8 posts tagged “Rare Disease Day”

Member Kimberly opens up about living with a rare disease

Posted February 28th, 2017 by

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…

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“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

Posted February 29th, 2016 by

 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.

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 occupational therapist to assess my home and she provided equipment to help, like a sock aid and a long-handled comb. She also authorized the council to install a wet room, which provided safety and independence. When my shoulders deteriorated it became painful to change gears when driving so I was able to get an automatic car through the Motability scheme in the UK.

How has your life changed since your diagnosis?

A major problem was washing my hair because I was unable to hold my arms up for any length of time, so I’ve been going to a hairdresser weekly for years. I’ve also lost three inches in height because my spine’s compressed. I’m only five feet now, so I’ve had shelves lowered in my flat and I’m currently saving to adapt my kitchen.

As for work and social life, everything’s changed. I haven’t worked since diagnosis, which coincided with redundancy because of my disease escalating. I contacted The AKU Society in February 2010 and was invited for three days to undergo tests to aid research and to help me. The trip was wonderful because I met experts who understood my disease and I no longer felt isolated. The tests revealed a lesion on my chest and I was referred for a CT scan, which identified a 9cm tumor tucked underneath my breast bone – beside my lungs and heart – which had to be removed. I wasn’t symptomatic and it was thanks to Liverpool this was identified!

The main problem I face is financial. Having left work at 50 I’ve lost a good income and standard of living. I’ve also spent my redundancy on emergencies like a new washing machine, refrigerator and to supplement my income, and have lost 15 years of pension contributions. However, the worst part is knowing there’s no cure, and trying to come to terms with it.

However, the AKU Society’s been brilliant, as has peer support, and I’ve been surgery-free for more than two years. But moving forward, I’m having a right hip replacement in March and carpal tunnel surgery in May. My social life is very different now because there are activities I can’t participate in, and although I’ve always loved to travel this is also difficult now. Essentially, my life has completely changed and while I try to remain positive and independent I sometimes suffer from depression.

What changes do you think need to happen in society to raise awareness about rare diseases like AKU?

AKU is largely an invisible disability – patients look perfectly normal on the outside. I have a blue badge for parking because I need the extra space to get my legs out of the car, and because I have a problem walking, but I’ve been shouted at for parking in a disabled space because I don’t fit the stereotype. So I’d like to see a campaign to highlight the difficulties of invisible disabilities. The government hasn’t helped either because they’ve targeted vulnerable groups in society and labeled the disabled as fraudsters. Families of AKU patients need support, too, and could help each other if a group was established or a forum available.

How can healthcare become more compassionate towards patients with rare diseases?

I’d like to see every newly diagnosed patient given counseling and have an AKU buddy for peer support.

Rare diseases like AKU are known as orphan diseases because they affect a small percentage of the population. As a result, they lack funding and largely remain unknown to government, medical practitioners and the general public. I would love to see a campaign to educate government, medical practitioners and the general public about invisible disabilities and rare diseases. I’ve been involved in teaching third year medical students for the last three years so that they’ll know how to identity AKU earlier and to think outside the box!  Medical practitioners need to listen to their patients and if a patient reports something that doesn’t easily fit a diagnosis, this could be the red flag pointing to a rare condition.

I think patients will start to receive better care once doctors listen and respond quickly, which will come about through teaching, improved resources, funding and changing the mind sets of the public and government. I’d also like to see more partnerships between patients with rare diseases, medical practitioners and government because we are the ones that know what is required to give us the care we deserve. Therefore, we need to educate and inform all the key stakeholders so that they too will become advocates.

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1http://www.rarediseaseday.org/article/what-is-a-rare-disease


Day-by-day, hand-in-hand

Posted February 28th, 2015 by


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 involved in spreading the word:

Rare diseases have a personal connection with PatientsLikeMe – our co-founders’ brother, Stephen, was diagnosed with ALS 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 more than 3,700 members …and counting.

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1 http://www.rarediseaseday.org/article/theme-of-the-year-living-with-a-rare-disease

2 http://globalgenes.org/rare-diseases-facts-statistics/


Uniting for hope on Rare Disease Day 2014

Posted February 28th, 2014 by

hopeToday, 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.


1 http://rarediseaseday.us/about/


Raise Your Hands for Rare Disease Day

Posted February 28th, 2013 by

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.

PatientsLikeMe Employees Raising Their Hands for Rare Disease Day 2013

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 for patients with alkaptonuria (AKU), the first genetic disease discovered.


Rare Disease Day: Together, We Can Do More

Posted February 29th, 2012 by

All Around the World, People Are Observing Rare Disease Day Today

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 Project last November to find and connect one million patients with rare diseases.  “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.”

If you know anyone with a rare disease, please encourage them to join PatientsLikeMe and help create a well-defined patient registry for the benefit of both patients and researchers. Also, PatientsLikeMe members—with or without a rare disease—can show solidarity by following the R.A.R.E Project’s profile.


Rare Disease Day 2011: “Rare, But Equal”

Posted February 28th, 2011 by

RDD_whiteFor 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.  Sharing right alongside these patients you’ll find 388 patients with Progressive Muscular Atrophy (a rare subtype of ALS which only affects the lower motor neurons) and 331 with Primary Lateral Sclerosis (a subtype of ALS which affects the upper motor neurons).

Many of you also know that we actually started PatientsLikeMe focused on the rare neurodegenerative disease, ALS.  Six years later, there are now more than 4,000 ALS patients-plus almost 20% of the newly diagnosed in the U.S. every month-sharing their journeys and learning from one another.  (You can read about highlighted milestones in our 2010 ALS Awareness Month blog.)  In 2011, we’ll continue our heritage of serving those with rare diseases by improving this overall experience of finding a “patient like me.”

There are no major awareness raising pink ribbons or yellow wristbands for these rare diseases.  But, there is a group of patients who have found each other, who are sharing with one another and the world their disease experience.  And, that will translate to accelerated research and better outcomes – two things we are hoping to make a little less rare.

PatientsLikeMe member mcotter


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

Posted February 28th, 2010 by

Today, we’re joining the National Organization for Rare Disopicture-12rders (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:

apics2 (Aaron) When were you diagnosed with Devic’s NMO?  What was that like?
27744 (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 prominent U.S. teaching and researching facilities, I came across NMO.  I can vividly remember saying to myself: Thank God that I don’t have that.  It could have been so much worse.  I felt extremely thankful to have dodged that particular bullet.Less than two months later, I was back in the hospital with another acute attack.  This time, the paralysis had spread to mid chest, and I knew then that it was unlikely to be Idiopathic Transverse Myelitis.  While in rehab, my physician had told me that most cases of TM were monophasic, and that the best thing that I could do for myself would be to learn to cope with my deficits and move on.  During the second long hospitalization, I did not respond to IV SoluMedrol, so underwent a course of rescue plasmapheresis.  It was at that time that my current neuro submitted my serum to the Mayo Clinic for the NMO IgG test.  Actually, in my heart of hearts I already knew what the result would be.  It came back positive.   What was it like?  It was like being hit in the chest with a sledgehammer.
apics2 (Aaron) You’re one of the founding members of our Devic’s community, and a 3-star contributor.  How has being a member of PatientsLikeMe helped you?
27744 (Gracie) PatientsLikeMe is a unique site.  The singular most important function is the data sharing.  Researchers, studies, and clinical trials inform us as to how a particular drug or treatment will theoretically affect the disease process.  PatientsLikeMe offers the opportunity for patients to see how a particular treatment or medication works in the patient community, without the controls and structures of a clinical study.  I have not found another site on the Web, that has the graphing capabilities that PatientsLikeMe offers.  Most sites, including my own, are Forums, but offer no capabilities beyond that format.  I was thrilled whenever Paul Wicks gave me the news that NMO would be included among the [PatientsLikeMe] communities.
apics2 (Aaron) Today is Rare Disease Day.  Do you have a message for people with Devic’s (or those with other rare life-changing conditions)?
27744 (Gracie) The most important thing that an individual diagnosed with Devic’s NMO can do for themselve, is to seek out a neurologist who is not only familiar with the disease, but has treated cases as well.  Although it is being diagnosed more frequently with the advent of better clinical imaging and the Mayo Clinic’s NMO IgG test, it is still extremely rare and the majority of neurologists have not seen or treated a case.  I’m one of the lucky ones.  I was diagnosed at a large teaching and research facility and have an excellent neurologist.  Many patients are not so lucky.
apics2 (Aaron) Have you heard of the Accelerated Cure Project Repository? What does it mean for people with Devic’s? 
27744 (Gracie) The Accelerated Cure Project is an amazing organization.  Currently they are working in tandem with the Guthy-Jackson Charitable Foundation and are compiling an NMO data and samples repository.  They have done everything possible to facilitate the process, including sending a traveling nurse to the home of the patient to procure the samples.  Although I have not participated yet, I fully plan to.  Without data and samples, there can be no research and without research, there can be no progress.  The majority of us within the NMO community are willing to do anything that we can to facilitate research.  I’m so thankful for the effort of the Accelerated Cure Project.
apics2 (Aaron) We’re thankful too, Gracie.  And we’re thankful for all that you share every day with patients like you.

To learn more about the rare disease communities on PatientsLikeMe, including Devic’s, Progressive Supranuclear Palsy (PSP) and Multiple System Atrophy (MSA), please visit www.patientslikeme.com.