For Rare Disease Day, most patient advocates lobby Congress, hold fundraisers, or organize awareness events. That would have been my first preference this year.
But like many other rare disease families on a day-to-day basis, I was completely occupied with fighting the rare disease about which I advocate, Hunter Syndrome or Mucopolysaccharidosis II. This year, Case's annual monitoring tests for the clinical trial he has participated in for the last four years were scheduled for the week before and after Rare Disease Day.
So with that being the case, I decided to live blog our visit at bit.ly/HS-live
and with the hashtag #HunterSyndromeLive
on social media.
What is a live blog?
According to Wikipedia, a live blog
is a single post which is continuously updated with timestamped micro-updates which are placed above previous micro-updates. During liveblogs, a wide number of media, including video, audio, images and text, can be incorporated in order to explain what is going on at a specific location. Live blogs are usually ordered from top-to-bottom so that the most recent updates appear at the top of the post.
In this case, I post updates on the live blog post throughout each day about what we are doing as well as pictures, video, and commentary of the issue we encounter. I close each day with a video blog, or vlog, discussing the events and issues we faced that day as well as their broader implications for rare disease clinical trials and potentially for other families.
Why live blog this rare disease visit? What does it have to do with Rare Disease Day?
Considering the controversy over clinical trial participants' use of social media, why would I deem it important enough to blog about an actual clinical trial visit?
First, the live blog is not necessarily about this specific clinical trial. The issues I discuss can and do happen in many rare disease clinical trials.
Second, for all of the events and activities that relate to Rare Disease Day, the reality is that in between each February 28 of each year, we are living
the rare disease life, and that can involve clinical trials, but also just the medical procedures and day-to-day considerations of caring for ourselves or our child facing a rare disease.
Third, the blog was intended to highlight several themes to specific audiences involved in the clinical trial process, specifically:
Families considering enrolling in a clinical trial should get a real view inside a trial. A real view not only prepares them from an expectations standpoint - trials are hard, require flexibility, and can alter your life significantly - but also can give them confidence that they can logistically make it work. In our experience, many families felt that the logistic challenges to participating in a trial were too daunting, until they walked through it with one or more other parents who had faced the same or similar challenges.
Industry and FDA should better understand the implications of what they are asking from trial participants. Until you are deeply in the life of rare disease, it is difficult to understand the ramifications of asking families with a special needs child to endure four days in a row of several appointments a day. Or weeks at a time away from home. In many ways, I wish I had live blogged a visit back at the beginning of the trial, when Case was truly more symptomatic and required extensive assistance, modifications to our hotel room, specialized toys, baby gates, food, and activities, but frankly, I did not have the time to live blog back then. My extra time was absolutely consumed with his every need. Only by understanding from a patient/caregiver perspective can industry design, and FDA approve, trials that are more likely to enroll and to accurate assess an experimental treatment. We often don't see those families who don't enroll in trials because of logistics challenges, such as single parent families, families with multiple affected children, and families living below or around the poverty line.
The rare disease community should consider how we can best work together to design trials that most effectively and efficiently bring drugs to market while still effectively serving the disease community in the interim. We have yet to design a scalable model for bringing together the various constituencies in the rare disease community to design clinical trials from a logistic, clinical, and statistical standpoint that will meet FDA criteria but also provide the best opportunity for patients and their families to participate. In addition, long-term service of an individual rare disease community suggests a more broadly inclusive clinical trial strategy involving a combination of surrogate endpoints, compassionate use, and accelerated approval to bring treatments and cures to market more quickly for devastating rare diseases.
For the above reasons, I thought it both symbolic and potentially beneficial to live blog this clinical trial visit.
This blog represents the reality of what many of us are doing day after day between each February 28th.