My pretty cool looking “normal brain”

I got another batch of information back from my week at the National Institutes of Health, and I really think my favorite quote ever was “patient has a normal brain”… good to know!

Other fun stuff: they couldn’t find a seventh cranial nerve (which doesn’t necessarily mean it’s not there – they did an autopsy on someone with Moebius and found that the nerve was there but went down into the spinal cord instead of into the brain), and that my seventh nerve is hypoplastic (underdeveloped).

Apparently my scoliosis is two or three degrees more than both the doctor and I thought. From the nerve conduction studies where they zapped me, I apparently have no blink reflex (which I knew!), and reduced amplitude in all facial nerve stimulations (maybe that’s why it didn’t hurt that much?)

No information yet from the blood or skin biopsy yet, but I’m not expecting anything since they don’t yet know what they’re looking for!

And lastly, the awesome nurse coordinator for the study (truly a sanity-saver!) sent me these amazing colored views of my brain from my MRI! I think the coolest part is that this was done without dye or anything… no idea what it means, but it’s pretty!

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.

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.  



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!

NIH Day 0: Travel

Got up at the crack of dawn California time, just in time to see a gorgeous Bay Area sunrise on the way to the airport:  

We thought we had a full flight, but then found this strangeness next to me – Cassius appreciated the extra room!  

Made it through the flight and an e-book glitch that made what I thought I was going to read unavailable (ugh!), and landed at Dulles to the relief of Cassius who finally got to eat!  

After feeding him we dealt with the craziness of Dulles (seriously, how far are the terminals from the baggage claim!), found our taxi and were on our way to the NIH.

We went through security, then on to the Safra Family Lodge where we are staying. Our room is so cute!  

If I wasn’t so hungry I would have taken a photo of the much-needed dinner provided by the Friends of Patients at the NIH… but eating was more critical than picture-taking!

Tomorrow starts the myriad of appointments and tests…

This is a song, for all the good people…

NIH Director Dr. Francis S. Collins at the 10th Moebius Syndrome Conference

Honestly my favorite part of the 2012 Conference. I totally teared up. Hope he can make it again to DC this year.

Today is Rare Disease Day, and this song sums it all up for me quite succinctly. It’s about the people I’ve met and continue to meet due to my rare disorders. They transformed my life, gave me my sense of self, connected me to the amazing CCI world… and so much more. I look forward to what else is in store for me on this journey.