Dr. Michael Yeaman:
An orphan disease is a disease for which there is no good therapy. Most orphan diseases happen to also be rare diseases. The relationship there is that there hasn’t been as much effort to identify cures.
Dr. Katja Van Herle:
There’s about 7,000 orphan diseases, and maybe about $16 million allocated through the National Institute of Health for orphan diseases. Until we have a solution for any disease, we actually have to say they’re all without a home.
Dr. Howard Weiner:
NMO stands for neuromyelitis optica.
Dr. Scott Zanvil:
An auto-immune process of the central nervous system that affects the optic nerves and the spinal cord.
Dr. Brian Weinsbenker:
As symptoms of optic neuritis or blindness. The symptoms of spinal cord involvement are paralysis.
Victoria Jackson:
He told me on the phone that I might have four years with my daughter before either she wasn’t with me or she could be lying there paralyzed.
Janelle Durham:
I’ve always felt like it was just us who had this. Always us. Our doctor had made a joke and said, we’re going to say you have your own disease.
Candace Coffee:
“Oh, you’re faking this. You’re not really that tired. Why do you feel good one day and not another?” When you know inside your body, there’s some serious stuff going on.
Dr. Marcelo Matiello:
Right now, NMO is thought would be a very rare disease.
Dr. Michael Yeaman:
It’s about one in 100,000.
Dr. Sean Pittock:
Neuromyelitis optica was considered under the umbrella term of MS.
Dr. Daniel Wallace:
We used to call it Devic Syndrome and it was a constellation of neurologic abnormalities.
Dr. Howard Weiner:
We know now that one of the primary causes relate to antibodies that are directed against a certain structure.
Dr. Vanda Lennon:
The neuromyelitis optica antibody we discovered by chance in the clinical laboratory.
Dr. Claudia Lucchinietti:
The three of us didn’t really quite realize exactly what the other one was doing. We kind of shared our data and then Vanda recognized this unique pattern around the vessels.
Dr. Alan Verkman:
We were looking for a new water transporting protein. It turns out quite accidentally that this protein is the target for NMO IgG.
Dr. Katja Van Herle:
There’s no accidents. It’s hopefully the insight to see what the accidents are and this is how it can actually link up with another one.
Dr. Ben Greenberg:
The NMO story is a great example of being able to take a group of patients that may have been misclassified as multiple sclerosis, and giving them their own name, their own phase, their own biology, and ultimately, their own treatment.
Reese Witherspoon:
The work that I’ve seen Victoria do over the past few years has been extraordinary.
Wallis Annenberg:
It does take a leader to stand up and not just talk about awareness, but to follow through.
Victoria Jackson:
When you’re a mom on a mission, and it’s your child and you feel there’s some kind of a clock going, people are going to talk.
Dr. Katja Van Herle:
Find the best, talk to them, but insist they talk to each other.
Dr. Brian Weinsbenker:
That’s exactly the kind of meeting like the Guthy-Jackson Symposium.
Reese Witherspoon:
Bringing these doctors together so that they can converse and share ideas.
Dr. Claudia Lucchinietti:
You get to hear what other people’s work is and then you can see how it fits with your own.
Dr. Martha Mann:
To see the work that’s gone before me, build on that, not start from scratch.
Dr. Sean Pittock:
We understood that there was a dramatic drive to create collaborations. So at the moment, I’m collaborating with about 20 different national and international groups.
Dr. Michael Yeaman:
These include structural biologists, immunologists, neurologist, epidemiologists.
Dr. Ben Greenberg:
People from Johns Hopkins, people from the Mayo clinic, people from the university of Texas Southwestern.
Collin Spencer:
Other labs, for example, at Stanford are working on B-cell responses, and we’re working on T cell responses.
Dr. Patsi Nelson:
We developed a collaboration with Alan Berkman, who’s just several floors up.
Dr. Alan Verkman:
Before the NMO foundation identified us and brought us together, we didn’t know about each other’s existence.
Dr. Larry Steinmen:
I’d never seen this kind of organization and cooperation among leaders in the field.
Dr. Michael Levy:
We all recognize it’s going to be a group effort.
Dr. David Rosenman:
I think the technology that is going to have the greatest impact on our learning about orphan conditions, and for that matter, all conditions in healthcare is the technology that connects people globally through networks.
Dustin Hoffman:
We’re living in a computer age and despite that, this has never taken place yet.
Dr. Katja Van Herle:
This is a blueprint for a cure of potentially all autoimmune diseases.
Dr. Howard Weiner:
It will have an impact on how to approach treating those diseases. It’ll have an impact in terms of methodology.
Dr. Ben Greenberg:
The idea is putting together all these orphans, collaborating between them so that we can answer questions that apply to as many people as possible.
Dr. David Rosenman:
Now we’re talking about things maybe that we never thought would have anything to do with one another, but in fact, they do. We only know that because we shared information. I would carry that analogy beyond having a flashlight or two flashlights, beyond turning the light on in the room to the sun coming up.
Victoria Jackson:
I know that when you put your mind to it, there is nothing that you can’t do. And I’m not going to stop until I find a cure for this, and a model that really works for people and for the world of medicine to change it.