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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.

 

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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.

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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.

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Researching a Rare Disorder on MedNexus (sponsored post)

When you have a rare disorder, Dr Google and Dr Facebook are your friends. Now this is not the most medically-sound method of procuring medical information, but it is sometimes your only option.

As a member of a group of bloggers with chronic illnesses, I was invited to test out a new site for medical information for patients called MedNexus (www.mednexus.io). I’m always up for looking things up (seriously, I get paid to Google random stuff!) so thought I’d try it out.

I typed in Moebius syndrome… which my autocorrect decided to change to Mobius syndrome (incidentally, also correct and the spelling used in Europe). MedNexus found nothing under Mobius, which I thought was surprising. Went back to the search page and typed in Moebius syndrome.  

First of all, I love the interface of this site – nice pretty clean lines and visually appealing either on a mobile device or on a desktop. The first thing on the site under Moebius syndrome was a definition of Moebius mined from the National Organization for Rare Disorder’s information page, a very trusted source with good information: yay!

After that, however, things get a little dicey as far as relevance goes. It picked up 13 published research articles, but none of them were relevant actually. I keep up with new research articles so there is more research out there, it just wasn’t grabbed by this algorithm. The Ongoing Clinical Trials tab didn’t show the Natural History Study I just participated in – which is still listed on ClinicalTrials.gov as recruiting. And the forum posts tab was just… confusingly unrelated. It almost seemed like it was grabbing everything with syndrome in it even though I used quotation marks around the phrase.

So they get big points for using a trusted source for their main information page, but might need to tweak their algorithms a bit to weed out the unrelated information and grab what’s really important. I think they have the right ideas, and it should be interesting to see what comes of this idea.

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Rare Disease Day: Think Zebras

Yesterday was February 29, the rarest of all Rare Disease Days.

I was lucky enough to actually be there in person at the NIH (yep, another day at the Clinical Center!) for the first time.   

The sessions started off with a crazy-proud moment when Dr. Francis Collins mentioned the Moebius syndrome research study I just participated in during his opening remarks! It was pretty amazing that he remains interested enough in Moebius to highlight it in this venue! I felt like the work I do for the Moebius Syndrome Foundation helps just a little with getting things like this research funded and getting researchers interested in us.

The following speakers ranged from the Office of Rare Disorders to non-profits such as NORD and GlobalGenes to The Mighty -which incidentally also did another shout-out to Moebius syndrome as a condition they have featured (thanks in part to me and a few other people in our community!)


 
An ongoing theme throughout the day is one that I think is so applicable both to diagnosing and living with rare disorders:

When you hear hoofbeats, think zebras.

I love this because it is so true. We are unique. We are varied and complicated. But we’re also familiar.  

After our sessions at the NIH we left Building 10 for the last time(!!) and took a shuttle to DC and the reception and screening.

    
We took the Metro back to our last night at the Safra Family Lodge.  

 

 

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Channeling Pride

I ended up in San Francisco yesterday for the first night of the American Library Association Annual Conference, listening to everyone buzzing about the SCOTUS decision and their plans for the weekend. I think the concept of pride as a movement is amazing, and a reminder to channel my own disability pride. I mean, I’m active – sometimes too active! – in the Moebius syndrome and Canine Companions community, but does that mean I actually have pride? Do I wear it proudly like a huge splashy rainbow? I don’t know. Sometimes I think I don’t, then sometimes I think I shouldn’t have to then sometimes I think I am failing everyone (lord knows who ‘everyone’ is!) for not being prideful or active enough. That is the paradox of being from a minority group that is diverse and doesn’t have the cultural cohesiveness of other minority groups. I go days without encountering someone with a (visible) disability, months or years without encountering someone with my rare condition. I get complacent. I sometimes, honestly, don’t care anymore. Then I see something – the Hearing Dog graduation I watched on my phone before the opening session yesterday, a new family discovering the online Moebius syndrome community, and am reminded that I do actually have a lot of pride. The rare disorder community and the service dog community are pretty darn incredible. I need to step back, and to have more pride in these groups… and in myself.

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What I learned at Starbucks today

  

Or rather, what I reminded myself of.

I walk up to the Starbucks ordering counter, give the barista my order for a Venti Mocha Frappuccino Light with my free Starbucks drink (Yay! Because their Frappuccinos are rather overpriced), she asks for my name, I give it to her, she repeats back to me. All good.

Go to the other end of the counter, and wait for my drink. After way too long of a wait a different barista comes up with my drink…

“Valerie?”

Instantly I am angry… at myself for not speaking clearly enough, at the barista for not understanding… all the fun irrational thoughts that come out of life with a speech impairment.

But however annoyed I am I also really need my coffee after my nearly 3-mile walk. I grab the Frappuccino and step outside. Then I read the name on the cup…

Natalie

So all that angst was really not necessary. Barista 2 just couldn’t read Barista 1’s handwriting. I was clear enough.

I am a perfectionist and hard on myself, especially when I know I can do “better”… but I’m learning to let go of what I cannot change.

And sometimes that means grabbing the drink that is on the counter if it’s the right one, no matter what name is called. You may be pleasantly surprised.

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