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

Monday, 8 August 2016

Patient Centred Care - It Begins with Respect

Patient Experience. Empathy. Patient Engagement. Patient Inclusion. Shared Decision Making.

I hear a lot of buzzwords. And a lot of the time, that’s all they are – buzzwords. I’ll tell you what I want, not as a ‘e-patient’ or a ‘patient advocate’, but just as a mom. I want my 14 year old son to leave his 2 hour appointment with his new doctor excited about the care he’s receiving. And that rarely happens. But last week it did. Why? What was different?

In the words of Inigo Montoya from ‘The Princess Bride’ “Let me 'splain…No, there is too much. Let me sum up…”

Our names were respected:  

Right from first handshake, he respected our names. He checked with my son, his patient, how he likes being referred to and made sure to use that name. Amazingly, I was not ‘mom’! I was Ms. Jordan. I had a name – like a respected colleague. Even our family members that weren't there – he took the time to find out their names, to ask the spelling, to check in to make sure that the had it correct. It seems such a minor point, but if you were going into a collaborative business meeting, wouldn’t you make sure that you had the names of your partners right? Would you go into a project with someone who couldn’t be bothered to figure out which was your first name or last name? Names matter. Manners matter.

Our emotional needs were respected:

In recognition that this was to be a long appointment, this new doctor told us exactly what the agenda of the appointment would be. Of course he knew, but respecting our needs as partners meant bringing us in the loop so that we could have a say. And then giving us (giving my son) the power to change locations/moving/pausing if the appointment became too long. Of course, as with most people, knowing what was coming next made it easier to tolerate a long meeting and we were fine with the long appointment time.

Our physical bodies were respected:

Recognizing that the clinic is truly the health care provider’s domain is important. And inviting the patient into it and making us feel comfortable there isn’t something I’ve ever really thought about before. But at this appointment, this doctor said, “I’m comfortable, but others find it cold here. We can move to another room if it is too chilly here. That is no problem”. I don’t think I’ve ever been asked anything like that at other appointments. Furthermore, before examining my son, there was always a pause, an explanation, and a request for permission. Such a small touch, but an indication of respect and partnership and caring.

Our stories were respected:

So at the beginning of the appointment I did what I always do. I shuffled my papers. I organized my files and I got ready to be as efficient as possible, because I have been taught to respect the doctors’ time. Amazingly, this is the response I got (paraphrased) ‘I love data, but before I look at that, I want to hear your stories. [looking at my son] Your story. [looking at me] And your story. And then when you hear my story too, perhaps together we can reach some answers. Not because any of us are telling the truth or a lie, but because each of us has a different perspective.’ I’m sorry, but has this fellow come to see my talks or something? Seriously, he was preaching to the choir! My son and I may have shared a significant look at this point.

In brief, we were treated as partners in my son’s care; as respected equals, as colleagues. I don’t understand why this is both difficult and rare. I didn’t get the sense we were treated this way because we were special patients. I believe this is simply how this doctor treats his patients. To put icing on this already truly fabulous cake, the doctor asked us if we’d like to stay in contact by email so that we can see how a course of treatment is going and course-correct if necessary. Imagine. I am immensely grateful to this doctor for this experience. It reminded me of what is possible. We are fortunate because we have several healthcare providers that are doing so many things right. But this appointment, this day, distilled each of those things into one, single appointment. It made me see how important it is to feel respected in all of our interactions with the health care system. It is something we should expect, not be surprised by.

Respect. Being treated with manners and grace. This is simply how I expect my children to treat others. Isn’t this how we should expect health care providers to treat us as well?  

Sunday, 22 May 2016

And in the end strength and joy will win

You were supposed to be the easy one - my typical child, running around with your friends, the world your oyster, the usual bumps and bruises of childhood. Sure there were those scares of your toddler and pre-school years, but we got past them and decided to forget them.

But suddenly things changed as the world has suddenly become not your oyster. As you're growing farther from the protected circle of friends who built you up and let you know that your dreams are your reality and you just have to work hard to see them happen. Suddenly the world opens and the monsters of doubters who don't bother knowing you but just see your external shell tell you that you're not good enough that you have to be different, that just for skin that you inhabit you have limits that are not of your own making.

And we have to patch those wounds and remind you that your dreams are your reality and those who use words to put you down and try to wound you are shadows that pass and you are the solid one who inhabits your life.

You were supposed to be the easy one but I forgot how hard it was to grow up and that things didn't magically get better and the lessons that I learned can be shared with hugs and with love and with words of power and strength. And that nothing worth getting is gotten easily and no, not everything is easy but you are strong and beautiful and joyful.

And in the end that joy and strength will win.

Saturday, 30 April 2016

A Wish Fulfilled

It was the most perfect of days - sunny, a light ocean breeze and smooth sailing ahead. A lot had to come together to make the day happen, and it was perfect that the weather cooperated to put the finishing touches on the day.

Making Zach's Wish come true wasn't a sure thing. We didn't know until a relatively short while ago that as kid with no diagnosis, he was even eligible for such a thing. We were so used to falling between the cracks in the system that it would never had occurred to us that Zach could have a Wish granted. However, not too long ago, The Children's Wish Foundation contacted the Rare Disease Foundation to let us know that they had changed their eligibility requirements. More children in our rare disease community were now eligible to be nominated for wishes. This news was greeted with great excitement by my friends and we cheered when one, and then more of our kids were approved for wishes.

We were honoured, but tried not to get too excited when a dear friend in our community nominated our 14 year old for a wish. Having no diagnosis and no clear prognosis meant that getting approved wasn't certain, and we didn't want to make any assumptions. We were beyond thrilled when Zach was approved to get his Wish fulfilled. It has been a really tough year and thinking of what to wish for was exactly what he needed.

The rest of the family tried not to lobby him too hard for what we wanted. And even if we did, have you ever tried telling a 14 year old what to do? In the end, Zach's Wish wasn't surprising. He's wanted to be a marine biologist since he was about eight or nine years old (before that, he wanted to be a 'scientist of everything').  Zach decided he'd like to go on a marine biology adventure. And not just any old marine biology adventure. I had been following a marine biologist on Twitter, David Shiffman (@WhySharksMatter), for over a year and sharing what I read with Zach and his 11 year old sister, Evie. The kids were hooked - stories of working towards conserving endangered sharks by catching, tagging and doing the coolest of science? What's not to love? Zach wanted to go tag sharks with David. I'll say this for Zach - he doesn't think small. Would Children's Wish Foundation be able to set that up? Would David Shiffman be available? Twitter had informed me that he was finishing up his PhD - he had to be a pretty busy guy.

Unbelievably, it all came together. Children's Wish Foundation is a spectacular organization that took care of us so well. They arranged everything to make our trip go smoothly and make sure Zach's physical needs were taken care of so that he could really enjoy his Wish. Amazingly, some of our family that lives in Florida and Alabama were able to meet us there for a little family reunion. David generously gave of his time and met with us for dinner before our official Wish adventure. Honestly, the kids were star struck. And to put the icing on the cake, there was room on the boat to invite our family along to do some shark science with us on Wish day. The only thing better than getting a Wish fulfilled, is getting a Wish fulfilled with family.

And that brings us to our perfect day.

We were team 1: My family (myself, my husband Tyler, our daughter Evie, and the man of the hour, Zach), my mom (Meema), my brother, José and his daughter Katelyn.

Pics by Jeff Palumbo -

We were told what our jobs were, how to be safe and what rules to follow. We needed to figure out which job each of us would do. I know I was feeling excited and nervous and happy. Would we catch any sharks? Would we be helpful? Would I screw up? Would I ruin the Science? We divided ourselves up into the jobs that we were allotted and waited for our chance to jump into the well oiled machine we intended to be. And hoped not to Keystone Cop our way through it!

We waited, hoping that at least one shark would be caught... because, you never know, you can't control nature.

When the first shark was caught, we sprang into action. It was a nurse shark! She was beautiful! We all did our jobs and I don't think we messed anything up. They coached us all through what we needed to do and this beautiful animal was released back into the ocean with minimal fuss. As she swam away, Zach threw his arms in the air and shouted "Wish Fulfilled!"

Pics by Jeff Palumbo -
A note from Zach: It meant a lot to me that Children's Wish & the SRC were able to do this for me.

Unbelievably, through the course of the day 5 different species of sharks were caught, 9 sharks in total. We knew something special was going on when the biologists on board were excited!

Pics by Jeff Palumbo -
A note from Evie: When I saw the first shark, it was like it was the day was done, I was so happy.
And then we saw so many more! 😃

Our family was thrilled to be part of the action and to be allowed to actually participate in the data collection activities. The best part was the intellectual and social generosity of the graduate and undergraduate students there, as well as the crew on the boat. No question was ignored and no inquiry was regarded as a waste of time. My young scientists' curiosity was rewarded with respect and enthusiasm. I can't say enough about what amazing role models the SRC team were to our kids. Their enthusiasm for their work and respect for each other and what I hope my kids have, whatever they choose to do in their lives. I'm grateful that Zach chose a Wish that had such an impact, not only on him, but on his sister and his cousin as well.

We don't know what the future will hold. Honestly, who really does? But this trip let our family do what we enjoy most together and what has become increasingly difficult lately. We had an adventure. We were outside together, experiencing something that was totally new to all of us and learning together. We had the joy of discovery and had it as a family. Zach's Wish to take part in shark science research was a welcome break from a daily focus on healthcare management. It was an injection of fun and curiosity and excitement that I think my kids deserved.

We are incredibly grateful to the Children's Wish Foundation, and especially to our Wish Coordinators, Lindsay and Karin. We are grateful to our Rare Disease Foundation family for thinking of us and nominating us. We are also so grateful to David Shiffman for being available for questions and interaction, especially at such a busy time in his life. We were so lucky to meet the amazing scientists from the SRC lab on our boat trip; Leila, Julia (go Canada!), Natasha (viva Brasil!), Emily, Jake, Tim, Kevin and Jeff. And of course, the amazing Captain Eric and first mate Nick who took care of us on the water.

We were told from the beginning, that there was a chance they might not catch any sharks. It doesn't happen often, but it can happen - people can't control nature. We were unbelievably lucky on our Wish day with the number and variety of sharks caught. But what really made the day were the people, all the people, that came together to see Zach's "Wish Fulfilled", thank you all.

Pics by Jeff Palumbo -

Thursday, 31 March 2016

A Personal Orchestra - beautiful music or discordant noise?

I stand in front of a virtual orchestra. My musicians are doctors, nurses, occupational therapists, paediatric dentists, physiotherapists, office assistants, booking clerks, and health technicians.  The orchestra has also included Speech and Language Pathologists, a variety of specialty teachers, classroom teachers, Infant Development specialists, and researchers. Each section of my orchestra has had turnover, with new members replacing old, new kinds of specialists coming in and leaving, but always an echo of their presence remains.

In the meantime, I am meant to conduct these musicians. Their instruments are their tests, their knowledge, their hands, their work. The scores they play from are their reports, the test result placed in front of them. Each of them are sitting there, on their own, quite often sublimely unaware that they are but a small part of a greater musical endeavour. I try to weave meaning and music from their parts into the greater whole that is my son’s life – taking what I can from each appointment, meeting, therapy, and class. I interpret what I learn in one area and adapt, explain as I move on to the next musician. Always hoping that I can communicate for them. Always hoping that as a conduit I’m doing enough.

Wonderfully, amazingly, some try to hear the music coming from their neighbours to make sense of it together. Others just keep playing as if they are soloists, a Diva come to the concert to play at centre stage.

And there I am, madly waving my arms, my virtual baton whirling, whirling, trying to pull the pieces together. Conducting them as if they are my orchestra, yet their music, the scores from which they read are often a mystery to me. I ask them to share with me and some do happily, willingly: Others begrudgingly and some, not at all.

And still my baton twirls, and whirls, because there isn’t anyone else to try to make this orchestra work. And my son deserves that we find a way to make some beautiful music out of this cacophony of sound. 

Pulling this orchestra together is my job. But it could be made so much easier if information sharing was facilitated through an accessible health record. A common musical score, if you will. If there was a shared recognition that a patient with complex medical needs lives a complicated life – and scheduling that life requires respect and empathy. For the sake of argument, the recognition that everyone is a part of a larger team (or orchestra) that involves those in and out of the health care environment. Finally, I know that no-one will ever advocate for our son as much as much as my husband and I do, but the expectation that we are the sole information conduit through the health care system is ridiculous. This should not be how we optimise health care for those most vulnerable and compromised.

We can make better music than this.