chronic life – Natalie Abbott

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.

Photographically Aware

Just a few of my Moebius Syndrome Awareness Day photos. Not really in the mood to write anything as honestly as I don’t have any novel thoughts on the day or anything else. But photography is a bigger outlet for me right now, so here ya go.

Be aware. But beware of how you are being aware. Whew, a mouthful. But true.

Awareness & Pain

It’s awareness season.

The Moebius syndrome community is all about awareness right now, talking about facial expression, smiling, every heart euphemism you can imagine.

I’m doing it too, but I’m also imploring a different kind of awareness. Awareness of how different we are, and how Moebius syndrome affects us differently.

Sometimes, maybe often times, the fact that I can’t fully smile is the least of my problems.

I woke up this morning, and it physically hurt to stand up. My legs always hurt. I’m often tired. My hamstrings are so tight (no matter how many barre classes I take) that I can’t bend my knees, I kind of fall to the ground in a super awkward collapse.

I sometimes randomly fall over, out of nowhere.

I don’t drag my awesome service dog around for the heck of it. I have him because I usually hurt. He doesn’t alleviate the pain since I still have to actually go out and do stuff… but he helps me where I struggle.

So today I’m going to unpack my new apartment, go grocery shopping, go take a riding lesson (yes, I found the perfect sport that doesn’t require standing, walking or running!) and implore you to truly look beyond face value.

http://moebiussyndrome.org/events/moebius-syndrome-awareness-day/

Non-Resolutions

I’ve never done new year’s resolutions, really. Or if I’ve done them they weren’t salient enough in my memory to remember them. Guess that’s close enough to not doing them at all then.

So I’m not doing any this year. But I do have some guiding principles I’m trying to adhere to…

Work hard, play hard. Yeah, super-cliche and slightly stupid. But totally true. Work is hard and rewarding and usually fulfilling and I want to keep it that way! And figure out just where I want to aim my career aspirations and prepare myself for that with professional development and such. And then play: dogs, horses, Hamilton!SHN, NYC… more arts and theatre. And family/friends/etc.

Respect me. Sometimes I don’t. Sometimes others (I think) take me for granted. I’m ready to change that. I’m ready to demand that people take a look at what I’m doing, and give me some damn credit for it!

Stretch myself. Comfort zones are awesome, but not entirely productive. Challenge accepted.

Be artsy. Being artistic makes me happy. Need to make actual time for arts (and crafts! Or whatever crazy category dog ornaments fall into…)

There’s probably more, but as I said… I don’t really do resolutions.

(Pig the Palomino says happy new year!)

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.

MedX thoughts in Tweet-form

A more coherent post will follow…but here’s the Tweeted digest version of my weekend talking healthcare change, chronic illness and tech.

https://storify.com/Nataliea/medx-2016-in-tweets

Will Work For Coffee: Self-Care At Work #sponsored

Apparently I have an inordinate number of pictures of coffee on my phone. I also have a ton of photos of my dog, but that at least makes more sense than my strange compulsion to photograph my work coffee habit!

I am a firm believer in the power of caffeine to cure many of the ills of life, and especially the ills of trying to work with a chronic illness.

And I’m only saying this somewhat tongue-in-cheek.

I am a firm believer that caffeine is the best medicine ever. Yes, it’s a tad addictive and rather expensive (which is why I most definitely do not add up what I spend on my coffee habit!) but it’s often literally the only thing I can do in the morning to get myself up and going and feeling filled up.

Iced coffee, drip coffee, espresso drinks… some combination of all of these is a big part of how I survive my full-time job with a chronic illness.

I deal with a lot of pain from my neuromuscular disorder and fatigue from my autoimmune disorder so am always looking for ways to help myself in these ways. Some things I do are pretty self-explanatory: getting enough sleep is important! same with eating well and all that stuff.

But some other more novel things help, too:

Enter: Cassius, service dog extraordinaire! I’ve been partnered with a service dog for three years now, and he helps me immensely with reducing pain, conserving energy, helping me navigate my commute, and providing an awesome distraction from my pain during the workday. He can happily pick things up for me when I drop them, offer counterbalance going up and down the many BART stairs I maneuver on a daily basis (because the elevators are slow and nasty. Bad combination!) and opening and closing doors, drawers and cabinets for me.

During my workday I try to take a decent number of breaks to either plop down in the breakroom or get outside and enjoy some fresh aid and to change up what I’m doing, luckily my job at a library really allows for doing a bunch of different things throughout the day. This helps me alternate what areas are less painful than others. It’s facetiously better to have many things hurt a little than to have one thing hurt too much!
Lastly, taking a bit of time for myself to devompress after and before work is vital – whether it’s reading (it’s quite nice to have access to thus ands of books all the time!) or playing ridiculous computer games (Frozen Free Fall, anyone?) or hanging out with puppies and horses on my hours and days off is vital to my sanity and health.

Working is important to me. It means that I’m contributing to society, making my mark in the workplace, and (every so often) changing people’s lives – and sometimes their perceptions of what people with disabilities can accomplish. I don’t necessarily focus on that, but I don’t argue with it when it happens!

For more tips on Self-Care, check out http://selfcaremvmt.com/

Bandaids of the week

Sometimes I feel like a walking bandaid advertisement. Seriously… it’s rare that I don’t have at least one bump or blister or cut that needs one. And I’m sensitive so I pretty much azaleas err on the side of covering something painful.

Today’s rally: one big one on my toe that I grabbed from the work first aid box when I realized that the shoes I thought were wide enough for my feet really aren’t (argh! Off to return them and order the wide!), one for my finger where I somehow developed a weird blister thingy overnight (?!)… and one on my finger where I shut it in my work desk last week (seriously, only I could do that!).

I decided that if I had to keep injuring myself… I might as well have fun with it. This week I’ve had boring beige (courtesy of work), striped, polka dots… and Frozen (yep, I did go that far – I wonder if Elsa is staring me down, telling me to adult and let it go?).

So I might be a bit ouchy… but at least it’s colorful!

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.