"Patient engagement" is the hot buzzword in the medical science community these days. It refers to the revolutionary idea that patients ought to be consulted during the process of drug research, development and approval. Not just studied like lab rats, but talked to and asked about their issues that go beyond their x-rays and blood test results.
We're in the early days now of figuring out how to fold patient engagement into existing processes, both scientific and regulatory. As a result, it's a bit of a wild, undefined frontier for all the parties involved: patients, patient groups, researchers, drug developers and governmental agencies. The one thing we do know, however, is that we can't just take anecdotes to the researchers and drug developers and clinicians and regulators. Those anecdotes have to be turned into scientifically sound data, using scientifically sound models and methodologies. Which is even more complicated than it sounds.
Fortunately, there are several organizations working on the various challenges. Recently, Network board members attended events that addressed these challenges. The EveryLife Foundation For Rare Diseases (a nonprofit dedicated to "accelerating biotech innovation for rare disease treatments through science-driven public policy," founded by Emil D. Kakkis, M.D., who is also the CEO of Ultragenyx Pharmaceutical, which in turn is the U.S. developer of KRN23) held a workshop on "Incorporating the Patient Perspective in Rare Disease Drug Development." You can see an overview and find a link to a proposed framework for incorporating the patient's voice into drug development here: http://everylifefoundation.org/annual-rare-disease-scientific-workshop-7/
The National Health Council (an umbrella organization that works to be the voice of "more than 133 million Americans [who] live with a chronic disease or disability") recently released a white paper at an event, in collaboration with Global Genes and a variety of other important stakeholders, on "Advancing Meaningful Patient Engagement in Research, Development and Review of Drugs." You can read it, and gain a better understanding of how much work still needs to be done before patients' voices can be heard, here: http://www.nationalhealthcouncil.org/sites/default/files/PatientEngagement-WhitePaper.pdf
And most recently, Network president Becky Mock attended the annual Patient Advocacy Summit hosted by Global Genes. You can see from the agenda (available here: https://globalgenes.org/wp-content/uploads/2015/06/SummitAgenda_Livestream.docx.pdf ) that Patient Engagement was, either directly or indirectly, a key element in all of the topics discussed. If you're interested in seeing just how big a challenge patient support groups face, the speech by Pat Furlong, founder of Parent Project, Muscular Dystrophy is both inspiring and educational (and it will probably make you cry too). That video should be available soon, and we'll post the link when it is.
There's a lot of work to do, and the Network Board is diligently gathering information and making plans to move forward. The rules and procedures aren't really in place yet for effective patient engagement, but the Board will be monitoring the situation, educating ourselves on methodologies/guidelines for reducing anecdotes to usable data, and preparing for the right moment to take the next step, once the procedures are in place.
What you can do: 1) educate yourself by reading the information in the links we've provided; 2) participate in credible research studies that seek patient input, like the Burden of Illness survey (https://www.amihealthy.com/custom/ultragenyx/burdenofillness/burdenofillnesshome.aspx?SITE=XLHNETWORK ), and 3) consider making a donation to the Network (http://xlhnetwork.org/index.php/donate/ ), so we'll have the funds, once the rules and procedures and methodologies are in place to contract our own patient preference research. (And if you can't afford to make a direct donation, consider enrolling in a program like Amazon Smile, https://smile.amazon.com/about , which won't cost you anything, but will benefit the Network whenever you buy things you'd be buying anyway.)