rare disease – Page 2 – Natalie Abbott

NIH Day 3: Better Barium & Eye of the Storm

Today began foggy and rainy and really early at 8 am.

Radiology was first, where I had my first scoliosis X-Ray in many years as part of a different study that I said I’d participate in – it’s actually a great premise: whether non-X-Ray 3D photos can measure scoliosis as effectively as X-Rays.

Then it was time for some barium for breakfast at the swallow study-yummy! For some crazy reason though, this barium was not as icky as the barium I remember. I don’t know whether they’ve radically changed barium, whether NIH just buys high-quality barium, or whether I’m just more mature about it all… but that wasn’t too bad! Plus the swallow study had no icky findings, yay!

From there I had a long break, which gave me time to actually venture out of Building 10. The Campus Shuttle goes past Building I, the original building where Dr. Francis Collins now works.

I went to the

National Library of Medicine and have lunch with a college friend.

Went on a tour (me and about twenty Japanese medical tourists, rather amusing), saw really neat art created from data sets from human bodies

and saw an actual Nobel Prize in the Rare Book Room!

After that it was once more off to Building 10 to the National Eye Institute for more testing for the protocol – as well as a bit for me (got a new prescription with a lot more astigmatism correction, yay!) Wasn’t all that exciting but it was useful.

When I got out of clinic a little before 5 I was informed that there was a tornado warning…this is way beyond what I’m used to in California! We ran back to the Lodge and ordered take out, which I felt a bit bad about having someone go out there but quite relieved when it came!
Tomorrow is another long, interesting day!

When RARE cannot be “cured”

The image above – of virtually all the big pharma companies – illustrates who is funding the Rare Disease Day activities I will attend after my week at NIH doing the Natural History Study for Moebius syndrome. The fact that rare and pharma are so intertwined creates interesting challenges for those of us affected by conditions that you cannot “cure”.
In med-speak, I have congenital anomalities. No pharmaceutical agent will make my nerves work right. Therefore, I am terribly uninteresting to most pharma companies. Not saying that I don’t rely on meds to keep me breathing and functioning, because I do… but there is no hope for a breakthrough cure that can be splashed over mainstream media and lauded by the lay community.

Answers to the causes behind Moebius syndrome have been slow to come, and when they do (I hope they do!) we don’t know what we’ll be able to “do” with that information. Maybe stem cells. Maybe something that has yet to be invented.

I should be thankful there isn’t a necessary rush to develop treatments, but when I hear of people in the Moebius community facing serious respiratory problems that can be fatal…a little part of me wishes we could find a big pharma company to take us on as their pet project and develop something amazing.

But first we need to know WHY.

Hay – It’s Moebius Awareness Day.

Sometimes you’re mentally pooped by doing the real life + internet awareness life + real-life awareness life… that a meaningful post just isn’t going to happen.

But horses always bring me back to my happy place. (and dogs, but that’s for tomorrow’s post!)

And for actual, legit info on Moebius syndrome not tainted by my tires silliness and ridiculous obsession with the Photofy app… see moebiussyndrome.org!

Communities

In the rare disease community, so much is written about finding people who share your same condition. And while that is indeed valuable, one of the most impactful parts of my MedicineX experience last weekend was how similar experiences are across varying conditions.

That’s not necessarily a positive thing – the undercurrents of frustration, pain both physical and emotional and the strain of chronic illness was palpable in the discussions among ePatients. But what was also overpowering, in a wonderful way, was the strength of an informed, committed and driven health care consumer. I was in awe of my fellow attendees.

There comes a lot of “responsibility” when one is a smart and (relatively) accomplished person with a medical condition. To be an example (of what?), to educate, to inform, to advocate. Depending on my mood I am sometimes all about this and sometimes worn out by it. Approaching MedX, I was a bit fatigued by everything. I was questioning why I was involved in things, if it really mattered. But MedX and the discussions I had and speakers I saw reframed my thoughts.

So… what are my takeaways from MedX? In brief: to be informed, to be engaged, to be persistent. It’s that I have a responsibility as an ePatient to myself, to the Moebius community, and to the ePatient community to push the discussion about care, physician/patient relationships and healthcare as a person with a chronic condition forward.

Moreso, it’s that this conversation is interesting and engaging. That while a string of bad genetic luck might have landed me in this situation and with these experiences, it also means that I sometimes get incredible opportunities from it. And that I should embrace them.

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.

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.

Visible Differences and the #ToyLikeMe Movement

A few years ago, I was part of a group in charge of choosing teddy bears to sell at the Moebius Syndrome Conferences. We found that it was actually really, really difficult to find a non-smiling teddy bear! Finally we found a neutral-mouthed teddy bear that we chose.

Makies, a British company, is among a group of advocates and manufacturers embracing the #toylikeme movement – offering customizable 3D printed dolls for sale. I’m actually not really a fan of the heads they use (those eyes are kind of creepy!) but I love the concept.

I probably would have loved more dolls with differences like mine growing up – I was always playing hospital with my Playmobils and loved it when my American Girl dolls came back from the “hospital” (aka with a new head after the hair was beyond repair!) wearing hospital gowns! I don’t think I was necessarily harmed by not having toys that looked like me, but would have loved to have this available to me.

I like that companies are embracing both diversity and customization at the same time – with the advent of technology like 3D printers I really see things like dolls with more involved facial differences being available very soon.

I hope next time I’m seeking a non-smiling teddy bear the toy landscape will be kinder to children with visible differences.

Bruises Aren’t in Style

I am clumsy. Everything is usually slightly blurry. This combination usually leads to me crashing into at least a few things a day… and I often have the bruises to prove it.

Tomorrow I have a potentially-important interview for a promotion (well, actually to get on the list for upcoming opportunities within the higher promotional class). I’m of course a little nervous, I want to get a good ranking and do well… and now I’m concerned also about covering up this ridiculous bruise on my knee! Because of course I need other, random, non-work-related things to worry about!

Maybe that’s what’s really salient about life with a chronic condition – these “extras” that complicate life. The things you worry about that no one else does. There are hidden bruises, too – experiences unique to life with my medical conditions that I carry with me. I carry those, too. Sometimes they hurt as much as physical ones.

Hoping for a good interview and hidden bruises tomorrow, both physical and metaphorical.

Pile O’Awareness, and of History

A stack of t-shirts sits on my bed. They span 6 years, the entire United States, and come from a variety of experiences I have had in the Moebius syndrome and rare disease community. Some I wish I could relive, some I wish I could change my response to, some I am still not sure of. But they are all there, sitting on my bed in front of me,

These t-shirts represent communities, constructed by chance, by choice and perhaps by necessity. They are communities that sometimes I wish I could escape, but know I cannot. Communities that have shaped me and supported me and pushed me. Communities that have, most of all, taught me.

January 24 is Moebius Syndrome Awareness Day, commemorating the birth of Paul Julius Mōbius – a German physician in the 1880s who first described the syndrome. It is a time for awareness-raising, of course, but it’s also a time for reflection. About how we navigate the world with a rare disorder, about how we negotiate real-world life with the online community we have formed, about how we raise awareness in everyday life, not just one week a year.

I tend to be more quiet, and approach awareness raising in the same way – open to awareness-raising, but guarded. Probably too guarded, but that’s a post for a different day (or never). Other people are most comfortable doing it in large-scale ways. Both are needed.

All kinds of things are happening this weekend – get togethers, news stories, social media campaigns… I’m spending Saturday day working, and Saturday night undoubtedly catching up with what I’ve missed! I’m looking forward to seeing what is accomplished this year, and what will happen looking forward to next year and beyond.

My friend Kathleen Bogart just published a study about how awareness leads to understanding. And that is what ultimately I think anyone, but especially those of us living with unique medical needs, want. I don’t even care if you can’t remember what it’s called, honestly (best line ever “whatever-it-is-that-you-have-again?)… but understanding is paramount to acceptance. And we all, ultimately, yearn to be accepted. I think I, and others, are doing good work towards that goal.

So this pile of shirts represents a history, my history, with the Moebius syndrome community. It represents me navigating my unique journey. These are my choices, my desires and my mistakes. They are uniquely mine, just like all of the individual experiences living with Moebius shared on Moebius Syndrome Awareness Day.

Together, they make a visual embodiment of a layered story. My story.

Change how you see, See how you change

Change how you see, See how you change.

Rick Guidotti uses this as his overarching theme for the Positive Exposure project, and the 11th Moebius Syndrome Conference this past weekend reaffirmed the power of this statement for me. As much as his project is about changing how people from outside of the disability community view people with different medical conditions, the perhaps surprising power of the project is really empowering people from within.

I love seeing children and adults, many of whom have faced teasing or worse at one time because of how they look, light up before his lens. I love how he, to use his own words, treats every subject he photographs the same way he treated supermodels. Empowerment is perhaps an overused concept, but witnessing and being part of his creative genius is truly empowering.

I think that empowerment is why I come back every 2 years to Moebius Syndrome Conferences. The community, my friends. The medical information, while always fascinating, is secondary. It’s a bit disarming, in the best way possible, every time… to suddenly be surrounded by people like me – to have it re-normalized, if only for four days every two years in July. It takes you aback, in a way.

But I love seeing the groups of pre-teens roaming the conference hotel in search of adventure, the younger children making friends and meeting children who look like them for the first time, and the incredible community of adults with a wealth of experience and knowledge. I even love the talent show… even if we did witness every possible rendition of “Let It Go” (some even complete with costume!).

It’s about the exposure to different people going through some of the same things I am, and learning from them. It’s about changing how I think about things and how I approach life with Moebius syndrome. It’s about seeing myself evolve over time as a person and as an advocate. It’s about introspection, and about socializing over drinks with our ears still ringing from talent show performances. It’s about history and shared experienced, and it’s about the future.

I am excited about what’s to come after every Conference, and this one was no exception! Looking forward to the FRAME video project explaining Moebius syndrome, applying to be a Pearls Project Ambassador, and about all the exciting research to come!

And very excited about having the 2016 Conference in Los Angeles… can’t wait to go to Disneyland again! And the beach!