The Least Wonderful Time of the Year.

Holiday traveling can be a hassle for any of us. With a special needs child in a wheelchair you're likely to increase the chances of something not working out.

(Some info you'll need at the start: My son Lucas can't speak and requires a wheelchair. In this tale he is 5 and his brother Alex is not yet 3.)

In 2013 we decided to end our year on a note of wonder. A trip to the happiest place on Earth. But it turns out you can’t spell wonder without woe. Not since the Brady Bunch touched the totem in Hawaii has a vacation been so cursed.

12/23 About to go out to lunch, we see our van is lowered to the kneel position (used for the wheelchair ramp). It won’t start. If we’re lucky, it’s just that the battery is drained. Immediately we start thinking: no one will fix this for us on Christmas Eve or Christmas Day, we’ll have to cancel the Disney trip. A jump start might be the fix but with a single lane driveway…My wife Tina shoveled the lawn so I could pull the second car up close enough to jump it. After a few tries it worked. Then I ran over a squirrel.

12/24 Not a creature was stirring but we smell something rotten we can’t identify as we go to bed.

12/25 I wake Alex. He is sleeping along side a puddle of vomit. Unfazed (bless him), he says “Daddy, can you get in bed and cuddle me?” No, sweet boy, I can’t. But I’ll clean you up. Merry Christmas.

Next we notice the kitchen sink is leaking. We have a very full day of Christmas before us; no time to fix it. We just shut the water off and it’ll be a problem to face on our return from Florida.

12/26 First night on the road, Mexican for dinner. I can’t believe how fitful Tina’s sleep is. I discover the next morning she kept running to the bathroom having picked up Alex’ stomach bug. And with the four of us sharing the room she was trying hard not to wake any one.

12/27 Was mostly mishap free but Tina spent the entire day of traveling south curled in several uncomfortable positions in the passenger seat trying to recover.

12/29 Rain on one of our Disney days. We decide to put the Magic Kingdom off a day. We leave my Aunt and Uncle’s Florida home for the short two hour drive to Orlando. All my relatives also leave the house for the day. We get 45 minutes south and discover we forgot the power adapter used on Lukey’s food pump. Radio Shack is only 3 miles away. Closed. It’s a Sunday. GPS finds me two medical supply companies with in an hour. Closed on Sundays. Fortunately my cousin Maureen was willing and able to get into the house and meet us half way with the adapter, saving us a lot of back track travel time.

So what was planned as lunch at the T-Rex cafe, became a 3pm arrival and a one hour wait for a table and it’s pouring rain. Once seated all was well, but I might mention Tina, not I, ordered the massive desert called Chocolate Extinction because its dry ice volcano looked so cool when the table next to us ordered it. The smoking centerpiece comes surrounded by four wedges of chocolate peanut butter cake interspersed among mini ice cream sundaes with Butterfingers crumbled over everything. The table next to us is a party of 10. We number 2 adults and Alex. Luke of course won’t help us eat this.

12/30 At last Magic Kingdom Day. No rain but maybe a bit chilly at 8 am. I assure my family; shorts and short sleeves are fine since the day’s temp will be a perfect 72. At breakfast I realize it’s my turn with the stomach bug. But I can’t scuttle the Magic Kingdom plan. I soldier on. I take a small comfort knowing certain bathrooms in the park are new construction. The only ride I take Alex on is the flying Dumbo. Other riders merrily pilot through dips and dives and climbs. We maintain an uniform cruising altitude and I maintained my breakfast, for a while.

The day is taking its time reaching that 72 degree mark. So I’ve got some minor shivers to fend off. Tina was wise enough to wear a light jacket and both boys have blankets we wrap around them in their strollers. I’m feeling weak in the knees. I suggest Tina and Alex go on a ride while Luke and I sit in a theater to watch PhilharMagic. I’ll be warmer, I’ll be seated. We catch a break on the line and with almost no waiting we reach the entrance… and then the rope comes down. We’ll be the first for the next showing. The line grows quickly longer behind us. And I start to feel I can’t stand. But there’s no way forward and if you have a wheelchair it’s tough to thread your way back out against the tide of the queue. Eventually I allow myself to slump to the floor for a break. Not long after, the irrepressible wave of nausea hits. I lurch to the side. My glasses fly off. My left hand covers my mouth, my right braces my face just inches from the carefully themed Disney carpet and out comes far more liquified Egg McMuffin than my unfinished breakfast should warrant. I’m all but paralyzed into the seized-in-the-center sort-of fetal position. I can barely see. But I hear people. Like warbling echoes in movie recollection scenes. “Oh. Ew! Oh my god! Ahrg!” And an old lady: “Aaaah. He has a baby! And he’s throwing up on the baby!” There were also some offers of help and advice and call for the staffer and a call for First Aid but I couldn’t move yet nor communicate. “Are you here with anyone?” “Aren’t you here with anyone else?” I managed to groan “They’re on…another…ride.” Eventually a helpful guy gave me water and baby wipes. My T-shirt was a loss. My glasses needed a major cleaning. But the old lady (I never saw her) had other priorities “At least clean up the baby.” I was. “At least wipe his arms.” I did. “Oh wipe his face.” I did. To be clear poor little Luke only took a bit of collateral splatter. Eventually a different Disney cast member arrived to be my escort to first aid and whisked us through those “employees only” doors and behind-the-scenes un-themed industrial passageways. But our route to first aid had to intersect the parade. We were ushered down the roped-off lanes “for emergency use only”. Hard to imagine I was the type of emergency they had in mind. My guide offered to push Luke’s chair for me. “No, I need to lean on him,” I answered truthfully. We waited for a break in the parade that would allow us to cross its path. I thought at least Lucas has a front row seat for some of the parade. Before long we dashed out in front of Chip and Dale to the other side and reached first aid. My guide left us in the care of the nurse.

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She was very sympathetic when she assumed the patient must be the beautiful disabled boy in the wheelchair. Her sympathy fell several notches for the adult, white, male who vomited on Disney carpet. I spent from noon to 4pm on one of their patient beds shivering, shaking and yep vomiting. Lucas sat alongside me, being a great sport. I’m ashamed to admit I stole his blanket. After a few text messages Tina and Alex found us and brought me a newly purchased long sleeve Disney 2014 shirt.

They checked on me a few times. The nurse did too but mostly to say things like: “You can stay here for now, but if we get busy I’ll need the bed.” And they did get busy. By noon the park had seemed as crowded as I have ever seen it. Next I overheard the nurses saying at 1pm they had to stop admitting any more guests. The park had reached capacity. But the first aid unit had not. I counted 4 beds out of of ten were full. And yet my not quite friendly reminders continued hourly: “We might need the bed and you’ll have to leave.”

Tina and Alex went on a couple more rides, waiting for me to feel strong enough to exit the park and reach our car. I’m told during those four hours the sun came out, the temp reached 72 and it was a perfect day.

12/31 Sick or not, we have a schedule to keep so Tina drives from Orlando to Charlotte. On the way it becomes clear that Lucas is now suffering from the stomach bug. Poor guy is mostly incapable of vomiting so it’s all a lower GI tract issue for him. His diaper begins to fill and the van begins to fill with an aroma that makes us glad the outdoor temperature is still warm enough to open the windows. As ever Luke puts a brave face on his ails.

My uncle’s driveway is pretty steep. We pull the van in and SCRAPE! Probably not a big deal right? But why won’t the ramp deploy? Wait is the van in kneel now? Can we get it to go back up? After several tries, yes. But we give up on the ramp and load Luke out manually. Ugg. We’re suddenly thinking “No one can fix this van on New Year’s Day.”

1/1 Other than some more minor scares with how the ramp did and did not work, we spent a day driving with out much mishap. Then we checked into a hotel and Alex played with the phone. Tina promptly disconnected it so he could do no harm. Too late. A knock at the door seemed odd. It’s a police man. “Did someone call 911 from this room? We have to check.”

We apologized for Alex.

1/2 What’s that? a major blizzard is blowing across Pennsylvania, New Jersey and New York? Why that’s just where we’ll be driving today. But we started early and beat the worst of it home.

And discovered my dad had been in the house to fix our leaky sink.

Happy New Year!

Hope is a thing with talons.

Hope is a thing with talons.

I have a tough relationship with the word hope. It's practically an anthem in the community of those facing rare.   For many of us it can be almost a shibboleth. The way we speak of it signals not just our shared values but our membership in the tribe.

But it's a four letter word. So is love and so is fuck. From love can spring hope but sometimes equally true from hope can spring thoughts of “you're fucked”. Hope is essential and unavoidable when you face a dire diagnosis, and in my case, the fact that my son will die young. Essential because without hope, it's opposites will reign, on come despair, dejection, desperation and depression like some more stealthy horsemen of a personal apocalypse.

One of my issues with hope is that it is future-facing. Things are not good now but soon or on some distant day they will be. Regardless of whether this proves true with time, for me in undermines the possible joys of the present. Admittedly it isn't always easy to find those joys, but on the best of days I do. To live solely in the realm of hope would remove me from the here and now where my son can be the best guide through a difficult journey. He lights our path with the Kleig lights shining from his eyes, turning darkest night into a bright day. On my best days I can say “Save the hope for the future, I want to live this precious moment of right now with my boy”.

Another concern I have with hope is: hope for what? For a cure? Certainly. But the cure will not likely benefit my son. It might halt the degeneration he faces but it is nearly impossible it can reverse any damage done so far. And suppose some breakthrough like gene editing restores the normal function of hi ATP7A gene and we see he not only pull out of decline into a plateau but maybe begin to make developmental gains. What is that life like for him. Is it better? I write this on my son's 9th birthday. He's happy but in most regards he functions at the level of a 4-6 month old. If he were genetically re-engineered to process copper correctly, would he make strides toward greater capabilities? Would he begin the climb to the skills of 11 month olds, then 18-month-olds. How far could he go? Could he ever catch up so that at age 12 he has the health and functions of typical 12-year-olds. That still seems like science fiction to me, and yet I realize the science fact of techniques like Cripr Cas9 gene editing would have seemed the pinnacle of science fiction's optimism just a few short years ago.

But is that my hope, to have my boy cured and develop into age-typical skills? I don't think I hope for that. It's hard to imagine that boy as the one I know and love.

So I certainly do hope for (and where possible work for) a cure but almost entirely for the next generation of boys. That seems to me a more worthwhile hope. A cure can spare 2 in 250,000 parents this devastating journey.

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Emily Dickinson told us that hope was a thing with feathers. I won't disagree. But most feathered things also have talons. I find myself just as likely to feel their pointed pinch as to feel bourn aloft to heights of optimism. Yes hope, you can carry me up to enjoy your bird's eye view. From there it might be possible to see a brighter horizon, but as you soar your talons dig deeper into my already thin skin.

Another Emily, Emily Rapp, in her “Still Point of the Turning World” describes the mothers of children with rare terminal diseases not as Tiger Moms but Dragon Moms. I felt the deep truth of this concept even as I immediately re-mapped it to include dads not just moms. And dragons may not have feathers but we generally assume they have talons. Seen in this light the talons of hope can be as much a tool ( a weapon really) as the promise of flight offered by feathers. Rare parents lit afire by hope can often lash out with ferocity. Like any tool this can serve good or ill but it's a power I've witnessed and marveled at. Our hope is not merely going to carry us on its wings away from suffering or danger or to a better perspective it is also going to allow us to shred the things that stand in our way. This hope with talons equips us for both flight and fight.

I know for many they have something stronger and more comforting than hope. They have faith. I don't begrudge them that. In fact there are times I envy that. My faith doesn't quite work like that. Critics would say that shows my faith isn't strong enough. This is likely true. Faith can seem to me like super-charged hope. At it's best unassailable hope but at it's worst magical thinking. My grandfather's faith led him to often say of my son “I'm still waiting for that miracle”. To this my deeply faithful mother would always reply “We already have the miracle. Lucas is the miracle. His joy is our greatest gift.” She's right and I credit her with reminding not just her father but her son of this.

And the problems with faith can be nearly identical to those of hope. What are we faithful (or hopeful ) will happen? Again pat answers will be “a cure”. Those with faith I can admire the most tend to have answers that are more open like “the best outcome.” I admire the inherent admission that we mortals can't always presume to know the best outcome. And if this kind of faith leaves the believer not resigned to but let's say more accepting of unwanted or unforeseeable futures then it has done a good service.

But if faith is your only recourse it can potentially be worse than hope. If it is blind faith and faith alone it can lead to inaction. The best outcome will ensue it is pre-ordained and so nothing can be or need be done. That's not an attitude I've been able to adopt. Hope for all it's flaws, often spurs great actions that might move us toward the best outcomes.

In many ways the best thing I can hope for I already have – a life of joy with my son.

 

 

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).