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.
When I first became involved with online communities back in 2002, I moderated a small forum for patients with ALS/MND in the UK at King’s College Hospital to connect with one another, share tips and support, and to help our care center to serve them better. One area that remains controversial even to this day is clinical trials. ALS is a rapidly fatal and incurable illness, and as a young researcher I was often trying to field questions that patients had about the trials process:
“Why aren’t there more trials taking place?”
“Why do we have to have a placebo?”
“If researchers think commonly available treatments like dietary supplements or antibiotics might slow my disease, why can’t I just take them anyway rather than being enrolled in a trial?”
Given the severity of their situation and the slow pace of clinical trials (it’s estimated that it takes over 10 years for a new discovery to go from the lab to the clinic), I certainly sympathized with their frustrations and did my best to get the answers they needed, asking my medical colleagues where I could and translating the technical jargon. A few patients decided to go a step further than challenging the status quo, however, and took actions into their own hands. One patient taking part in a trial sent her medication off to a private lab to test whether or not she was on placebo, and several others took off-label experimental ALS treatments like creatine or minocycline. Some of them even went abroad to China for highly controversial stem cell treatments. In the end, none of these interventions were shown to slow the disease, but it certainly showed what was possible when a smart, dedicated, and adventurous group of patients could organize online.
Fast-forward more than ten years and we see a very different world, where patients have a growing voice in treatment approval, the design of patient reported outcome measures, and increasingly share their trial experiences through social media. That’s what inspired us to write our latest article just published in the British Medical Journal which details our experiences with how members of our community have replicated a clinical trial, have started sharing their data with leading researchers to debunk alternative “cures” for their disease, and have even started taking trials into their own hands. We feel these are symptoms of a greater underlying problem that has been with the design of clinical trials from the start – trials are all take and no give.
Patients take all the risk with their health, their time, their bodies, and in return they are supposed to temporarily suspend their instinctual curiosity to know more about their health status through self-monitoring or to interact with other patients who might be in a trial, all for the good of science and other patients. Modern technology up-ends that power dynamic though, and now it’s almost as easy for a patient to measure their health status with patient-reported outcomes, wearable devices, or even lab tests as it is for their doctor. In that case, can we really say patients are truly blinded anymore? The double-blind placebo-controlled randomized controlled trial is a “gold standard” in medicine, but unless it adapts to the changing realities of the patient empowerment landscape, it will be inherently unsustainable.
That’s why our team is embarking on research this year to gain a new understanding of what patients want from trials and a new understanding of the social contract as patients want it written. Our hope is that we can bring them together with the scientific needs of researchers to conduct robust science. It won’t be easy, and it might not be popular with everyone, but it’s the best path we can see towards faster cures that respects the rights of patients to be partners, not just subjects.
Some of us might give our significant others and family members flowers and chocolates on Valentine’s Day, but did you know that February 14th is also National Donor Day? That’s right – in the spirit of love and giving, today is all about celebrating past donors and raising awareness for the five points of life: organs, tissues, marrow, platelets and blood.
There is an urgent need for donors in the world today. According to the U.S. Department of Health and Human Services…1
- …every 10 minutes, a patient is added to the organ donor waiting list
- …every day, an average of 18 patients die due to a shortage of available organs
- …in 2010, there were 2.5 million deaths in the U.S. alone – imagine if all of them were organ donors, because…
- …right now, there are more than enough people waiting for an organ to fill a large football stadium twice over
So, how can you help? You can register to become an organ or tissue donor, or you can find a local blood or platelet drive and register for the Be The Match national bone marrow registry.
If you have received an organ donation – or are waiting for one – you can reach out to the transplant community at PatientsLikeMe and connect with members who have received heart, kidney, liver, lung or pancreas transplants, among many other types. You can also check out the extensive PatientVoice report on what life is like after a transplant and share your experience in the PatientsLikeMe transplant forums.
Multiple Sclerosis Awareness Month is fast approaching in March, but we just couldn’t wait until then to share our recent interview with patient advocate and PatientsLikeMe member Starla Espinoza, also known as baebae. On top of being a PatientsLikeMe member since 2007, tracking her health and sharing experiences with the community, she’s also a blogger and big advocate for raising MS awareness all year round. Check out what she had to say about her supportive family, her passion for MS awareness and the simple pleasure of riding a motorcycle.
Can you remember what your first signs or symptoms were? And what was your diagnosis experience like?
My first significant symptom was a buzzing sensation in my left hip. I always describe it as “a microscopic bee or hummingbird” trapped in my hip that is desperately trying to escape. It was the strangest feeling, especially since I didn’t know what was going on. My diagnosis took almost a year from the time that the buzzing in my hip started. I had more symptoms like numbness from the waist down, a tight gripping sensation around my midsection (MS hug), and dizziness for 6 weeks, just to name a few. Within a 6 month time frame, I underwent tons of testing, including blood tests, spinal taps, MRI’s of my brain and spinal cord, a CT scan, and an x-ray of my spine. I was eventually told that I had Transverse Myelitis. On December 13, 2007, I was finally diagnosed with MS. My neurologist showed me my latest MRI scans and sent me home with a bag of information and a prescription for my MS treatment to be started immediately. I cried as soon as I left his office. Within 3 minutes I heard God’s voice saying, “Don’t cry, I will never leave you nor forsake you. So do not let your heart be troubled, nor let it be afraid.”
As a mom with three daughters, how has MS impacted your family life?
As a mom of 3 girls, my MS diagnosis brought us all closer than we already were. Their names are Daesia, Dayna, and Aliya and they were only 12, 7 and 6 when MS presented itself. The girls saw me at my worst before we knew what was wrong with me. They know how to support my condition and me. My first treatment involved daily shots, and they even participated in the beginning by helping their dad care for me and give me my shots. They, along with my husband, are very active in my efforts to raise money for the MS Society every year. We bake goodies for our bake sale and we have all pounded the pavement together to solicit donations from local merchants for prizes to include in our annual raffle drawing. My girls and my husband are true MS Warriors and advocates for MS. Makes me teary-eyed just thinking about all we have done together for the past 6 years to show people that MS cannot stop you from living your life and following your dreams. My girls are now 18, 13 and 12, and they want to do everything that they can to fight MS. We are all in this together.
You mention your religious faith and passionate activism to raise awareness for MS. Can you tell us a little about that?
My story proves that God can use me. You see, God has been by my side since the beginning of my MS journey and even longer than that. He showed me His purpose for me in this MS journey. I discovered that He could use me to raise awareness for a condition that a lot of people were unaware of. A passion was sparked inside of me by God to take ownership of this cross that I had to bear, known as MS. I developed the strongest desire to tell everyone everything that I knew about MS. That even though I have MS, it does not have me. I wanted to use my voice in the most effective way possible, and He made me a patient advocate about 3 years ago. I often get the opportunity to speak at events and dinners, radio and news interviews, and now an interview here on PatientsLikeMe. All I can say is, wow, 🙂 I’m really doing this.
It looks like you use your Multiple Sclerosis Rating Scale, and track you symptoms and treatments a lot on your PatientsLikeMe profile. What inspires you to share and donate so much of your health data with the community?
Sharing my health information with the community is part of being an advocate. If I am willing to be transparent, hopefully others will be inspired to do the same. Together, we are soldiers in this battle against MS. Sharing helps me track important health information and improve research about this disease. It’s very easy for me to do, and I can even do it from my phone. In turn, it benefits us with new treatments and ways to deal with MS. I get excited just thinking about it. Tears again, oh my.
For those who might not follow your blogs yet, can you share what they’re all about?
My oldest daughter Daesia gets credit for the creation of my MS blog. She was 12 when I was diagnosed and after 2 years, she started to realize that most of the people she encountered had never heard of MS. Her peers and teachers had no idea what it was. She wanted me to blog about how MS personally affects me. I was already a blogger so it was a no brainer. Daesia named my blog, Did I Mention My MS. What a genius idea for a 14 year old! In my MS blog, I share personal details about my MS journey. I even shared a post that Daesia wrote for a school paper. Wow, it sure does give me a lot of insight about how she viewed MS in her young mind. My blog posts include information about my MS treatments, medications that I take to combat the side effects of MS, what I’m doing in my community to raise funds and awareness, personal struggles with doctors and how I fought for my rights at work as someone with an “unseen” disability. It’s all about the good, the bad and even the ugly issues that I have personally dealt with as an MS patient.
What’s it been like to connect to others living with MS on PatientsLikeMe?
The first time I heard about PatientsLikeMe, I thought, “What a great idea!” Connecting with others who live with MS on PatientsLikeMe has been super beneficial in so many ways. MS patients are sooo resilient because after all, MS is not limited to one area of our bodies. It affects us from head to toe, physically and emotionally. We draw so much strength from each other, and PatientsLikeMe gives us the platform to share how we cope with everything from new treatments, clinical trials and social security disability benefits, to name a few of the topics discussed in our forums. I have even established a relationship with a patient who lives in my area via PatientsLikeMe, and she has even joined my walk MS team, The MS Warriors. I love the fact that PatientsLikeMe brings all kinds of patients together. I have shared the PatientsLikeMe website with so many people, including a friend fighting bipolar disorder and even my husband, who struggles with chronic pain.
Finally, we see that you like to ride motorcycles! Awesome! Tell us about your travels on the open road.
Aww, the joy of riding a motorcycle. I ride with my husband and it is such an exhilarating, invigorating and therapeutic experience, all at the same time! We live in Northern Nevada (Reno/Sparks), and with the mountains in the background, we discover some of the most beautiful and picturesque scenery on the “open” road. You have no fear; it’s like flying like an eagle (the symbol often seen on motorcycle clothing and gear). I started out riding with my husband as a passenger until he bought me my own small bike for my birthday. It was only 550 cc’s, and he taught me how to ride it. Before I knew it I was following him on his 1850 cc Harley Davidson Electraglide Classic around town. I used to love it when we would go to downtown Reno. You see so much more when you are on a motorcycle. After 3 years, I sold my bike, and now I am a passenger again on my husband’s big (custom painted) Harley Davidson Electraglide Classic. We even have matching helmets to match our bike. Not meaning to brag, but a motorcycle enthusiast such as myself cannot talk about riding motorcycles w/o specific details. This gives the whole experience to non-riders and understanding to riders. Sometimes we ride in groups and take trips to Lake Tahoe, my favorite place. Surrounded by tall pine trees, cabin homes and casinos with the lake in the background makes the drive such a vibrantly wonderful experience. Every year in Reno, NV there is an event called Street Vibrations. It’s all about motorcycle enthusiasts. People travel from all over the country, sometimes on their bikes alone or in a pack with their club. It is a loud 3-day event, and we always look forward to it every year.
Companies Partner With TED Fellow Dr. Max Little to Map the Severity of the Disease
CAMBRIDGE, Mass.— February 5, 2014—PatientsLikeMe and the nonprofit research organization Sage Bionetworks announced today the launch of a new crowdsourced study to develop voice analysis tools that both researchers and people with Parkinson’s disease (PD) can use to track PD disease progression.
In collaboration with TED Fellow Dr. Max Little, the Patient Voice Analysis (PVA) project will for the first time combine data from two sources: phone-based voice recordings that Dr. Little’s software collects and analyzes to detect markers of PD; and information reported by patients using PatientsLikeMe’s Parkinson’s Disease Rating Scale (PDRS), a tool that documents patients’ answers to questions that measure treatment effectiveness and disease progression.
Both sets of data will be analyzed by the PVA team composed of Dr. Little and scientists from PatientsLikeMe and Sage Bionetworks. In later phases of the project, the de-identified data sets will be available to the broader research community on Sage Bionetworks’ cloud-based computational research platform (www.synapse.org). By crowdsourcing the analysis, the PVA team hopes to identify relationships between voice markers (like tremors in speech) and clinical signs of Parkinson’s disease (such as tremors in the body) so that it becomes possible to monitor patients’ progression with a short phone call. Current monitoring efforts for PD typically require patients to undergo multiple lab visits that cost both time and money.
“We want to democratize the process of monitoring disease progression and return the results to patients as quickly as possible, so they are empowered to make the best decisions,” said PatientsLikeMe Vice President of Innovation Paul Wicks, Ph.D.. “We invite anyone who has PD to take part and join PatientsLikeMe, so they can stay informed about their condition and generate new insights about this disease,” said Wicks.
Dr. Stephen Friend, President and Founder of Sage Bionetworks, echoed Wicks’s enthusiasm for the collaboration. “We are so excited by this opportunity to work together with Dr. Little and PatientsLikeMe. If successful, I fully expect that Dr. Little’s voice software will be what PD patients and their families the world over use to monitor themselves in real-time, and thereby gain insights on how to better manage their own health.”
For more information on the Patient Voice Analysis Project visit: www.patientslikeme.com/join/pva
PatientsLikeMe® (www.patientslikeme.com) is a patient network that improves 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. With more than 250,000 members, PatientsLikeMe is a trusted source for real-world disease information and a clinically robust resource that has published more than 40 peer-reviewed research studies. Visit us at www.patientslikeme.com or follow us via our blog, Twitter or Facebook.
About Sage Bionetworks
Sage Bionetworks (http://sagebase.org/) is a nonprofit biomedical research organization, founded in 2009, with a vision to promote innovations in personalized medicine by enabling a community-based approach to scientific inquiries and discoveries. In pursuit of this Mission, Sage Bionetworks is working with others to assemble an information Commons for biomedicine:
- That is supported by an open compute space (Synapse: www.synapse.org)
- That supports open research collaborations and innovative DREAM Challenges.
- That empowers citizens and patients with the tools they need to partner with researchers and share their data through Sage’s BRIDGE platform (http://sagebase.org/bridge/) to drive the research studies that matter most to them.
Sage Bionetworks is located on the campus of the Fred Hutchinson Cancer Research Center in Seattle, Washington, and is supported through a portfolio of philanthropic donations, competitive research grants, and commercial partnerships.
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