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.