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.

Wrapping it up (and unwrapping more)

I snapped this photo of the Safra Family Lodge on the last cab ride out of the NIH campus and to the airport on Tuesday. 
Since then it’s pretty much been back to the grind of errands and work and life and worries (and a little bit of fun).

There’s always a certain emotional crash that comes post-Moebius conference for me, and for some reason I was expecting to feel the same way post-NIH – and am quite happy not to, for the most part! Maybe because it was all about me, or less emotional (mostly!) or just different… but I didn’t feel drained like I do post-Conference. 

Now all that’s left to do is to figure out if I can get a specialist referral easily here, wait for my heel lift to come from Amazon, get new glasses with my prescription from the very fancy sounding National Eye Institute… and check the mail for my fancy color coded CT scan of my brain! (Is it weird to seriously think of framing that as a souvenir?! Probably, but maybe a good dorky ePatient level of weird!)

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.  



Weekend Adventures

I went off campus this weekend! Seriously… I don’t think I’ve ever spent 5 days in basically 2 buildings with no outside excursions before and was getting a bit stir-crazy.

Saturday my mom and I decided we needed some retail therapy so Georgetown seemed like the ideal destination. Figured out the Metro (whose weekend schedule is even worse than BART!) and went into the city.  

Successfully walked from the Metro stop to Georgetown and spent a few hours exploring and browsing.   

at Le Pain Quotidien

Ended up at Georgetown Cupcake, which was amusing since I don’t watch the show at all… but I can’t argue with good cupcakes!


Had a bit of a Metro delay/weird NIH shuttle service issues which meant we had to walk back to the Lodge, but we made it!

Today we spent the morning exploring the Children’s Inn – it made the Lodge look positively tiny! There’s so much going on and it’s incredible.   

 After lunch we met friends and wandered the NIH Clinical Center looking at the art (and talked up the benefits of participating in the Moebius study!).   
 Went to dinner at another friends’ house (off-campus!) and successfully took Uber home!

Looking forward to Rare Disease Day tomorrow.


NIH Day 5: Colorfully Wrapping it Up

Today was my last day of the protocol! Amazingly enough, there were still some things I hadn’t done!

Although it was (to this Californian) slightly freezing, the view from the dining room this morning was gorgeous.  

Headed over to Building 10 at the very reasonable hour of 9 to get an ECG, which thankfully turned out normal despite a slight irregularity on my EKG from yesterday. From there I went and got a needed OB/GYN appointment (so happy I could squeeze that in, get the needed test, and stop the awkwardness when registering for Kaiser appts)!

Squeezed in lunch – burrito bowls from the cafeteria counter Mexican area that once again had no tacos. Do they just run out, or do they really not buy enough for any day?

After lunch I had my second MRI, where they did something fancy and added color to it (no IV or anything for me, just computers!). Cassius was unimpressed with MRI attire – guess I smelled weird!

After the MRI (where I once again forgot about the music option, grrr!) I went upstairs and did a funky computer task trying to recognize faces. 

Went back again to Rehab Medicine for my last appointment of the trip – and one I’m getting paid for! I participated in a study that’s seeing whether 3D images are as good as XRays for measuring scoliosis. Today I stood in front of a few cameras with a bunch of strategically placed washable purple marker dots on me and had a 3D image taken of me that they will compare against my XRay. I hope this does work out as I think it’s a great thing to reduce XRays.

After that we ran to the gift shop and picked up t-shirts (they really need “I spent a week at the NIH Clinical Center and all I got was this lousy t-shirt” but I like what I got. Then we touched base with the recreational therapist who gave me more coloring stuff – she said I could’ve had an appointment with her this week, too bad I didn’t know about that! But these will be fun and a good memento of this experience! 

Last thing before concluding this daily not-quite-live-but-slightly-timely blog series (Rare Disease Day and a NIH study wrap-up next week) is something that just made me laugh: NIH is a place where wheelchairs ride elevators by themselves. Got on and it was there, got off and no one was claiming it… who knows!  

NIH Day 4: Snapped, Tested, Zapped & Sampled

Today started with a wise decision to say screw it and eat the chocolate cereal for breakfast. Coffee and chocolate are important food groups, after all!  

We did our usual walk from Safra Lodge to Building 10, it looked rather pretty with the clearing after the storms last night-but I couldn’t decide whether these benches were knocked over by the wind or not.  

First thing in Building 10 this morning was medical photography where the photographer took a bunch of slightly strange medical photos. Then it was off to a borrowed room in the “Day Hospital” for a ridiculously long neuropsych eval and way more IQ testing than I ever hope to do again. We ordered lunch to come up to us but mine took 2 hours (apparently that is not normal!)  

After we finally finished the neuropsych stuff we literally dashed to EKG to get that over with, then went to neurology (I think!) for a nerve conduction test, which sounded worse than it was – kinda felt like being shocked a few times (if one were to get shocked in the face, that is).

 Walking through Building 10 I love the architecture and the light!
Last stop of the day was again in a borrowed room at the Day Hospital, where I did the big wrap-up meeting today instead of tomorrow as one of the researchers won’t be in then. Basic findings were indeed that I have a pretty classic case of Moebius syndrome (phew! I was pretty sure but can only imagine people thinking they have one thing but being told they don’t!). Recommendations were to think about orthodontics, to get a shoe lift ASAP because apparently my legs are drastically different lengths, and to get my blood test readings looked at by an Endocronologist. Besides that everything else looked good.

Last thing of the day was a skin biopsy, so that they can get a different kind of cell from me and use it to create cell lines. Apparently you can get a different type of cells from skin that might be more useful for Moebius syndrome. I find that both slightly scary and fascinating! I was plenty numb so didn’t really feel much beyond pressure although it is starting to ache a bit now that the numbness has worn off! Back to the lodge for take-out again.

Just a few more appointments tomorrow then we’re done!  

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! 

NIH Day 2: I get lost in these halls

(That is a line from Next to Normal, an amazing musical about family and chronic mental illness, if you’re at all interested in theatre relating to these issues you should check it out!)

Today started out with a fasting blood test. Yay (said nobody ever). Stumbled my coffee-less self to phlebotomy where they proceeded to take an absurd amount of blood-it’s a lot when the tech looks at the file and says “that’s a lot of blood!” Having said that, it was the least painful blood draw of my life! (And the tape they gave was pink!)  

After that and a bunch of coffee (some which was provided in phlebotomy, gotta love a department with a coffee bar!), I had the first of 3 appts in Rehab Medicine, who did some stuff from the protocol and some stuff just for me. Apparently my legs are different lengths which explains a lot about some of my walking and foot issues. 
After that I went to Audiolgy for a bunch of tests (which confirmed that my hearing is good!) and sons of the “follow the red dot” tests for eyes. Did that before and after lunch.

Went back to Rehab Medicine for some slightly random visual-spatial tests from the OT and a few balance tests and recommendations for ankle exercises from the PT.

Ended my day with an appointment with the doctors in charge of the protocol and with a neurologist, who went through a bunch of motor and balance tests once again!

Got some interesting information from the blood test that I will need to follow up on and might explain some of my digestive stuff-hopefully! At the Lodge getting ready for another long day tomorrow!

(And in reference to the title: if there is a wrong turn to take in Building 10, I took it!)

NIH Day 1: Hello (from the inside of the MRI)

Day I of research protocol began very early Monday morning at the Admissions office of Building 10 (The NIH Clinical Center) trying to beat the morning rush of people checking in. Got myself an ID bracelet with a barcode, and was bombarded by lots of information about consent and information and such. Was fast enough to be early for my 9 am start time! 

First appointment of the day was with the study’s coordinators, who I had met a few years ago at the Moebius Syndrome Foundation Conference. Basic health history (thank goodness my mom was there, some of the dates I had no idea!) and somewhat of an exam and measurements. It’s rather awkward to have yourself being measured and discussed in length increments!

After that long appointment we got a basic tour of Building 10, which I learned is incredibly easy to get lost in! It’s been added on to many times and has innumerable elevator banks that all don’t lead to the same place. Found a cafeteria for lunch, and explored the Gift Shop – gotta love Chernow’s Hamilton making an appearance! 
After lunch (and after quickly getting a toothbrush to brush my teeth with from the dental people!) was a combination craniofacial and dental exam from a doctor who used to work at UCSF so has some leads to local dentists who might be good for me and more experienced with craniofacial conditions. Lots more measurements and notes (that meant nothing to me!) pictures and a fancy scanner X-ray type thing that went in circles around me.

Wandered more before picking up my NIH long-term visitor ID, which will make getting on campus easier when I leave on the weekend.  

My last appointment of the day… brain MRI #1. Got there and was again reminded that someone really needs to invent disposable hospital wear that isn’t scratchy and disgusting (not to mention gigantic!)  

It wasn’t the worst experience, although I conveniently forgot how loud they are! No music choices either. But I made it through with only a slight headache. 

After that we ate at the cafeteria that’s open for dinner and admired their Rare Disease Day table tents on literally every table! Love getting that awareness out there!

Tomorrow is an exciting day with rehab medicine and PT and OT, hoping they’ll have ideas and suggestions!