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 - sharktagging.com

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 - sharktagging.com

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 - sharktagging.com
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 - sharktagging.com

On Gratitude..

I’ve been thinking a lot about gratitude and loss, loss and gratitude. So much of my life is defined by the rare disease that has wound its way into the every day conversation of our lives.

I wake in the morning and wonder if it will be a good day for Z. If today will be a day that he’s well enough and gets some things done on his tick list: things like seeing friends and going to school, riding his bike and eating dinner with family. It seems like so little to ask of a day. Or if today will be counting the moments for when he can balance the nausea against his hunger. When we hope that the headaches don’t come. When he misses his friends and we cancel our plans.

Whether things are going well or things are going poorly there are always the conversations wondering if it was this variable or that one that turned the tide. Could we repeat the pattern that worked? Is there a pattern that made it worse? Do we have any control over any of it? It’s all encompassing. It’s what I do. It has become who I am.

It is sometimes hard to feel gratitude in these times when I want what everyone else has – the normal days with the normal milestones – school, athletics, the everyday minutia of without the constant grind of uncertainty.

I try to remember the days before, when I had other things on my mind. Don’t get me wrong, of course I think of other things – friends, family, what’s for dinner, what’s going on at work – although now work is rare disease related as well. But the undercurrent is always the same. I have a background hum that sometimes is a shriek that can never go quiet; that is always there. And oddly enough, in that background hum, amazingly, I can find my gratitude.

Ridiculous. I know.

I’m looking at my kids right now as I write this. And I know that despite what this disease has given us, our family has received gifts from it. I don’t know what we’d be without it – I’ll never know that – but I do know that my kids value each other in a way that is different than would otherwise be. They bicker; they get on each other’s nerves – who doesn’t? But they see each other in a special light because of the stress that rare disease has imposed on our life. They are a unit in a way that typical siblings just aren’t. I see them out there, brother and sister, taking on the world. I know they have each other’s back.

Our little nuclear family has seen hard times and sometimes I honestly feel like the stuffing is knocked out of me. But my kids and my husband and my ridiculously cute and stupid dog remind me that laughter is the cornerstone of resilience and hope. And we’ve gotten through all of it so far; so likely we’ll get through the next bit too.

I’m stronger than I would have been because of this and I guess that’s a gift. It’s a gift I’d prefer not to get on my kids’ backs, but as long as they’re getting that same gift of resilience, I’ll take it as well.

Do I wish things were easier? Of course I do. Does my family spend a lot of time laughing in the despite the adversity? Often. Do I need to keep learning that lesson? Apparently. Gratitude and loss. This isn’t the life I imagined, but it is a beautiful one. I am so grateful for the beauty my family shows me. For the laughter they give me. The joy we have is so heightened sometimes I feel like I just almost can’t stand it.

Grant Reviewing: The Experience of a Parent

I recently had the privilege to attend the CanadianOrganization of Rare Disorder’s (CORD) 2015 Rare Disease Day Conference and to take part in a panel on Patient Leadership in Research.  

I thought hard about what I could bring to this research forum. Unlike the other panel members I don’t have a background in healthcare as either a provider or as a researcher. I don’t have peer-reviewed papers to legitimize my experience. I don’t have letters either in front of or behind my name.

So what do I bring to the research review process? How can parents & lay reviewers contribute the grant review process?

Instead of focussing on what I don’t have, let me start by telling you who I am.

I am a parent to two amazing children. By a quirk of genetic fate, my oldest has an undiagnosed, likely genetic, disease. My youngest is ‘typical’ (whatever that may mean), and spends an inordinate amount of time worrying about her older brother.

My son is 13 now, and we have spent most of his life searching for answers. We’ve seen innumerable specialists, experienced so many tests, he’s had so much chronic pain, on again off again, on again disability, a rare tumour, an impressive surgery, an ICU stay, and we still have no answers. Personally, our medical journey is still one of gathering data. Communicating with our healthcare providers and cobbling together management strategies that can maximize our son’s quality of life is our modus operandi. Some days are bad. This year, he’s missed 70% of his classes because of pain, nausea & fatigue. He has ambitions – plans to be a marine biologist and study the deep ocean. I live in fear that whatever he has, we won’t be able to help him realize those dreams. We often feel completely powerless and buffeted by forces we can’t understand and have no control over. This is not just our reality, but also the reality shared by most in the rare disease community.

 I am deeply entrenched in my rare disease community. I am a believer in and builder of networks, on and offline. I believe in the collective wisdom of families, patients, caregivers, doctors and allied health professionals. Furthermore, I fundamentally believe that within the intersections of those relationships and communications lays the wisdom that will bring patient care forward, individually and collectively.

My perspective comes not from a professional affiliation or education, but from our family’s, our community’s lived experience. This my education, my on the job learning.

But what does this bring to reviewing research grants?

I have been a parent/lay reviewer for the Rare DiseaseFoundation Microgrant Program since it’s inception. And while I’m a great believer in the program, it actually took me a while to fully understand the value that I, and others from the rare disease community, brought to the table.

It’s that word: perspective. And does the usual mode of reviewing grant proposals really have enough to get the full picture?

No matter how many times I saw this come across my facebook or twitter feed a couple of weeks ago I could not see this dress as the blue and black pictured on the right. I recognize that others genuinely saw it as black and blue. But to me, it remained white a gold. More interestingly, I would never had know that the dress could even be perceived as black & blue if no-one told me. I had no conception that the other perspective even existed. There’s nothing wrong with my perspective (or theirs), but without our conversations, we would have been completely unaware of the other’s.

I see rare disease research the same way. It is #thedress. Traditional ways of reviewing grant proposals have only had one perspective, that of scientific community. That perspective is not wrong. It is completely valid, but it is not the full picture. We are all both bound and lifted by our experiences but having more critical thinkers who understand our model and our goals will make the process more robust . Having more perspectives helps us make better decisions.

Adding the lived experience of families with rare disease to our reviewers ensures that research is funded that reflects the priorities of the rare disease community. Interestingly, I think that this will engage the community in being more involved with both the research process and with fundraising and advocating for research dollars. One group shouldn’t be dictating to the other what should happen, but rather all voices need to have equal standing.

This is a volunteer job that doesn’t necessarily come easily. It is work. It takes effort. It has been at times both time consuming and intimidating. It could have been seen as a burden on individuals who already have so much on their overfull plates? Why would we take on more?

Hope is hard to come by in the rare disease world. Cures are hard. Funding is hard. Days are hard.  When you get right down to it, I can only answer for myself. Twice a year, when I read these research proposals, when I see what people plan on doing with these small amounts of money for my rare disease community, I get a spark of Hope. Now I know that the vast majority of these projects won’t do anything for my family. But they will for another family. A family just like mine that lives deep down the shaft of uncertainty, and for them, one of these small research projects may be the beginning of a light at the end of the tunnel. And something that I do might help them see that light. Something I do. That is enough.

We are building something together here – a collaboration of scientists and health care providers and families, all of whom have an equal voice. As much as funding research, this is what I believe in – building this house we can all live in. Because making decisions together – this is what’s going to drive us toward the cures we need. 

Confessions of the journey undiagnosed

I have a confession to make, and it’s neither pretty nor complimentary to me. I am out of patience. I confess that on too many mornings I am done with the trying to figure out if my 13 year old is ill, or if he is just 13. I am ‘up to here’ with trying to be patient with a system that has no way of telling me if any of his doctors have ever spoken to one another about my son’s symptoms. I am done with trying to find out if they have even read each other’s reports. I am tired of trying to figure out what departments are overdue to be seen and who needs to be prodded and what reports aren’t in my binder of medical history.

I am done with tying my brain into knots trying to make connections between activity levels and symptoms, signal vs noise, data vs everyday occurrences in a life that is an ongoing science experiment where the outcome measure of success is less pain and better quality of life.

I am out of patience. I am tired of trying to figure it out. I am done with the mental gymnastics of juggling appointments and interpreting information between health care practitioners and school systems and government bureaus. I need a vacation from this life of constant background calculations of ‘if this, then that’.

I am out of patience with myself because there is no other option. I am the one to tie it together, to find the pattern, to find the signal within the noise, to pull the pieces together. I must be the bastion of calm, the repository of memory, of information, of puzzling the pieces together. That is my role. And I can not afford to lose patience.