Friday, 10 November 2017

Open Access Science for Quality of Life and Partnership in Care

It's been a while since I've posted - too busy, too preoccupied, too everything. Happily, Jon Tennant (@Protohedgehog) alerted me to a neat contest the Open Access science people were having as part of OpenCon2017. The idea was to, in less than 750 words, describe what Open Access science means to you. Now, as a science enthusiast and a patient advocate and a parent of a #raredisease patient, I thought I might have something to contribute to the conversation. In any case, #OpenCon starts today, and I think it's well worth following. In the spirit of #OpenAccess here's my entry to the contest and what #OpenAccess means to me! So thanks to Jon, and to the Open Access community to giving me the kick in the butt I so desperately needed to get writing again! 

(BTW, want to see more reasons #OpenAccess is important to people? Of course you do.. check out the other entries at

My son Zach, now 16, is an n=1. Something I never thought could happen until he was four and a half and we sat at the medical genetics office and received his undiagnosis. The symptoms he had, the differences that marked him from his peers, the health concerns my husband & I were tracking, they all added up. Yes, he had a genetic disorder. No, it didn’t look like it fit into anything already characterized.

These words left us with no prognosis and no plan to move forward with his healthcare. His grab-bag menu of symptoms and health-care concerns that would wax and wane and turn into a variety of surprising crises would follow him for the next 12 years. All of them without the ability to make a plan. This is the reality of undiagnosis and rare disease – little prognosis, and reeling from one specialist to the next, only reacting (hopefully in time) as problems arise.

It’s not good enough. We grew a team around us, clinicians who do research and who were willing to partner with us, fellow patients who had similar concerns, people wise in the way of gathering information. We grew privileged in our connections. As much as I could, I delved into the world of research to find any clues that could inform the practice of Zach’s healthcare providers to try new and innovative therapies. Did I understand everything I read? No. Did I get better at it? Yes. Mostly, it sparked conversation with his providers. It provided new avenues of thought. It was a springboard.

This is how things stand now. My life is a beach, a rocky beach.

My life is a rocky beach

I spend my time tracking and graphing symptoms, medications and treatments, researching new doctors, connecting with new patient communities that might have insights I haven’t thought of, finding articles that may be relevant to Zach’s care or a possible diagnosis. Each of those clues is a stone on the beach and I can’t leave any of them unturned. Most of them will yield no answers, but I can’t risk missing one. The more time I waste doing any of those things, the less time I have for finding answers. I don’t have time to waste.

But at every turn, I run into walls. The Paywalls, to be exact. Those effing paywalls. For us paywalls aren’t just frustrating, they can be a block to a better therapy. A block to whether or not Zach can get out of the house, whether or not he experiences less pain, whether or not he receives better care. They are a personal affront to me. They are a time-waster as I work to find a way to get through them.

Now I recognize that I am enormously privileged because I have gathered an amazing community around me that I can quietly ask to grant me access. And they always generously help me. But I hate to go begging. And I recognize that one in 12 people will have a rare disease in their lifetime – a huge number of people. Most people won’t have easy access to friends with the ability to send them paywalled articles. Why should I have access while others don’t? Why should I access better treatment through current research while others in the rare disease community are shut out? Open Access helps to even the playing field and gives all of us more ability to partner with our health care providers for better care in the search for better treatments.

Some of my community were recently at a Child’s Brain Health conference that was put on in partnership with the research, clinician, and Parent community. I couldn’t be there, but followed intently on Twitter. @jackhourigan tweeted from @raeofsunshine79’s talk: “A worried mother does better research than the FBI.

A worried mother does better research than the FBI
Why Open Access? I’ll tell you why, because for many people with chronic illness and rare disease, it’s the only way we can equitably find out about better treatments and partner more effectively with our clinicians.

Can you see me?