13 posts tagged “Rare diseases”

Getting to know our Team of Advisors – Steve

Posted May 29th, 2015 by

A few weeks ago, Amy shared about living with a rare genetic disease in her Team of Advisors introduction post. Today, it’s Steve’s turn to share about his unique perspective as a scientist who has been diagnosed with ALS. Below, learn about Steve’s experience with ALS research, his views on patient centeredness and what being a part of the Team of Advisors means to him.

About Steve (aka rezidew):
Steve is a professor of Developmental Psychology at the University of North Carolina at Chapel Hill. He was diagnosed with ALS in the fall of 2013 and his symptoms have progressed with increased debilitating weakness in his arms and hands. He was excited to join us as an advisor to lend his expertise on research methodology to the team. He has authored or coauthored an impressive 6 books, 91 peer reviewed publications, and 26 published chapters. When we talked about giving a background on research methods to the team, Steve said ‘I can teach it.’ He is passionate about helping teach others and believes “as a scientist who has been diagnosed with ALS, I regret having this disorder but I am eager to use my unique perspective to promote and possibly conduct relevant research.”

Steve’s view of patient centeredness:
“The obvious perspective is that patients should have some voice in decisions regarding what research should be conducted, what the participants in research should be expected to do, how participants in research should be selected, and how results of research should be communicated.”

Steve on being part of the Team of Advisors:
“Being a member of the Team of Advisors has helped me understand a wide array of perspectives on patient-centered research based on my interaction with fellow patients who have various health problems and who have various levels of knowledge about research. I am impressed with the consensual consolidation that has emerged from the Team’s dialogue about research.”

Steve’s experience with bibrachial ALS and research on ALS:
“A diagnosis of ALS can be associated with several different configurations of symptoms. Some PALS (Patients with ALS) begin with problems in their feet and legs, some begin with difficulty talking and/or swallowing, and some, like me, begin with weakness in their hands and arms. Also, some PALS start relatively young and have other PALS in their family. And, some PALS have dementia. We all lose our ability to breathe eventually and our array of symptoms broadens, but our initial experience can be very different. I am surprised and disappointed that the medical community has not done more to identify our subtypes and to track our progression within our subtype.

Developing a PALS taxonomy would help doctors provide support to PALS that is most relevant to our needs. It would also help us share our experience with fellow patients and learn from each other. An ALS taxonomy would also be extremely relevant for research on treatments. Ongoing research on ALS using rodents with SOD1 mutations may yield an effective treatment someday, but for now PALS would feel more supportive of this research if it used models that reflect the different taxonomies of ALS. We would feel even more supportive if more research allowed us to participate in studies that focus directly on medicines that could help our ongoing progressive terminal illness.”

More about the 2014 Team of Advisors
They’re a group of 14 PatientsLikeMe members who will give feedback on research initiatives and create new standards that will help all researchers understand how to better engage with patients like them. They’ve already met one another in person, and over the next 12 months, will give feedback to our own PatientsLikeMe Research Team. They’ll also be working together to develop and publish a guide that outlines standards for how researchers can meaningfully engage with patients throughout the entire research process.

So where did we find our 2014 Team? We posted an open call for applications in the forums, and were blown away by the response! The Team includes veterans, nurses, social workers, academics and advocates; all living with different conditions.

Share this post on Twitter and help spread the word for ALS.


Getting to know our Team of Advisors – Amy

Posted May 13th, 2015 by

We’re been introducing the PatientsLikeMe Team of Advisors on the blog over the past 6 months, and today, we’re happy to announce Amy, a member living with a rare genetic disease called Fabry. Below, she shares about the importance of being aware of patients as individuals, and how she’s learned to live (and thrive!) with Fabry.

About Amy (aka meridiansb):
Amy is currently on the Patient Advisory Board for Amicus Therapeutics where she serves as a patient voice for researchers as they work to develop a new drug for Fabry Disease. Amy is a great champion to have in your corner, with a self-reported ‘wicked sense of humor’, and passion for connecting others to the right resources and information. She has experience advocating for others as a medical social worker, and believes in the importance of getting to know a patient population, writing materials that they can relate to, and understanding how managing their condition fits into their life as a whole. Her tip for researchers and healthcare professionals: “Remember, not everyone fits into neat categories. Those that fall outside of what’s typical can be an invaluable resource when researching a particular condition.”

Amy on patient centeredness:
“Patient-centeredness means that above all else, you have an awareness of the patient as a unique human being, because diseases don’t exist on their own, they happen to people. It means not always doing what is easiest for the doctor or researcher, but what is appropriate for the individual. It means being open-minded and adaptable, not everyone fits in a neat little box. It means not treating people like they are stupid just because they don’t have a medical degree. People know their own bodies, and live with their condition day in and day out and if doctors and researchers don’t listen they can miss crucial information that can help many. These days people have access to a lot of information, and they want to be treated like partners in their care not problems to be solved seen only through the filter of illness, and certainly not like a nuisance because they have an opinion about things.”

Amy on the Team of Advisors:
“Being a member of the Team of Advisors at PLM has been an incredible experience. Having had to quit school and work due to illness, I felt at times that everything I had achieved was for nothing and that I had nothing to offer to this world, which was beyond discouraging. Being a part of the Team of Advisors has given me a meaningful way to use my knowledge and experience to help shape the way physicians and researchers interact with patients. The first time I sat in a room with the team and the wonderful people at PLM I felt a sense of hopefulness that it was all happening for a reason. It taught me that even when your path is diverted by something out of your control, you can find a new path; there is good to be found in every circumstance even when you can’t see it right away. I feel lucky to have served on the Team of Advisors with such a diverse and passionate group of people.”

Amy on having a rare disease:
“Having any illness can be confusing and overwhelming, but when 95% of the doctors you see haven’t even heard of your disease, it can be exasperating and daunting. Having a rare genetic disease, Fabry, has presented me with an even greater need to advocate for myself and others with my same condition. I’m lucky enough to have a background working in hospitals as a medical social worker, so I am no stranger to advocacy and I have no problem speaking up; but this isn’t the case for everyone. Upon my mom’s diagnosis, and then my own, I quickly jumped onto message boards and support groups for Fabry, only to find there are many more questions than answers. I am lucky to have access to a geneticist that is familiar with Fabry, but most people don’t. Because our disease is so rare, many people are hundreds of miles from anyone else with Fabry. In person support groups aren’t really an option, so the internet and learning from each other on social media is crucial. I spend a lot of my time gathering questions from other people with Fabry and working them into my appointments, then reporting back to the message boards. Others do the same, and together we find our way to new tools to manage our lives with Fabry, new things to ask our doctor’s about, and new resources to call upon in trying to figure out this disease. In addition, I try to support others in being assertive with their doctors. I think we have been deeply conditioned in our society to respect authority and education, which is not inherently bad, but it can create an obstacle to honest communication with our health care professionals. It can be really intimidating! You try telling a person with 8-12 years of medical education and years of practice experience that you would like to teach them about a medical condition they don’t already know about! Some egos are better equipped than others to handle the learning curve required in having me as a patient. I ask a lot of questions and I expect good information in return. I always come from a respectful place, as I don’t expect every physician to know about Fabry, but I expect them to be open to learning about it. Some are more than willing and some aren’t and I’ve had to “break up” with my fair share of doctors who weren’t willing. But really, if they don’t care to continue growing as a provider, then I don’t really want them as my doctor anyway. So really, you have nothing to lose by setting high standards for your providers. But you have a lot to lose by remaining in the care of a doctor that wants to treat you like everyone else. You are not just like everyone else! You can miss out on valuable information that can seriously affect your care. So speak up, be respectful, but be assertive. And if you don’t feel that your needs are being met, cut your losses and find someone that does. You are the only one that can make those decisions for yourself! And if you need some moral support, just message me!”

More about the 2014 Team of Advisors
They’re a group of 14 PatientsLikeMe members who will give feedback on research initiatives and create new standards that will help all researchers understand how to better engage with patients like them. They’ve already met one another in person, and over the next 12 months, will give feedback to our own PatientsLikeMe Research Team. They’ll also be working together to develop and publish a guide that outlines standards for how researchers can meaningfully engage with patients throughout the entire research process.

So where did we find our 2014 Team? We posted an open call for applications in the forums, and were blown away by the response! The Team includes veterans, nurses, social workers, academics and advocates; all living with different conditions.

Share this post on Twitter and help spread the word for Fabry and rare diseases.