Rare Disease in Top Hollywood Films

As much as we love to showcase the rare disease films on our streaming channel The Disorder Channel, or by screening them at conferences or at our film festival, you can’t beat the star power of a major Hollywood production. And so when we find one that touches on a rare disease we do our best to make it known.

Below are several reviews we’ve written on Hollywood films that address life with a rare disease.

The Saint of Second Chances (Batten) and One Shot to Live
Knox Goes Away (CJD) and One in a Million
Madame Web (Myasthenia Gravis) and The Magic Bracelet (Mito)
The Old Guard (ALS) and My Turn (ALS)
The Favourite - Queen Anne likely had Antiphospholipid syndrome (APS), or Hughes syndrome
7 Movies you didn't know were about Rare diseases, and 5 you probably did.
Midnight Sun - (XP, xeroderma pigmentosum)
Unbreakable, Split and Glass - a rare disease superhero trilogy
Arrival - an unnamed “very rare disease”
The Greatest Showman

We need to Ritualize Chronic Compassion

Most of us facing rare diseases or medically complex life have had the experience of feeling like no one (or not enough people) are there for you when you need them.  And to be fair the opposite can also be true; I’ve been amazed time and time again at who does show up. It’s seldom the people you’d expect.  But to the extent that this lack of support is understandable I trace it back to our societal norms and expectations. How do any of us know how to act or react in any situation? A friend needs help and compassion. That can be too vague to process, especially when the reason for it is something we’ve never encountered. And with rare diseases a whole lot of it falls in the bucket of stuff people have likely not encountered. 

I’ve found where people do best is where we have more commonly understood expectations. Often these become crystallized in society as rituals. Rituals for compassion.  The clearest examples might be around a death. You might sit shiva, attend a funeral or a wake, you might send flowers, a card or casserole. Culturally we have a bit of a playbook for how to be supportive at key moments.  To a lesser extent key moments might include the news of a dire diagnosis. I’ve found people are pretty good about showing up in the first days after diagnosis when the news is fresh and the stress most acute.  Other discrete moments where our need may seem more obvious might be emergency hospitalizations. Many friends and loved ones know how to show up for these. Some physically show up at the hospital, perhaps with a gift or a meal. Others send cards or well wishes. For the most part our shared communal life prepares us with at least some general guidance of how to be supportive for these moments.

But beyond these discrete moments and more specifically between them, are so many more needs, less apparent needs, less appreciated or understood needs. By definition a chronic illness comes with chronic challenges and chronic needs. How have we not more commonly realized it comes with a need for chronic compassion and support?

I can recall too many friends who were there for us at diagnosis and there for us when my son passed and yet I feel there was a ten year stretch of struggle in between those two events where we had equal or greater need for support. 

I want to be fair and acknowledge this is a lot to ask of people. How can they know what we don’t tell them? Is this just a case of you won’t get what you don’t ask for? But there’s a trap here too. Families facing rare disease have struggled with well intentioned offers of some vague help. “Let me know what I can do.” “Is there anything I can do?” Often we bristle at this or pass it off with a no thank you, largely because with all the burdens we are managing we do not want to add a new burden of figuring out the way you can help. 

One part of the solution can be if those offering help add a specific to their offer. “Is there anything I can do? Maybe babysit Saturday?” This is helpful even when the specific offer is not one you need.  It helps signal their seriousness and degree of willingness. It can be a way of level setting expectations too.  Imagine the friends who asked “Is there anything I can do? Maybe build a downstairs bathroom for you?” First of all, wow!  But if we didn’t want or need that bathroom, we now know this is the friend who might be willing to help build a wheelchair ramp. And smaller offers help in the same way. “Can I bring over groceries?” might make us more comfortable asking that person “Could you pick up my kid from school instead?”.

And the flipside is that we should be more prepared for when the vague offers come our way.  People will offer to help. We should know what help we want from them.  It’s much easier and less awkward if we have this as a list ready to go before anyone asks.  For me a webpage with a wishlist or to-do I can point them to is useful. It also means they can pick the things they are more capable of or willing to do.  But having a printed list at the ready can do the same thing.

As much as these strategies may help they still rely on moments when people see the need to offer help. We may know the answer to when do you need help is “always”. But that’s probably not as obvious to the rest of the world as we think. The more we seem to be managing well, the less we’ll get offers of help.  Way to go us. We got our act together just enough to make it look like we don’t need help. 

And this can even work against us with the more obvious moments of needs. Earlier I said an emergency hospitalization would likely bring support from our people. True, except, with chronic illness we are probably turning emergency hospital trips into something so frequent they start to look like routine hospitalizations. And then the offers of help drop off, because again it looks like we got this covered.

This was one reason I began posting to FaceBook each time my son was hospitalized. In part it was the easiest way to keep loved ones up to date –easier than texting a dozen people. It was also with an eye open to the risks. Every hospital stay held the threat of going badly. I made myself think how much worse for our friends and family it would be to hear seriously bad news without the forewarning of: we’re in the hospital now. But yes, another consideration was to let our people know we were in the midst of tough times, tougher than usual times. Not so much so they’d rush to visit us in the hospital but more in case we had a need to ask for help they might see it coming or better judge how serious the need was.

So this is my wish. I wish we (all of us as a society) had more frequent markers of these moments of need from others. So we wouldn’t wait for the big bad news day, or the hospital stay or the death.  Between each of those are so many more chronic moments of need.  Can we ritualize chronic compassion? And I don’t have a great answer as to how this would work. My mind drifts toward the advice “Practice Random Acts of Kindness”.  When ever I see that slogan I tell myself oh I really need to schedule some random acts of kindness. And of course that is not very random is it? BUt maybe that gets us part way there. Maybe it’s better restated as “Practice Frequent Acts of Kindness”. It could happen.
I also think about how not many years ago few people had heard of Giving Tuesday.  Could something based on the calendar be made to help here too?  Maybe we ritualize chronic compassion with a day on the first of every month, call it First Helping Day. Wouldn’t that kick off each of our months with a positive feel? It would probably do us all more good than saying “Rabbit, rabbit.”

TESS IS NOT ALONE review

TESS IS NOT ALONE - A USP7 Story  - review by Jennifer Sills

I watched Tess is Not Alone on The Disorder Channel.  If there were a rare disease 101 list of movies to watch as you begin your journey, this would be at the top of my list.  This is a must-watch for anyone new to the rare disease space.  Bo Bigelow has many talents: podcaster, filmmaker, dad-extraordinaire to Tess, attorney, rare champion, to name a few.  His film gives some great advice.  

"5 things I can't stop thinking of after watching Tess is not Alone about the rare advocacy journey" 

1. Never give up

2. Be a beacon to find others in your community 

3. Learn from others before you, and don’t reinvent the wheel

4. There is power in numbers 

5. The profound effect of feeling like you belong 

As you enter this new ecosystem with a completely new lexicon (that is, if you weren’t a scientist before you started this journey), Bo’s film reminds us of the basics of rare disease advocacy 101.  Watch it today. 

—-

Guest blogger Jennifer Sills’ daughter was the 6th in the world to be diagnosed with Okur-Chung Neurodevelopmental Syndrome (OCNDS). Jennifer is a non-profit founder bringing together OCNDS patients, raising awareness, and driving rare disease research. She is Founder & President CSNK2A1 Foundation

Trite but True - All the life lessons you need to learn, you already know.

By Daniel DeFabio

Over the years as I've told the story of my son Lucas' life with the rare disease Menkes Syndrome, people often ask if there's any wisdom I've gained in facing that struggle. First let me say this is very flattering to think anyone would turn to me for advice or wisdom. On one hand I feel I did gain a mountain of wisdom. On the other hand I feel like to express any of it in words, I fall back on well-worn phrases we've all heard before. Can this really be the best I have to offer? There's nothing new in this. But that's the point I think. These phrases got to be well-worn for a reason. For years, in some cases for centuries, they've been spoken as the best advice we humans have stumbled upon. The trick I've discovered is not knowing the advice, but embracing it, adopting it, living it. To the extent that there may be a “gift” in living a life touched by a rare or fatal disease, that gift is probably something like an openness or a need to change our perspective and expectations. So here I'll attempt to collect several of these things we already know we should do but perhaps aren't really doing.

[ Many of these may feel duplicative, I've tried to group similar ones together. ]

Live for today, no one is guaranteed a tomorrow. We could get hit by a bus tomorrow.

Live in the moment.
What will you do with your one wild and precious life? - Mary Oliver

These boil down to don't waste your time because you can't be sure how much you have. This of course was thrown into stark relief for our family when we were told my first child would likely live only three to ten years. The mind leaps to bucket-list mode. Do we need to pack in the experiences? If Lucas won't live as long should we be sure he goes to the theme park this year and not delay til next year?

But it's more than a wish list or bucket list. It's balancing tricky priorities of the existentially urgent medical needs with the quality of life needs.

My friend Allison Muedder says this heartbreakingly in a film about her son who has Hunter Syndrome. In the film “Finn” she says “We're pushing this sweet three-year-old to learn as much as he can. Because we know he's going to lose it. That's really messed up.”

Most of us in America, if we have our basic economic needs covered, worry mostly about what we glibbly call first-world problems. I don't have a great phrase for the opposite of first-world problems. Is it third-world problems? That sounds terrible and inaccurate and probably borders on cultural appropriation. Do we call these existential problems? True enough, few things can pull you out of your head like fighting for your life (or your child's). And in a perverse way this can be liberating. When sweating the big stuff we get permission to not sweat the small stuff. But here's the kicker: we never needed that permission. Certainly not in the form of a rare disease diagnosis. Any of us and all of us should feel allowed to skip the small stuff with or without any special circumstances to put us in that mindset.

Don't sweat the small stuff and it's all small stuff.

First world problems (are not really problems)

Grant me the serenity to accept the things I cannot change, courage to change the things I can, and wisdom to know the difference.

Be the change you want to see in the world – Gandhi didn't say exactly this and what he did say is more about changing ourselves internally first in order to affect the external world. So often in rare disease life we discover something is missing or does not work as it should. Can we be the ones to create it or make it work?

Everybody's got their something. (Robin Roberts)
You have no idea the struggles others are facing.

Comparison is the thief of joy. (credited to Teddy Roosevelt)

A gratitude attitude is a huge help. Being thankful for what you have that is good rather than frustrated by what you do not have. This isn't always easy and should not be allowed to lapse into toxic positivity where we ignore or undermine the struggles.

No pain no gain.
Life is only meaningful in the struggle.
“The bravest sight in the world is to see a great man struggling against adversity.” - Seneca

“The purpose of suffering is to teach us empathy.” - I learned this one from Cristol O’Loughlin of Angel Aid Cares.

And so it goes – Vonnegut see also “Sometimes it bes like that”.

“Vulnerability sounds like truth and feels like courage.” - Brene Brown

“Courage doesn’t always roar. Sometimes courage is the quiet voice at the end of the day, saying, “I will try again tomorrow.” - Mary Anne Radmacher.

““One day you will tell your story of how you overcame what you went through and it will be someone else’s survival guide.” – Brene Brown

We all start as newbies and it's natural to question if we have any real expertise to offer. Add to this imposter syndrome. These can combine to make us reluctant to share our story. I've found myself wondering if I'm ranting, or venting. I am telling my son's story for no one's benefit but my own? The answer consistently comes back no. Someone needs to hear what I've shared. You may not know who. Until the disease you face is cured there will come generations behind you, each hungry to learn what little there is out there that might guide them.

Hell is other people.
In my 20s I learned this from Jean Paul Sartre. It took me until my 40s to learn the opposite is just as true. Heaven too is other people. Or as Elie Wessel puts it “Just as despair can come to one only from other human beings, hope, too, can be given to one only by other human beings.”

Meet people more than halfway.
This one may be original to me. What I mean by it is if two parties each meet each other halfway, they may assume they have each done enough. And the result will be a connection. But it may be a weak connection. Imagine two pieces of lumber trying to span a four foot space. Would you like Two pieces each of two feet long? Isn't it a much stronger connection with one piece two feet long and the other 3 feet long? Be prepared to go more than the minimum halfway distance and the rewards will increase through stronger connections.

Don't be upset that you did not get what you did not ask for.
“You miss 100% of the shots you do not take” Wayne Gretsky.
So often I've felt “how can they not know this is what I need or this is what I'm going through”. In my better moments I check myself and ask: did I tell them? Similarly when people ask how can they help –and they will ask-- be prepared with a specific answer. Lacking that they may not ask again, they may assume you don't really need any help. Or they may just be afraid of volunteering the wrong kind of help.

When tragedy strikes, look for the helpers.
Not so ancient wisdom from Fred Rogers. I've been surprised and amazed by those who stepped up to help my family. It was often not the people I'd expect. Discovering their why lead to much deeper relationships with them. Typically their why had similarities to my own, perhaps with a degree of remove. They had a cousin with complex medical needs for example. But beyond “look for the helpers”, be one and you'll find you attract others.

I am sure there are more tried and true phrase of wisdom and life advice I should have included here. Maybe you can add your favorites and what they mean to you as a comment.

The treachery of memory while grieving.

The treachery of memory.

Memory is unreliable. I've recently landed on an interpretation of a memory from my son Lucas' last moments alive two years ago. He didn't struggle much but if it was clear to us he was shutting down and not likely to rally. Of course we tried to rally him anyway. This is the clear memory I have of his last moment with us:

After some effort to rouse him, Lucas managed to open his eyes halfway and only briefly. As my mind replays this now I see it as only one of his eyes opening. But I'm sure it was both eyes. Perhaps one a bit more than the other. That might make sense. As always there was kindness and still some sparkle in his eyes, but now muted, tempered by exhaustion.

And my recent re-interpretation of that last look is that my non-verbal boy was saying:

I know you want me to connect with you now, and this is as much as I can give you.

If that is what he would have spoken could he speak, he would have been entirely justified given his struggles. And I sometimes latch on to this as the proof he was ready to let go of his connections to this life.

As much as this feels like an accurate recollection of the final moments, today (with two years of hindsight), I'm unsure how much I'm forcing or refocusing my memory. A bit of each, no doubt, but is a balance required? This memory feels too important to let drift in and out on its own schedule. I wish I understood better is recall a muscle that must be exercised to stay strong or is it pulling from a finite supply of flashbacks and if over tapped I'll one day discover the well has been depleted.

This final memory can feel so precious and yet torturous too. I wonder if the pain of it serves another purpose. Penance? The least one could do after losing a child is feel some suffering. Do I owe my son's memory the effort of facing the hardest part of that memory? And that difficulty, the hardship, perhaps it's more than penance, what if it signals truth to me? The memory is too powerfully uncomfortable to be false, because why would my mind invent or welcome such distress. If it is unbidden and unbearable it must be true? Today, at least, that's what I've decided.

[Lucas, lost his battle with Menkes Syndrome June 5, 2020 at age 11.5.]
Note: the photo shown here was from April, 2020 so it is not the look in his eye I try to recall in the above.i

The Top 5 Rare Disease Films of 2021

We have so many great films on The Disorder Channel that show the patient experience with rare disease(s).

Here’s what you watched the most in 2021.

1 Life & Atrophy - After their son, Miles, is diagnosed with Spinal Muscular Atrophy, a devastating neuromuscular disease causing progressive muscle loss, Nikki and Tony seek an experimental treatment to save their son.

2 THE FACES OF LAFORA - One family decides not to stop until Lafora disease (the most rare epilepsy) is erased from the face of the Earth. The Gajic family from Bosnia and Herzegovina makes the impossible, possible. in order to save the lives of their children, on the other side of the world, in Canada, professor Minassian and his team of researchers are trying to find a cure for this deadly disease.

3 My Turn - Former professional hockey star Scott Matzka grapples with ALS and plans for the remainder of his life while relentlessly advocating to find a cure for the terminal disease. Scott Matzka was in peak physical condition, and enjoyed a 13 year career as a professional hockey player for the Cardiff Devils, Grand Rapids Griffins, Cleveland Barons, Atlantic City Boardwalk Bullies, and Kalamazoo Wings.

4 Unconditional - “Unconditional, Raising a Glass Child with a PACS1 sibling” introduces the Poague Zellinger family who are facing PACS1 syndrome which affects their five year old son Finn. The phrase glass child refers to a sibling who might be neglected or given less attention because their brother or sister has more intense or dramatic needs. This is not only due to rare disease but that’s a striking example.

5 Counting Every Second - Counting Every Second, a Love Letter Series film is the story of Hannah Sames. A beautiful, young girl, diagnosed with GAN (Giant Axonal Neuropathy). GAN is a deadly, neurodegenerative rare disease. Hannah's courageous spirit battles her only enemy - the ticking clock. What happens when the powerful will of a loving family intersects with people that dedicate their lives to scientific discovery?

These films are all free to watch, streaming on Roku or FireTV on The DISORDER Channel.

The 8 stages of Rare Disease Advocacy

By Daniel DeFabio

What is Rare Disease Advocacy?

What is Advocacy?

Some are born to advocacy, others have advocacy thrust upon them.

Advocacy in general and rare disease advocacy in particular can have many different meanings in different contexts. Because of this many of us may think “I’m not an advocate.” or “I’m not that type of advocate, not the real kind.” We may assume only those getting a law passed or raising the millions to fund a cure are worthy of the title. We may not realize that even those highly visible advocates started with one small step after getting bad news during a doctor’s visit.  I want to tell you every type of advocacy on this list is equally worthy. We each do what we can do as it is needed of us.

Few of us are likely to choose to be an advocate, rather we find ourselves in situations that require us to advocate. We learn as we go. We may not even realize that advocacy is what we are doing. And that is one of the reasons for this list. You may be one or several of the types of advocates on this list. You may switch back and forth among them. The order I list them here might be true to your experience or you may adopt these roles in any sequence.

For the parents of a child with Rare disease:

1. Advocating for medical care

2. Advocating for home services

3. Advocating for school and educational concerns

4. Advocating in your community for access and inclusion

5. Advocating for disease awareness/ fundraising

6. Advocating for industry/ pharma to do research

7. Advocating across rare diseases (no longer disease specific concerns)

8. Advocating for local or national legislation

Because there are so many versions of advocacy, many of us are uncomfortable giving ourselves the label of advocate.  We may think “Oh I advocate when I need to but I’m not an advocate.” We tend to think that only efforts that are larger in scope (like items 6-8 above) make for a “real” advocate.  Guess what? All advocacy is real.

Advocating for medical care

This may be the easiest role to slip into unnoticed at first, even unnoticed to yourself. It can be as simple as questioning a Doctor’s assessment and seeking a second opinion. In the typical health care arena we’ve come to expect that Doctor-knows-best and will have the answers. In the rare disease space we quickly discover the limits of even the best doctor's knowledge and grow more confident in our own knowledge of our child’s needs and symptoms. In the typical health setting we may fear that a doctor may be put off or offended when we seek a second opinion. In the rare space the stakes are so high, the unknowns so numerous we get past that concern about bruising a doctor’s ego. We turn to multiple sources in hopes of the best answers for our children. This is advocacy.

Advocating for home services

This is another version of advocacy we might find we have no choice but to engage in. Many of us discover that care for our child at home is impossible without the help of special equipment or therapists, maybe a home nurse. It can be a fight to get any of these, and to get them paid for. Who pays? Your health insurance? Medicaid? A charitable organization? Different US states have different programs with various eligibility requirements. It can be a major challenge to get in the system and then work through approvals. Do this a few times and you’ll discover your inner dragon mom (or dad). That is advocacy.

Advocating for school and educational concerns

As rare kiddos reach school age dozens of new concerns and challenges come our way. If you’re lucky your public school system has a good program to address special needs students. They may even make the process close to painless. But you’re now in the world of IEPs (individualized education programs) and discovering what the law requires (and does not require) in terms of including and accommodating your child to offer them as close to the “typical” educational experience as possible. Anytime this process is not delivering the results you need for your child and you decide to push back and require more be done. This is advocacy.

Advocating for in your community for access and inclusion

Maybe the local playground can’t be reached by wheelchair (bark chip mulch is not your friend). Or it lacks accessible equipment.   Maybe you know a sidewalk that is impassable in a wheelchair or a corner at an intersection that could use indicators for the blind. If you try to make those things happen you might end up fighting city hall or working with your local politicians.  You will find yourself speaking up at public meetings, writing letters, and doing anything you can to get your issue noticed.  This is advocacy. 

Advocating for disease awareness/ fundraising

Rare disease is expensive.  Families need to find ways to pay for treatments, care and adaptations.  On a larger scale, someone needs to pay for the research about each disease. You will find many reasons that awareness and funds will need to be raised.  A lot of us find ourselves doing a version of this.  It can be as simple as using Facebook to ask for your birthday to be celebrated with donations to your rare disease foundation. And it can be bigger gala events or 5k runs or bake sales. It can be approaching philanthropists for contributions. You start telling your story to share why these fundraisers matter to you. This is advocacy.

Advocating for industry/ pharma to do research

The cost of medical research is astounding. Over 95% of rare diseases do not have an approved treatment.  Even well-funded and successful pharmaceutical and biotech companies need to make choices about what they study. You need to convince them to choose your disease.  This can seem like one of the most intimidating ways to advocate. Most of us don’t start off with this one. We build our strengths in some of the other areas on the list before tackling this one. Getting people in research and industry to take an interest in your cause can be tough. Some good news here, if they are already interested in your disease or some related science, introducing yourself to them can be very welcome.  This is because they often can not find enough patients and you can become a major help on that front. Here’s some more good news, getting started can be easier than you may imagine.  Just having a list of patient family names with email addresses represents a very valuable thing. Eventually you may build this up into a more formal patient registry and from there a patient history. But even if all you have is the contact list, you’re advancing the cause. This is advocacy

Advocating across rare diseases

You’ve probably heard the slogan “Alone we are rare, together we are strong”. While the biology of these diseases may be unique, rare patients and families share the same challenges. Unless the rare disease that affects your family is one of those with larger populations (Cystic Fibrosis, SMA, Sickle Cell), you may find it hard to reach a critical mass. It might be more strategic to advocate for the broader category of all rare diseases or all rare neurological diseases or some category within rare that might expand your numbers. This can be especially true for ultra rare diseases that might have global patient populations of 200 hundred or fewer. Despite there being about 30 million Americans with a rare disease we seldom mobilize as a block, an interest group, that represents 1/10 of our population. We should. This is advocacy.

Advocating for local or national legislation

One key way an interest group can advocate is by seeking to enact new legislation. Whether this is for access to experimental therapies or wheelchair access into a public space, lobbying your lawmakers from town level on up through state to national levels is one way to make bigger changes that can benefit more people dealing with rare diseases. Organizations like the Everylife Foundation’s Rare Disease Legislative Advocates (RDLA) organize efforts to meet with your Senators, Representative, and state officials to tell your story.. These meetings can be very powerful.  After all, the modern model for rare disease advocacy, NORD, was born out of the efforts of concerned rare families like Abbey Meyers and Muriel Guthrie lobbying for the creation of 1983’s Orphan Drug Act. 

Just imagine what you and a few dedicated rare disease friends might accomplish. This is Advocacy.  

What to keep in your hospital to go bag if you're facing a rare disease.

We know that we can’t predict when we’ll need to rush to the hospital and the visits never seem to be in and out in the same day. You’re probably getting admitted overnight — or for several nights. So it’s best to have a hospital go bag already packed. And this handy list from Effie Parks will help you remember what to put in it.

A pediatrician (who is also a rare disease mom) on how to manage your care team.

A recent episode of Once Upon a Gene TV on The Disorder Channel featured our guest Dr. Nicole Glenn. She is not only a pediatrician but a rare disease mom. She offered us some advice on how to coordinate a medical team that can involve a lot of specialists. The biggest surprise lesson for me was that sometimes the medical team leader needs to be the patient.

A rare disease mom's tips for those newly diagnosed.

Our latest episode of Once Upon a Gene TV on The Disorder Channel featured our guest Becky Benson, a Tay Sachs mom and author. She had a number of great tips for those new to rare disease. One of my faves: carry business cards that explain your disease (so you don’t have to do it every time).

Ring Theory and Rare Disease - Compassion and Concern go toward the center.

Our latest episode of Once Upon a Gene TV on The Disorder Channel featured our guest Becky Benson, a Tay Sachs mom and author. She mentioned Ring Theory on our show and we wanted to give that some more attention for anyone not familiar with it.

Tips for making videos during a pandemic lockdown

This post is not exactly a how-to make videos post. For that, you should read this earlier post.

Perhaps unique to our times of Covid-19 and increased video calls, a lot of people are fatigued by looking at too many Zoom or Google Meet screens with a grid of small faces.

So if you are shooting video in these times it can be a help if you avoid that look.

If your are shooting on your phone or laptop (your phone likely has the better quality camera) try to make your shot look like something other than the head and shoulders perched directly center in front of a computer sort of shot we see in Zoom meetings. Can you go outdoors to shoot? Consider sitting slightly off center or maybe not quite in profile to your camera but what's called three-quarter view.

If you have no choice but to use Zoom or Google Meet or something similar to record interviews, use the mode where one speaker fills the screen. Don't show the grid of other attendees—it's less compelling video. It also looks “cheap” and can trigger Zoom fatigue. Yes, Zoom fatigue is a real thing. It stems in part from the added effort our eyes make to track the expressions on several small faces laid out on one screen. An effort that is so much easier in person with life-sized faces that we never think about doing that work.

Your biggest advantage is you can edit your video before you share it. And you should. Not only to edit out pauses, errors, false starts, or other unwanted sections but to edit in additional material. A big help here is adding b-roll footage. Think of b-roll as related visuals where the audio is less important and doesn't include necessary dialogue. So if you're discussing an injection, can you add in footage of someone in your family getting an injection? Or you could track down stock footage of an injection. Just be sure you acquire the footage properly. Is it royalty-free stock footage, which grants you the right to post it online or broadcast it?

If you're ready to get a little more advanced, consider using two cameras for one interview subject. This could be two phone cameras. You'll need a way to have a reference point for synching them. You see this in Hollywood done with sticks or a slate marker clap board. But you can also do it just by clapping your hands together. Make sure the clap is visible on both cameras and the audio is loud enough for both.

If you want to try two cameras in a Zoom meeting you might invite your guest twice. Once for their laptop camera and once for their cell phone. One could be straight on and the other more profile. But switching between the two views could be less than ideal. This article goes over that type of set up.
It's specific to a live video tool called BeLive but the concepts will apply to other video solutions too.

And for advice on which cameras to use if you don't like your built-in camera options try this article.

More Hollywood films that touch on Rare disease, this time ALS.

The Netflix movie “The Old Guard” uses the pain of a man who lost his wife to ALS to motivate his actions that drive the plot (spoilers on the link.)

“The Old Guard” has ALS in the backstory.

Dagmar Munn of ALS News Todays gets into that film and a few others that deal with ALS here:

https://alsnewstoday.com/2020/07/21/lets-go-to-the-movies/

And over on our new TV channel, The Disorder Channel, you can watch “My Turn”. “My Turn” follows professional hockey player Scott Matzka as he grapples with ALS and plans for the remainder of his life while relentlessly advocating to find a cure for the terminal disease. Scott Matzka was in peak physical condition, and enjoyed a 13 year career as a professional hockey player for the Cardiff Devils, Grand Rapids Griffins, Cleveland Barons, Atlantic City Boardwalk Bullies, and Kalamazoo Wings.

The film “My Turn” about the rare disease ALS is streaming on The Disorder Channel now.

We're all Rare Disease families now.

I'm not the only one thinking about the ways in which the pandemic of Covid19 has brought almost all of us into terrain that is unfamiliar, but perhaps less unfamiliar to those who have faced rare diseases. By definition there should be little in common between the world's most prevalent disease and the world's least common diseases. But emotionally, attitudinally, and mindset-wise there are overlaps.

Are you suddenly unrooted from the life you expected to have and forced to face a new less predictable one? That's the rare disease experience.

Have you called into question even the most basic expectations of what a “normal” day or month is? That's the rare disease experience.

Are you now terrified that you or someone you love could die from a disease you'd never heard of a few months ago? A disease with no cure, few treatments and bleak hope? That's the rare disease experience.

Have you been forced to learn to be an amateur nurse? That's the rare disease experience.

This is not a snide gotcha of “yeah welcome to my world people.” I hope it's more along the lines of “we know some of what you're going through, since we've been through it already.” Maybe it can help.

It's not a situation of the one eyed man becoming king when all the world goes blind. Nor is it as hopeless as the blind leading the blind. It might be more like the experienced blind can help lead the newly blind. Rare disease families don't hold all the answers, but we have encountered a lot of these questions before.

Social isolation? Rare families are old hands at that. Some of us only in the emotional sense, but others like some Cystic Fibrosis patients have years of experience avoiding handshakes or observing six feet apart safe zones.

What have I learned that might help you right now? Most of it centers around expectations. This can sound bleak. If I tell you the key to happiness is to expect less happiness --yikes. And that's not quite my point. But if this situation lasts long enough we may begin to let go of some of our expectations and when that happens room is created for new joys. Maybe smaller joys that we weren't noticing or appreciating before this. Suppose in the “before” a really great day meant you got a promotion. Perhaps in the “new normal” a really great day is the one where you get to walk in the sunshine.

I don't want to seem dismissive. It's not as simple as as “Don't worry, be happy” (I have always hated that song and its sentiment.) More like don't worry, there can still be happiness in the face of tragedy. It's not as easy as adopting a gratitude attitude (although that is a huge help). Getting through this is hard. Living for the present moment when the future is in doubt is hard. You may find yourself going through the stages of grief and not knowing what you are grieving. If no one close to you has died what is it you are grieving? I suspect you are pre-grieving. Or you are grieving the expectations you had for the future.

I was supposed to be away on vacation. I was supposed to grow my business with a new account. Suppositions and expectations all seem to have gone by the wayside. Some may be temporary –we'll probably travel again. Some may not – some businesses might not survive.

It's unsettling at best and can be paralyzing at its worst. That's a key. Think about it, do what you can about it, and take the time you need to feel it but don't let it paralyze you. Do something. Do the very small something you can do and then do the next something. I can't cure my son's rare disease. I can wipe his mouth. I can change his diaper.

As my friend Ellen told me “We are all jugglers of hopes and burdens, the light and the heavy.  And everything else is just the sideshow.”

In the film festival I co-founded for rare disease stories, Disorder: the Rare Disease Film Festival, we screened a deeply moving film that addresses taking the tiniest step forward you can manage. Academy Award winning director Cynthia Wade joined us to screen her film “Beyond Blue” about a woman battling a rare cancer. You can watch it here:

It's 10 minutes long. If you don't have 10 minutes skip to the 6 minute mark.

If you can't watch a video at all, I'll summarize: The woman feels the end is close, she can't fight anymore. Her friend pleads with her to fight for one more day. “I can't do this. I can't go another hour.” Then just 5 more minutes. “I can't fight for 5 more minutes” Okay then just do one more breath, “Okay, one breath at a time.”

As we are forced to live lives of existential import, we might find out how many other concerns need not have ever been so great. We've jokingly called them “first world problems” because we in the first world seldom have to worry about the existential: whether we will have the food or medicine to survive.

The wisest philosophies often tell us to stay in the now, and be present in the present moment. Feeling fragile or feeling that time is precious can force that mindset upon us, or grant us permission to embrace it.

Not to add to your worries but maybe the current temporary reality will turn out to be not so temporary. It might be easiest to think of our shelter at home times as a brief month or so and then we'll be back to normal. What if it's longer? Concerns of rare disease families's differ from the present pandemic concerns in a crucial way: we don't expect the situation to pass, to resolve itself (not happily). So as best we're able we take all the unwanted, uninvited medical twists and challenges that are thrown at us and look to find a way to have a good life in the face of them, in spite of them, and in between them.

And as this new unwelcome experience forces us to rethink so many things, let's be sure to re-think how much of that “old normal” we really want back when we get to our “new normal”.

A silver lining in all this may come from the insights we gain into how the way it always was, “way it has to be” might not in fact be the way it has to be. When we hear the possibility that only those who can afford treatment might survive Covid19, we are rightly disgusted and demand that everyone should be saved regardless of ability to pay. Fantastic, hold that line. And remember it in the new normal when people can't afford their diabetes meds. In this moment of crisis some governments and corporations are reducing penalties, fees or offering more goods and services for free. How much of that doesn't have to (or should not) snap back to the old defaults? When crucial care for all people is the primary overarching consideration aren't we actually making better policies?

I could list more examples of emergency relief measures that might make us wonder why they weren't our default norms before but I don't have to since this article does.

Try to ignore the inflammatory clickbait headline. I don't think America is a sham. I know many who feel government can't solve problems and they'll point to a disaster as proof of that. I think government works fairly well for the routine stuff. But when the unexpected crisis comes along any big system can get strained to nearly breaking. Individuals are like this too. Most of us are living in that strain right now. I believe government (and churches, charities or NGOs) are meant for those efforts that are bigger than the individual. When our shared interest is larger than our self interest, we band together. That's how we got government in the first place. We've drifted far from that founding intent at times, perhaps often forgetting it. But government is meant to be we the people pooling our efforts, sharing our burdens. Maybe it takes a crisis like this to put the lie to the myth of self reliance. Rugged individualism works okay for the rugged. But we should be better than survival of the fittest. Don't we want survival of the most instead?
Rare disease families know how a medical challenge can overwhelm your individual capabilities. When strained beyond their capacities individuals turn to institutions for support. We're now living a frightening experiment where we discover how many individuals our institutions can support at the same time. When the dust settles if that number is fewer than we'd hoped we should ask why? Is it a scarcity of resources? Why were they scarce? Did the marketplace not value them? Was the marketplace itself part of the problem?

Rare disease families are used to this too. Even though 1 in 10 people have a rare disease they were called Orphan Diseases, because they were orphaned by the marketplace. Drug companies couldn't put their scarce resources into so small a population if they hoped to turn a profit. You've probably heard a similar example recently of the company that was building low cost ventilators but abandoned the project since there wasn't enough profit in it.

We hear: use your bootstraps, fix your own problems, we don't need government. Self reliance is the way. Hmm. Unless the self you're relying on has some doctor level medical skills, some farmer level food producing skills and some teacher level education skills, we're all going to need to rely on people other than our own selves. And I'm far from the first to point out (you've probably seen memes on it) many of the new “essential” workers we're relying on for care and food and deliveries are the same people some of us thought didn't deserve a living wage for their work.

When we come through this on the other side, let's not be too quick to wish things back to the old normal. Let's remember how we wanted things to be when our lives depended on it. Let's reshape our new normal to be like that. So that everyone's life is precious and should be protected and supported. Let's remember when some voices said we should let the vulnerable die rather than harm the economy many more voices said that is not acceptable.

Let's build the new normal that is unwilling to dismiss problems if they “only affect the vulnerable”.

During this pandemic are you surprised to learn how compassionate you are for others' problems even if they are unlike any of your own? That's the rare disease experience.

Are finding yourself afraid, yet stronger than you knew? That's the rare disease experience.

Do you see a need to advocate for something better than the way things have always been?
That's the rare disease experience.

How to make your own rare-disease film.

One of the questions we get asked most often is “How can I make a film about my rare disease?” or “If I make a film with my phone will it be good enough for your festival?” What follows is pretty much selections from Filmmaking 101, so if you already know those basics you can skip it. Although I do make some points that are unique to the rare-disease advocacy films, apart from other types of documentaries.

You can do it all yourself --but don't.
Tech and gear are cheap. But people filling each specialized role are invaluable. Get a crew of friends, a crew of professionals, or something in between, but get a crew.

Ask for help.
Get a film student or recent grad to take this project on. As a creative professional I hate asking other creatives to work for free. But as a rare advocate you have to get used to asking for more than you're comfortable with.

Find continuously available or committed help. Especially if you aren't paying them. You don't want to get caught with someone who starts a job on your film but can't finish. Try to work in discrete chunks and take delivery of the finished pieces as frequently as possible. Imagine an editor who finishes half your film and has to quit, and doesn't get around to delivering the finished pieces to you. If your camera person is not also your editor, get the camera card (footage) from them at the end of every day's shoot. Buy the cards for them. Buy yourself a card reader. As soon as you get the cards home, duplicate them.

Decide how you want to tell your story.
Imagine it with just your family talking. Imagine the leading researcher talking. Imagine if only your neighbors told the story. What if it were a silent film? Imagine if it were an animated cartoon. Now think if all of those techniques were used together. Or if all but one were used. This will help you decide the best way to tell your story. Many of our rare stories are literally one in a million stories. So it can be tempting to think that automatically makes our films uniquely interesting. Perhaps it does, potentially. But you still have to craft it, to tell the story in a unique way. Imagine screening your finished film here with us at Disorder: The Rare Disease Film Festival where it gets surrounded by dozens of other films which are also one in a million stories. What will make your film unique among them?

Shoot in HD or maybe 4K.
If you have an old video camera (using tapes), don't use it. It's probably standard definition which would be usable only for an online video and not for broadcast. You may think your film will never need to be broadcast, but you could get a lucky break, or more likely the local news might ask for clips to include in a story on your disorder. Higher quality cameras like 4K are becoming more common. Your phone might even shoot 4k video. That may be overkill for your needs but if you can shoot in 4K affordably, go for it. (It may slow and complicate your editing though.)

Use a tripod.
They can be cheap and adapters to hold smart phones are also cheap.

Cheap tripod here. Cheap phone attachment here.

You can shoot it all on your iPhone.
But don't record your audio that way. A lot of non-film makers don't realize audio is probably more important than video in film. Or perhaps it's more fair to say bad audio is worse in film than bad video. You can make your whole movie on an iPhone but you should use two: one close enough to get sound (like in a shirt pocket) and one as your camera. Synch the two in editing using hand claps or a clapper board.

Use a mic.
Lavalier mics are cheap and clip close to your subject's neck. Or a boom mic can be placed just out of the shot on a stand or with a crew person holding it. These mics can be input to your camera and you'll get automatic synchronization of audio and video. Do not rely on a camera's built in microphone for your audio—it never sounds very good, plus it picks up camera noise.

Use lights.
And watch out for harsh shadows. Video interview light kits have become very inexpensive. But if you don't have one, even 500-watt work lights from the hardware store can work. They can get hot though. New LED versions stay cool. You probably want more light than you'd expect. More than normal room lighting. Having more light helps your camera get good colors. You can always darken your footage in editing if you want a different mood, but brightening dark footage is trickier.

If you have three lights to work with, learn the basics of “three point lighting”. There are many tutorials for this on YouTube.

If you can't get lights, consider a sunny window with a sheer curtain. The sheer softens your main light. Position your interviewee so the light hits them well on one side. Then make or find a white bounce card (like a poster board) to go off camera on their less lit side. This will bounce some of the sunlight and reduce the shadows.

Shoot b-roll.
B-roll is footage that doesn't have dialogue. It might show scenes or action that are described in the dialogue, or it might be more abstract. Consider a mom staring up at some clouds. That is so open to interpretation it can be used anywhere in your film. It could be the video to go over audio like “It was the worst day of my life.” or over “That was a sign there was hope.”

B-roll is important for the pacing of your edit. You don't want it to be all talking, all information. You'll want quieter moments where only music is heard to let your audience feel and digest what you're presented. And b-roll footage is what you can show in these spots. Scenes like: your kids playing, mom counting out pills, dad making a meal, taking a walk, doctor visits. If your camera can shoot slow motion footage, B-roll can be a good occasion to do this. Ordinary events like picking up a toy can take on more import when shown in slow motion. As with most stylized techniques be careful not to over rely on this one.

Get permission from everyone you show on camera.
In writing. Have them sign a talent appearance release agreement.

Color correct.
If you don't know what this is you should learn or find someone else to do it. (It’s how you get the best colors from your video and can also set a mood.)

Score.
There are lots of free or cheap, royalty-free music sources online. Or find someone to compose original music for your film. But you cannot grab songs from popular artists and use it without permission.

Credits part 1.
Think about that long scroll of credits in a Hollywood film. Easily hundreds of people. Most with highly specialized talents. And when you make your smaller film you have do all of those jobs or find people to do them. Some won't apply. You probably won't need any CG artists to create special effects animations. But what if you want animated charts in your film? Before you start making your film study some credits of a low budget movie. Ask yourself what each job does. A gaffer is the lead electrician. You might think you can do without one. You may be right but take the cue to think “will I be plugging in more lights than the outlet can power?” The key grip makes sure the camera and lights are rigged as needed. You might think, I'll just set the tripod and the light stands. And it could be that simple, but again try to plan it out in advance. Maybe you'll shoot on a staircase or a hill, or in a pool where the basic stands don't cut it. Carefully viewing the credits should bring other needs to mind: caterer --oh, I should plan to feed everyone lunch if it's a long day?, wardrobe – oh, they can just wear want they want right? Maybe, but probably not a shirt the same color as the background or one with narrow stripes (these can distort on camera).

Credits part 2.
The ones you end your own film with. That vertical scroll of names looks very legit, very feature film. But you're safer making still cards that get replaced like a slide show rather than scrolling. Scrolling text can shudder or flicker if not done correctly. And what might look fine on computers could look bad on TVs.

Credits part 3.
Give everyone credit. Every job and every favor. This is even more important if you haven't paid them. Don't forget your stock footage and music credits. And in my opinion your last credit should be a URL for more information on the disorder or advocacy group.

Consider delaying the online debut.
As advocates we want to reach the most people with our message as fast as possible. And sharing it online is ideally suited for that. Maybe our touching film will even go viral. But if you want your film to have a good run at film festivals be aware many of them will reject a film that is available to view online.

Choose your film festivals wisely.
Your goals are probably different than most indy filmmakers'. It's easy to feel the lure of every film festival, especially if you love the host city, or it's a name you've heard of like Sundance, Tribeca or Toronto. But ask if each festival offers you the best audience. And will you be able to attend? If not your impact is minimized. Many festivals have screenings with audiences of 10-20 people. Is that worth your efforts? Science, medical and disability themed film festivals are sometimes your best options.

Think about industry and advocacy conferences.
These might be much better fits for you than traditional film festivals. Imagine a crowd of 500 genetic counselors watching your film. There are several conferences like that you could approach. The downside is the conference organizers are not always thinking they'd like to screen a film. You have to sell them on the idea.

Note: the equipment linked here is not selected for best quality. It’s selected as an affordable option.

The Unbearable Lightness of Being on Oxygen

The run up to our film festival is a lot of work. I tend to let some other aspects of my life slip a bit thinking I’ll give them the attention they need once the festival is over and things calm down. This year that calm did not last long. From just after Thanksgiving to just before New Year’s has been a bit rough for my boy. For all of us.

This is about breathing, and taking a breath. Mostly as concerns my son, but also for his mom and me. Due to complications from Menkes Disease my son was recently put on oxygen. It shouldn't be such a big deal in our lives. Lots of people are on oxygen. You see those old guys lugging their green tanks and clear tubes around. They all manage. How can something almost lighter than air weigh down on us so heavily?

Perhaps it's mostly symbolic. Is the oxygen a harbinger of the next decline, the beginning of the end? Until this month we had been so pleased that our 11 eleven year old boy had been stable, well, stable for him. We had no unplanned hospital visit for the past 4 years. This month we had 4 of them in as many weeks.

We never kidded ourselves that a degenerative disease could be held at bay for very long. And yet to see and hear a sign of what feels like steep decline shakes us. It has forced some more of those big conversations about the end, how it will come, when it will come, how much we'll fight against it.

We've always said (in the abstract) “no extreme measures”. We want quality of life not quantity of years. The last big change to his level of care was a g-tube for feeding and nothing by mouth. Luke has lived a much happier, healthier life for the last 9 years because of that. Was it an extreme measure? Is oxygen?

In the hospital I kept thinking of a line my friend Matt Sames says in a film we screen at our festival. He said “you think of degenerative disease as a constant slope down, it isn't. It's a plateau and then a sudden drop and then another plateau and then another drop”. I clung to those words. Maybe, as we have before, we'd weather this current steep plunge and Lucas would come out on the other side and settle into the plateau of his new normal. We'd get used to his new level of care. We and he would enjoy life for the next stretch never sure how long that plateau will last.

It's been a rough month. From the day after Thanksgiving to the day before Luke's 11th birthday we spent 11 days in the hospital and one night at a sleep study clinic. In our house the day after Thanksgiving is not Black Friday, it's called Festive Friday. We don't go shop. We decorate the house for Christmas and bake cookies. This year the tree was left half trimmed, the cookie dough left in the fridge as we headed to the ER. Festive Friday became restive Friday. The acute issue turned out to be a blocked and distended kidney. They got that drained and eventually got many stones out. But along the way someone says “Lucas should be on oxygen.” Someone with a Doctor before his name.

And here's where I sound heartless. I'm not. I'm frustrated. But we know almost every system for Luke is compromised. So it feels like whatever specialist gets to look at him will be the next one to add to a list of his symptoms which need treatment. If the heart guy checks him out we'll discover heart problems. If the foot doctor comes in, we can hear a long list of what's wrong with his feet and what can (must?) be done about that. Let me be flippant here, it's my blog, I'm venting. I feel like the surgery ended with “The procedure was a complete success, but we discovered your son is dying.” Yeah you, doctor of the day, you discovered he's dying today. We, his parents have been facing this for 10 years.

And we're caught is this spot of when is a treatment more harm than help. We can not fix everything that's wrong with Luke. Should we try to be fixing everything that can be fixed? We are parents forced to triage their child. Dislocated elbows? Ignore those. Doesn't matter to Luke or to us. Ditto dislocated hips. Curved spine, that was a tough call probably our most difficult to date. Inability to eat, that's pretty essential, so we got that solved a while back. And now breathing. What could be more critical both in reality and symbolically that drawing breath? And as it turns out expelling breath.

Here's a new piece of my armchair medical school training: it never occurred to me that you might have two different breathing issues. We need to get the oxygen in and get the carbon dioxide out --of course, grade school science there. But I didn't realize the two are not always reciprocal. You can add oxygen by mask and tube and only be solving half of the problem. Lucas' twisted posture and low muscle tone are making it harder for his lungs to inhale but also to exhale enough CO2. The fix there isn't as simple.

So he goes home on oxygen. And we know we're not solving the other half of the problem. But good news his school and the nurse in his classroom are all set to handle his oxygen needs. We're headed closer to his normal routine again. And then this small bit of logistics: the school bus has no nurse on board. It's not impossible to get one but it could take months if it can happen at all. So Luke can't ride the bus. His school isn't far. I could drive him everyday. It's a hassle but not horrible. Just another change for our new plateau I guess.

Then we catch our first break. The oxygen order is re-written in a way that says “okay to ride school bus without oxygen”. That was something so small but huge too. And we didn't just catch that break we made that break happen.

Here's where I talk about palliative care a bit. It deserves it's own multi-page essay. It's so helpful and also so misunderstood. Many people, if they think of palliative care at all, think of it along the lines of “let's make things easier and comfortable while you die”. I thought of it like that. Even though my friends include a palliative care nurse, and the head of a group that advocates for understanding and embracing the benefits of palliative care. But if my one-liner understanding is the least bit accurate, it is the first half that should be emphasized and not the last. We discovered this month that “let's make things easier” is a much more important function than the “while you die” part. Five years ago when we decided not to do spinal corrective surgery for Lucas, it was a talk with a palliative care doctor that helped us feel confident in that. This month it was another palliative care doctor we called to get our bus riding exception. Palliative care teams will talk a lot about quality of life. I think when you're not in a place to hear what they are saying “quality of life” sounds like a euphemism for “Sometimes we should let our loved ones die”. But when you're in it, you realize there are a number of steps along that path. Steps where having someone to advocate and make things easier is a blessing. Especially someone with Doctor before her name.

Another piece of my amateur medical training this month came from our new palliative care doctor. We should never have CPR done on Lucas. Of course. But we had never thought it through. Luke is fragile in general and brittle bones are a symptom of Menkes Disease. CPR on him might restore him to life but with shattered ribs causing how many new problems? Problems that might be fatal, more slowly and painfully fatal. So it was relatively easy for us to sign a DNR (do not resuscitate) order to exclude CPR treatments.

That was another piece of our recent education. We thought a DNR was more over-arching and all inclusive. Something like: don't do anything to resuscitate. But the form clearly offers this laundry list of measures you opt to prohibit or allow one by one. And it can be empowering for patients and parents. The medical system is built so that they will do everything than can to “fix” you. For most of us this is just as it should be. My wife and I have begun to say “ fixers gonna fix”.

We left the hospital with a new “fix”. They discovered Luke was anemic. So just start him on some liquid ferrous sulfate. Seems reasonable. Except it creates so much stomach distress the poor kid is suffering for a week. He can't eat. Aaaaaand we decide that particular fix is a treatment worse than the problem it's meant to remedy. We stopped the iron, he began to recover.

The latest thing they want to fix is this whole inhale exhale problem. The first sleep study on December 12th tells us he'll need to be on a bi-pap mask while he sleeps. But the good news is he won't need oxygen while awake after all. Another sleep study is needed to figure out the best settings for his new mask. That study happened December 27th. I feel like there's an old joke, maybe Rodney Dangerfield: “I took a sleep exam... and I flunked”. Well Luke flunked. A few hours in it was clear he couldn't tolerate the mask. So now we wait and see if there's another option or if this time the tough choice of not pursuing a treatment has been made for us.

Oxygen is almost as light as air, literally, but it's emotional weight for us is much heavier.

PS. During this saga I found serendipitous comfort at 4am when I could not sleep in the hospital from the fantastic podcast “Once upon a Gene” by Effie Parks. The episode happened to be “How to survive your hospital stays.” And her son Ford’s laughter is the best medicine.
And this week when I couldn’t sleep after the failed sleep study I stumbled upon an episode of “Hidden Brain” called “The Ventilator” which while it did not provide comfort did offer useful context and Warren Zevon singing “Keep me in Your Heart”.

Our films cover a lot of rare diseases!

We're not quite ready to announce all our films for 2019 but WOW look at all these diseases they address:

Batten, Sanfilippo, EB
GAN
Angelman's Syndrome
PACs1 Syndrome
Goldenhar Syndrome

Congenital Disorders of Glycosylation
GM1 Gangliosidosis
Vader syndrome
Charcot-Marie-Tooth Syndrome
Sickle Cell Anemia, Spina Bifida, Autism

Lafora Disease
SMA
PGAD

Pfeiffer Syndrome
cystic fibrosis

Wilson Disease
Duchenne and Becker muscular dystrophy

MS Multiple Sclerosis
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS)
Friedreich's ataxia
Hemophilia
Fraser Syndrome

Synesthesia
Myotubular Myopathy
Tay-Sachs, GM1, leukodystrophy
Huntington’s Disease
Von Hippel-Lindau Syndrome (VHL)
cerebral palsy

USP7
Degenerative Neurological Disorder
Epidermolysis Bullosa

NGLY1
Menkes Syndrome (Menkes Disease)
Fragile X
Niemann Pick type c
Mitochondrial Disease
Hunter Syndrome MPS

#rarediseasefilms

The Oscar Winning Bawdy Costume Drama That Could Have been a Rare Disease Film.

“The Favourite” is a scandalous version of the reign of Queen Anne of the United Kingdom of Great Britain starring three Oscar winning actresses. Anne (Olivia Colman in her Academy Award winning performance) was in ill health and while this isn't the focal point of the plot it does set up key opportunities for the palace intrigue. Anne most likely suffered from Antiphospholipid syndrome (APS), also called Hughes syndrome. A key symptom is clotting of veins and arteries. It is thought to be the reason Queen Anne had no successful pregnancies. But this disease isn't named in the film, nor should it be since Hughes syndrome wasn't named until 1983. The film, set in 1710, instead refers to her illness as gout. Gout by the way has been called the “disease of kings”. Anne spends much of the film in a wheelchair.

Anne's symptoms create the opening for Sarah Marlborough (Rachel Weisz) to ingratiate herself as a care giver, massaging her legs. Later Marlborough's cousin and rival Abigail (Emma Stone) concocts and herb salve that soothes the Queen's leg wounds. Abigail seizes the opportunity to care for the Queen's ailments and gain favor. So while this could have been a story of the intensely personal role of caregiver to her patient both Sarah and Abigail advance from attending to the Queen's medical needs, to her emotional, and on to her sexual. And the sexual politics trump the global politics and this film becomes a love triangle tale as Abigail and Sarah vie for power and leverage over their Queen.

The Winning Throne.

Here be dragons!
Spoilers follow for the season finale of Game of Thrones.
You've been warned.

I'm not going to whip up a fan theory on how the eight season long tale of Westeros is a Rare disease parable. Bran is wheelchair bound after a fall, not due to a disease. Maybe we can argue Tyrion's dwarfism comes from Achondroplasia (not rare, but it's a mutation of the gene FGFR3) which affects actor Peter Dinklage. But the show was never about that, cause you know science.

Instead Bran. Bran abides. Bran endures. Bran persists. He overcomes. He gets vision and wisdom. He gets a wheelchair. And ultimately the wheelchair is the throne. Yes, the coveted titular throne, the iron throne forged of the swords of defeated rivals, literally melts away into irrelevance.

And upon what new throne will the new king sit? A wheelchair! I love it.

And I kinda predicted it. Or maybe my ten-year-old did. October 2018, Lucas dressed for Halloween in his wheelchair as Bran on the Iron Throne. Some thought it inappropriate. His school had an explicit no costumes with weapons policy. I'm sure many asked “Are they really letting their 10 year-old watch that show?”. For the record at the time we were not. So yeah I can't say Lucas was a fan of the show or had any insights into it. It's totally dad projecting his fandom onto his kid who can't speak up to pick a different favorite costume. But this spring Lucas did begin to watch GOT when his nurse was at our house. They'd watch together and he really responded to the spectacle of the dragons. A favorable response, not a terrified freak out.

Someday we can argue (or maybe right now in the comments section) the merits of Westeros voting in another white male. I mean they'd have no issue voting for a qualified women to lead them, just not that woman. Right? And why do we have to call him Bran the Broken? I don’t know, maybe they get a pass since this is set before the Age of Enlightenment. But all that aside, exulting the kid with disabilities to the highest office in the six kingdoms? —that works for me.

7 Movies you didn't know were about Rare diseases, and 5 you probably did.

First the ones you probably did not know were about Rare Disease:

“Detective Pikachu” 2019 – The mastermind of the plot (Bill Nighy) has a rare degenerative disorder and is in a wheelchair. He seeks a cure by genetically engineering lab rats... er I mean Pokemon. This results in a new serum called "Serum R". What does the R stand for? They never say. Could it stand for Rare?

“Glass” 2019 – Mr. Glass has Type I osteogenesis imperfecta. Director M. Night Shyamalan has two parents and a wife who are doctors so he probably gets his disease details right. Read more here.

“The Favorite” 2018— Queen Anne (Olivia Colman) most likely suffered from Antiphospholipid syndrome (APS), also called Hughes syndrome. Anne's symptoms create the opening for Sarah Marlborough (Rachel Weisz) and later Abigail (Emma Stone) to ingratiate herself as a care giver, massaging and tending her legs. Read more here.

“The Greatest Showman” 2018 – Those circus “freaks”? Historically many of them had rare diseases. Based on a true story. Read more here.

“Arrival” 2016 – Amy Adams plays a rare disease mom, it's backstory but it alters her world view, which alters the plot. Read more here.

“The Big Sick” 2016 – A meet cute comedy about a girlfriend in a coma due to the rare disease adult-onset Still's disease (AOSD). Based on the true story of Emily V. Gordon and Kumail Nanjiani (Silicon Valley).

”Danny Collins” 2015 — Al Pacino plays an aging rock-star who decides to change his life and find the adult son he’s never met. The son (Bobby Cannavale) turns out to be battling a rare form of leukemia. Very loosely based on a true story.

Next the ones you probably already knew were about Rare Disease:

“Five Feet Apart” 2019 – Cystic Fibrosis keeps teen lovers apart. Six feet apart is the required safe distance to avoid infection. The film's treatment of this became controversial in the CF community. Read more here.

“Midnight Sun” 2018 – The disease, XP, literally makes Katie (Bella Thorne) a star-crossed lover. Read more here.

“Extraordinary Measures” 2010 – John Crowley starts his own research lab to save his kids from Pompe disease. Based on a true story.

"Lorenzo's Oil" 1992 – The Odone family’s search for a treatment for adrenoleukodystrophy (ALD). Based on a true story.

"The Elephant Man" 1980 – Directed by David Lynch. Based on a true story. Joseph Merrick likely had Proteus syndrome or neurofibromatosis.