Uncategorized

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.

Standard
Uncategorized

Caffeine, Canines & Camaraderie

This is a sponsored post for Self Care Catalysts. I have been compensated through the Chronic Illness Bloggers network. All opinions remain my own and I was in now way influenced by the company.

Sometimes I majorly fail at self care. I have things to do, work to do, lots of deadlines and should-do’s in both my work life and other life (which isn’t work but certainly feels like it sometimes). But I try. So, going in order with my alliterated list (because, really, alliteration makes everything better).

Caffeine


I love my coffee. Whether it is fancy independent roasters or your run of the mill Starbucks or something else (well, nearly, I am admittedly a coffee snob!) my coffee makes me happy. It also helps me with fatigue and I swear it helps with chronic pain – or else it just makes you so buzzed it doesn’t matter as much! My morning is made by my morning, and midmorning, coffee. I’ve learned that I have to be careful, so part of my self care is to stay away from the coffee after 1 pm if I want to sleep. Because actually being able to sleep is good!

Canines


My Canine Companions for Independence service dog is s huge contributor towards my self care! He helps me conserve my pathetically low energy by opening doors, carrying things, and picking up all sorts of stuff! These are all things I can do myself but that take a tremendous amount of effort and energy. And using that energy means that I have less physical energy for other things. And honestly, nothing sucks as much as having lots of mental energy but no physical energy. That’s a recipe for self-pity. My dog, in his role just as a dog and not as a service dog, is also paramount to my mental self care! Animals are awesome in this way. And yes, an equine is crashing the canine party because that’s also important to my self-care. The physical and mental exercise I get from riding are life-changing.

Camaraderie

For me, a connection to others with chronic illnesses and disabilities, both my particular condition and others, is vital to my self care! It is reaffirming and sometimes life-changing. I get this connection in many ways – through the groups dedicated to my condition, from cross-disability groups, from my service dog group, and from conferences such as MedX which bring together people of many different backgrounds, both epatients and supporters, all interested in self care through education and empowerment and working together. The rush I get from the interactions I have with people who have experienced what I have is vital.

Having Said All This

Somehow this post makes it seem like I have everything in control with my self care. And… I don’t! I push myself, putting way too much on my plate – and then regret it! But self care and relying on what I outlined above are goals I’m always striving to achieve.

Photo: Rick Guidotti

My name is Natalie, and I ride horses. I also have Moebius syndrome.

http://www.selfcaremvmt.com facebook.com/selfcaremvmt @selfcaremvmt @selfcaremvmt

Standard
Uncategorized

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. 

    
    
   

Standard
Uncategorized

Miscellany

  • This weekend I am going to MedX, a big conference this weekend about tech, social media and health. Super-excited!
  • They have an espresso bar. Enough said.
  • Had a great riding lesson today! Big takeaways: horse has four feet (duh), counting one two three four helps so much with getting a good collected walk; sitting trot: lower legs off, seat back, use thigh blocks.
  • Grateful for the work trainings I’m having, nice that continued education is valued.
  • 12 days until DogFest East Bay!
  • Sometimes you get to the barn and your horse has a peacock feather left in his forelock from the girl before you and it just makes you happy.
  • This was really miscellany. Props to anyone who read through this rambling list.
Standard
Uncategorized

Conference journeys

 
Last weekend, I attended a planning meeting for the 12th Moebius Syndrome Foundation Conference. As always, it’s lots of work with big rewards at the end… but can I reiterate, lots of work. It’s familiar work, though. I know the rhythms, the questions, the work I have to do. It is a long hallway with crazy purple carpet, but I know (mostly) where it will lead me.

I guess that is what I am both most looking forward to – and a bit nervous about – at my first time at MedX this fall. I’m excited, but that is tempered by the fact that I feel a tad bit inadequately prepared for this. 

Yes, I love social media and using social media to connect with others within the Moebius syndrome community and the rare disorders community… I’m just hoping that’s enough to make me not feel completely like a fish out of water! At least I hope so!

Standard