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.

Thursday, 1 June 2017

Kindness shouldn't be blue sky thinking

Kindness shouldn't be blue sky thinking
"I don't have any help today". The technician looked annoyed. I wasn't sure she was talking to us, initially. Frankly, it was an odd thing to say out of the blue after calling us into the room. I looked around, to see if she could have been talking to someone else.

I must have looked at her with the obvious question on my face of 'what are you talking about? It was then she kind of looked down at my slightly nervous, ill, skinny 15yo, like he was annoying her. Down at his arm, where we had put some topical anesthetic and a clear bandage where he preferred to get his blood drawn, and suddenly I understood.

Oh no. Not today. I'm not having that today. I put on my biggest, friendliest smile - looked right in her eyes and said "I'm sorry, I don't think you shared your name with us today." She was not coming at my son with that attitude and a needle without at least introducing herself to him (and to me). I guess #HelloMyNameIs hasn't made it's way to the lab at my local hospital yet. She was taken aback for a moment (my name? I need to tell them my name?) and then introduced herself. Only then did I tell her that my son, who although is ill, and nervous, is an old pro.

Our family, more than most, knows about #ItDoesntHaveToHurt. After a lifetime of painful procedures our son spent literally years of his life working with a therapist and on his own overcoming needle phobia. And despite the fact that his underlying rare disease makes it so that the topical anesthetic does little to help him, he is the king coper. He is a pro. This is not his first, nor will it be his last day at the rodeo.

I didn't tell her any of that. But I'll tell you what I did want to say. That when faced with a clearly nervous, unwell young man, she chose to meet him with hostility instead of kindness. I don't know what was going on in her mind. It was the end of her day. Was she nervous? Do her employers give her the tools to help those with needle anxiety? Does she feel safe in the job she does? I don't know the answers to any of these questions. But I have to say, in the moment, I didn't give a good hot damn. She is a front-facing healthcare provider working with people of all ages and abilities. If she can't meet them with kindness, she'd better demand the tools to do so, or find something else to do. Because she's not coming near him with that attitude again.

A lot of health care interactions could be improved by the simple acts of exchanging pleasantries, manners, treating patients as human beings. I truly don't understand why this doesn't happen more. So many of our (meaning our son's) healthcare interactions have happened and continue to happen in blood labs and medical day units. His perceptions of what healthcare is, whether it's comfortable, friendly, frightening, or even mundane have been framed by these experiences. It's all well and good to talk about partnership with your primary care provider and specialists, but we need to get it right here too. How young patients feel about these interactions may determine how readily they seek medical care later. As my good friend Sue Robins always tells me, kindness always matters. She's right.

Sunday, 26 February 2017

Rare Disease Research – moving from Study Participant to Research Partner

On February 28th I'm honoured to be hosting a special Rare Disease Day #hcldrtweetchat. Two weeks ago Joe Babiain approached me to see if I would be interested in working something up with a rare disease focus coming up towards rare disease day. To be honest I was grateful for the opportunity for a couple of reasons. Looking back on these posts, it's obvious that there's been a bit of a hiatus on writing here. This was just the push I needed. With a Rare Disease Day theme of 'Research' this seems like the perfect time to talk about how patients, caregivers, health care providers, and researchers can create an environment of partnership to create change for the rare disease community. So, thank you, Joe. Thanks for the push and thanks for the opportunity to talk about my community, and to talk about my passion for partnership in both care and research. And I'm looking forward to the conversation on Tuesday February 28th on on #hcldr at 5:30PT (8:30ET) about patient partnership in research.

NB: I'd also I'd like to thank Joe for being a great editor and @couragesings for helping me find some great resources.

(The following was originally posted on the #hcldr blog)

It’s International Rare Disease Day on February 28th and by the beginning of February I start to reflect on what it means to me. It wasn’t so long ago, that frankly it didn’t mean anything at all to me. Rare and orphan diseases didn’t have any impact on my life, or at least I didn’t think they did or ever would. If I knew that a rare disease was defined as a disease that affected less that 1 in 2000 people, I certainly wouldn’t think it would have any relevance to me. However, taken all together, that means that rare diseases in total affect 1 in 12 people – and half of them are diagnosed when they’re children. And I wouldn’t realize that one of those 1 in 12 would come to be my son. I wouldn’t realize that the average time to diagnosis for rare disease patients is over 7 years and for most of these diagnoses there is noreal treatment.

All this applies for the 7000 or so named rare diseases. Then there are those like my family – those of us still searching for a diagnosis. We’re 15 years in. Multiple specialists in, reading study after study, communicating with researchers directly, and left with more questions than answers. We have piles of archived studies, ideas of where to go, but mostly we work in partnership with our health care providers, hoping that one day, somebody’s research bears fruit and an answer is found for our son.

This is the current state of affairs in 2017 for rare diseases. How do we move forward? For me there is only one answer. We can only move forward together. There is limited funding for research. There is a limited pool of donor resources for non-profits. There is a limited pool of study participants for research studies. There are limits everywhere. What if we could all help each other overcome the limits we have? What if we could amplify each other’s efforts by being more efficient with the resources we each have. Now wouldn’t that be something? It strikes me, we go further (and faster) together, than we do apart.

There are some incredible researchers out there doing great work on rare disease. But they can’t do it alone. There are health care providers seeing patients every day, with access to a pool of patients and information. And there are patients and communities, gathering information and resources, mobilizing to do good work. So, let’s bring them together, each to amplify the other’s voices and information. Balanced together, that’s how we get to the end goal.

With small study populations, tight competition for funding, and competitive donor pools, the smart money is on research that collaborates with patients and the rare disease community to get the work done. So the question is, how is that done an authentic way? What is everyone’s role? How do patients inform research? What lessons can we learn from failures? Are there resources on how to work with patients and communities? Is research all about the cures? Or is it about living well with #chronicillness and #raredisease? Who decides? And how? With PCORI in the US and SPOR in Canada, how can researchers and patient communities leverage resources to work together for better research impact?

Join the #hcldr community of professionals, patients, clinicians, administrators, lurkers, counselors, social workers, designers, and advocates! Please join us on Tuesday, Feb 28, 2017 at 8:30pm Eastern (for your local time click here) as we discuss the following topics:
  • T1: How do we start to overcome barriers to engage the patient/caregiver community as research partner? What is the role for digital communication? 
  • T2: Is there a danger of engaging the ‘same old voices’ or in other words, how do we ensure diversity of thought? 
  • T3: “Tear down that wall!” Barriers – there are barriers on all sides to patient inclusion. How do we address them and overcome them?
  • T4: How is rare disease a model that can lead healthcare into patient inclusion in research? Example?

Resources for Further Study

Links Mentioned in Bio:

Main Blog Links:

International Rare Disease Day
Pursuing Elusive Diagnoses for Rare Diseases 

EURORDIS Rare Diseases Europe

PCORI Patient-Centered Outcomes Research Institute

Strategy for Patient-Oriented Research

Additional Resources: 

CORD Canadian Organization for Rare Disorders

NORD National Organization for Rare Disorders

Rare Disease Report

How and why should we engage parents as co-researchers in health research? A scoping review

Can you see me?