a rare disease is taking everything day-by-day. But they can take each day hand-in-hand with the help and support of others. Today, on Rare Disease Day (RDD), EURORDIS (Rare Diseases Europe) and its global partners are calling on everyone to lend a hand to anyone affected by a rare disease. RDD’s international theme is “Living with a rare disease” because every patient’s story and needs are different, and only by sharing our experiences and raising awareness can we all hope to improve the lives of those living with a rare disease. It’s also about the million of parents, siblings, grandparents, aunts, uncles, cousins and friends that are impacted and who are living day-by-day, hand-in-hand with rare disease patients.1 Check out the official video below: According to the Global Genes Project, there are 350 million people living with a rare disease around the globe. Just how many is that? If you gathered those people into one country, it would be the third most-populous country in the world. There are more than 7,000 identified rare diseases, from skin conditions to progressive neurological disorders, and more are being discovered every day.2 Here’s how you can get …

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Uniting for hope on Rare Disease Day 2014

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 …

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Raise Your Hands for Rare Disease Day

Today, February 28th, is Rare Disease Day, a worldwide event showing solidarity with rare disease patients and their families around the globe.  The theme for this year is “Raise and Join Your Hands,” and everyone is being asked to participate, whether you’re an individual, an office with 10 people or a public gathering with 1,000 people. Here at PatientsLikeMe, we are taking part by raising our hands and sharing our group photo in solidarity with the campaign as well as all of our members living with rare diseases, which affect 1 in 10 people worldwide.  You are encouraged to submit your own photo here. Rare diseases are a special passion for PatientsLikeMe, as our company was started due to our founders’ experience with a rare disease called ALS (Lou Gehrig’s disease).  Since then, we’ve partnered with the Global Genes Project to form the RARE Open Registry Project to connect patients fighting rare diseases and help them share and learn. “It’s terrifying to think you’re alone and manage your rare illness with a doctor who might not have ever seen another patient like you,” says PatientsLikeMe Co-Founder Jamie Heywood. “We will change that.”  Most recently, we launched the world’s first open registry …

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Rare Disease Day: Together, We Can Do More

Today is the fifth annual observation of Rare Disease Day, an international event recognized in more than 50 countries.  (Learn about US activities here, including a day of lobbying on Capitol Hill for the ULTRA Act, which aims to stimulate the development of treatments for rare diseases.) What’s a rare disease, you ask?  It’s a condition that affects less than 200,000 people in the US – or less than 1 in 2,000 people in Europe.  There are more than 7,000 such disorders (80% of which have identified genetic origins), and collectively, they affect an estimated 350 million people worldwide.  Yet because of the lower prevalence of the individual diseases, they often receive little attention. The 2012 Rare Disease Day theme is “Solidarity,” highlighting the importance of collaboration and support among patients with rare diseases.  Despite the wide variability of symptoms, patients with rare diseases face many of the same challenges, which may include a difficult diagnosis process, isolation, high cost drugs (if they exist), lack of information and inequities in the availability of treatment and care. At PatientsLikeMe, we are committed to bringing patients together and speeding up the pace of medical research.  That’s why we partnered with the R.A.R.E …

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Rare Disease Day 2011: “Rare, But Equal”

For patients with prevalent diseases, it may be easy to find others with your condition.  You meet them at clinics; you run into them when seeing your specialist; or you participate in one of the support groups in your area.  For those with rare diseases, the simple act of finding another patient like you isn’t always as easy.  You might be the only patient your doctor has seen with your condition.  Finding another patient often becomes a goal and sharing and learning from them a welcomed reward. Alongside NORD and EURORDIS, we are celebrating Rare Disease Day and they’ve deemed this year’s theme “Rare, but Equal.”  At PatientsLikeMe, patients are patients, no matter what their condition.  Patients with rare diseases are sharing their health information alongside patients with more widespread conditions. So, who do we have sharing information about their rare disease?  To date, more than 455 patients with Multiple System Atrophy and 122 patients with Progressive Supranuclear Palsy, both neurodegenerative disorders that mimic Parkinson’s disease, have joined our community.  Do you have Neuromyelitis Optica, the autoimmune inflammatory disorder affecting the spinal cord, optic nerve, that has lesions often misdiagnosed as multiple sclerosis?  There are 332 patients just like you.  …

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It’s Rare Disease Day!
Interview with Gracie (Devic’s NMO Patient)

Today, we’re joining the National Organization for Rare Disorders (NORD) to help raise awareness for Rare Disease Day.  In recognition of the day, we recently interviewed Gracie, a valued member of our Devic’s Neuromyelitis Optica (NMO) community. Devic’s NMO is a rare autoimmune inflammatory disorder which affects the optic nerve and spinal cord and is often confused with Multiple Sclerosis (MS).  Compared with MS, Devic’s brain lesions affect different parts of the nerve cell, spinal lesions are larger, and relapses occur in a different pattern. Here’s what Gracie had to say to our community moderator, Aaron Fleishman: (Aaron) When were you diagnosed with Devic’s NMO?  What was that like? (Gracie) In the spring of 2005, after a few months time of being hospitalized and misdiagnosed and doing a stint in rehab, I was definitively diagnosed with NMO via the Mayo clinic’s NMO IgG test.  Fortunately (or unfortunately, depending on one’s viewpoint), I was already fully aware of the implications of having the disease.  During the period of time that I was in rehab, I used their computers to research Idiopathic Transverse Myelitis, which is what I was originally diagnosed with.  While reading at the site of one of the more …

It’s Rare Disease Day!
Interview with Gracie (Devic’s NMO Patient)
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