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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.

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it’s Asthma Awareness Month!

And I can’t resist the opportunity to share a great infographic. Seriously, Infographics make me happy.


Strangely enough, it took doctors a long time to diagnose me with asthma (well, actually, my pediatric pulmonologist didn’t really know if it is asthma or not but if it walks like a duck and quacks like a duck… so the saying goes).

On a day to day basis my issues are happily controlled by a combination of inhalers and a miracle pill that seriously improved my life so much once I started taking it! I went from missing weeks of school to only having a few issues a year. I do have a ridiculous amount of phlegm all. the. time. (so phlegmatic!)

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Packing with PillSuite (sponsored post)

Packing medicine for trips can be kind of a pain. So many choices: to bring the bottles or not? to sort by med or sort by date? how much extra to bring?
As part of the Chronic Illness Bloggers Network I was given the opportunity to test out a product called PillSuite which aims to help with some of these issues.

PillSuite comes with three things: a pill sorter, baggies, and a sealer for the baggies (along with batteries for the dealer, which are included).

I’m going on a short weekend trip, so I sorted my pills into 5 daily slots – I took out the two things full of vitamins as I realized I take one a day so that didn’t make much sense to sort them together!

From the sorter I used the funnel to put each evening’s pills in one Baggie, then sealed it using the cute green sealer (I love the colors they chose!)  
The process of dealing them took a bit of getting used to – thankfully you can re-do it to get the seal complete if you don’t get it right the first time.

I made a Baggie for each evening of my trip, and only have one thing to think about – I need to take one pill half an hour before the other two so will need to carefully store the other pills for a bit.

I’m interested in testing out the baggies during this trip, and will edit this post in a few days with a review of how they work in practice!  

I think this will be great for some trips but won’t replace my trusty resealable tiny baggies for some uses.

UPDATE: I used the PillPacks for my 4 day trip, mostly with success! I had a few that didn’t really close al the way, but I think that was really user error instead of an issue with the sealer itself! It was a little tricky with my medicine regime, since I take them at two times per night and the PillPacks aren’t resealable – but I made it work! Overall this is a fascinating and useful product. Love that they’re biodegradable, too!

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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.  

 

 

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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.

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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. 

    
    
   

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