Uncategorized

Thinking Zebras

Hear Hoofbeats? Think Zebras

I don’t know where that phrase originated in the rare disease community, but I love it. If we are going to take this even further, I am probably a zebra with extremely funky and unique stripes as I’ve managed to get myself a collection of unrelated rare diseases.

Thinking zebras is important for the Moebius syndrome community. Individuals with Moebius syndrome and their families have to be innovative, think outside of the box to problem solve difficulties and develop the mentality that being a metaphorical zebra is okay.

Thinking zebras is important for me, and for others living with rare diseases. Life with rare diseases oftentimes necessitates ingenuity, creativity and adaptability. To be able to think outside the box when one hears the metaphorical hoofbeats is crucial for quality of life.

Thinking zebras is important for the community when encountering rare disorders. There are more than seven thousand rare disorders, with advanced genomics discovering even more disorders every day. I personally don’t fault anyone for not knowing about all of them, but hope for kindness, empathy and support for those of us with rare diseases.

Thinking zebras is important for the healthcare community, especially for rare diseases where there is no known genetic cause. We still rely on clinical diagnoses, which may not come, may be incorrect, or may simply just take entirely too long to arrive at.

Thinking zebras is important for allies of the rare disease community, who wonder how they can help us raise awareness and mobilize.

Thinking zebras is important for researchers in rare diseases. The theme of Rare Disease Day this year is With Research Possibilities Are Limitless, but research into rare diseases is often frustrating and sometimes fruitless (see: Moebius syndrome research, where they have not found anything genetic yet!)

So next time you hear hoofbeats, look carefully as the zebras gallop by.

 

Standard
Uncategorized

My narrative is my own

Sometimes I feel it. The pressure of just being, of just being with Moebius syndrome. Being unique, and having that uniqueness be intricately tied to yet completely devoid from my conditions. Trying to find that within me that walks that line. I fail at it. I go full-tilt one way or another, trying to find that balance. I tweeted this earlier today as part of chat, and it is a reminder to myself.

Standard
Uncategorized

Back brace as fashion statement

My favorite brown pants. Black v-neck. One of my favorite sweaters that I can only wear when it’s sort of chilly so it doesn’t itch but not too chilly that it’s not warm enough. And an Ace bandage back brace hidden beneath it.

That’s what I wore to work today.

And that is how I feel I live my life right now, not necessarily hiding things but just not having enough time, mental energy, willpower, who knows what to address.

I can get it together to get to work on time, have successful work days at my new and sometimes challenging job, do the volunteer commitments I have and have a bit of time for other fun things… 

But sometimes I wish I could approach everyone I see and tell them that I hurt right now and everything I’m doing is informed by that. I have no idea what that would actually get me, since I abhor unnecessary sympathy – but maybe a bit of understanding?

Standard
Uncategorized

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.

Standard
Uncategorized

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

Standard
Uncategorized

Bursting the Happy Healthcare Bubble

 
When you are at the NIH Clinical Study for a Natural History Study, your healthcare life is pretty darn good (well, besides the fact that you have medical stuff going on that landed you there in the first place!)

Every doctor you see in the course of your study protocol is an expert. Every doctor you see knows your rare disorder. Every doctor you see is interested in you and your overall health – not just their specialty.

One can get quite spoiled.

That’s all the preface to my newest medical slight debacle: I refuse to start a new treatment for a newly-diagnosed condition without seeing a specialist first. Like… on what planet does that make sense for patients?! Do people actually agree to that?!

I know I feel icky. I know my thyroid numbers were weird. But that’s the extent of my knowledge… and there’s no way I’m blindly starting a new-to-me medicine without at least seeing a doctor! <ends big over dramatic sigh>

I fear (but also love) that the NIH has thoroughly spoiled me. I deserve it. Everyone does.

Standard