By Blair VanBrunt, Director of Community Development - email@example.com
As a mom of a daughter with a rare disease, Shwachman Diamond Syndrome, I wear or have worn many hats in this rare disease space. I am a mom, guardian, advocate, past president of the non-profit SDS Foundation with all that entailed, and now a member of a for-profit company, TREND Community, that helps individuals and caregivers with many different rare diseases bridge the gap between advocacy and industry.
It really struck me while at the past Global Genes Patient Advocacy Summit just how many hats I and so many others wear in the rare disease space and how so many of us are bridging the gap between non-profit and for-profit; advocacy for their child and advocacy for the disease at large.
We met people who currently have or lost a child with rare disease who are now working for the pharmaceutical industry who are trying to make a difference within the drug development process. We met people who started a foundation because of their loved one with a rare disease or people who have close friends who have a child with a rare disease and want to participate by joining and/or fundraising for an organization.
You wouldn’t expect to meet so many people who radiate positivity, joy and generosity at a rare disease conference where so many families need treatments and support. But go to the Global Genes Patient Advocacy Summit and you will meet many who exude all of these qualities who are buoyed by hope, who wear many hats and strive to bridge the gap.
As part of the GM1 & GM2 Tanganil Health Initiative, TREND analyzed the conversations shared in a private Facebook group created as an open forum for parents of GM1 and GM2 afflicted children to share their ideas, thoughts, concerns, and results of Tanganil. Following is our report.
Prepared by Sarah Inoue, PhD
This report is a first look at the information shared on the Facebook group: Tanganil for Tay-Sachs and Sandhoff created as an open forum for parents of GM1 and GM2 afflicted children to share their ideas, thoughts, concerns, and results of Tanganil. It summarizes the conversations that that took place on the Facebook group over the last year (starting in October 2017). The group has 131 members as of September 14, 2018. These members posted 74 times since October 2017 with 525 comments on those posts. Most of the information in this report comes from the comments on the posts. 200 of those comments were kind words to the original poster or someone else commenting, and the rest of the posts and comments had something to say about Tanganil or the disease burden of the person/patient posting.
The report will start with the good news and a list of all of the improvements noted when taking Tanganil. Many people reported improvements, and they may have reported the improvements more than once. Because we looked at anonymized data, we don’t know if the reports are repetitions or new reports, so the number of improvements is not as important as the list of all the improvements noted. We will also note the few times that people were not happy with Tanganil, and their reasons for that.
The main question that came up over and over was about dosing, so after listing the improvements, we will report on the discussions of dosing.
We will then give the information we have on the age of patients, length of time on Tanganil, the diseases mentioned, and other medications taken.
Sadly, three comments or posts mentioned that a child had died. Our hearts go out to the families of those lost, and we hope that this information collected will help in the search for treatments and a cure for these diseases.
The researchers who prepared this report are not doctors, are not providing medical advice and are only reporting what was said in the conversations online.
IMPROVEMENTS WITH TANGANIL
This is a list of the improvements noted while taking the drug. We have tried to classify them based on age. Some of the improvements are clearly observed in infants and some are clearly in older people. In general, the main improvement seems to be better physical strength and quality of life. Balance and smiling/giggling were mentioned frequently when discussing improvements.
Juvenile and LOTS:
Increased hand tremors were mentioned twice. On Tanganil, the trembling in someone or two people’s hands increased to the point where they had to stop taking the medicine and were scared to try it again. Another person remarked that there was no improvement with Tanganil.
All of the improvements were noted after people began taking the drug, but we have little information about how long they were taking the drug when they noticed the improvements. Three people noted that it took a month for improvements to be seen, others mentioned almost instantaneous improvements. 18 people mentioned the length of time they had been on the drug, although we suspect that one of those people was repeating the information, as time passed. People mentioned taking the drug from 2 weeks to 16 months.
Tanganil is not yet approved for these diseases, and no scientific research has determined the correct dose yet. Thus, the question of what the right dose is and what dose will be the most effective is an open one with no clear answer. One post has information specifically from a doctor with the clearest instructions for dosing. It says, “I just received a message from Dr <name> about starter dose for my son <name> part of his email is.............
‘Yes, indeed, we have some promising results in several patients, in particular children with TS. The “starter dosage” would be - 0.05 g per kg per day, given in three single dosages over the day.’”
This dosage information was repeated in other discussions on dosage and seems to be in line with what people were giving children or taking themselves.
One of the questions that also came up around dosing was the issue of taking a break from the medicine or not taking it for a period of time before resuming. This question arose nine times. One person described clearly taking a break every 6-8 weeks. In five months of taking the drug, she or he stopped twice and found this the most effective for improvement of symptoms. Others mentioned not taking a break and finding this the most effective. We have no evidence either way, but we do note that this is an area for further research.
One question asked specifically about a relapse when taking a break from Tanganil. One person mentioned that as far as she knew everyone who paused in taking Tanganil relapsed. This type of break seemed to be longer than the two weeks of a dose break, but it’s not completely clear from the conversation.
Much information was shared about the patients and people in the group. This is a summary of that information.
Not everyone in the group mentioned the disease they have or are caring for, but we found mention of a disease thirty times. Some people may have been repeating information, but because the data is anonymized, we don’t know if they are. This is just to give some sense of the diseases in this community and under discussion.
Age of Patient
Again, not everyone mentioned the age of the patient or their own age. People also grew older during the time frame that we were listening to the conversation. Age was mentioned 24 times. 9 months old and 10 months old had the most mentions (seven combined mentions). Two infants were 11 months and 15 months. Six were two years to 2.5 years old. Two were 3.5 – 4 years old. Then, they stepped up in age 8 years, 9 years, 14 years, 16 years old, and finished with 2-3 people who are 29 years old.
A few people mentioned other medications that are taken to relieve symptoms. Those included four mentions of Zavesca, and one each of Omaprazola, Ayurvedic, Keppra, Onfi, Cannabis oil, Antibiotics, Cord Blood Transplant, Gene Therapy, and Infergen.
A number of conversations mentioned the need for more studies of Tanganil. Everyone, as mentioned earlier, wants to know the best dose of the drug for the maximum effect. A few times, the group had the chance to talk to doctors or researchers and this usually was appreciated. Posts about these conversations received many comments (26 in one case).
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:
EXPLORING SMARTWATCH TECHNOLOGY FOR CHILDREN WITH PRADER-WILLI SYNDROME
July 20, 2018 – TREND Community is excited to announce The PWS Octopus Initiative to explore smartwatch technology for children with Prader-Willi Syndrome.
TREND Community is partnering with the family tech wearables company JOY to test the potential of their first product, the Octopus Watch, to help children with Prader-Willi Syndrome (PWS) overcome daily challenges common to this rare disease.
We are recruiting 30 families who have a child between the ages of 5-8 years and has a diagnosis of PWS to participate in this Health Initiative which is expected to last 4-6 weeks. If chosen, you will receive a free Octopus watch and be asked to participate in discussions and journal about the product and your experiences.
A team of experts including PWS specialists and data scientists will review the data collected to discover how these watches might help children with PWS overcome specific challenges and improve families’ quality of life.
Apply to Participate
If you would like to be considered for this Health Initiative contact us at firstname.lastname@example.org.
As a thank you, all applicants will receive a 20% coupon code towards a purchase of an Octopus watch.
Prader-Willi Syndrome is a genetic condition that occurs in approximately 1 out of every 15,000 births. PWS is recognized as the most common genetic cause of life-threatening childhood obesity. Children with PWS often experience cognitive and behavioral challenges including slow processing speed and high-levels of anxiety managing transitions (www.pwsausa.org).
JOY is a wearables family tech company on a mission to reinvent how parents share time with their children. No more stress, no more power struggles. Only precious moments spent focusing on what really matters: quality family time (www.heyjoy.io).
The Octopus watch is the first icon-based watch that empowers kids by teaching good habits and the concept of time. It fosters responsibility, independence and self-esteem.
About TREND Community
TREND Community is a digital health company with a mission to accelerate the search for treatments and cures while improving the quality of life for individuals living with rare disease (www.trend.community).
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