The Rare Awareness film disguised as a superhero trilogy.

Regular readers of this blog might accuse me of finding a rare disease connection in every movie I watch. But that doesn't mean I'm wrong. Did you hear the one about the superhero trilogy that has a rare disease at its core and ends its three film plot arc with an effort to get an awareness video seen by the world? It started back in 2000 with M. Night Shyamalan's “Unbreakable”. The Elijah Price aka Mr. Glass character has the rare disease osteogenesis imperfecta, giving him fragile bones. His physical limitations lead him to focus on the powers of his mind instead.

In 2016 “Split” came out as a surprise sequel of sorts to “Unbreakable”. And this year we got the third film in the series “Glass”.

Spoilers ahead for all three films.

One of my favorite moments in “Glass” is a flashback to Elijah Price at around age nine. He wants to do want other kids get to do despite the limitation of his rare disease. He's clever enough to adapt the situation to his needs. So when he decides to ride a tilt-o-whirl called the Night Cyclone at a carnival, he comes prepared with two giant plush prize animals as cushioning for either side of his seat and his sweater gets wrapped around the handle bar to insulate it. He's brilliant but he's still nine so he's naive and over confident. His improvised accommodations fail him and he is badly hurt while his mother watches helplessly until the ride comes to a stop. That's fiction but it feels pretty true to a young rare patient and parent's experience.

The caregivers in “Glass”.

A related device, at least tonally, is the important role of a family member caregiver for each of the three exceptional characters. Mr. Glass has his mom. Bruce Willis's Overseer has his son. And Kevin Crumb has Casey. They advocate for their loved ones and work to ensure their care and safety. And they are with them at their deaths. Ultimately the success of Mr. Glass' plan is witnessed by the three of them sitting side by side, united in by this extremely rare connection.

Another motif through the three films is the power of touch. David Dunn can touch someone and see the evil inside them. Mr. Glass can not (or should not) be touched at all and this basically means he can't be saved. Casey Cooke's touch has the power to heal by bringing out the Horde's best self, it's true self: Kevin. I'd argue that Shyamalan takes a very medical approach to superheroes in this trilogy. His father is a neurologist and his mother is an OB/GYN. So it makes sense that the power of touch, both healing and damaging, occurred to him.

The theme of believing in one’s self in the first two films shifts to getting the owrld to believe in the third film.

When “Unbreakable” was released some critics bashed it for being only the origin story. A typical superhero film would wrap up the origin tale in act one. Even back then I admired the decision to focus almost entirely on the origin tale. Now having seen where the three films together take us I admire it more.

Near the end of “Glass” Elijah tells us that all of this (all three films) have only been the origin story. The earliest steps in a battle. And what is the first step in a rare disease battle? Awareness. Often an awareness video, that you hope will go viral and be seen around the world.

An awareness video to go viral.

Dr. Ellie Staple's job is to keep things together (get it staple?), to keep things normal. In her world there is no room to acknowledge or accommodate extra-ordinary people.

Mr. Glass' long game was to thwart those establishment powers and shatter (get it, glass?) the status quo that prefers no one know or care about people who are differently abled. Mr. Glass risks everything to turn a camera lens (more glass) on his abnormal peers and distribute an awareness video. A video that will ensure the world sees us, knows we exist and needs to accommodate us.

Did I say us? I mean super-powered people. Was that a delusion of grandeur?

“The broken are the more evolved.” - The Beast in “Split”

Trailer for Glass

The rare disease movie disguised as a sci-fi blockbuster.

Imagine a major Hollywood film where a woman learns her future will include having a baby girl with a rare disease and watching her suffer and die as a teenager. She sees all the events of her daughters' life clearly including the joys. She also sees that her husband will not handle this well and will leave her. Knowing all this she chooses not to change a thing. As the not-yet-mother tells us “Despite knowing the journey and where it will lead, I embrace it. And I welcome every moment of it.” If that's not a rare disease parent's story, what is?

But most people wouldn't summarize the 2016 film “Arrival” like my paragraph above. That paragraph covers the first five minutes and the closing twenty five, in between there's a lot of cool stuff about aliens visiting earth and humans trying to learn their language.

I have seen movie reviews describe the daughter Hannah's disease as cancer. The film never says cancer. I blame some common cinema shorthand (laziness?) of showing a shaved head on a patient to indicate illness --it must be cancer. Of course other terminal diseases might produce a need to shave your head and some cancers are rare. More important to me is when Louise describes the illness as a “very rare disease.”

The difficulty of changing your understanding is at the core of the film and the short story. On screen we see our heroes enter the alien ship and their first dose of the alien, the different, the unexpected is when the ground shifts beneath them. Gravity itself shifts. The wall is no longer the wall but the floor. Their perspective has already been forced to tilt ninety degrees. It is a clue (the humans don't pick up on) that they will need to see things differently if they want to understand the alien language and world view. Don't assume left to right or top to bottom. Those of us who have faced a rare disease diagnosis know how completely it can upend your world view and force you to begin seeing everything differently. When you hear hoof beats don't rule out zebras.

The film and the short story it was based on operate on a few levels. The Ted Chiang story “Story of Your Life” doesn't feature cancer or a rare disease but the daughter does die young. This version gives a bit more equal time to the story of the daughter's life than we see in the film. Both versions present some interesting pitfalls that come from assuming we understand what we have never encountered, like an alien language. An apocryphal example was how kangaroos got their name. The colonists ask the aboriginals what the animals were called. They replied “kang guru”. And years later it was discovered kang guru translates to “what did you say?” But the example I like better is from the book, it's not a misunderstanding, just an unknown (to me) word origin. “Infant,” our linguistics professor points out, means one without speech. Thematically that's important to the story.

It's important in my life as a rare disease dad too. My ten year old boy has no speech as a result of Menkes disease. Other aspects of his development are far behind those of a ten year old too. And often a young boy or girl (younger than Lucas) will point to him in his wheelchair and say “look a baby”. Sometimes it bothers me. I silently reply “He's older than you.” Most of the time I'm happy they want to connect. Now I know in one sense he still is an infant.

Trying to connect with the unknown is the major theme of both versions of this story. We connect best through communication. But language has its biases. Learning a new language can involve learning a new culture. How many of us in the rare disease space have had to learn new languages we never thought we'd need? – the language of geneticists, or physical therapists, of educators and their IEPs. And perhaps a new language of compassionate concern and consideration. In the film learning the alien language is a gift of perceiving time as non-sequential. Cracking the code turns the unknown into not only the known but into all things knowable: including seeing the future and the past.

While my son was still in the womb an ultrasound showed echogenic bowel. This can be an indicator that a child might be born with Downs Syndrome. Many people would choose to follow up that indication with a test of the amniotic fluid which can show more conclusively if it is Downs. The test has some risks. My wife and I were a bit confused as to why we might want that test. The OB GYN was tip toeing around some option. It slowly dawned on us and we put the words out there for her “Oh because we might decided to terminate the pregnancy?” She nodded. “We won't,” we said. And so there was no need for the test. We all thought.

A year later we had a diagnosis of Menkes Disease complete with the prognosis that Lucas would live 3-10 years. We searched for clues as to our new future. We searched the past for clues we might have missed to warn us. In conversation with a dear friend I mentioned the echogenic bowel. Her reply has stayed with me and often sustained me ever since. She said “There you see? You had already decided you would handle this.”

That feels a bit like Amy Adams' line about knowing the journey and where it will lead, and embracing every moment of it.

Why I cry every time I hear "This is Me".

The movie “The Greatest Showman” strikes a real chord in our house. We can relate. Of course any good film needs characters and situations that an audience can relate to so let me be more precise. We don't relate to the main character P.T. Barnum even though my wife and I both worked in show business. We relate, on behalf of our son with a rare disease, to the circus performers. Those people were called in the language of the time “freaks” and the term has held until far too recently. The moment in the film that feels especially true to our experience is when Lettie Lutz, the bearded lady played by Keala Settle, dances/marches toward the camera to sing/declare “This is Me”. It might seem my son Lucas has little in common with Lettie aside from perhaps some chubby cheeks and unnatural hair growth. He can't sing or dance. He can't even speak. But when he wants something and is unhappy about it he has a roar that feels to us a close cousin to Lettie's. Since watching the film we now routinely translate Lucas's roar as “This is me!”.

The film is probably emotional for any viewer. We can all find reasons to relate to the underdog and the outcast. But when you are more closely connected to the tradition of the circus freak, the emotion hits home differently.

The human oddities of the circus side show were very often people with rare diseases. The film's Dog Boy (Luciano Acuna Jr.) would likely have had the genetic disease Hypertrichosis.
Any side show giant probably had adenoma to trigger excess growth hormone. Conjoined twins, dwarfism, albinism are all part of Barnum's circus. The famed Elephant Man, Joseph Merrick is thought to have had either Neurofibromatosis (NF1) or Proteus Syndrome. Many circus contortionists actually could credit Ehlers Danlo Syndrome with their extreme flexibility wether they knew it or not.

While “The Greatest Showman” romanticizes a history that could otherwise be viewed as the exploitation of people with physical abnormalities, there are many accounts from former circus “freaks” that credit the circus trade with giving them a better life. That may be the faint praise of low expectations. Absent a job as an entertainer some of these people had few options. They might live a fairly awful life in a hospital or institution or they might be left to die outside of one. So I'm reluctant to give too much credit to the real-life Barnum and other ringmasters of the era for lifting them up from that fate.

But the movie's Barnum brings his dream to life and creates a family for these Rarities, these outcasts. Emboldened they march into society and demand that it accommodate them as they are. I imagine someone pushing my son in his wheelchair as part of that dance. And when their song declares they are not broken, they are glorious, I weep every time because that the former is what my son seems to be and the latter is what we know he really is.

That's the power of show business and film. That's why we put on our film festival, to bring more light to these glorious stories.

When demoing the concept for the film to the movie studio this moment reportedly sealed the deal.

“This is Me”
Written by Benj Pasek and Justin Paul

I'm not a stranger to the dark
Hide away, they say
'Cause we don't want your broken parts
I've learned to be ashamed of all my scars
Run away, they say
No one will love you as you are

But I won't let them break me down to dust
I know that there's a place for us
For we are glorious

When the sharpest words wanna cut me down
I'm gonna send a flood, gonna drown them out
I am brave, I am proof
I am who I'm meant to be, this is me
Look out 'cause here I come
And I'm marching on to the beat I drum
I'm not scared to be seen
I make no apologies, this is me

Another round of bullets hits my skin
Well, fire away 'cause today, I won't let the shame sink in
We are bursting through the barricades
And reach above the sun (we are warriors)
Yeah, that's what we'll become

Won't let them break me down to dust
I know that there's a place for us
For we are glorious

When the sharpest words wanna cut me down
Gonna send a flood, gonna drown them out
I am brave, I am proof
I am who I'm meant to be, this is me
Look out 'cause here I come
And I'm marching on to the beat I drum
I'm not scared to be seen
I make no apologies, this is me

And I know that I deserve your love
There's nothing I'm not worthy of
When the sharpest words wanna cut me down
I'm gonna send a flood, gonna drown them out
This is brave, this is proof
This is who I'm meant to be, this is me

Look out 'cause here I come (look out 'cause here I come)
And I'm marching on to the beat I drum (marching on, marching, marching on)
I'm not scared to be seen
I make no apologies, this is me

And if all that weren’t enough actor Sam Humphries has a rare disease.

The Pitfalls of Happy Face Advocacy

I put my son Lucas out there in the world as a (sometimes literal) poster-child for the disease he faces: Menkes Syndrome. He's pretty well suited to it since he's smiley and laughy most hours on most days. His bright sparkling eyes and wide smile are easy to capture on camera and lend themselves to engaging photos and videos to accompany awareness efforts.

That's him top right on the FaceBook page cover photo for Rare Disease on The Mighty

I know for so many who are new to a dire diagnosis it's a huge relief and comfort to find others in their disease community and learn that lives with joy are still possible even if they will be shorter and more painful. I hope Lucas is sometimes the example that re-shapes expectations of families reading the tragic black and white prognosis for Menkes Disease: a lifespan of 3-10 years facing a debilitating, degenerative disorder.

But I'm also thinking about those families with Menkes or other diseases, whose children aren't smiling much or at all. Several fellow Menkes parents have told me the age at which their smiling boy lost the ability to grin – sometimes age 2 or even 1. For them, am I adding any sorrow when I show them Lucas's smile? Is it a weird brag? Is it a dishonest impression since it's a partial one?

I hear from friends and family all the time that “Lucas is so happy all the time”. True? No, only nearly true. I will admit he is happier more of the time than anyone I know. He may spend 60-75% of his day visibly happy, 5% unhappy and the remainder neutral. Wouldn't we all wish that level of happiness for ourselves and our loved ones?

One of the earliest lessons I learned on my rare disease journey is how pointless it is to compare. To compare your child with those in typical health of course is folly. But even to compare your child with others with the same disease doesn't work. Mutations differ. Outcomes differ. Yet we're human so we often make comparisons anyway.

Lucas, and more precisely my portrayals of him, could amount to something I've begun to call Happy Face Advocacy. I don't mean that the happy face is false or a facade, but it is an incomplete portrait. It's a moment in time, perhaps representative perhaps not quite. Do I do a disservice if all or too much of the portrayal is the good stuff?

Here’s an unhappy moment.

On the global level, part of the advocacy mission should be to foster a greater acceptance and understanding of those with differences and not just the pleasant differences. Advocacy like art needs to reveal the truth. Is omitting the bad days, truthful? Some of this could be the FaceBook effect. Most people favor presenting their best selves on social media. And it can seem in bad taste to offer depictions that might appear designed to illicit pity. In avoiding pity do we miss the best chances for sympathy and empathy too?

On a more directly personal level, does showing Lucas as (almost) always happy work against our own family's needs? Friends and neighbors can be forgiven for assuming all is well in our house based on the public presentation of our boy. And then we find ourselves wondering why people near to us don't know how difficult things can be day to day.

I'm an admirer of the photographs of Dorthea Lange from the 1930s. No one would argue she tried to put a happy face on her subjects. They feel definitely real, warts and all. Even so I try to remind myself that the people in those photos, no matter how much of their struggle gets captured in her lens, at that moment when the shutter closed, were likely having one of their better moments. The brief moment they could pause from their daily grind to sit for a photographer, a welcome novelty and distraction perhaps.

So the answer to Happy Face Advocacy is not as simple as switching to Sad Face Advocacy or a warts and all approach. I think the answer lies in an honest mix of depictions of the good and the bad and more is better. That's one of the reasons we started Disorder: The Rare Disease Film Festival, to get that mix from across the range of rare diseases.

We were so proud to have paintings of children with rare disorders at our 2017 film festival thanks to Beyond the Diagnosis. We never gave a thought to which rare diseases might be represented or whether the depiction might look flattering or disturbing. The broad spectrum of rare disease experience is what our event is all about. We hope our selections of films do that too. Some feel more optimistic others get darker with revealing depictions of the struggles for patients and families.

Recently a scheduled Beyond the Diagnosis exhibit ran into problems because in the view of the hosting facility one of the painting's portrayal of a rare disease child might be “distressing” to viewers. Admirably the organizers of Beyond the Diagnosis took a stance of show all of the paintings or none of them. This is a powerful example of the slogan “alone we are rare, together we are powerful”.

Perhaps all of the above just amounts to this: we need to share the bad with the good.

Go home and love your child.

So many Rare parents have heard this from a doctor after getting a diagnosis. It's usually followed by “there's nothing we can do for her” or preceded by “There's no cure and no treatment so...”. These words can feel cruel and uncaring. They come at our worst moment and seem like an added insult to injury. But if and when we're able to get past what we wanted to hear from that doctor we might be able to hear the phrase differently.

What we wanted from the doctor was a plan, some answers, next steps that would improve our child's situation. It's hard to realize that it is not the doctor's fault that there is nothing to be done for so many of these diseases. “Go home and love your child.”

We hate that phrase because it's defeatist. The doctor is abandoning us to our fate. We will find no assistance here. “Go home and love your child.”

But divorced from the context of the diagnosis-day's news, that phrase is wonderful advice. It may be cold comfort and the very least help a physician can offer, but he or she has resorted to it for a reason. That advice may not be the only thing we can do for our kids, but it's the best thing we can do.

And it is also the best advice for everyone else with kids, even if the kids are in typical health.

But when facing your child's Rare diagnosis, going home to love them is everything. You will love them for what they are and not for what they could have been. You will love them enough to fight for whatever comforts, accommodations and treatments are out there that will make you child's life the best it can be even if it isn't the longest life we could hope for. You will go home and love your child and you will get online and find resources more expert than the doctor who gave you the diagnosis. You will educate yourself and learn to love your child enough to ignore the doctor who says there's nothing we can do. You will find something to do, if not in time for your own child then for the next ones who will face this diagnosis.

You will love your child more than you knew you could. You will find joys you thought impossible. You will find hopes you were told are improbable. Some of those hopes will be dashed and new hopes will creep in to replace them. A Rare advocate named Nisa Katz introduced me to the phrase “chronic hope”. Rare patients suffer from chronic hope. Rare parents suffer from chronic hope too. That hope comes in many colors. It isn't just the bright hope for a cure, a treatment, or a fix. It can be a hope as dark as wishing for a quick pain-free death. It can be the soft hope that today will be a good day. It can be the bolder hope that the good days will out number the bad.

Maybe you'll do nothing more than enjoy your life with your child. Good. That is what you were meant to do. It's what you were meant to do before getting the diagnosis and it remains your purpose after the diagnosis. “Go home and love your child.”

When "How are you?" is a loaded question.

How are you doing?

For almost all of us in our daily life this question has become nearly meaningless. It's part of an exchange of the most minimal pleasantries. We think of it more akin to saying hello than an actual request for more information. The most expected –if not the only acceptable-- reply is “good”, “hanging in there” or “not bad”. Rarely does the questioner push for much more of an answer.

But with a rare disease the question can shift a bit. Asking about my son, Lucas, there can be just enough added interest to suggest the answer should have more detail than the minimal “pretty good”. People phrase the question with a bit more intention. “How's Lucas doing?” means something a bit different than “How are you doing?” and “How has Lucas been?” might carry a bit more weight.

When I'm asked this I have to decide pretty quickly how much of an answer you want. Is one or both of us in too much of a hurry for an answer other than “He's good.”? A fellow rare disease parent and advocate Jennifer Siedman of Courageous Parents Network calls this the Supermarket Answer. The quick response you might offer when passing an acquaintance in the supermarket. We know we don't have time to get into a longer more accurate answer. Bo Bigelow ran with this notion in an episode of his podcast “Stronger Everyday”.

Personally I never feel honest using the short hand answer “He's good.” even when we're in a stretch of mostly positive health for Lucas. Should I answer “He's good, for now”? It is pretty accurate but a bit brutal. The shorter answer feels dismissive of their interest, like I don't want to talk about it and they've bothered me by asking. This is almost never the case. I love to talk about Lucas and am always appreciate of others' concern for him. Also anyone who knows Lucas' condition finds an unqualified answer of “good” disingenuous. They know he's not in normal health and the potential for health catastrophes is always looming. What do I mean by “good” am I brushing off the question?

So my go-to answer has become just a bit more involved. When Lucas has indeed been healthy for a stretch, I'll answer “He's been his version of healthy. Lots of laughs and smiles.” or “He's surprisingly healthy, we measure that by no unplanned hospital visits in the past 2 years.” Yep, that exact mouthful. I feel I have to define my terms if I say good or healthy describing my son. If the friend I'm talking to has learned anything about Menkes Disease they're aware of how bad things might be. Lucas and boys like him could have seizures, could go blind, could get pneumonia, could die. Do I need to list that none of those things have happened recently? If I don't do I sound reconciled to our fate or far more comfortable with bad fortune that anyone should be?

Another aspect of the supermarket answer is not just how much time you have for my answer but how much of our reality you are ready to hear about. I don't want to dump a litany of complaints on you. Some friends probably don't want a casual conversation that quickly turns to the likelihood of a child (my child) dying in the next few years.

Perhaps it's best to start out vague and wait to see if there's a follow up question. “So he's better?” (No, I can never say a blanket yes to that one.) “Any new research on Menkes?” (You've opened the door wide with that question my friend. Thank you.).

And it's no better in the virtual space compared to actual face to face encounters. In our social media world where often only our best moments get shared with distant friends or family it can be hard to find the best opportunity to share the other side of life. Of course I'd rather post the pictures of my smiling, laughing boy over one of his pained expressions. And most people would prefer to see the smiling photos. But some people do want to know more of the story. Is it misleading to leave out the rough times? I think it is. Is it a disservice to other families facing Menkes disease if I make it come off like it's not a big struggle for our family?

And so you know as of this writing we've had a very good stretch for Lucas measured by no emergency hospital trips in three years. Last week he did have scheduled “routine” minor surgery that went very well. And yet even those two sentences of update feel misleading as I bear in mind most kids with Menkes don't live to age ten and he's now more than nine years old.

So how are we doing?

How much time do you have?

Rare Awareness Award winners

Bo and Daniel were deeply honored to to be presented with the first Rare Awareness Award from MassBio, Massachusetts General Hospital Frontotemporal Disorders Unit and NORD at the 2018 Rare Disease Day event last month.
The award sought to honor someone who is advancing the cause of all rare diseases.
Held at the UMass Club in Boston  on Wednesday, February 28,  the event aimed to raise awareness for rare disease and the research being done in Massachusetts to provide new treatments and cures. The room at the UMass Club was set up with chairs for 350 people but over 500 attended.

Speakers included:

Representative Brian M. Ashe, Massachusetts House of Representatives

Katie Brandt, Director of Caregiver Support Services, Frontotemporal Disorders Unit,
Massachusetts General Hospital (Emcee)

Bo Bigelow & Daniel DeFabio, co-founders, DISORDER, The Rare Disease Film Festival

Michelle Hirsch Donovan, mother of a child with Neurofibromatosis, type 1 (NF1)

Richard P. Kennedy, President, The Angel Fund for ALS Research

Jen Melanson, patient with Hypoparathyroidism and CTLA4 Haploinsufficiency

#PatientDriven

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.

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.

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?”

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

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).