Tag Archives: rare disease

Voila, Representation!

I will confess, in a moment of weakness I hopped onto the Voila craze. And I like it, because it’s the first avatar type thing that still looks like me.

I have a long abandoned Bitmoji hanging around somewhere. I have an Apple avatar thingy, unused. I have a Facebook avatar that never sees the light of day. Because these things… just don’t look right.

I am generally a practical person. The statistical number of those of us with unique facial differences is so low that it makes total sense to not have the ability (how would you even do that?) to make an online avatar realistic. And are they even supposed to be?

While all these things are essentially escapism (and who does’t need escapism right now?) it’s nice to have escapism that keeps what makes me there.

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.

My narrative is my own

Sometimes I feel it. The pressure of just being, of just being with Moebius syndrome. Being unique, and having that uniqueness be intricately tied to yet completely devoid from my conditions. Trying to find that within me that walks that line. I fail at it. I go full-tilt one way or another, trying to find that balance. I tweeted this earlier today as part of chat, and it is a reminder to myself.

Back brace as fashion statement

My favorite brown pants. Black v-neck. One of my favorite sweaters that I can only wear when it’s sort of chilly so it doesn’t itch but not too chilly that it’s not warm enough. And an Ace bandage back brace hidden beneath it.

That’s what I wore to work today.

And that is how I feel I live my life right now, not necessarily hiding things but just not having enough time, mental energy, willpower, who knows what to address.

I can get it together to get to work on time, have successful work days at my new and sometimes challenging job, do the volunteer commitments I have and have a bit of time for other fun things… 

But sometimes I wish I could approach everyone I see and tell them that I hurt right now and everything I’m doing is informed by that. I have no idea what that would actually get me, since I abhor unnecessary sympathy – but maybe a bit of understanding?

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.

Where rare isn’t so rare


It is a profoundly strange experience, going to a place where your (nearly) one-in-a-million condition is common. Strange isn’t bad, it’s just…weird!

Last weekend, nearly 120 people from infants to senior citizens gathered for the 12th Moebius Syndrome Foundation Conference in Long Beach. To put it in perspective, under 100 people total (and 20ish with Moebius) gathered for the first Conference in 1994.

It’s weird to look at a (figurative) lot of people who look somewhat like you. It’s discombobulating. But good.

Of course the sessions and everything are great and the information-sharing is incredible, but the true value of a conference for a rare disorder is the face-to-face relationships you form. 

When you go home and real life intrudes things get filtered, Moebius is important but not as important as work and the day-to-day routines, so in a way making a weekend all about Moebius is important for all involved.

That was incoherent. But something slightly sappy but too exhausted to form coherent sentences is my post-Conference train of thought right now.

to quote the incomperable Rick Guidotti

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.

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.

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!