Tag Archives: conference

The elusive cure

This is the text of my 2016 Stanford MedicineX Ignite talk.

 

An estimated one in three hundred thousand to one in a million people are born with Moebius syndrome. I am one of those ones.

The defining symptom of Moebius is facial paralysis — people with Moebius cannot fully smile, frown, move their eyebrows or move their eyes laterally, and many have limb differences and neuromuscular issues. There is currently no known cause for classic Moebius syndrome, and there is no cure beyond surgeries, therapies to alleviate the major symptoms.

Since Moebius syndrome is a rare disorder, I spend time with the rare disease community – supporting things like Rare Disease Day, GiveRare fundraising day, and assorted other dedicated days.

But sometimes I don’t feel like I belong. I’m not one of those who can hope for a cure.

A cure makes a good headline. A cure is a finite resolution. And researching cures for rare diseases can unlock clues about how to treat patients with more common diseases, which is one motivating factor why pharma companies are interested.

What I hope for is a new system that values support, relationships and learning from peer-to-peer networks the same way we value the elusive cure.

Moebius syndrome patients rely on eye medications, breathing medications, g tube and tracheostomy supplies, orthotics, dental interventions, strong prescription sunglasses since we cannot blink or squint in the sun. We definitely spend entirely too much on medical things. But we apparently aren’t exciting enough. Large pharmaceutical companies aren’t interested in providing information to patients, or donating to family conferences, or even in donating something as simple as a eye drops. Why?

Is the lack of payoff for an uncurable disorder not enough to justify supporting it?

How can we make improving quality of life – through both pharmaceutical and social interventions – as coveted as a cure? Studies have shown that social support is vital for people living with Moebius syndrome, and is life-changing for the nearly 100 people with Moebius syndrome and almost 300 family and friends who gather at our conferences.

It is often the first or only time every two years where their differences are normal. And that is invaluable.

The symptoms of Moebius syndrome can lead to tremendously awkward and sometimes offensive interactions where assumptions are made by appearance alone. A few months ago as I was toileting my service dog in my apartment’s courtyard, a man walked up to me and out of the blue asked me if I was on Section 8, because of the way I look. I was too shocked to come up with an intelligent comeback besides “no” as I hurriedly threw dog poop in the trash. Everyone with Moebius syndrome, or any visible disability, has had those moments. And they sting.

But rare isn’t so rare when there are 100 of you.

How might we value hope. support and relationships and learning the same way we value the elusive cure? Moebius syndrome can lead to these painful interactions, but it can also lead to resilience, creativity and strong connections. How might we value and prize the social connections and the power of community as much as we value a cure? How do you put a monetary worth on something unquantifiable?

Moebius syndrome will not be cured in the traditional sense. Missing cranial nerves and  skeletal anomalities cannot be solved by a pill. And that is what it is.

So how might we advocate for increased industry support for patients where – while they rely on pharmaceuticals to improve, but not change, their lives – the main change will come from within? Is a change aided peripherally but not defined by pharma interventions worth investing in?

For those of us who are living it, yes.

Instead of hope for a cure, for me and others with incurable conditions, hope is the state of mind fostered by a strong community who knows and accepts the fact that not all things in life can be cured. Hope comes through connections, resources, strength and time, instead of in a pill. But hope is as valuable as a cure.

And some memories in photo form from the weekend.

Where rare isn’t so rare


It is a profoundly strange experience, going to a place where your (nearly) one-in-a-million condition is common. Strange isn’t bad, it’s just…weird!

Last weekend, nearly 120 people from infants to senior citizens gathered for the 12th Moebius Syndrome Foundation Conference in Long Beach. To put it in perspective, under 100 people total (and 20ish with Moebius) gathered for the first Conference in 1994.

It’s weird to look at a (figurative) lot of people who look somewhat like you. It’s discombobulating. But good.

Of course the sessions and everything are great and the information-sharing is incredible, but the true value of a conference for a rare disorder is the face-to-face relationships you form. 

When you go home and real life intrudes things get filtered, Moebius is important but not as important as work and the day-to-day routines, so in a way making a weekend all about Moebius is important for all involved.

That was incoherent. But something slightly sappy but too exhausted to form coherent sentences is my post-Conference train of thought right now.

to quote the incomperable Rick Guidotti

Purpleness 

It is a good thing I like purple. Because I (well, minus the three days of work this week) will be both literally and figuratively awash in purple at the Moebius Syndrome Foundation Conference.


Found this graphic on Photofy (love that app!) and, well, if purple is an idealistic color I like that color for a non-profit, since what we’re doing is really an idealistic venture. Sensitive is of course good too. Working with people of all different backgrounds and perspectives is a great exercise in sensitivity! Creativity is where I’m most happy. Seriously, give me something creative and I’ll go overboard in the best way. Elegant? Well… I try. So I like it!

Thank you someone in the early 90s for choosing one of my favorite colors for “my” Foundation. At least it’s not…burnt orange or something like that.

Conference journeys

 
Last weekend, I attended a planning meeting for the 12th Moebius Syndrome Foundation Conference. As always, it’s lots of work with big rewards at the end… but can I reiterate, lots of work. It’s familiar work, though. I know the rhythms, the questions, the work I have to do. It is a long hallway with crazy purple carpet, but I know (mostly) where it will lead me.

I guess that is what I am both most looking forward to – and a bit nervous about – at my first time at MedX this fall. I’m excited, but that is tempered by the fact that I feel a tad bit inadequately prepared for this. 

Yes, I love social media and using social media to connect with others within the Moebius syndrome community and the rare disorders community… I’m just hoping that’s enough to make me not feel completely like a fish out of water! At least I hope so!