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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.

 

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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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Rare Disease Day 2015



Saturday February 28 is World Rare Disease Day. I’m always happy to support this effort – the numbers are staggering, if you think about it: one in ten people are affected by a rare disorder (if you like infographics, Global Genes Project has a few illuminating ones related to rare disorders).

Although all 7,000+ rare disorders are obviously different, the experience of living with these conditions share many commonalities – the search for a diagnosis and knowledgeable physicians, the search for information and community, and the powerful connections you get with shared experiences.

It’s important to channel the National Organization for Rare Disorders motto – “Alone we are rare. Together we are strong” because it is true – the collective power of this community is truly powerful.

Because I have a t-shirt purchasing problem (and because I really love the sentiment and meaning of this shirt), I just had to get this one from Global Genes… I truly do know and love so many people in the rare disorders community. And I try to love myself, as much as my perfectionist self can! Maybe wearing this will have it rub off a bit…

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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.

A Preview of Rare Disease Day 2014

My dog’s getting into the spirit of the day! Actually, he just really likes to hold things so I capitalized on that in this instance. Tomorrow I’m going to Sacramento, CA with many other rare disease advocates from across the state, along with the National Organization for Rare Disorders and the Global Genes Project. We’re not going on Friday the 28th (which is Rare Disease Day) because the legislature is not in session then… so we’re being prompt! I’m really excited to see what we can do collaboratively to advocate the cause of rare disease funding, care and research.

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A Preview of Rare Disease Day 2014

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Rare Disease Day is February 28th! It’s a valuable day because the strength of the cumulative rare disease community is huge,

I felt the strength and resilience of people facing all different medical conditions when I was at CCI, and it was a powerful, transformative experience. It reaffirmed for me that I need that community in my life in some way, probably more through CCI than through other groups at this time for some tough personal reasons. But I realized I do indeed need it to center myself, to reaffirm my place in this complicated world.

The motto of the National Organization for Rare Disorders is “alone we are rare, together we are strong” and I believe it’s more relevant now than ever before.  Events for Rare Disease Day range from just wearing jeans or a jeans-colored ribbon to show support to large Capitol Hill lobbying events.

For more information on Rare Disease Day and how to get involved, see:
http://rarediseaseday.us/

Global Genes – Allies in Rare Disease and Genetic Disease, genes, undiagnosed patients

(and I thought this photo was a perfect background for the message, as who cares more about you – in their own unique way – than a really adorable dog?)

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“alone we are rare, together we are strong”

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