In recognition of Father's Day, TREND Community honors community member Rick Karl. Rick is the president of the Cure for Tay-Sachs organization (www.curetaysachs.org) which has raised over 4 Million Dollars and funded 9 research grants. He has partnered with TREND to help us study the impact of Tanganil on those living with Tay-Sachs Disease. He is working to find every treatment possible for Tay-Sachs children to honor his daughter.
Rick Karl always wanted to be a parent. A dad. When he met his partner, Bruce Steiger, they discussed the idea of children, and both agreed they wanted many! After three years and eight surrogacy attempts, Krystie Anna was born in 2006 on his birthday. In 2007, she was diagnosed with Tay-Sachs disease, a rare genetic disorder that neither Rick or the egg donor were tested for because there was no reason to suspect they might be carriers.
Despite or because of this diagnosis, Rick and Bruce were amazing fathers to their beautiful little girl. Although she couldn’t talk, she expressed her delight with her eyes and her smile, and they made sure to bring those out all the time. She lived a full and happy life in her 9 years, doing many wonderful activities including watching a Chorus rehearse and loving all of their rousing songs, some of which were sung at her funeral.
Rick and Bruce chronicled Krystie’s journey in a CaringBridge blog that had over 200,000 visits and is still beautiful to read today. The CaringBridge blog has months with no entries when everything was going well, entries about times in the hospital when the disease created problems with her breathing or her liver, and entries about wonderful trips, including trips to Maui and Key West. Krystie, like most of us, loved the beach and swimming. In 2015, a heartbreaking entry mentions that Krystie died peacefully in her car seat on the way to the Zoo. Even though I never met her, I can’t help wishing it was on the way back, so she would have had the fun of seeing the animals one more time.
Most children with Tay-Sachs are only expected to live until they are 5 years old, if they even make it that far. So, nine years is a long life for Krystie, and may be because her Dads quit the ir jobs, moved across the country and worked closely with doctors to find every treatment possible. We are so pleased to be working with two such wonderful people and parents.
If you or someone you love is living with GM1 or GM2 Gangliosidoses please consider joining our initiative. Learn more here: news.trend.community/home/gm1-gm2-tanganil-health-initiative.
CAPTURING PATIENT EXPERIENCES WITH OFF-LABEL USE OF TANGANIL
TREND Community is launching the Tanganil Health Initiative in collaboration with NTSAD (National Tay-Sachs and Allied Disease) and the Cure Tay-Sachs Foundation (CTSF) to document GM1 & GM2 patient experiences with off label use of Tanganil, available without a prescription from Europe and indicated for the treatment of positional vertigo (dizziness). This observational study will be designed to better understand the benefits and risks experienced by patients taking Tanganil to treat symptoms associated with GM1 & GM2 Disease. TREND Community will compile the data contributed by Health Initiative participants and produce a report of deidentified data that they can share with their medical teams, family members, and others in their community.
GM1 & GM2 patients and caregivers who are using or planning to use Tanganil will be invited to participate in this TREND Health Initiative through the TREND platform. The participants will join a private, online community only for these participants for support and sharing. Participants will be asked to answer regular survey questions and keep an online journal to track their experiences with the drug. TREND Community will host a kick-off webinar to make introductions, explain the process and answer questions. The time investment will be kept minimal, and participants are reminded to consult with their physicians regarding medical questions.
The information shared within the private discussion space, along with the data collected from targeted questionnaires and participant journals, will be analyzed periodically by the TREND Community Data Team and the output will be shared back with the Health Initiative participants, NTSAD/CTSF and other key stakeholders. All such data shall be kept anonymous.
HOW IS THIS HEALTH INITIATIVE LIKE A REGISTRY?
All participants will be required to sign an electronic consent form affirming that they understand the purpose of the Health Initiative and agree to share their data (with TREND Community, NTSAD/CTSF, and back with the particpants’ communities).
Participants Remain Anonymous
All data contributed will be deidentified meaning it cannot be linked back to individual participants.
Data Informs Research
Like data from registries, TREND Health Initiative data can be used by researchers and pharmaceutical companies to understand disease burden, generate hypotheses for future research and design better clinical trials. TREND Community knows the drug development process and is working closely with FDA to establish guidelines for the consideration of anecdotal data to inform the FDA review process.
HOW IS THIS HEALTH INITIATIVE DIFFERENT FROM A REGISTRY?
Whereas registries generally track a broad range of information, during the Tanganil Health Initiative participants will record data specific to their experiences using Tanganil. Unlike a registry, TREND Community offers participants an exclusive and private discussion space where they can communicate with others who are also on this journey. A Community Manager will facilitate these discussions and will make every effort to help participants find answers to specific questions. Participants will be encouraged to share their experiences and provide one another with support. The information shared within this discussion space will also be analyzed. Using natural language processing and machine learning techniques, TREND Community can turn these conversations into data.
Additionally, TREND Community shares data back with Health Initiative participants. This information can be used by participants to have better and more informed conversations with their physicians.
Become a Citizen Scientist by sharing your experiences with Tanganil on TREND Community.
We will help you turn your anecdotes into evidence that can benefit your entire community.
How it works:
How Doctors’ Language in Medical Records Impacts Patient Care….. and Rare Disease Drug Development
By Blair Van Brunt
Patient advocate, Casey Quinlan, posted an article a couple of weeks ago on LinkedIn and I can’t stop thinking about it. The author of the article, Emily Bradley, wrote a blog piece about the clinical language that is used by doctors in recording patient visits that can negatively affect the direction of a patient’s care and medical community in general. The article is poignant and insightful with a dose of solution.
Emily Bradley noted a number of incidents in which her disease’s impact on her life, as well as on her financial situation and her job, forced her to miss doctor’s appointments or forego expensive treatment options. Despite her best efforts to communicate this to her doctors, when she looked at her medical records, the words she read made her feel unseen and unheard.
Can we change this practice?
“Perhaps instead of “patient failed X treatment” we can begin with “X treatment failed for patient” or incorporate more phrases such as “patient elected to…” and “patient shared X regarding medication XYZ.”
I relate to this from a rare disease mom point of view, from my job point of view - at TREND Community, trying to help patients and caregivers with their daily struggles while providing crucial patient experience data to the companies that can get them the treatments they need -and, of course, from the point of view as a patient myself.
In fact, could this language barrier also be preventing patients from gaining access into clinical trials? Is this kind of language not only hindering individual patient care, but perhaps the drug development process at large? And in the rare disease world, with so many of the diseases classified as life threatening, this is a very serious problem.
This is a heads up to all of us to:
By Sarah Inoue
Growing up, we never celebrated Mother's Day because my mother's birthday was on or near the day and because, as a family, we felt an extra day was unnecessary. I have always had mixed feelings about the holiday. On the one hand, taking time to thank someone and express one's love is always a good idea, and some people do need a reminder to do so. On the other hand, the holiday can be so difficult for non-traditional families, people without mothers, people with abusive mothers, the list of problems can be long. Once, a college friend of mine and I went out for brunch on Father's Day and the waitress asked why we didn't bring our dads - well, because her father had died ten years ago. Holidays can often seem as if they are designed to remind us that our lives are imperfect, not normal, and lacking.
I don't mean to diminish the experience of people who have wonderful Mother's Day celebrations full of wonderful presents and crafts from the kids and beautiful expressions of love. I'm so happy for you, truly. Enjoy the moment and the day fully and without guilt.
I am also, as a feminist mother, aware all the time of the amount of work mothers in the USA have to do - the Mental Load - without either strong infrastructure and society support and sometimes without spousal support. I'm constantly trying to un-gender parenting. The person who started Mother's Day, Anna Jarvis, according to Wikipedia, "envisioned a day venerating the daily services and sacrifices of mothers within the homeervices and sacrifices of mothers within the home" (https://en.wikipedia.org/wiki/Mother%27s_Day_(United_States)).
In my work with the rare community, I notice that mothers often bear the brunt of the work taking care of the child with a disease and this can overtake their other work and change the course of their lives and their careers. In some ways, this can be a beautiful undertaking, where mothers help the whole community and our society deal with these illnesses, but in other ways, it is may be just another way that our society depends on unpaid work to solve problems no one wants to look at.
In 2017, on Mother's Day, Rare Disease Report recognized the work of some of these mothers. I hope these stories make all of us feel better about ourselves and our lives and what we can accomplish. I applaud these women and everyone dealing with rare disease.
As mother day approaches, one of our TREND Community members reminded us today that rare disease can have a huge impact on the mother/child relationship. She asked some very powerful questions and we would like to extend them to all of our rare disease groups.
If you are a child living with a rare disease, how has the disease affected your relationship with your mother?
If you are a parent of a child with a rare disease, how do you think your child’s diagnosis has shaped your relationship with him/her?
If you have other children, how do you think rare disease has impacted their relationship with you?
In a few words how has living with rare disease impacted your family?
Please feel free to share any other thoughts relevant to this topic.
If you would like to participate, please login to TREND and add begin a new journal entry with #mothersday. If you are not yet a member of TREND Community, you can join on our web page www.trend.community (scroll to the bottom and request an invitation).
At the end of the week we will post a blog about the data that we collect and summarize your answers in an infographic. Participation will be anonymous and only summary data will be shared. TREND Community output cannot be linked back to individual participants and individual experiences are never shared without permission.
As part of the implementation of PDUFA VI and 21st Century Cures, the FDA is continuing to develop guidance to enable more widespread usage of patient experience data to inform regulatory decision-making and is trying to best address the questions of defining it and what methods to collect it that will be most acceptable for benefit-risk assessments.
What is Patient Experience Data?
Data that are collected by any persons and are intended to provide information about patients’ experiences with a disease or condition. It includes the experiences, perspectives, needs and priorities of patients related to (but not limited to):
– Symptoms of their condition and its natural history
– Impact of the conditions on their functioning and quality of life
– Experience with treatments
– Input on which outcomes are important to them
– Patient preferences for outcomes and treatments
– Relative importance of any issue as defined by patients
(Source: Title III, Section 3002(c) of the 21st Century Cures Act)
Who can collect this data?
Any persons including patients, family members and caregivers of patients, patient advocacy organizations, disease research foundations, researchers, and drug manufacturers
How to Collect This data?
Gathering patient experience data is about understanding a human perspective, and therefore uses data collection techniques from the social sciences, not the bio-chemical and medical techniques that pharmaceutical researchers have been using. Thus, the emerging guidance discusses ways to do good research in the social sciences. The main methods discussed are surveys/questionnaires, interviews and focus groups. These are good methods for eliciting people’s opinions and experiences, although there are others such as observation or analysis of conversations on social media.
TREND Community uses natural language processing and the machine learning techniques that accompany it on social media conversations to effectively and efficiently gather patient perspective and experience data to listen to what patients and caregivers are saying in their everyday lives. This novel technique has captured the interest of the FDA. We have had and are continuing to have conversations with the FDA regularly to hopefully clear the way for social media analysis techniques to be acceptable to help support better data collection and get the true patient voice heard.
Slides from FDA Workshop on Draft Guidance for Patient Experience data
Statement from FDA Commissioner 3/30/18
Patient-Focused Drug Development: Developing and Submitting Proposed Draft Guidance Relating to Patient Experience Data; Public Workshop; Request for Comments
A call to the rare disease community: Don't stop sharing your experiences! Reconsider WHERE you share them.
Maria Picone, Founder/CEO
In light of recent reports concerning privacy violations of millions of users’ Facebook data, patients and caregivers are telling us that they are nervous to discuss private matters on social media. As the mother of a child with a rare disease, I fully understand your concerns. However, we implore you: Do not stop! Reconsider where you are posting and find private spaces for private matters.
Why? When patients and caregivers share their experiences about their disease, its progression, possible treatments and under-recognized symptoms amongst themselves they are creating rich data that companies like TREND Community can analyze to accelerate the discovery of promising treatments and bring them to market faster.
How does TREND protect my privacy?
How does TREND Community secure my data?
TREND Community secures your data with state-of-the-art, private cloud services. Our security practices comply with all current HIPAA guidelines. Our internet security measures are continually updated and monitored in order to keep private information protected and safe. We use a world-class cloud-computing provider which has signed a HIPAA compliance agreement and earned SAS Type II certification. We take several technical and procedural measures to secure electronic personal health information (ePHI) transacted through the TREND Community platform.
Why should my community move its discussions to TREND?
How can my conversations help research?
Using computer algorithms, TREND performs an analysis of patient and caregiver discussions on social media to gain valuable insights into community perspectives on living with rare disease and a better understanding of the natural history of the disease. Our technology can quickly analyze vast amounts of data from years of discussions and identify important trends. These data can be used to generate hypotheses, sparking research interest in previously under-served patient communities.
Does TREND Community sell my data?
Yes, selling de-identified community experience data is part of our business model. We foster collaborations between our rare disease communities and the companies/organizations whose products and services are focused on helping them. As part of these efforts, we may sell summary data about your community to our partners to help them better understand your disease, perspectives and priorities (for example, risks and benefits) so that they may develop or repurpose products that demonstrate promise for the diagnosis and/or treatment of rare diseases or conditions.
Are there any risks to sharing my data?
We ask that our participants use discretion when conversing with others online. When sharing information about your diagnosis or health, there is always a risk that someone could use this information against you. Despite the risks, we hope that you will choose to participate in these important conversations because we believe that the more health information you share, the more we can advance science and improve your life and the lives of patients and caregivers living with your disease.
Founded by parents of a child with a rare disease, the mission of TREND Community is:
To accelerate the search for treatments, interventions and cures while improving the quality of life for individuals living with rare disease.
Follow us on social media @trendcommunity!