We beat on, boats against the current.

“So we beat on, boats against the current, borne back ceaselessly into the past.”

I've been thinking how much this line from “The Great Gatsby” applies to a rare disease journey. My wife is a high school English teacher and we end up quoting this line more often than most people would believe. Often it feels apropos of nothing, but just as often we're probably giving voice to a fundamental weariness. And I'll concede at the start that Fitzgerald's line is meant to and succeeds in applying to all human beings' struggles (or at least all Americans) so it shouldn't be news that it also applies to a specific subpopulation facing rare disease. It wouldn't be considered the great American novel if huge numbers of people hadn't felt it spoke a truth of their experience.
But it is a truth that we rare families beat on against the current. The current that says your child is not strong enough to go the places other children go. The current that buffets us with more trips to the ER. The cascade of challenges with tube feeding, diapering, medicating, catheters, adaptive communications equipment, wheelchairs and ramps. The waves of fear that confuse our unchartable course.

We go against the current not because we have a clear course ahead but because giving into it takes us nowhere we want to be.

But we are borne back. That word “borne”. A heavy burden to shoulder. Of course our situation can be burdensome. We bear it for our children. And they bear a heavier burden than the parents, at least physically.

And just the sound of “borne”: born, reminds us of how this struggle started. The birth of our child. The expectations we had while expecting. How different our path has been compared to what we thought it might be. The most hopeful (if vague) advice I received at the time of our son's diagnosis was from our minister. She had a special-needs granddaughter. “It changes the journey.” I am constantly reminded of this truth. And unexpectedly comforted by it. The journey is not going as I expected. But whose does? Those expectations are things of the past. Like Gatsby my imagined and hoped for future is not what fate doled out since the birth of my son. The journey has changed.

Borne back to setbacks. A degenerative disorder is all about setbacks, regressions. The tide is against us. Our best efforts may pull us forward briefly but the longer view shows our child regressing.

Ceaselessly. The tide is unceasing but so are we. We are tenacious and persistent because there is no choice to be otherwise. What could we do instead of struggle? Let our child suffer? Let them get less than the best care? We keep our focus forward.

What light are we fixing our gaze upon? In my own case in my best moments it's the light in my son's smiling, sparkling eyes. Focused on his happiness I can forget the struggle of the future for a time and live for the joy of the present moment. We named him Lucas not knowing the name can translate to bringer of the light. We also didn't know his copper deficiency would produce the most incredible ice blue eyes that sparkle with a light that buoys and sustains us. But I think most often for most of us the light is more distant, like Gatsby's. It beckons us. It's the light of hope. And hope is future-facing. Ever forward. The hope of a new treatment or cure. If we force ourselves toward the future, gene therapy or some bio breakthrough might change our course. Like Gatsby we are optimistic, perhaps unadvisedly optimistic.

Unlike Gatsby we might make it across the troubled waters to reach our hope.

Unbabbeling our rare voices.

I was thinking about the Biblical story of the Tower of Babel after it was mentioned in a Freakonomics podcast. If you remember the story, we humans working together as one with one voice had just reached our greatest height, literally. The highest tower, the most awe-inspiring achievement. And then we humans were afflicted with differences – the inability to understand and communicate with each other. Since those ancient times, the story suggests, humans have never again been able to work as well as one united population to achieve great things.

Guess where I'm going with this. We in the rare space can get super-focused on one area of interest. Business culture jargon calls them silos. A tall vertical tower that helps keep us on task but can prevent us from paying attention to efforts around us that might also be relevant to our goals.

Many of us on the patient advocacy side can be critical of the industry or research side getting trapped in their silos. It can go like this: “Why is company ABC only working on disease XYZ when my disease is so similar, and my need is just as dire?”

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But we should turn that same critique back on ourselves as advocates. Are we working in (important, necessary) advocacy silos and sometimes forgetting to look outside them?

I'm not saying our silos are bad. They exist for a reason, chiefly: specialized problems require specialists to solve them. And if you advocate for a rare disease your first duty is to advancing treatment for that one disease. But I hope we can take the occasional peek outside of our silos to check in on the efforts of others around us. If you're a rare advocate of course you focus primarily or maybe exclusively on the disease that touched your life and drove you to advocate. For me that's Menkes Disease which will take my son's life one day. As much as I might talk about “rare” in the 7,000 disorders sense or 30 million people sense, any conversation with me that digs deeper tends to end up in my silo with me mentioning the need for copper transporter research or the ATP7A gene.

So all of this is to say, could we the advocates try to speak with one voice? Can we add the shared language of all rare into the mix of our existing, more disease-specific efforts? It seems to me that is the strategy that helps us reach great heights.

And if you think I've tortured this Tower of Babel metaphor too much, guess how many languages we humans ended up with – 7,000.

7,000.

And we have 7,000 rare diseases to advocate for. We've all heard this before but: alone we are rare, together we are powerful. We are 30 million Americans and nearly a third of a billion of us globally. Let's try not to babble. As best we can, let's try to raise one voice and reach great heights.

7000 Films Wanted

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Impact. 

If Daniel and I had to define our mission in one word, that would be it. 

At the film festival, we figured we could have the biggest impact by creating an event that would attract rare-disease patients, filmmakers, advocates, and industry--an atmosphere ripe for collaborations

And it worked. Just ask Janis Creedon and Dekel Gelbman.

But when the festival was over, we found ourselves looking for more ways to have an impact. To get more people talking about rare diseases. To make researchers take notice of the opportunities. And to spur even more collaborations.  

Daniel observed in his remarks at the festival that there are 7,000 rare diseases, exactly the same number of languages we split into in the Tower of Babel story, and that's no coincidence. Film is the one language that unites all of the patient groups. We want there to be a film for every rare disease.

That's why we're starting a new project. 

It's called 7000 FILMS WANTED

If you're dealing with a rare disease, and you already know that there isn't a film about that disease yet, we want to help you. 

To get started, click here.
 

The by-products of D:RDFF 2017: a SMA collaboration.

When Bo and I started this film festival, we asked ourselves why it was needed, and why it would be a better option than sharing rare films online or some other strategy. We agreed it would be not about just presenting the films to a larger audience but cultivating the best audience. We wanted to get the right people in the same room. We imagined this as mix of patient advocates, filmmakers, doctors and industry. We wanted the stories in the films to prompt conversations and collaborations among them. And it worked.

Among the films we screened on our first day was “Love and Atrophy” by Gareth Burghes, addressing Spinal Muscular Atrophy. Gareth did a brief Q&A after his film. In the audience were Artemis Joukowsky and Cray Novick. They are also filmmakers and currently at work on a feature length documentary on SMA and the recent treatment breakthrough. After the three met and talked at our festival, they have teamed up to combine their efforts and work together on the new film.

In the video below you'll see some of those moments from our festival. It is a fundraising video for the KickStarter campaign to help fund their film. They have one week left to raise the rest of their films budget. Like most KickStarter campaign there are rewards for donating at various levels. If you're facing SMA in your family, the $100 level might be of interest since the filmmakers will create a video telling your SMA story with you.

Video

Link to the their KickStarter

Note: funds raised here do not go to D:RDFF.

 

 

The hardest question of the festival.

After each slate of our films screened we had filmmakers do a brief Q&A with the audience. It was after our second slate of films when the four filmmakers on our stage got the toughest question of the whole festival. For the first question of that session a woman was in tears and asked “How do you do it? How can you handle all this? I'm overwhelmed just watching the films for an hour. Is there counseling or mental health help available to you?”

Before I get to how the question was answered let me describe part of what makes it so difficult to answer. At most film festivals filmmakers doing Q&A will get questions on the art and craft of telling stories on film. How and why they made the creative decisions they did. We knew that our festival set up a different dynamic. Our filmmakers were much more likely to get asked about the content of their films, the science or the medical issues. And in many cases they might not be the best equipped to answer those questions. Some of them are more the messenger than the expert. Even those who are rather expert, perhaps due to living the experience, are not likely to be the talk-like-a-geneticist level of expert.

We tried to anticipate this a bit by having not just a filmmaker speak but when possible a leader from the related advocacy group too. Even so that first question threw the panel. I was off to the side and could see each of them hesitate a bit. It was more than the standard “would you like to take that one or should I?” hesitation. It was clear to me no one was very comfortable speaking to this on behalf of rare caregivers especially to an audience filled with so many rare caregivers.

So I took the question myself. My answer wasn't as direct or as helpful as the asker might have liked. I said:

There are some programs to be of help to families and caregivers. Support groups and some counseling. It can vary by state. But I can tell you – and I think most people here would agree-- we can't find the time to take advantage of those services. We're tredding water most days. If I could have an hour of counseling, that would be a vacation. I remember one time when my son was younger I went to the dentist. He was literally drilling my teeth for an hour and it was the most peaceful and relaxed I had been in months.

Not the most helpful answer, but a true answer.

Maybe if any of you have a more direct answer that offers specific programs that could be of help you could mention them in the comments.

 

 

 

FAQs

 

Can I see the films online?

Some of them yes and we've linked to them here:
https://www.rarediseasefilmfestival.com/selection2017

But others are not publicly online and our rights to them are for festival screenings only so we can't post them. A couple of them are available to buy a streaming copy and we've including that link in a note after the film's name. In other cases we link to just the trailer for the film and note that.

Will you do this again next year?

No not in 2018 (we need some sleep), but yes in 2019. Exact city and date are TBD.

Why don't you charge more for tickets?

We aren't trying to make money with this festival or even to fund raise with it. If you can contribute we can name a few dozen rare disease foundations who'd like your money. We wanted to ensure our event was not a burden to rare patient families. But we discovered an unintended consequence: with a low ticket cost people are more likely to skip the event even though they bought tickets. We're looking are better solutions for our year 2 event. We'll likely have a lower ticket cost for rare families and a slightly higher one for all others.

Why were there empty seats, I heard it was sold out?

It was disappointing for us to see empty seats. We assume a few people decided they couldn't attend after buying their tickets. (see answer above).